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  3. ATPAF2 - ATP synthase mitochondrial F1 complex assembly factor 2 Gene

ATPAF2 - ATP synthase mitochondrial F1 complex assembly factor 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ATP12; ATP12p; LP3663; MC5DN1

Gene ID: 91647 | Gene type: protein coding

About ATPAF2

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:18,015,059-18,039,168 (from NCBI)

This gene has 13 transcripts (splice variants), 207 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 3.4), bone marrow (RPKM 2.9) and 25 other tissues.

Summary

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP Synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during Enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

ATPAF2 Products(1)

mRNA Protein Name
NM_145691.4 NP_663729.1 ATP synthase mitochondrial F1 complex assembly factor 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
11410595 GOA
Biological Process GO Annotation Evidence Reference Source
involved in mitochondrial proton-transporting ATP synthase complex assembly IGI
IGI: Inferred from genetic interaction
11410595 GOA
Cellular Component GO Annotation Evidence Reference Source
is active in mitochondrial inner membrane IGI
IGI: Inferred from genetic interaction
11410595 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATPAF2 Protein Structure

ATP12

ATP12: ATP12 chaperone protein (47 - 169)

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

ATP synthase mitochondrial F1 complex assembly factor 2

ATP12 homolog

Related Diseases

Diseases Alias
Mitochondrial Complex V Deficiency, Nuclear Type 1

MC5DN1

MC1DN5

Mitochondrial Complex V Deficiency, Atpaf2 Type

Mitochondrial Complex I Deficiency, Nuclear Type 5

Atpase Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 5

Nuclear Type Mitochondrial Complex I Deficiency 5

Mitochondrial Complex V Deficiency, Nuclear Type 1

Atpaf2 Deficiency

Atp Synthase Deficiency

Complex 5 Mitochondrial Respiratory Chain Deficiency

Complex V Mitochondrial Respiratory Chain Deficiency

Mitochondrial Complex V Deficiency Type 1

Mitochondrial Complex V Deficiency, Nuclear, Type 1

Complex V Deficiency
Isolated Atp Synthase Deficiency

Isolated Mitochondrial Respiratory Chain Complex V Deficiency
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p
Neuropathy, Ataxia, And Retinitis Pigmentosa

Narp Syndrome

NARP

Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa

Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome

Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome

Neuropathy, Ataxia And Retinitis Pigmentosa

Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Neuropathy, Ataxia, And Retinitis Pigmentos

Neuropathy Ataxia And Retinitis Pigmentosa

Neuropathy, Ataxia, Retinitis Pigmentosa

Neuropathy Ataxia And Retinis Pigmentosa

Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome
3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria
Intermittent Squint

Intermittent Heterotropia

Intermittent Tropia
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
Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy
Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01244 ATPAF2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ATPAF2 RGD RGD:1305161
Felis catus ATPAF2 VGNC VGNC:60031
Bos taurus ATPAF2 VGNC VGNC:26333
Canis familiaris ATPAF2 VGNC VGNC:38291
Macaca mulatta ATPAF2 VGNC VGNC:70098
Mus musculus ATPAF2 MGD MGI:2180561