Seroatlas · Human Serome Atlas

GATAD2B

Transcriptional repressor p66-beta

Also known as: P66B_HUMAN, P66beta

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

Protein identityUniProt · HPA

UniProt accession
Q8WXI9
Gene
GATAD2B
Ensembl
ENSG00000143614
Chromosome
1
Canonical length
593 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm
Quaternary structure
Homooligomer

OverviewNCBI Gene

This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]

Canonical amino-acid sequenceUniProt

593 residues, UniProt reviewed canonical sequence.

>Q8WXI9|GATAD2B
     1  MDRMTEDALR LNLLKRSLDP ADERDDVLAK RLKMEGHEAM ERLKMLALLK RKDLANLEVP
    61  HELPTKQDGS GVKGYEEKLN GNLRPHGDNR TAGRPGKENI NDEPVDMSAR RSEPERGRLT
   121  PSPDIIVLSD NEASSPRSSS RMEERLKAAN LEMFKGKGIE ERQQLIKQLR DELRLEEARL
   181  VLLKKLRQSQ LQKENVVQKT PVVQNAASIV QPSPAHVGQQ GLSKLPSRPG AQGVEPQNLR
   241  TLQGHSVIRS ATNTTLPHML MSQRVIAPNP AQLQGQRGPP KPGLVRTTTP NMNPAINYQP
   301  QSSSSVPCQR TTSSAIYMNL ASHIQPGTVN RVSSPLPSPS AMTDAANSQA AAKLALRKQL
   361  EKTLLEIPPP KPPAPLLHFL PSAANSEFIY MVGLEEVVQS VIDSQGKSCA SLLRVEPFVC
   421  AQCRTDFTPH WKQEKNGKIL CEQCMTSNQK KALKAEHTNR LKNAFVKALQ QEQEIEQRLQ
   481  QQAALSPTTA PAVSSVSKQE TIMRHHTLRQ APQPQSSLQR GIPTSARSML SNFAQAPQLS
   541  VPGGLLGMPG VNIAYLNTGI GGHKGPSLAD RQREYLLDMI PPRSISQSIS GQK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GATAD2B 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)
0.62
Highest tissue expression
18 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 18 nTPM
  • skeletal muscle: 16 nTPM
  • skin: 12 nTPM
  • lung: 12 nTPM
  • blood vessel: 11 nTPM
  • ovary: 11 nTPM

Single-cell type

  • neutrophils: 338 nCPM
  • choroid plexus epithelial cells: 288 nCPM
  • renal connecting tubule cells: 244 nCPM
  • distal convoluted tubule cells: 224 nCPM
  • proximal tubule cells: 213 nCPM
  • renal collecting duct intercalated cells: 211 nCPM

Immune cell

  • basophil: 4.9 nTPM
  • neutrophil: 3.5 nTPM
  • plasmacytoid DC: 1.7 nTPM
  • NK-cell: 1.2 nTPM
  • memory CD8 T-cell: 0.8 nTPM
  • naive B-cell: 0.7 nTPM

Brain region

  • cerebellum: 96 nTPM
  • white matter: 90 nTPM
  • cerebral cortex: 76 nTPM
  • medulla oblongata: 74 nTPM
  • basal ganglia: 74 nTPM
  • hypothalamus: 73 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GATAD2B.

Disease | AllUniProt

Conditions GATAD2B is implicated in, by any mechanism.

Disease | GeneticClinVar

112 pathogenic / likely-pathogenic of 675 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)
0.1
gnomAD pLI
1
gnomAD missense Z
3.16
DepMap mean gene effect
-0.18
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% 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 GATAD2B 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 GATAD2B as an antibody target. Whether an autoantibody or antibody against GATAD2B could matter depends on whether native GATAD2B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GATAD2B 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 GATAD2B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GATAD2B. 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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