1. Gene
  2. VDAC3 - voltage dependent anion channel 3 Gene

VDAC3 - voltage dependent anion channel 3 Gene

Homo sapiens

Also known as VDAC-3; HD-VDAC3

Gene ID: 7419 | Gene type: protein coding

About VDAC3

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:42,391,761-42,405,937 (from NCBI)

This gene has 12 transcripts (splice variants), 304 orthologues and 2 paralogues. Ubiquitous expression in heart (RPKM 97.4), testis (RPKM 53.6) and 25 other tissues.

Summary

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 known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

VDAC3 Products(12)

mRNA Protein Name
NM_001135694.3 NP_001129166.1 voltage-dependent anion-selective channel protein 3 isoform 2
NM_001413552.1 NP_001400481.1 voltage-dependent anion-selective channel protein 3 isoform 1
NM_001413553.1 NP_001400482.1 voltage-dependent anion-selective channel protein 3 isoform 3
NM_001413554.1 NP_001400483.1 voltage-dependent anion-selective channel protein 3 isoform 4
NM_001413555.1 NP_001400484.1 voltage-dependent anion-selective channel protein 3 isoform 5
NM_001413556.1 NP_001400485.1 voltage-dependent anion-selective channel protein 3 isoform 6
NM_001413557.1 NP_001400486.1 voltage-dependent anion-selective channel protein 3 isoform 7
NM_001413558.1 NP_001400487.1 voltage-dependent anion-selective channel protein 3 isoform 1
NM_001413559.1 NP_001400488.1 voltage-dependent anion-selective channel protein 3 isoform 8
NM_001413560.1 NP_001400489.1 voltage-dependent anion-selective channel protein 3 isoform 9
NM_001413561.1 NP_001400490.1 voltage-dependent anion-selective channel protein 3 isoform 10
NM_005662.7 NP_005653.3 voltage-dependent anion-selective channel protein 3 isoform 1

VDAC3 Protein Structure

Porin_3

Porin_3: Eukaryotic porin (3 - 276)

  • 0
  • 100
  • 200
  • 283 a.a.
Protein Preferred Names Protein Names

voltage-dependent anion-selective channel protein 3

outer mitochondrial membrane protein porin 3

Related Diseases

Diseases Alias
3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus VDAC3 VGNC VGNC:82523
Mus musculus VDAC3 MGD MGI:106922
Macaca mulatta VDAC3 VGNC VGNC:84135
Rattus norvegicus VDAC3 RGD RGD:621577
Canis familiaris VDAC3 VGNC VGNC:48248