Endometriosis Knowledgebase

Search Result

Gene id

4585

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

Gene Summary

Gene Symbol

MUC4 Gene UCSC Ensembl

Aliases

ASGP, HSA276359, MUC-4

Gene name

mucin 4, cell surface associated

Alternate names

mucin-4, ascites sialoglycoprotein, mucin 4, tracheobronchial, pancreatic adenocarcinoma mucin, testis mucin, tracheobronchial mucin,

Gene location

3q29 (195811972: 195746764) Exons: 25 NC_000003.12

Gene summary(Entrez)

The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]

OMIM

158372

SNPs

rs882605

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

NC_000003.11   g.195517553A>C
NC_000003.12   g.195790682A>C
NM_018406.6   c.898T>G
NM_001322468.1   c.913G=
NM_001322468.1   c.913G>T
NM_004532.5   c.83-12227T>G
NT_187649.1   g.4054T>G
NT_187690.1   g.4054T>G
NT_187688.1   g.4054T>G
NT_187689.1   g.160516C=
NT_187689.1   g.16
rs1104760

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


NC_000003.12   g.195790450G>A
NC_000003.12   g.195790450G>T
NC_000003.11   g.195517321G>A
NM_001322468.1   c.1145T=
NM_001322468.1   c.1145T>A
NM_001322468.1   c.1145T>C
NM_004532.5   c.83-11995C>A
NM_004532.5   c.83-11995C>T
NM_018406.6   c.1130C>A
NM_018406.6   c.1130C>T

rs2246901

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


NC_000003.12   g.195762138C>A
NC_000003.11   g.195489009C>A
NM_004532.5   c.1753G>T
NM_001322468.1   c.20479G>T
NM_018406.6   c.14461G>T
NM_138297.4   c.1600G>T
NP_612154.2   p.Ala534Ser
NP_060876.5   p.Ala4821Ser
NP_004523.3   p.Ala585Ser
NP_001309397.1   p.Ala6827Ser
NT_1
rs2258447

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

NC_000003.12   g.195752385T>C
NC_000003.11   g.195479256T>C
NM_001322468.1   c.21588A>G
NM_004532.5   c.2862A>G
NM_018406.6   c.15570A>G
NT_187678.1   g.43657G=
NT_187678.1   g.43657G>A
NT_187691.1   g.42351A>G
NT_187690.1   g.42351A>G
NT_187688.1   g.42351A>G
NT_187689.1   g.
rs2291652

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

NC_000003.11   g.195477791G>A
NC_000003.12   g.195750920G>A
NM_004532.5   c.3132C>T
NM_001322468.1   c.21858C>T
NM_018406.6   c.15840C>T
NT_187649.1   g.43816C>T
NT_187691.1   g.43816C>T
NT_187690.1   g.43816C>T
NT_187689.1   g.121417G>A
NT_187688.1   g.43816C>T
NT_187678.1
rs2688513

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


NC_000003.11   g.195505664G>A
NC_000003.12   g.195778793G>A
NM_001322468.1   c.18805T=
NM_001322468.1   c.18805T>C
NM_004532.5   c.83-338C>T
NM_018406.6   c.12787C>T
NT_187688.1   g.15943C>T
NT_187689.1   g.148571A=
NT_187689.1   g.148571A>G
NT_187690.1   g.15943C>T
NT_1876

Protein Summary

Protein general information

Q99102

Name: Mucin 4 (MUC 4) (Ascites sialoglycoprotein) (ASGP) (Pancreatic adenocarcinoma mucin) (Testis mucin) (Tracheobronchial mucin) [Cleaved into: Mucin 4 alpha chain (Ascites sialoglycoprotein 1) (ASGP 1); Mucin 4 beta chain (Ascites sialoglycoprotein 2) (ASGP

Length: 2169 Mass: 231,518

Tissue specificity: Expressed in the thymus, thyroid, lung, trachea, esophagus, stomach, small intestine, colon, testis, prostate, ovary, uterus, placenta, and mammary and salivary glands. Expressed in carcinomas arising from some of these epithelia, such

Sequence

MKGARWRRVPWVSLSCLCLCLLPHVVPGTTEDTLITGSKTAAPVTSTGSTTATLEGQSTAASSRTSNQDISASSQ
NHQTKSTETTSKAQTDTLTQMMTSTLFSSPSVHNVMETVTQETAPPDEMTTSFPSSVTNTLMMTSKTITMTTSTD
STLGNTEETSTAGTESSTPVTSAVSITAGQEGQSRTTSWRTSIQDTSASSQNHWTRSTQTTRESQTSTLTHRTTS
TPSFSPSVHNVTGTVSQKTSPSGETATSSLCSVTNTSMMTSEKITVTTSTGSTLGNPGETSSVPVTGSLMPVTSA
ALVTVDPEGQSPATFSRTSTQDTTAFSKNHQTQSVETTRVSQINTLNTLTPVTTSTVLSSPSGFNPSGTVSQETF
PSGETTISSPSSVSNTFLVTSKVFRMPISRDSTLGNTEETSLSVSGTISAITSKVSTIWWSDTLSTALSPSSLPP
KISTAFHTQQSEGAETTGRPHERSSFSPGVSQEIFTLHETTTWPSSFSSKGHTTWSQTELPSTSTGAATRLVTGN
PSTRAAGTIPRVPSKVSAIGEPGEPTTYSSHSTTLPKTTGAGAQTQWTQETGTTGEALLSSPSYSVIQMIKTATS
PSSSPMLDRHTSQQITTAPSTNHSTIHSTSTSPQESPAVSQRGHTRAPQTTQESQTTRSVSPMTDTKTVTTPGSS
FTASGHSPSEIVPQDAPTISAATTFAPAPTGNGHTTQAPTTALQAAPSSHDATLGPSGGTSLSKTGALTLANSVV
STPGGPEGQWTSASASTSPDTAAAMTHTHQAESTEASGQTQTSEPASSGSRTTSAGTATPSSSGASGTTPSGSEG
ISTSGETTRFSSNPSRDSHTTQSTTELLSASASHGAIPVSTGMASSIVPGTFHPTLSEASTAGRPTGQSSPTSPS
ASPQETAAISRMAQTQRTGTSRGSDTISLASQATDTFSTVPPTPPSITSSGLTSPQTQTHTLSPSGSGKTFTTAL
ISNATPLPVTSTSSASTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIIST
IPSTAMHTRSTAAPIPILPERGVSLFPYGAGAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIF
PESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGY
KARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENS
PLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLR
FQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRR
PHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYR
SSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNI
LHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTP
VFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQ
TTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCL
YNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQ
NQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNA
SVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRS
EEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPR
CSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP

Structural information

Protein Domains	NIDO. (1154-1309) AMOP. (1310-1425) VWFD. (1438-1673) EGF-like (1875-1914)
Interpro:	IPR005533 IPR000742 IPR003886 IPR001846
Prosite:	PS50856 PS00022 PS50026 PS51220 PS51233
Pfam:	PF06119 PF00094
STRING:	ENSP00000417498;

Other Databases

GeneCards: MUC4; Malacards: MUC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005176	ErbB-2 class receptor bin ding	TAS	molecular_function
GO:0005578	proteinaceous extracellul ar matrix	NAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007160	cell-matrix adhesion	IEA	biological_process
GO:0016020	membrane	NAS	cellular_component
GO:0016266	O-glycan processing	TAS	biological_process
GO:0016266	O-glycan processing	TAS	biological_process
GO:0030197	extracellular matrix cons tituent, lubricant activi ty	NAS	molecular_function
GO:0030277	maintenance of gastrointe stinal epithelium	IMP	biological_process
GO:0031982	vesicle	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0005176	ErbB-2 class receptor bin ding	TAS	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	NAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007155	cell adhesion	IEA	biological_process
GO:0007160	cell-matrix adhesion	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	NAS	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016266	O-glycan processing	TAS	biological_process
GO:0016266	O-glycan processing	TAS	biological_process
GO:0030197	extracellular matrix cons tituent, lubricant activi ty	NAS	molecular_function
GO:0030277	maintenance of gastrointe stinal epithelium	IMP	biological_process
GO:0031982	vesicle	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0005176	ErbB-2 class receptor bin ding	TAS	molecular_function
GO:0005578	proteinaceous extracellul ar matrix	NAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0016020	membrane	NAS	cellular_component
GO:0016266	O-glycan processing	TAS	biological_process
GO:0016266	O-glycan processing	TAS	biological_process
GO:0030197	extracellular matrix cons tituent, lubricant activi ty	NAS	molecular_function
GO:0030277	maintenance of gastrointe stinal epithelium	IMP	biological_process
GO:0031982	vesicle	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

Diseases

Associated diseases	References
Endometrial cancer	PMID: 17197898
Endometriosis	PMID: 24939955
Implantation failure	PMID: 16807280
Endometriosis associated infertility	INFBASE21349170
Endometriosis	INFBASE21349170

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21349170	Endometrio sis	rs882605, rs1104760, rs2688513, rs2246901, rs2258447 and rs2291652	Taiwane se	290 (140 patien ts, 150 healthy women)	Female infertility		Show abstract