• Gene id: 7417

Gene Summary

• Gene Symbol: VDAC2   Gene   UCSC   Ensembl
• Aliases: POR
• Gene name: voltage dependent anion channel 2
• Alternate names: voltage-dependent anion-selective channel protein 2, epididymis secretory sperm binding protein, outer mitochondrial membrane protein porin 2,
• Gene location: 10q22.2 (75210153: 75231447)     Exons: 13     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the voltage-dependent anion channel pore-forming family of proteins that are considered the main pathway for metabolite diffusion across the mitochondrial outer membrane. The encoded protein is also thought to be involved in
• OMIM: 193245

SNPs

rs7896741

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

NC_000010.11   g.75219460G>C
NC_000010.10   g.76979218G>C|SEQ=[G/C]|GENE=VDAC2

rs2804535

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

NC_000010.11   g.75212086C>A
NC_000010.11   g.75212086C>G
NC_000010.11   g.75212086C>T
NC_000010.10   g.76971844C>A
NC_000010.10   g.76971844C>G
NC_000010.10   g.76971844C>T|SEQ=[C/A/G/T]|GENE=VDAC2

rs11001334

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

NC_000010.11   g.75229537C>T
NC_000010.10   g.76989295C>T|SEQ=[C/T]|GENE=VDAC2

Protein Summary

• Protein general information: P45880  
  • Name: Voltage dependent anion selective channel protein 2 (VDAC 2) (hVDAC2) (Outer mitochondrial membrane protein porin 2)
  • Length: 294  
  • Mass: 31567
  • Tissue specificity: Expressed in all tissues examined.
• Sequence:

  MATHGQTCARPMCIPPSYADLGKAARDIFNKGFGFGLVKLDVKTKSCSGVEFSTSGSSNTDTGKVTGTLETKYKW
  CEYGLTFTEKWNTDNTLGTEIAIEDQICQGLKLTFDTTFSPNTGKKSGKIKSSYKRECINLGCDVDFDFAGPAIH
  GSAVFGYEGWLAGYQMTFDSAKSKLTRNNFAVGYRTGDFQLHTNVNDGTEFGGSIYQKVCEDLDTSVNLAWTSGT
  NCTRFGIAAKYQLDPTASISAKVNNSSLIGVGYTQTLRPGVKLTLSALVDGKSINAGGHKVGLALELEA

• Structural information:
  • Interpro: IPR023614  IPR001925  IPR027246  IPR030277  
  • Prosite: PS00558
  • STRING: ENSP00000361635
• Other Databases: GeneCards:  VDAC2  Malacards:  VDAC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006820	anion transport	IDA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0008308	voltage-gated anion channel activity	IDA	molecular function
GO:0015288	porin activity	IEA	molecular function
GO:0032272	negative regulation of protein polymerization	IEA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0043209	myelin sheath	IEA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0046930	pore complex	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:1903959	regulation of anion transmembrane transport	IEA	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006820	anion transport	IEA	biological process
GO:0006820	anion transport	IDA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0008308	voltage-gated anion channel activity	IEA	molecular function
GO:0008308	voltage-gated anion channel activity	IDA	molecular function
GO:0015288	porin activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0032272	negative regulation of protein polymerization	IEA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0043209	myelin sheath	IEA	cellular component
GO:0044070	regulation of anion transport	IEA	biological process
GO:0045121	membrane raft	IDA	cellular component
GO:0046930	pore complex	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:1903959	regulation of anion transmembrane transport	IEA	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006820	anion transport	IDA	biological process
GO:0008308	voltage-gated anion channel activity	IDA	molecular function
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0008308	voltage-gated anion channel activity	IBA	molecular function
GO:0005741	mitochondrial outer membrane	IBA	cellular component
GO:0008308	voltage-gated anion channel activity	IDA	molecular function
GO:0006820	anion transport	IDA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0008308	voltage-gated anion channel activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0015288	porin activity	IEA	molecular function
GO:0046930	pore complex	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0032272	negative regulation of protein polymerization	IEA	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0015698	inorganic anion transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process
GO:0007339	binding of sperm to zona pellucida	IMP	biological process
GO:0001669	acrosomal vesicle	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa05166	Human T-cell leukemia virus 1 infection
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04621	NOD-like receptor signaling pathway
hsa04217	Necroptosis
hsa04218	Cellular senescence
hsa04979	Cholesterol metabolism
hsa04216	Ferroptosis
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
hsa05012	Parkinson disease
hsa05016	Huntington disease
hsa05166	Human T-cell leukemia virus 1 infection

Diseases

Associated diseases	References
Alzheimer's disease	GAD: 16385451
Sperm motility	MIK: 19593987
Asthenozoospermia	MIK: 25825237
Asthenozoospermia	MIK: 25825237
Asthenozoospermia	MIK: 20809416
Sperm motility defects	MIK: 19593987
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25825237	Asthenozoospermia				Male infertility	Tubulin beta 2B; glutathione S-transferase Mu 3; keratin type II cytoskeletal 1; outer dense fiber protein 2; voltage-dependent anion-selective channel protein 2; A-kinase anchor protein 4; cytochrome c oxidase subunit 6B; sperm protein associated with t
19593987	Sperm motility				Male infertility	VDAC1 VDAC2 and VDAC3
20809416	Idiopathic asthenozoospermia			76 (36 donors, 40 patients using a discontinuous Percoll gradient centrifugation)	Male infertility	VDAC2
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)