Seroatlas · Human Serome Atlas

SH2D1A

SH2 domain-containing protein 1A

Also known as: DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SH21A_HUMAN, XLP, XLPD

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

Protein identityUniProt · HPA

UniProt accession
O60880
Gene
SH2D1A
Ensembl
ENSG00000183918
Chromosome
X
Canonical length
128 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

128 residues, UniProt reviewed canonical sequence.

>O60880|SH2D1A
     1  MDAVAVYHGK ISRETGEKLL LATGLDGSYL LRDSESVPGV YCLCVLYHGY IYTYRVSQTE
    61  TGSWSAETAP GVHKRYFRKI KNLISAFQKP DQGIVIPLQY PVEKKSSARS TQGTTGIRED
   121  PDVCLKAP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SH2D1A 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)
0.4
Highest tissue expression
201 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 201 nTPM
  • lymph node: 29 nTPM
  • tonsil: 13 nTPM
  • spleen: 11 nTPM
  • appendix: 8 nTPM
  • urinary bladder: 3.7 nTPM

Single-cell type

  • t-cells: 13 nCPM
  • nk-cells: 12 nCPM
  • thymocytes: 3.4 nCPM
  • platelets: 2.8 nCPM
  • cholangiocytes: 2 nCPM
  • innate lymphoid cells: 0.9 nCPM

Immune cell

  • memory CD8 T-cell: 148 nTPM
  • NK-cell: 129 nTPM
  • MAIT T-cell: 127 nTPM
  • T-reg: 103 nTPM
  • gdT-cell: 97 nTPM
  • naive CD8 T-cell: 87 nTPM

Brain region

  • medulla oblongata: 0.2 nTPM
  • white matter: 0.2 nTPM
  • basal ganglia: 0.1 nTPM
  • cerebellum: 0.1 nTPM
  • cerebral cortex: 0.1 nTPM
  • choroid plexus: 0.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SH2D1A.

Disease | AllUniProt

Conditions SH2D1A is implicated in, by any mechanism.

  • Lymphoproliferative syndrome, X-linked, 1 (XLP1) MIM:308240

Disease | GeneticClinVar

46 pathogenic / likely-pathogenic of 189 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.96
gnomAD pLI
0.39
gnomAD missense Z
1.69
DepMap mean gene effect
0.11
DepMap dependency class
none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SH2D1A 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 SH2D1A as an antibody target. Whether an autoantibody or antibody against SH2D1A could matter depends on whether native SH2D1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SH2D1A 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 SH2D1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SH2D1A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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