GATAD2B
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GATAD2B (HGNC:30778) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
GATA zinc finger domain containing 2B
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
P66beta
%HI
10.42(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.24(Read more about gnomAD LOEUF score)
Cytoband
1q21.3
Genomic Coordinates
GRCh37/hg19: chr1:153777201-153895448 NCBI Ensembl UCSC
GRCh38/hg38: chr1:153804725-153922972 NCBI Ensembl UCSC
MANE Select Transcript
NM_020699.4 ENST00000368655.5 (Read more about MANE Select)
Function
Transcriptional repressor (PubMed:12183469, PubMed:16415179). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). Enhances MBD2-mediated repression (PubMed:12183469, PubMed:16415179). Efficient repression requires the presence of GATAD2A (PubMed:16415179). Targets MBD3 to discrete loci in the nucleus (PubMed:11756549). May play a role in synapse development (PubMed:23644463). {ECO:0000269|PubMed:1175654... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28095
ClinGen Curation ID:
CCID:007193
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
12/27/2017

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Monarch
HI Evidence:
  • PUBMED: 23644463
    Three patients (Patient 1, 2 and 4) with a heterozygous mutation resulting in the loss-of-function of GATAD2B. The overlapping abnormal phenotype were severe intellectual disability, limited speech, childhood hypotonia, strabismus, long fingers, thin hair and recognizable facial features, which include a typical, tubular shaped nose with broad tip, deeply set eyes, broad forehead, short philtrum, broad mouth, grimacing facial expression. Patient 1 had a de novo nonsense mutation (c.1408C>T or p.(Gln470*)) located in the conserved region 2 (CR2) domain of the GATAD2B gene. Patient 2 had a de novo frameshift mutation (c.584dup or p.(Asn195Lysfs*30)) located at the conserved region 1 (CR1). Patient 4 had a 2-bp deletion near the CR1 domain resulting in a frameshift mutation (c.565_566del or p.(Gln190Alafs*34)). The mother of patient 4 is a healthy mosaic carrier (<10% in peripheral blood) of the same mutation. Studies in Drosophila model demonstrated that reduced levels of GATAD2B orthologue (simj-RNAi flies) affect learning and synapse development.
  • PUBMED: 28077840
    Two patients with a de novo heterozygous mutation resulting in the loss-of-function of GATAD2B gene. The overlapping abnormal phenotype include intellectual disability, language delay, palpebral fissue, ocular hypertelorism, and a flat, low nasal bridge. Individual 1 had a 5-bp insertion upstream from CR1 domain resulting in a frameshift and premature termination (c.80_81insGATGT or p.(Leu28Metfs*18)). Individual 2 had 4-bp deletion within the CR1 domain resulting in a frameshift and premature termination (c.552_555delGAAA or p.(Lys184Asnfs*2)).
  • PUBMED: 27848944
    One patient (00080965) with a de novo heterozygous mutation resulting in the loss-of-function of GATAD2B gene. The clinical features include global developmental delay, delayed speech and language development, motor delay, morphological abnormality of the central nervous system, congenital encephalopathy, strabismus, hyperreflexia, muscular hypotonia of trunk, seizures and others. The mutation resulting in a frameshift and premature termination (c.815_816insTCCA or p.(Gln272Hisfs*11)).
HI Evidence Comments:
Other reports with a de novo mutation resulting in the loss-of-function of GATAD2B gene include PMID: 25356899 (Patient 1907.666) and 27159321 (Patient LD_0366). In addition, large de novo heterozygous deletions at 1q21.3, including GATAD2B gene, had been reported with variable breakpoints and sizes (145-1,095kb) in the following papers PMID: 23644463 (Patient 3) and 28211977. Despite many other genes involved in the large deletion at 1q21.3, these patients shared some similar features to those being described above with a small DNA sequence mutation of GATAD2B gene.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)