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Gene id 4049
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol LTA   Gene   UCSC   Ensembl
Aliases LT, TNFB, TNFSF1, TNLG1E
Gene name lymphotoxin alpha
Alternate names lymphotoxin-alpha, LT-alpha, TNF superfamily, member 1, TNF-beta, tumor necrosis factor beta, tumor necrosis factor ligand 1E, tumor necrosis factor ligand superfamily member 1,
Gene location 6p21.33 (31560549: 31574323)     Exons: 8     NC_000006.12
Gene summary(Entrez) The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin's lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
OMIM 153440

SNPs

 rs1041981

Strand:    Allele origin: A(germline)/C(germline)  Allele change: A/C   Mutation type: snp

CM000668.2   g.31573007C>A
NC_000006.11   g.31540784C>A
NC_000006.12   g.31573007C>A
NG_007462.1   g.2435C>A
NG_012010.1   g.5909C>A
NM_000595.3   c.179C>A
NM_001159740.2   c.179C>A
NP_000586.2   p.Thr60Asn
NP_001153212.1   p.Thr60Asn
NR_149045.1   n.-304G>T
NT_113891.2   g.3050400A=
NT_113891.2   g.3050400A>C
NT_113891.3   g.3050294A=
NT_113891.3   g.3050294A>C
NT_167245.1   g.2826325C>A
NT_167245.2   g.2820740C>A
NT_167246.1   g.2883668C>A
NT_167246.2   g.2878048C>A
NT_167247.1   g.2920490C>A
NT_167247.2   g.2914905C>A
NT_167248.1   g.2834422C>A
NT_167248.2   g.2828826C>A
NT_167249.1   g.2871585C>A
NT_167249.2   g.2872287C>A
XP_011512917.1   p.Thr60Asn
XP_011512918.1   p.Thr60Asn
XP_011512919.1   p.Thr60Asn
XP_011512920.1   p.Thr60Asn
XR_926695.2   n.-303G>T
XR_952245.2   n.-280G>T
XR_952708.2   n.-295G>T
XR_952889.2   n.-303G>T
XR_952970.2   n.-295G>T
XR_953043.2   n.-295G>T
XR_953113.2   n.-303G>T
Clinical Significance: other

rs1121800

Strand:    Allele origin:   Allele change: A/T   Mutation type: snp

CM000668.2   g.31567297A>T
NC_000006.11   g.31535074A>T
NC_000006.12   g.31567297A>T
NG_012010.1   g.199A>T
NR_149045.1   n.121+5286T>A
NT_113891.2   g.3044710T=
NT_113891.2   g.3044710T>A
NT_113891.3   g.3044604T=
NT_113891.3   g.3044604T>A
NT_167245.1   g.2820633T=
NT_167245.1   g.2820633T>A
NT_167245.2   g.2815048T=
NT_167245.2   g.2815048T>A
NT_167246.1   g.2877964A>T
NT_167246.2   g.2872344A>T
NT_167247.1   g.2914803T=
NT_167247.1   g.2914803T>A
NT_167247.2   g.2909218T=
NT_167247.2   g.2909218T>A
NT_167248.1   g.2828732T=
NT_167248.1   g.2828732T>A
NT_167248.2   g.2823136T=
NT_167248.2   g.2823136T>A
NT_167249.1   g.2865876A>T
NT_167249.2   g.2866578A>T
XR_926695.2   n.122+5286T>A
XR_952245.2   n.145+5266T>A
XR_952708.2   n.132+5266T>A
XR_952889.2   n.122+5280T>A
XR_952970.2   n.132+5261T>A
XR_953043.2   n.132+5264T>A
XR_953113.2   n.122+5285T>A
rs1799724

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.31574705C>T
NC_000006.11   g.31542482C>T
NC_000006.12   g.31574705C>T
NG_007462.1   g.4133C>T
NG_012010.1   g.7607C>T
NM_000594.3   c.-1037C>T
NM_000595.3   c.*1012C>T
NM_001159740.2   c.*1012C>T
NT_113891.2   g.3052098C>T
NT_113891.3   g.3051992C>T
NT_167245.1   g.2828023C>T
NT_167245.2   g.2822438C>T
NT_167246.1   g.2885366C>T
NT_167246.2   g.2879746C>T
NT_167247.1   g.2922188C>T
NT_167247.2   g.2916603C>T
NT_167248.1   g.2836120C>T
NT_167248.2   g.2830524C>T
NT_167249.1   g.2873283C>T
NT_167249.2   g.2873985C>T
XR_952245.2   n.-1978G>A
XR_952708.2   n.-1993G>A
XR_952970.2   n.-1993G>A
XR_953043.2   n.-1993G>A
Clinical Significance: other

rs1799964

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.31574531T>C
NC_000006.11   g.31542308T>C
NC_000006.12   g.31574531T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NM_000594.3   c.-1211T>C
NM_000595.3   c.*838T>C
NM_001159740.2   c.*838T>C
NR_149045.1   n.-1828A>G
NT_113891.2   g.3051924T>C
NT_113891.3   g.3051818T>C
NT_167245.1   g.2827849C=
NT_167245.1   g.2827849C>T
NT_167245.2   g.2822264C=
NT_167245.2   g.2822264C>T
NT_167246.1   g.2885192T>C
NT_167246.2   g.2879572T>C
NT_167247.1   g.2922014C=
NT_167247.1   g.2922014C>T
NT_167247.2   g.2916429C=
NT_167247.2   g.2916429C>T
NT_167248.1   g.2835946C=
NT_167248.1   g.2835946C>T
NT_167248.2   g.2830350C=
NT_167248.2   g.2830350C>T
NT_167249.1   g.2873109T>C
NT_167249.2   g.2873811T>C
XR_926695.2   n.-1827A>G
XR_952245.2   n.-1804A>G
XR_952708.2   n.-1819A>G
XR_952889.2   n.-1827A>G
XR_952970.2   n.-1819A>G
XR_953043.2   n.-1819A>G
XR_953113.2   n.-1827A>G
rs1800630

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000668.2   g.31574699C>A
NC_000006.11   g.31542476C>A
NC_000006.12   g.31574699C>A
NG_007462.1   g.4127C>A
NG_012010.1   g.7601C>A
NM_000594.3   c.-1043C>A
NM_000595.3   c.*1006C>A
NM_001159740.2   c.*1006C>A
NR_149045.1   n.-1996G>T
NT_113891.2   g.3052092C>A
NT_113891.3   g.3051986C>A
NT_167245.1   g.2828017C>A
NT_167245.2   g.2822432C>A
NT_167246.1   g.2885360C>A
NT_167246.2   g.2879740C>A
NT_167247.1   g.2922182A=
NT_167247.1   g.2922182A>C
NT_167247.2   g.2916597A=
NT_167247.2   g.2916597A>C
NT_167248.1   g.2836114C>A
NT_167248.2   g.2830518C>A
NT_167249.1   g.2873277C>A
NT_167249.2   g.2873979C>A
XR_926695.2   n.-1995G>T
XR_952245.2   n.-1972G>T
XR_952708.2   n.-1987G>T
XR_952889.2   n.-1995G>T
XR_952970.2   n.-1987G>T
XR_953043.2   n.-1987G>T
XR_953113.2   n.-1995G>T
rs1800683

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31572294G>A
NC_000006.11   g.31540071G>A
NC_000006.12   g.31572294G>A
NG_007462.1   g.1722G>A
NG_012010.1   g.5196G>A
NM_000595.3   c.-162G>A
NM_001159740.2   c.-18G>A
NR_149045.1   n.121+289C>T
NT_113891.2   g.3049687A=
NT_113891.2   g.3049687A>G
NT_113891.3   g.3049581A=
NT_113891.3   g.3049581A>G
NT_167245.1   g.2825610G>A
NT_167245.2   g.2820025G>A
NT_167246.1   g.2882955G>A
NT_167246.2   g.2877335G>A
NT_167247.1   g.2919775G>A
NT_167247.2   g.2914190G>A
NT_167248.1   g.2833707G>A
NT_167248.2   g.2828111G>A
NT_167249.1   g.2870872G>A
NT_167249.2   g.2871574G>A
XR_926695.2   n.122+289C>T
XR_952245.2   n.145+289C>T
XR_952708.2   n.132+289C>T
XR_952889.2   n.122+289C>T
XR_952970.2   n.132+289C>T
XR_953043.2   n.132+289C>T
XR_953113.2   n.122+289C>T
rs2071590

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.31571991A>G
NC_000006.11   g.31539768A>G
NC_000006.12   g.31571991A>G
NG_007462.1   g.1419A>G
NG_012010.1   g.4893A>G
NM_000595.3   c.-465A>G
NM_001159740.2   c.-321A>G
NR_149045.1   n.121+592T>C
NT_113891.2   g.3049384G=
NT_113891.2   g.3049384G>A
NT_113891.3   g.3049278G=
NT_113891.3   g.3049278G>A
NT_167245.1   g.2825307G=
NT_167245.1   g.2825307G>A
NT_167245.2   g.2819722G=
NT_167245.2   g.2819722G>A
NT_167246.1   g.2882652A>G
NT_167246.2   g.2877032A>G
NT_167247.1   g.2919472G=
NT_167247.1   g.2919472G>A
NT_167247.2   g.2913887G=
NT_167247.2   g.2913887G>A
NT_167248.1   g.2833404G=
NT_167248.1   g.2833404G>A
NT_167248.2   g.2827808G=
NT_167248.2   g.2827808G>A
NT_167249.1   g.2870569A>G
NT_167249.2   g.2871271A>G
XR_926695.2   n.122+592T>C
XR_952245.2   n.145+592T>C
XR_952708.2   n.132+592T>C
XR_952889.2   n.122+592T>C
XR_952970.2   n.132+592T>C
XR_953043.2   n.132+592T>C
XR_953113.2   n.122+592T>C
rs2229092

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000668.2   g.31572980A>C
NC_000006.11   g.31540757A>C
NC_000006.12   g.31572980A>C
NG_007462.1   g.2408A>C
NG_012010.1   g.5882A>C
NM_000595.3   c.152A>C
NM_001159740.2   c.152A>C
NP_000586.2   p.His51Pro
NP_001153212.1   p.His51Pro
NR_149045.1   n.-277T>G
NT_113891.2   g.3050373A>C
NT_113891.3   g.3050267A>C
NT_167245.1   g.2826298A>C
NT_167245.2   g.2820713A>C
NT_167246.1   g.2883641A>C
NT_167246.2   g.2878021A>C
NT_167247.1   g.2920463A>C
NT_167247.2   g.2914878A>C
NT_167248.1   g.2834395A>C
NT_167248.2   g.2828799A>C
NT_167249.1   g.2871558A>C
NT_167249.2   g.2872260A>C
XP_011512917.1   p.His51Pro
XP_011512918.1   p.His51Pro
XP_011512919.1   p.His51Pro
XP_011512920.1   p.His51Pro
XR_926695.2   n.-276T>G
XR_952245.2   n.-253T>G
XR_952708.2   n.-268T>G
XR_952889.2   n.-276T>G
XR_952970.2   n.-268T>G
XR_953043.2   n.-268T>G
XR_953113.2   n.-276T>G
rs2229094

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.31572779T>C
NC_000006.11   g.31540556T>C
NC_000006.12   g.31572779T>C
NG_007462.1   g.2207T>C
NG_012010.1   g.5681T>C
NM_000595.3   c.37T>C
NM_001159740.2   c.37T>C
NP_000586.2   p.Cys13Arg
NP_001153212.1   p.Cys13Arg
NR_149045.1   n.-76A>G
NT_113891.2   g.3050172T>C
NT_113891.3   g.3050066T>C
NT_167245.1   g.2826097C=
NT_167245.1   g.2826097C>T
NT_167245.2   g.2820512C=
NT_167245.2   g.2820512C>T
NT_167246.1   g.2883440T>C
NT_167246.2   g.2877820T>C
NT_167247.1   g.2920262C=
NT_167247.1   g.2920262C>T
NT_167247.2   g.2914677C=
NT_167247.2   g.2914677C>T
NT_167248.1   g.2834194C=
NT_167248.1   g.2834194C>T
NT_167248.2   g.2828598C=
NT_167248.2   g.2828598C>T
NT_167249.1   g.2871357T>C
NT_167249.2   g.2872059T>C
XP_011512917.1   p.Cys13Arg
XP_011512918.1   p.Cys13Arg
XP_011512919.1   p.Cys13Arg
XP_011512920.1   p.Cys13Arg
XR_926695.2   n.-75A>G
XR_952245.2   n.-52A>G
XR_952708.2   n.-67A>G
XR_952889.2   n.-75A>G
XR_952970.2   n.-67A>G
XR_953043.2   n.-67A>G
XR_953113.2   n.-75A>G
rs2239704

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000668.2   g.31572364A>C
NC_000006.11   g.31540141A=
NC_000006.11   g.31540141A>C
NC_000006.12   g.31572364A=
NC_000006.12   g.31572364A>C
NG_007462.1   g.1792A=
NG_007462.1   g.1792A>C
NG_012010.1   g.5266A=
NG_012010.1   g.5266A>C
NM_000595.3   c.-92A=
NM_000595.3   c.-92A>C
NM_001159740.2   c.-10+62A=
NM_001159740.2   c.-10+62A>C
NR_149045.1   n.121+219T=
NR_149045.1   n.121+219T>G
NT_113891.2   g.3049757C=
NT_113891.2   g.3049757C>A
NT_113891.3   g.3049651C=
NT_113891.3   g.3049651C>A
NT_167245.1   g.2825680C=
NT_167245.1   g.2825680C>A
NT_167245.2   g.2820095C=
NT_167245.2   g.2820095C>A
NT_167246.1   g.2883025A=
NT_167246.1   g.2883025A>C
NT_167246.2   g.2877405A=
NT_167246.2   g.2877405A>C
NT_167247.1   g.2919845C=
NT_167247.1   g.2919845C>A
NT_167247.2   g.2914260C=
NT_167247.2   g.2914260C>A
NT_167248.1   g.2833777C=
NT_167248.1   g.2833777C>A
NT_167248.2   g.2828181C=
NT_167248.2   g.2828181C>A
NT_167249.1   g.2870942A=
NT_167249.1   g.2870942A>C
NT_167249.2   g.2871644A=
NT_167249.2   g.2871644A>C
XR_926695.2   n.122+219T=
XR_926695.2   n.122+219T>G
XR_952245.2   n.145+219T=
XR_952245.2   n.145+219T>G
XR_952708.2   n.132+219T=
XR_952708.2   n.132+219T>G
XR_952889.2   n.122+219T=
XR_952889.2   n.122+219T>G
XR_952970.2   n.132+219T=
XR_952970.2   n.132+219T>G
XR_953043.2   n.132+219T=
XR_953043.2   n.132+219T>G
XR_953113.2   n.122+219T=
XR_953113.2   n.122+219T>G
Clinical Significance: other

rs2844482

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31571990C>T
NC_000006.11   g.31539767C>T
NC_000006.12   g.31571990C>T
NG_007462.1   g.1418C>T
NG_012010.1   g.4892C>T
NM_000595.3   c.-466C>T
NM_001159740.2   c.-322C>T
NR_149045.1   n.121+593G>A
NT_113891.2   g.3049383C>T
NT_113891.3   g.3049277C>T
NT_167245.1   g.2825306C>T
NT_167245.2   g.2819721C>T
NT_167246.1   g.2882651C>T
NT_167246.2   g.2877031C>T
NT_167247.1   g.2919471T=
NT_167247.1   g.2919471T>C
NT_167247.2   g.2913886T=
NT_167247.2   g.2913886T>C
NT_167248.1   g.2833403C>T
NT_167248.2   g.2827807C>T
NT_167249.1   g.2870568C>T
NT_167249.2   g.2871270C>T
XR_926695.2   n.122+593G>A
XR_952245.2   n.145+593G>A
XR_952708.2   n.132+593G>A
XR_952889.2   n.122+593G>A
XR_952970.2   n.132+593G>A
XR_953043.2   n.132+593G>A
XR_953113.2   n.122+593G>A
rs2844483

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000668.2   g.31569019T>G
NC_000006.11   g.31536796T>G
NC_000006.12   g.31569019T>G
NG_012010.1   g.1921T>G
NR_149045.1   n.121+3564A>C
NT_113891.2   g.3046415G=
NT_113891.2   g.3046415G>T
NT_113891.3   g.3046309G=
NT_113891.3   g.3046309G>T
NT_167245.1   g.2822338G=
NT_167245.1   g.2822338G>T
NT_167245.2   g.2816753G=
NT_167245.2   g.2816753G>T
NT_167246.1   g.2879680T>G
NT_167246.2   g.2874060T>G
NT_167247.1   g.2916504G=
NT_167247.1   g.2916504G>T
NT_167247.2   g.2910919G=
NT_167247.2   g.2910919G>T
NT_167248.1   g.2830435G=
NT_167248.1   g.2830435G>T
NT_167248.2   g.2824839G=
NT_167248.2   g.2824839G>T
NT_167249.1   g.2867598T>G
NT_167249.2   g.2868300T>G
XR_926695.2   n.122+3564A>C
XR_952245.2   n.145+3561A>C
XR_952708.2   n.132+3561A>C
XR_952889.2   n.122+3564A>C
XR_952970.2   n.132+3560A>C
XR_953043.2   n.132+3561A>C
XR_953113.2   n.122+3563A>C
rs2844484

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.31568447A>G
NC_000006.11   g.31536224A>G
NC_000006.12   g.31568447A>G
NG_012010.1   g.1349A>G
NR_149045.1   n.121+4136T>C
NT_113891.2   g.3045843G=
NT_113891.2   g.3045843G>A
NT_113891.3   g.3045737G=
NT_113891.3   g.3045737G>A
NT_167245.1   g.2821766G=
NT_167245.1   g.2821766G>A
NT_167245.2   g.2816181G=
NT_167245.2   g.2816181G>A
NT_167246.1   g.2879108A>G
NT_167246.2   g.2873488A>G
NT_167247.1   g.2915932G=
NT_167247.1   g.2915932G>A
NT_167247.2   g.2910347G=
NT_167247.2   g.2910347G>A
NT_167248.1   g.2829863G=
NT_167248.1   g.2829863G>A
NT_167248.2   g.2824267G=
NT_167248.2   g.2824267G>A
NT_167249.1   g.2867026A>G
NT_167249.2   g.2867728A>G
XR_926695.2   n.122+4136T>C
XR_952245.2   n.145+4133T>C
XR_952708.2   n.132+4133T>C
XR_952889.2   n.122+4136T>C
XR_952970.2   n.132+4132T>C
XR_953043.2   n.132+4133T>C
XR_953113.2   n.122+4135T>C
rs2844486

Strand:    Allele origin:   Allele change: A/C/G/T   Mutation type: snp

CM000668.2   g.31566093A>C
CM000668.2   g.31566093A>G
CM000668.2   g.31566093A>T
NC_000006.12   g.31566093A>C
NC_000006.12   g.31566093A>G
NC_000006.12   g.31566093A>T
NR_149045.1   n.122-5367T>A
NR_149045.1   n.122-5367T>C
NR_149045.1   n.122-5367T>G
NT_113891.2   g.3043508G=
NT_113891.2   g.3043508G>A
NT_113891.3   g.3043402G=
NT_113891.3   g.3043402G>A
NT_113891.3   g.3043402G>C
NT_113891.3   g.3043402G>T
NT_167245.1   g.2819431G=
NT_167245.1   g.2819431G>A
NT_167245.2   g.2813846G=
NT_167245.2   g.2813846G>A
NT_167245.2   g.2813846G>C
NT_167245.2   g.2813846G>T
NT_167246.1   g.2876760A>G
NT_167246.2   g.2871140A>C
NT_167246.2   g.2871140A>G
NT_167246.2   g.2871140A>T
NT_167247.1   g.2913600G=
NT_167247.1   g.2913600G>A
NT_167247.2   g.2908015G=
NT_167247.2   g.2908015G>A
NT_167247.2   g.2908015G>C
NT_167247.2   g.2908015G>T
NT_167248.1   g.2827530G=
NT_167248.1   g.2827530G>A
NT_167248.2   g.2821934G=
NT_167248.2   g.2821934G>A
NT_167248.2   g.2821934G>C
NT_167248.2   g.2821934G>T
NT_167249.1   g.2864672A>G
NT_167249.2   g.2865374A>C
NT_167249.2   g.2865374A>G
NT_167249.2   g.2865374A>T
XR_926695.2   n.122+6490T>A
XR_926695.2   n.122+6490T>C
XR_926695.2   n.122+6490T>G
XR_952245.2   n.145+6468T>A
XR_952245.2   n.145+6468T>C
XR_952245.2   n.145+6468T>G
XR_952708.2   n.132+6468T>A
XR_952708.2   n.132+6468T>C
XR_952708.2   n.132+6468T>G
XR_952889.2   n.122+6484T>A
XR_952889.2   n.122+6484T>C
XR_952889.2   n.122+6484T>G
XR_952970.2   n.132+6464T>A
XR_952970.2   n.132+6464T>C
XR_952970.2   n.132+6464T>G
XR_953043.2   n.132+6466T>A
XR_953043.2   n.132+6466T>C
XR_953043.2   n.132+6466T>G
XR_953113.2   n.122+6489T>A
XR_953113.2   n.122+6489T>C
XR_953113.2   n.122+6489T>G
rs2857602

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.31565601G>A
NC_000006.12   g.31565601G>A
NR_149045.1   n.122-4875C>T
NT_113891.2   g.3043016A=
NT_113891.2   g.3043016A>G
NT_113891.3   g.3042910A=
NT_113891.3   g.3042910A>G
NT_167245.1   g.2818939A=
NT_167245.1   g.2818939A>G
NT_167245.2   g.2813354A=
NT_167245.2   g.2813354A>G
NT_167246.1   g.2876268G>A
NT_167246.2   g.2870648G>A
NT_167247.1   g.2913108A=
NT_167247.1   g.2913108A>G
NT_167247.2   g.2907523A=
NT_167247.2   g.2907523A>G
NT_167248.1   g.2827038A=
NT_167248.1   g.2827038A>G
NT_167248.2   g.2821442A=
NT_167248.2   g.2821442A>G
NT_167249.1   g.2864180G>A
NT_167249.2   g.2864882G>A
XR_926695.2   n.122+6982C>T
XR_952245.2   n.145+6960C>T
XR_952708.2   n.132+6960C>T
XR_952889.2   n.122+6976C>T
XR_952970.2   n.132+6956C>T
XR_953043.2   n.132+6958C>T
XR_953113.2   n.122+6981C>T
rs4647191

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31570861G>A
NC_000006.11   g.31538638G>A
NC_000006.12   g.31570861G>A
NG_007462.1   g.289G>A
NG_012010.1   g.3763G>A
NM_000595.3   c.-1595G>A
NM_001159740.2   c.-1451G>A
NR_149045.1   n.121+1722C>T
NT_113891.2   g.3048255G>A
NT_113891.3   g.3048149G>A
NT_167245.1   g.2824178G>A
NT_167245.2   g.2818593G>A
NT_167246.1   g.2881522G>A
NT_167246.2   g.2875902G>A
NT_167247.1   g.2918344G>A
NT_167247.2   g.2912759G>A
NT_167248.1   g.2832275G>A
NT_167248.2   g.2826679G>A
NT_167249.1   g.2869440G>A
NT_167249.2   g.2870142G>A
XR_926695.2   n.122+1722C>T
XR_952245.2   n.145+1721C>T
XR_952708.2   n.132+1721C>T
XR_952889.2   n.122+1722C>T
XR_952970.2   n.132+1720C>T
XR_953043.2   n.132+1721C>T
XR_953113.2   n.122+1721C>T
rs909253

Strand:    Allele origin: T(germline)/C(germline)  Allele change: A/C/T   Mutation type: snp

CM000668.2   g.31572536A>G
CM000668.2   g.31572536A>T
NC_000006.11   g.31540313A>G
NC_000006.12   g.31572536A>G
NC_000006.12   g.31572536A>T
NG_007462.1   g.1964A>G
NG_007462.1   g.1964A>T
NG_012010.1   g.5438A>G
NG_012010.1   g.5438A>T
NM_000595.3   c.-10+90A>G
NM_000595.3   c.-10+90A>T
NM_001159740.2   c.-9-198A>G
NM_001159740.2   c.-9-198A>T
NR_149045.1   n.121+47T>A
NR_149045.1   n.121+47T>C
NT_113891.2   g.3049929G=
NT_113891.2   g.3049929G>A
NT_113891.3   g.3049823G=
NT_113891.3   g.3049823G>A
NT_113891.3   g.3049823G>T
NT_167245.1   g.2825852A>G
NT_167245.2   g.2820267A>G
NT_167245.2   g.2820267A>T
NT_167246.1   g.2883197A>G
NT_167246.2   g.2877577A>G
NT_167246.2   g.2877577A>T
NT_167247.1   g.2920017A>G
NT_167247.2   g.2914432A>G
NT_167247.2   g.2914432A>T
NT_167248.1   g.2833949A>G
NT_167248.2   g.2828353A>G
NT_167248.2   g.2828353A>T
NT_167249.1   g.2871114A>G
NT_167249.2   g.2871816A>G
NT_167249.2   g.2871816A>T
XR_926695.2   n.122+47T>A
XR_926695.2   n.122+47T>C
XR_952245.2   n.145+47T>A
XR_952245.2   n.145+47T>C
XR_952708.2   n.132+47T>A
XR_952708.2   n.132+47T>C
XR_952889.2   n.122+47T>A
XR_952889.2   n.122+47T>C
XR_952970.2   n.132+47T>A
XR_952970.2   n.132+47T>C
XR_953043.2   n.132+47T>A
XR_953043.2   n.132+47T>C
XR_953113.2   n.122+47T>A
XR_953113.2   n.122+47T>C
Clinical Significance: other

Protein Summary
Protein general information P01374  

Name: Lymphotoxin alpha (LT alpha) (TNF beta) (Tumor necrosis factor ligand superfamily member 1)

Length: 205  Mass: 22,297

Sequence MTPPERLFLPRVCGTTLHLLLLGLLLVLLPGAQGLPGVGLTPSAAQTARQHPKMHLAHSTLKPAAHLIGDPSKQN
SLLWRANTDRAFLQDGFSLSNNSLLVPTSGIYFVYSQVVFSGKAYSPKATSSPLYLAHEVQLFSSQYPFHVPLLS
SQKMVYPGLQEPWLHSMYHGAAFQLTQGDQLSTHTDGIPHLVLSPSTVFFGAFAL
Structural information
Interpro:  IPR006053 IPR002960 IPR021184 IPR006052 IPR008983
Prosite:   PS00251 PS50049

Pfam:  		 PF00229

PDB:  		 1TNR 4MXV 4MXW
PDBsum:   1TNR 4MXV 4MXW

DIP:  		 2910
MINT:   365276
STRING:   ENSP00000403495;
Other Databases GeneCards:  LTA;  Malacards:  LTA

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001666 response to hypoxia
 IEA biological_process
GO:0002876 positive regulation of ch
ronic inflammatory respon
se to antigenic stimulus
 IEA biological_process
GO:0002925 positive regulation of hu
moral immune response med
iated by circulating immu
noglobulin
 IEA biological_process
GO:0005102 receptor binding
 TAS molecular_function
GO:0005125 cytokine activity
 IEA molecular_function
GO:0005164 tumor necrosis factor rec
eptor binding
 IEA molecular_function
GO:0005615 extracellular space
 IEA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0006915 apoptotic process
 TAS biological_process
GO:0006959 humoral immune response
 IEA biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0007584 response to nutrient
 IEA biological_process
GO:0032496 response to lipopolysacch
aride
 IEA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
 IEA biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
 TAS biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
 TAS biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0043065 positive regulation of ap
optotic process
 IEA biological_process
GO:0044130 negative regulation of gr
owth of symbiont in host
 IEA biological_process
GO:0048147 negative regulation of fi
broblast proliferation
 IEA biological_process
GO:0048535 lymph node development
 IEA biological_process
GO:0050830 defense response to Gram-
positive bacterium
 IEA biological_process
GO:0060252 positive regulation of gl
ial cell proliferation
 IEA biological_process
GO:0001666 response to hypoxia
 IEA biological_process
GO:0002876 positive regulation of ch
ronic inflammatory respon
se to antigenic stimulus
 IEA biological_process
GO:0002925 positive regulation of hu
moral immune response med
iated by circulating immu
noglobulin
 IEA biological_process
GO:0005102 receptor binding
 TAS molecular_function
GO:0005125 cytokine activity
 IEA molecular_function
GO:0005164 tumor necrosis factor rec
eptor binding
 IEA molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0006915 apoptotic process
 TAS biological_process
GO:0006955 immune response
 IEA biological_process
GO:0006959 humoral immune response
 IEA biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0007584 response to nutrient
 IEA biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0032496 response to lipopolysacch
aride
 IEA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
 IEA biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
 TAS biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
 TAS biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0043065 positive regulation of ap
optotic process
 IEA biological_process
GO:0044130 negative regulation of gr
owth of symbiont in host
 IEA biological_process
GO:0048147 negative regulation of fi
broblast proliferation
 IEA biological_process
GO:0048535 lymph node development
 IEA biological_process
GO:0050830 defense response to Gram-
positive bacterium
 IEA biological_process
GO:0060252 positive regulation of gl
ial cell proliferation
 IEA biological_process
GO:0005102 receptor binding
 TAS molecular_function
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0006915 apoptotic process
 TAS biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
 TAS biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
 TAS biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05166  HTLV-I infection
hsa05168  Herpes simplex infection
hsa04668  TNF signaling pathway
hsa04064  NF-kappa B signaling pathway
hsa04940  Type I diabetes mellitus

Diseases

Associated diseases References
Alzheimer's disease PMID: 12434654
Amyotrophic lateral sclerosis (ALS) PMID: 18513389
Asthma PMID: 11591192
Atopy PMID: 11591192
Autoimmune diseases PMID: 18657583
Azoospermia PMID: 11732226
Behcet's disease PMID: 20622878
Cancer PMID: 7889473
Cerebral palsy PMID: 18977990
Chronic immune thrombocytopenic purpura PMID: 15009068
Chronic obstructive pulmonary disease (COPD) PMID: 12661999
Chronic periodontitis PMID: 12828656
Chronic prostatitis PMID: 19800664
Crohn's disease PMID: 19550417
Cystic fibrosis PMID: 19009622
Diabetes PMID: 7783649
Diabetic nephropathy PMID: 17345061
Diabetic retinopathy PMID: 11399938
Disorders of spermatogenesis PMID: 11732226
Dysmenorrhea PMID: 14607563
Embryo implantation PMID: 9572429
Endometriosis PMID: 17595314
Glomerulonephritis PMID: 19420105
Graves disease PMID: 15639929
HESC decidualization PMID: 18434375
Hypothyroidism PMID: 15236755
Insulin resistance PMID: 9245742
Kidney disease PMID: 19578796
Limb deficiency defects PMID: 17036337
Lung disease PMID: 18797991
Metabolic syndrome PMID: 19034549
Multiple sclerosis PMID: 16872485
Myocardial infarction OMIM: 153440
Obesity PMID: 9245742
Oligoasthenospermia PMID: 11732226
Osteoarthritis PMID: 12421093
Osteoporosis PMID: 19369902
Palmoplantar pustulosis PMID: 12691703
Periodontitis PMID: 11210078
Endometriosis INFBASE16939911
Polycystic ovary syndrome (PCOS) PMID: 11775944
Preterm delivery PMID: 15951664
Psoriasis OMIM: 153440
Recurrent miscarriage PMID: 15811521
Respiratory distress syndrome PMID: 16135717
Restenosis PMID: 12082592
Rheumatoid arthritis PMID: 15457442
Sepsis PMID: 12558135
Systemic lupus erythematosus PMID: 15219382
Ulcerative colitis PMID: 15843211
Uveitis PMID: 15851552

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17767060 Endometrio
sis
 TNF-beta (+252 site)
162 (82 patient
s with endometr
iosis (the endo
metriosis group
), 80 patients
without endomet
riosis (the con
trol group))
 TNF-beta
 Show abstract
16939911 Endometrio
sis
 TNF-beta (+252 site) Chinese
Han
 162 (82 patient
s with endometr
iosis, 80 patie
nts without end
ometriosis (con
trol group))
 TNF-beta
 Show abstract