Seroatlas · Human Serome Atlas

AAR2

Protein AAR2 homolog

Also known as: AAR2_HUMAN, bA234K24.2, C20orf4

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

Protein identityUniProt · HPA

UniProt accession: Q9Y312
Gene: AAR2
Ensembl: ENSG00000131043
Chromosome: 20
Canonical length: 384 aa
Protein class: Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

Canonical amino-acid sequenceUniProt

384 residues, UniProt reviewed canonical sequence.

>Q9Y312|AAR2
     1  MAAVQMDPEL AKRLFFEGAT VVILNMPKGT EFGIDYNSWE VGPKFRGVKM IPPGIHFLHY
    61  SSVDKANPKE VGPRMGFFLS LHQRGLTVLR WSTLREEVDL SPAPESEVEA MRANLQELDQ
   121  FLGPYPYATL KKWISLTNFI SEATVEKLQP ENRQICAFSD VLPVLSMKHT KDRVGQNLPR
   181  CGIECKSYQE GLARLPEMKP RAGTEIRFSE LPTQMFPEGA TPAEITKHSM DLSYALETVL
   241  NKQFPSSPQD VLGELQFAFV CFLLGNVYEA FEHWKRLLNL LCRSEAAMMK HHTLYINLIS
   301  ILYHQLGEIP ADFFVDIVSQ DNFLTSTLQV FFSSACSIAV DATLRKKAEK FQAHLTKKFR
   361  WDFAAEPEDC APVVVELPEG IEMG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AAR2 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 28 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 28 nTPM
choroid plexus: 27 nTPM
smooth muscle: 26 nTPM
colon: 26 nTPM
urinary bladder: 25 nTPM
skin: 25 nTPM

Single-cell type

cytotrophoblasts: 29 nCPM
gastric progenitor cells: 28 nCPM
oocytes: 28 nCPM
decidual stromal cells: 27 nCPM
cholangiocytes: 27 nCPM
cone photoreceptor cells: 27 nCPM

Immune cell

basophil: 61 nTPM
non-classical monocyte: 58 nTPM
NK-cell: 58 nTPM
total PBMC: 57 nTPM
T-reg: 50 nTPM
naive CD4 T-cell: 50 nTPM

Brain region

choroid plexus: 27 nTPM
white matter: 23 nTPM
medulla oblongata: 20 nTPM
cerebellum: 19 nTPM
basal ganglia: 19 nTPM
spinal cord: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AAR2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 66 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

8 conditions

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: 0.86
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 18% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

spliceosomal tri-snRNP complex assembly

Cellular components

Protein domainsUniProt · Pfam · InterPro

A1 cistron-splicing factor, AAR2
AAR2, N-terminal
AAR2, C-terminal domain
AAR2, C-terminal domain superfamily
AAR2, N-terminal domain superfamily
AAR2 C-terminal repeat region
AAR2 N-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AAR2 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 AAR2 as an antibody target. Whether an autoantibody or antibody against AAR2 could matter depends on whether native AAR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AAR2 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 AAR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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