Seroatlas · Human Serome Atlas

CITED2

Cbp/p300-interacting transactivator 2

Also known as: CITE2_HUMAN, MRG1

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

Protein identityUniProt · HPA

UniProt accession
Q99967
Gene
CITED2
Ensembl
ENSG00000164442
Chromosome
6
Canonical length
270 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

Canonical amino-acid sequenceUniProt

270 residues, UniProt reviewed canonical sequence.

>Q99967|CITED2
     1  MADHMMAMNH GRFPDGTNGL HHHPAHRMGM GQFPSPHHHQ QQQPQHAFNA LMGEHIHYGA
    61  GNMNATSGIR HAMGPGTVNG GHPPSALAPA ARFNNSQFMG PPVASQGGSL PASMQLQKLN
   121  NQYFNHHPYP HNHYMPDLHP AAGHQMNGTN QHFRDCNPKH SGGSSTPGGS GGSSTPGGSG
   181  SSSGGGAGSS NSGGGSGSGN MPASVAHVPA AMLPPNVIDT DFIDEEVLMS LVIEMGLDRI
   241  KELPELWLGQ NEFDFMTDFV CKQQPSRVSC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CITED2 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)
0.69
Highest tissue expression
296 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 296 nTPM
  • ovary: 233 nTPM
  • thyroid gland: 214 nTPM
  • liver: 175 nTPM
  • parathyroid gland: 168 nTPM
  • adipose tissue: 167 nTPM

Single-cell type

  • extravillous trophoblasts: 1,006 nCPM
  • breast lactating cells: 874 nCPM
  • hofbauer cells: 641 nCPM
  • migrating cytotrophoblasts: 414 nCPM
  • esophageal apical cells: 353 nCPM
  • epididymal principal cells: 353 nCPM

Immune cell

  • eosinophil: 28 nTPM
  • classical monocyte: 8.3 nTPM
  • non-classical monocyte: 6.7 nTPM
  • memory CD4 T-cell: 5.4 nTPM
  • MAIT T-cell: 5.1 nTPM
  • memory CD8 T-cell: 4.9 nTPM

Brain region

  • cerebellum: 94 nTPM
  • cerebral cortex: 82 nTPM
  • thalamus: 74 nTPM
  • hypothalamus: 50 nTPM
  • pons: 50 nTPM
  • choroid plexus: 41 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CITED2.

Disease | AllUniProt

Conditions CITED2 is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 100 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Atrial septal defect 8

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)
0.63
gnomAD pLI
0.76
gnomAD missense Z
-0.47
DepMap mean gene effect
-0.18
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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CITED2 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 CITED2 as an antibody target. Whether an autoantibody or antibody against CITED2 could matter depends on whether native CITED2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CITED2 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 CITED2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CITED2. 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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