Male Infertility Database

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Gene id

8674

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

VAMP4 Gene UCSC Ensembl

Aliases

VAMP-4, VAMP24

Gene name

vesicle associated membrane protein 4

Alternate names

vesicle-associated membrane protein 4, VAMP4/TAF3 fusion,

Gene location

1q24.3 (171742843: 171700159) Exons: 9 NC_000001.11

Gene summary(Entrez)

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene i

OMIM

606909

SNPs

rs11677854

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48664148C>T
NC_000002.11   g.48891287C>T
NG_033050.2   g.139224C>T
NG_033050.1   g.139224C>T|SEQ=[C/T]|GENE=GTF2A1L
STON1-GTF2A1L   286749

rs7371084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs68073206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs12470652

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694299T>C
NC_000002.11   g.48921438T>C
NG_033050.2   g.169375T>C
NG_033050.1   g.169375T>C
NG_008193.2   g.66443A>G
NG_008193.1   g.66443A>G
NM_000233.4   c.872A>G
NM_000233.3   c.872A>G
XM_005264309.3   c.-69A>G
XM_017004089.1   c.617A>G
XM_017004090

rs2293275

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C


rs4597581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A

Protein Summary

Protein general information

O75379

Name: Vesicle associated membrane protein 4 (VAMP 4)

Length: 141 Mass: 16397

Sequence

MPPKFKRHLNDDDVTGSVKSERRNLLEDDSDEEEDFFLRGPSGPRFGPRNDKIKHVQNQVDEVIDVMQENITKVI
ERGERLDELQDKSESLSDNATAFSNRSKQLRRQMWWRGCKIKAIMALVAAILLLVIIILIVMKYRT

Structural information

Protein Domains	(52..11-) homology (/note="v-SNARE-coiled-coil) (/evidence="ECO:0000255\|PROSITE-ProRule:PRU00290"-)
Interpro:	IPR001388 IPR016444 IPR042855 IPR042887
Prosite:	PS00417 PS50892
DIP:	44226
MINT:
STRING:	ENSP00000236192

Other Databases

GeneCards: VAMP4 Malacards: VAMP4

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0031201	SNARE complex	IBA	cellular component
GO:0090161	Golgi ribbon formation	IBA	biological process
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0035493	SNARE complex assembly	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transpor t	IEA	biological process
GO:0090161	Golgi ribbon formation	IEA	biological process
GO:0016021	integral component of mem brane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of mem brane	IEA	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005764	lysosome	TAS	cellular component
GO:0005768	endosome	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: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:0030133	transport vesicle	TAS	cellular component
GO:0030665	clathrin-coated vesicle m embrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle m embrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle m embrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle m embrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle m embrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle m embrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle m embrane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030285	integral component of syn aptic vesicle membrane	IEA	cellular component
GO:0016189	synaptic vesicle to endos ome fusion	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:1900242	regulation of synaptic ve sicle endocytosis	IEA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0035493	SNARE complex assembly	IDA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0090161	Golgi ribbon formation	IMP	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated tr ansport	IMP	NOT\|biological process
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0043001	Golgi to plasma membrane protein transport	IMP	NOT\|biological process

KEGG pathways

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Pathway id	Pathway name
hsa04130	SNARE interactions in vesicular transport

Diseases

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Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

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PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
17327269	Teratozoos permia	13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract
17327269	Teratozoos permia	19 (6 controls , 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract
17327269	Teratozoos permia	19 (6 controls , 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract
21674046	Aberrant C pGs in Low Motility Sperm	18	Male infertility	GSE26881	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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