Seroatlas · Human Serome Atlas

C2orf49

Ashwin

Also known as: ASHWN_HUMAN, asw, MGC5509

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

Protein identityUniProt · HPA

UniProt accession: Q9BVC5
Gene: C2orf49
Ensembl: ENSG00000135974
Chromosome: 2
Canonical length: 232 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

Predicted to be involved in tRNA splicing, via endonucleolytic cleavage and ligation. Located in nucleoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

232 residues, UniProt reviewed canonical sequence.

>Q9BVC5|C2orf49
     1  MAGDVGGRSC TDSELLLHPE LLSQEFLLLT LEQKNIAVET DVRVNKDSLT DLYVQHAIPL
    61  PQRDLPKNRW GKMMEKKREQ HEIKNETKRS STVDGLRKRP LIVFDGSSTS TSIKVKKTEN
   121  GDNDRLKPPP QASFTSNAFR KLSNSSSSVS PLILSSNLPV NNKTEHNNND AKQNHDLTHR
   181  KSPSGPVKSP PLSPVGTTPV KLKRAAPKEE AEAMNNLKPP QAKRKIQHVT WP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C2orf49 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): 0.64
Highest tissue expression: 23 nTPM

Expression across tissuesHPA

Tissue

retina: 23 nTPM
tongue: 20 nTPM
ovary: 19 nTPM
skeletal muscle: 19 nTPM
bone marrow: 18 nTPM
thymus: 15 nTPM

Single-cell type

esophageal apical cells: 82 nCPM
late primary spermatocytes: 75 nCPM
parietal cells: 58 nCPM
late spermatids: 56 nCPM
syncytiotrophoblasts: 51 nCPM
endometrial ciliated cells: 45 nCPM

Immune cell

plasmacytoid DC: 19 nTPM
neutrophil: 18 nTPM
naive B-cell: 18 nTPM
basophil: 15 nTPM
memory B-cell: 15 nTPM
classical monocyte: 13 nTPM

Brain region

white matter: 28 nTPM
cerebellum: 24 nTPM
basal ganglia: 24 nTPM
midbrain: 24 nTPM
medulla oblongata: 23 nTPM
cerebral cortex: 23 nTPM

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): 1.06
gnomAD pLI: 0.02
gnomAD missense Z: -0.51
DepMap mean gene effect: -0.14
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Ashwin
Developmental protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of C2orf49 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 C2orf49 as an antibody target. Whether an autoantibody or antibody against C2orf49 could matter depends on whether native C2orf49 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

C2orf49 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 C2orf49 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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