Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 115352
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol FCRL3   Gene   UCSC   Ensembl
Aliases CD307c, FCRH3, IFGP3, IRTA3, SPAP2
Gene name Fc receptor like 3
Alternate names Fc receptor-like protein 3, Fc receptor homolog 3, IFGP family protein 3, SH2 domain-containing phosphatase anchor protein 2, fcR-like protein 3, hIFGP3, immune receptor translocation-associated protein 3, immunoglobulin superfamily receptor translocation associ,
Gene location 1q23.1 (157700984: 157676480)     Exons: 16     NC_000001.11
Gene summary(Entrez) This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
OMIM 606510

SNPs

rs11264799

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

CM000663.2   g.157700967C>T
NC_000001.10   g.157670757C>T
NC_000001.11   g.157700967C>T
NG_023241.1   g.4891G>A
NM_001320333.1   c.-402G>A
NM_052939.3   c.-402G>A
NR_135214.1   n.-95G>A
NR_135215.1   n.-95G>A
NR_135216.1   n.-95G>A
NR_135217.1   n.-95G>A
XR_241064.1   n.-204G>A
XR_241065.1   n.-204G>A
XR_241066.1   n.-204G>A
rs945635

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

  
XM_006711145.1   c.-11G>C
XM_006711145.1   c.-11G>T
NM_001320333.1   c.-11G>C
NM_001320333.1   c.-11G>T
XM_005244872.1   c.-11G>C
XM_005244872.1   c.-11G>T
XM_005244870.1   c.-11G>C
XM_005244870.1   c.-11G>T
XM_005244871.1   c.-11G>C
XM_005244871.1   c.-11G>T
NR_135214.1   n.
rs3761959

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

  
NC_000001.10   g.157669278C>T
NC_000001.11   g.157699488C>T
NG_023241.1   g.6370G>A
NM_001320333.1   c.52+204G>A
NM_052939.3   c.52+204G>A
NR_135217.1   n.359+204G>A
NR_135216.1   n.359+204G>A
NR_135215.1   n.359+204G>A
NR_135214.1   n.359+204G>A
XM_005244872.1   c.52+204G>
rs7528684

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

  
NC_000001.10   g.157670816A>G
NC_000001.11   g.157701026A>G
NG_023241.1   g.4832T>C
NM_001320333.1   c.-461T>C
NM_052939.3   c.-461T>C
NR_135216.1   n.-154T>C
NR_135215.1   n.-154T>C
NR_135217.1   n.-154T>C
NR_135214.1   n.-154T>C
XM_005244871.1   c.-263T>C
XM_005244872.1   c

Protein Summary

Protein general information Q96P31  

Name: Fc receptor like protein 3 (FcR like protein 3) (FcRL3) (Fc receptor homolog 3) (FcRH3) (IFGP family protein 3) (hIFGP3) (Immune receptor translocation associated protein 3) (SH2 domain containing phosphatase anchor protein 2) (CD antigen CD307c)

Length: 734  Mass: 80,856

Tissue specificity: Primarily expressed in secondary lymphoid tissues by mature subsets of B-cells. Detected in spleen, lymph node, peripheral blood lymphocytes, thymus, bone marrow, kidney, salivary gland, adrenal gland and uterus. Expressed a low levels

Sequence MLLWLLLLILTPGREQSGVAPKAVLLLNPPWSTAFKGEKVALICSSISHSLAQGDTYWYHDEKLLKIKHDKIQIT
EPGNYQCKTRGSSLSDAVHVEFSPDWLILQALHPVFEGDNVILRCQGKDNKNTHQKVYYKDGKQLPNSYNLEKIT
VNSVSRDNSKYHCTAYRKFYILDIEVTSKPLNIQVQELFLHPVLRASSSTPIEGSPMTLTCETQLSPQRPDVQLQ
FSLFRDSQTLGLGWSRSPRLQIPAMWTEDSGSYWCEVETVTHSIKKRSLRSQIRVQRVPVSNVNLEIRPTGGQLI
EGENMVLICSVAQGSGTVTFSWHKEGRVRSLGRKTQRSLLAELHVLTVKESDAGRYYCAADNVHSPILSTWIRVT
VRIPVSHPVLTFRAPRAHTVVGDLLELHCESLRGSPPILYRFYHEDVTLGNSSAPSGGGASFNLSLTAEHSGNYS
CDADNGLGAQHSHGVSLRVTVPVSRPVLTLRAPGAQAVVGDLLELHCESLRGSFPILYWFYHEDDTLGNISAHSG
GGASFNLSLTTEHSGNYSCEADNGLGAQHSKVVTLNVTGTSRNRTGLTAAGITGLVLSILVLAAAAALLHYARAR
RKPGGLSATGTSSHSPSECQEPSSSRPSRIDPQEPTHSKPLAPMELEPMYSNVNPGDSNPIYSQIWSIQHTKENS
ANCPMMHQEHEELTVLYSELKKTHPDDSAGEASSRGRAHEEDDEENYENVPRVLLASDH
Structural information
Protein Domains
Ig-like (21-98)
Ig-like (99-182)
Ig-like (192-270)
Ig-like (284-369)
Ig-like (383-470)
Ig-like (476-563)

Motifs
ITIM motif(648-653)
ITIM motif(660-665)
ITIM motif(690-695)
ITIM motif(720-725)
Interpro:  IPR007110 IPR013783 IPR003599 IPR003598 IPR013151
Prosite:   PS50835

Pfam:  
PF00047 PF13895
STRING:   ENSP00000357167;
Other Databases GeneCards:  FCRL3;  Malacards:  FCRL3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005886 plasma membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component

Diseases

Associated diseases References
Arthritis PMID: 19235910
Behcet's disease PMID: 19050767
Crohn's disease PMID: 17389014
Diabetes PMID: 21829393
Endometriosis PMID: 22341374
Graves disease PMID: 16384851
Multiple sclerosis PMID: 17617473
Endometriosis associated infertility INFBASE26334889
Endometriosis INFBASE21529967
Rheumatoid arthritis PMID: 16176992
Schizophrenia PMID: 19158815
Systemic lupus erythematosus PMID: 18556175
Uveomeningo encephalitic syndrome PMID: 19452015

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22341374 Endometrio
sis
FOXP3 C-2383T/rs3761549, FCRL3 C-169T/rs7528684
357 (188 infert
ile women, 169
controls)
Female infertility
Show abstract
21663782 Endometrio
sis
FCRL3 polymorphisms (-169C/T, -110G/A, +358C/G and +1381 A/G) Brazili
an
427 (170 women
with endometrio
sis-related inf
ertility, 91 wo
men with idiopa
thic infertilit
y, 166 controls
)
Female infertility FCRL3
Show abstract
26334889 Endometrio
sis
FCRL3 (rs7528684, rs11264799, rs945635, rs3761959) Han Chi
nese
437 (217 patien
ts suffering fr
om endometriosi
s-related infer
tility, 220 hea
lthy controls)
Female infertility
Show abstract
23553198 Endometrio
sis realte
d infertil
ity
FCRL3 -169T>C polymorphism Polish
660 (141 infert
ile women with
endometriosis,
519 fertile wom
en)
Female infertility FCRL3
Show abstract
21529967 Endometrio
sis
FCRL3 (C-169T)
334 (167 infert
ile women with
endometriosis,
60 women with i
diopathic infer
tility and 167
fertile women)
Female infertility FCRL3
Show abstract