Male Infertility Database

Search Result

Gene id

7419

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

VDAC3 Gene UCSC Ensembl

Aliases

HD-VDAC3, VDAC-3

Gene name

voltage dependent anion channel 3

Alternate names

voltage-dependent anion-selective channel protein 3, outer mitochondrial membrane protein porin 3,

Gene location

8p11.21 (42391623: 42405936) Exons: 11 NC_000008.11

Gene summary(Entrez)

This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are kno

OMIM

610029

SNPs

rs16891278

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

NC_000008.11   g.42401679A>G
NC_000008.11   g.42401679A>T
NC_000008.10   g.42259197A>G
NC_000008.10   g.42259197A>T|SEQ=[A/G/T]|GENE=VDAC3

rs7004637

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

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs6773

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

NC_000008.11   g.42405639T>C
NC_000008.10   g.42263157T>C
NM_005662.7   c.*177T>C
NM_005662.6   c.*177T>C
NM_001135694.2   c.*177T>C
XM_006716394.1   c.*177T>C|SEQ=[T/C]|GENE=VDAC3

Protein Summary

Gene ontology

Expand All | Collapse All

GO accession	Term name	Evidence code	Go category

KEGG pathways

Expand All | Collapse All

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04216	Ferroptosis
hsa04217	Necroptosis
hsa04218	Cellular senescence
hsa04621	NOD-like receptor signaling pathway
hsa04979	Cholesterol metabolism
hsa05203	Viral carcinogenesis
hsa05012	Parkinson disease
hsa05016	Huntington disease
hsa05166	Human T-cell leukemia virus 1 infection
hsa05161	Hepatitis B
hsa05166	Human T-cell leukemia virus 1 infection
hsa04022	cGMP-PKG signaling pathway
hsa05203	Viral carcinogenesis
hsa04020	Calcium signaling pathway
hsa04218	Cellular senescence
hsa05012	Parkinson disease
hsa05016	Huntington disease
hsa05161	Hepatitis B
hsa04217	Necroptosis
hsa04621	NOD-like receptor signaling pathway
hsa04216	Ferroptosis
hsa04979	Cholesterol metabolism

Diseases

Expand All | Collapse All

Associated diseases	References
Immotile sperm and infertility	MIK: 11507092
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

Expand All | Collapse All

PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
11507092	Immotile s perm and i nfertility		Male infertility		Show abstract
17327269	Teratozoos permia	19 (6 controls , 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract
21674046	Associated with sper matogenesi s and epig enetic reg ulation	18	Male infertility	GSE26881	Show abstract
31037746	Spermatoge nic defect s	16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

Expand All | Collapse All

KEGG pathways

Expand All | Collapse All

Expand All | Collapse All

Diseases

Expand All | Collapse All

Expand All | Collapse All

PubMed references

Expand All | Collapse All

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

Expand All | Collapse All

KEGG pathways Expand All | Collapse All

Expand All | Collapse All

Diseases Expand All | Collapse All

Expand All | Collapse All

PubMed references

Expand All | Collapse All

KEGG pathways

Expand All | Collapse All

Diseases

Expand All | Collapse All