Seroatlas · Human Serome Atlas

AFG2B

ATPase family gene 2 protein homolog B

Also known as: AFG2B_HUMAN, FLJ12286, MGC5347, SPATA5L1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BVQ7
Gene: AFG2B
Ensembl: ENSG00000171763
Chromosome: 15
Canonical length: 753 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli

OverviewNCBI Gene

Enables identical protein binding activity and preribosome binding activity. Involved in ribosomal large subunit biogenesis. Located in cytoplasm and spindle. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

753 residues, UniProt reviewed canonical sequence.

>Q9BVQ7|AFG2B
     1  MAPDSDPFPE GPLLKLLPLD ARDRGTQRCR LGPAALHALG ARLGSAVKIS LPDGGSCLCT
    61  AWPRRDGADG FVQLDPLCAS PGAAVGASRS RRSLSLNRLL LVPCPPLRRV AVWPVLRERA
   121  GAPGARNTAA VLEAAQELLR NRPISLGHVV VAPPGAPGLV AALHIVGGTP SPDPAGLVTP
   181  RTRVSLGGEP PSEAQPQPEV PLGGLSEAAD SLRELLRLPL RYPRALTALG LAVPRGVLLA
   241  GPPGVGKTQL VRAVAREAGA ELLAVSAPAL QGSRPGETEE NVRRVFQRAR ELASRGPSLL
   301  FLDEMDALCP QRGSRAPESR VVAQVLTLLD GASGDREVVV VGATNRPDAL DPALRRPGRF
   361  DREVVIGTPT LKQRKEILQV ITSKMPISSH VDLGLLAEMT VGYVGADLTA LCREAAMHAL
   421  LHSEKNQDNP VIDEIDFLEA FKNIQPSSFR SVIGLMDIKP VDWEEIGGLE DVKLKLKQSI
   481  EWPLKFPWEF VRMGLTQPKG VLLYGPPGCA KTTLVRALAT SCHCSFVSVS GADLFSPFVG
   541  DSEKVLSQIF RQARASTPAI LFLDEIDSIL GARSASKTGC DVQERVLSVL LNELDGVGLK
   601  TIERRGSKSS QQEFQEVFNR SVMIIAATNR PDVLDTALLR PGRLDKIIYI PPPDHKGRLS
   661  ILKVCTKTMP IGPDVSLENL AAETCFFSGA DLRNLCTEAA LLALQENGLD ATTVKQEHFL
   721  KSLKTVKPSL SCKDLALYEN LFKKEGFSNV EGI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AFG2B 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): 0.3
Highest tissue expression: 9.7 nTPM

Expression across tissuesHPA

Tissue

esophagus: 9.7 nTPM
skeletal muscle: 8.6 nTPM
liver: 7.1 nTPM
skin: 7 nTPM
cerebellum: 6.3 nTPM
bone marrow: 6 nTPM

Single-cell type

esophageal apical cells: 86 nCPM
neutrophils: 65 nCPM
early spermatids: 49 nCPM
monocytes: 33 nCPM
late primary spermatocytes: 29 nCPM
cone photoreceptor cells: 27 nCPM

Immune cell

non-classical monocyte: 1.9 nTPM
memory CD8 T-cell: 1.5 nTPM
eosinophil: 1.2 nTPM
gdT-cell: 1.1 nTPM
neutrophil: 1.1 nTPM
NK-cell: 1.1 nTPM

Brain region

white matter: 4.6 nTPM
cerebellum: 4.5 nTPM
thalamus: 4 nTPM
basal ganglia: 3.6 nTPM
spinal cord: 3.6 nTPM
cerebral cortex: 3.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AFG2B.

Disease | AllUniProt

Conditions AFG2B is implicated in, by any mechanism.

Deafness, autosomal recessive, 119 (DFNB119) MIM:619615
Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) MIM:619616

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 175 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with hearing loss and spasticity
SPATA5L1-associated disorder
See cases
Hearing loss, autosomal recessive 119
AFG2B-related 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): 1.07
gnomAD pLI: 0
DepMap mean gene effect: -1.06
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AFG2B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

AFG2A

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AFG2B as an antibody target. Whether an autoantibody or antibody against AFG2B could matter depends on whether native AFG2B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AFG2B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AFG2B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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