Seroatlas · Human Serome Atlas

ARL2BP

ADP-ribosylation factor-like protein 2-binding protein

Also known as: AR2BP_HUMAN, BART, BART1, RP66

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

Protein identityUniProt · HPA

UniProt accession: Q9Y2Y0
Gene: ARL2BP
Ensembl: ENSG00000102931
Chromosome: 16
Canonical length: 163 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

163 residues, UniProt reviewed canonical sequence.

>Q9Y2Y0|ARL2BP
     1  MDALEGESFA LSFSSASDAE FDAVVGYLED IIMDDEFQLL QRNFMDKYYL EFEDTEENKL
    61  IYTPIFNEYI SLVEKYIEEQ LLQRIPEFNM AAFTTTLQHH KDEVAGDIFD MLLTFTDFLA
   121  FKEMFLDYRA EKEGRGLDLS SGLVVTSLCK SSSLPASQNN LRH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARL2BP 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: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 55 nTPM

Expression across tissuesHPA

Tissue

smooth muscle: 55 nTPM
ovary: 55 nTPM
testis: 53 nTPM
heart muscle: 51 nTPM
cerebral cortex: 49 nTPM
esophagus: 47 nTPM

Single-cell type

late spermatids: 811 nCPM
early spermatids: 318 nCPM
esophageal apical cells: 216 nCPM
late primary spermatocytes: 163 nCPM
esophageal suprabasal cells: 128 nCPM
alveolar cells type 1: 123 nCPM

Immune cell

NK-cell: 64 nTPM
myeloid DC: 57 nTPM
total PBMC: 55 nTPM
non-classical monocyte: 52 nTPM
naive CD4 T-cell: 50 nTPM
classical monocyte: 46 nTPM

Brain region

hypothalamus: 20 nTPM
midbrain: 20 nTPM
choroid plexus: 20 nTPM
white matter: 19 nTPM
thalamus: 19 nTPM
basal ganglia: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARL2BP.

Disease | AllUniProt

Conditions ARL2BP is implicated in, by any mechanism.

Retinitis pigmentosa 82 with or without situs inversus (RP82) MIM:615434

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 117 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinitis pigmentosa with or without situs inversus
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
ARL2BP-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): 1.35
gnomAD pLI: 0
gnomAD missense Z: 0.83
DepMap mean gene effect: -0.07
DepMap dependency class: selective

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

BART domain
BART domain superfamily
The ARF-like 2 binding protein BART
ADP-ribosylation factor-like protein 2-binding protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ARL2BP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ARL2BP as an antibody target. Whether an autoantibody or antibody against ARL2BP could matter depends on whether native ARL2BP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ARL2BP 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 ARL2BP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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