AFG2A

Protein identityUniProt · HPA

UniProt accession

Q8NB90

Gene

AFG2A

Ensembl

ENSG00000145375

Chromosome

4

Canonical length

893 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

893 residues, UniProt reviewed canonical sequence.

>Q8NB90|AFG2A
     1  MSSKKNRKRL NQSAENGSSL PSAASSCAEA RAPSAGSDFA ATSGTLTVTN LLEKVDDKIP
    61  KTFQNSLIHL GLNTMKSANI CIGRPVLLTS LNGKQEVYTA WPMAGFPGGK VGLSEMAQKN
   121  VGVRPGDAIQ VQPLVGAVLQ AEEMDVALSD KDMEINEEEL TGCILRKLDG KIVLPGNFLY
   181  CTFYGRPYKL QVLRVKGADG MILGGPQSDS DTDAQRMAFE QSSMETSSLE LSLQLSQLDL
   241  EDTQIPTSRS TPYKPIDDRI TNKASDVLLD VTQSPGDGSG LMLEEVTGLK CNFESAREGN
   301  EQLTEEERLL KFSIGAKCNT DTFYFISSTT RVNFTEIDKN SKEQDNQFKV TYDMIGGLSS
   361  QLKAIREIIE LPLKQPELFK SYGIPAPRGV LLYGPPGTGK TMIARAVANE VGAYVSVING
   421  PEIISKFYGE TEAKLRQIFA EATLRHPSII FIDELDALCP KREGAQNEVE KRVVASLLTL
   481  MDGIGSEVSE GQVLVLGATN RPHALDAALR RPGRFDKEIE IGVPNAQDRL DILQKLLRRV
   541  PHLLTEAELL QLANSAHGYV GADLKVLCNE AGLCALRRIL KKQPNLPDVK VAGLVKITLK
   601  DFLQAMNDIR PSAMREIAID VPNVSWSDIG GLESIKLKLE QAVEWPLKHP ESFIRMGIQP
   661  PKGVLLYGPP GCSKTMIAKA LANESGLNFL AIKGPELMNK YVGESERAVR ETFRKARAVA
   721  PSIIFFDELD ALAVERGSSL GAGNVADRVL AQLLTEMDGI EQLKDVTILA ATNRPDRIDK
   781  ALMRPGRIDR IIYVPLPDAA TRREIFKLQF HSMPVSNEVD LDELILQTDA YSGAEIVAVC
   841  REAALLALEE DIQANLIMKR HFTQALSTVT PRIPESLRRF YEDYQEKSGL HTL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AFG2A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

3.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AFG2A.

Disease | AllUniProt

Conditions AFG2A is implicated in, by any mechanism.

• Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) MIM:616577

Disease | GeneticClinVar

100 pathogenic / likely-pathogenic of 911 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
• Neurodevelopmental disorder
• Inborn genetic diseases
• AFG2A-related disorder
• Syndromic complex neurodevelopmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.08

gnomAD pLI

0

DepMap mean gene effect

-0.77

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• cell differentiation
• ribosomal large subunit biogenesis
• spermatogenesis

Molecular functions

• ATP binding
• ATP hydrolysis activity
• preribosome binding

Cellular components

• cytoplasm
• cytosol
• spindle

Protein domainsUniProt · Pfam · InterPro

• AAA+ ATPase domain
• ATPase, AAA-type, core
• ATPase, AAA-type, conserved site
• Aspartate decarboxylase-like domain superfamily
• P-loop containing nucleoside triphosphate hydrolase
• AAA ATPase, AAA+ lid domain
• AAA ATPase domain-containing protein
• ATPase family associated with various cellular activities (AAA)
• AAA+ lid domain

KeywordsUniProt

• ATP-binding
• Chaperone
• Cytoplasm
• Cytoskeleton
• Deafness
• Developmental protein
• Differentiation
• Epilepsy
• Hydrolase
• Intellectual disability
• Isopeptide bond
• Mitochondrion
• Nucleotide-binding
• Phosphoprotein
• Repeat
• Ribosome biogenesis
• Spermatogenesis
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of AFG2A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• AFG2B
• CINP