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GATAD2B GATA zinc finger domain containing 2B [ Homo sapiens (human) ]

Gene ID: 57459, updated on 9-Feb-2020

Summary

Official Symbol
GATAD2Bprovided by HGNC
Official Full Name
GATA zinc finger domain containing 2Bprovided by HGNC
Primary source
HGNC:HGNC:30778
See related
Ensembl:ENSG00000143614 MIM:614998
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p68; MRD18; P66beta
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 8.8), spleen (RPKM 5.8) and 25 other tissues See more
Orthologs

Genomic context

See GATAD2B in Genome Data Viewer
Location:
1q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (153804725..153923953, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153777201..153895451, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 27 member 3 Neighboring gene immunoglobulin superfamily DCC subclass member 3 pseudogene Neighboring gene adipose differentiation-related protein pseudogene Neighboring gene uncharacterized LOC101928059 Neighboring gene DENN domain containing 4B Neighboring gene CREB regulated transcription coactivator 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal dominant 18
MedGen: C3554448 OMIM: 615074 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2017-12-27)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2017-12-27)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37346, KIAA1150, MGC138257, MGC138285

General protein information

Preferred Names
transcriptional repressor p66-beta
Names
GATA zinc finger domain-containing protein 2B
transcription repressor p66 beta component of the MeCP1 complex

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050988.1 RefSeqGene

    Range
    5004..123251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020699.4NP_065750.1  transcriptional repressor p66-beta

    See identical proteins and their annotated locations for NP_065750.1

    Status: REVIEWED

    Source sequence(s)
    AF411836, AL513523, BQ446626, DA161156
    Consensus CDS
    CCDS1054.1
    UniProtKB/Swiss-Prot
    Q8WXI9
    Related
    ENSP00000357644.4, ENST00000368655.5
    Conserved Domains (2) summary
    pfam00320
    Location:420454
    GATA; GATA zinc finger
    pfam16563
    Location:159194
    P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    153804725..153923953 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448621.1XP_024304389.1  transcriptional repressor p66-beta isoform X1

    Conserved Domains (2) summary
    pfam00320
    Location:420454
    GATA; GATA zinc finger
    pfam16563
    Location:159194
    P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2
  2. XM_005245364.4XP_005245421.1  transcriptional repressor p66-beta isoform X1

    See identical proteins and their annotated locations for XP_005245421.1

    UniProtKB/Swiss-Prot
    Q8WXI9
    Related
    ENSP00000489184.1, ENST00000634544.1
    Conserved Domains (2) summary
    pfam00320
    Location:420454
    GATA; GATA zinc finger
    pfam16563
    Location:159194
    P66_CC; Coiled-coil and interaction region of P66A and P66B with MBD2

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315905.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    121426..145051 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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