Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57459
Gene name Gene Name - the full gene name approved by the HGNC.
GATA zinc finger domain containing 2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GATAD2B
Synonyms (NCBI Gene) Gene synonyms aliases
GANDS, MRD18, P66beta, p68
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez 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 intel
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587776931 G>A Pathogenic Stop gained, coding sequence variant
rs756062872 A>- Likely-pathogenic Frameshift variant, coding sequence variant
rs761820222 G>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
rs797045594 C>- Pathogenic Coding sequence variant, frameshift variant
rs886037647 CT>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016222 hsa-miR-590-3p Sequencing 20371350
MIRT025107 hsa-miR-181a-5p Sequencing 20371350
MIRT028270 hsa-miR-32-5p Sequencing 20371350
MIRT028420 hsa-miR-30a-5p Proteomics 18668040
MIRT051773 hsa-let-7c-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000781 Component Chromosome, telomeric region IDA 25150861
GO:0000785 Component Chromatin HDA 16217013
GO:0005515 Function Protein binding IPI 24722188, 25123934, 25150861, 25416956, 26030138, 26816381, 29961565, 31413325, 31515488, 32296183, 33961781, 35512704
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614998 30778 ENSG00000143614
Protein
UniProt ID Q8WXI9
Protein name Transcriptional repressor p66-beta (GATA zinc finger domain-containing protein 2B) (p66/p68)
Protein 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 (Pu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16563 P66_CC 157 200 Coiled-coil and interaction region of P66A and P66B with MBD2 Coiled-coil
PF00320 GATA 420 454 GATA zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12183469}.
Sequence
MDRMTEDALRLNLLKRSLDPADERDDVLAKRLKMEGHEAMERLKMLALLKRKDLANLEVP
HELPTKQDGSGVKGYEEKLNGNLRPHGDNRTAGRPGKENINDEPVDMSARRSEPERGRLT
PSPDIIVLSDNEASSPRSSSRMEERLKAANLEMFKGKGIEERQQLIKQLRDELRLEEARL
VLLKKLRQSQLQKENVVQKT
PVVQNAASIVQPSPAHVGQQGLSKLPSRPGAQGVEPQNLR
TLQGHSVIRSATNTTLPHMLMSQRVIAPNPAQLQGQRGPPKPGLVRTTTPNMNPAINYQP
QSSSSVPCQRTTSSAIYMNLASHIQPGTVNRVSSPLPSPSAMTDAANSQAAAKLALRKQL
EKTLLEIPPPKPPAPLLHFLPSAANSEFIYMVGLEEVVQSVIDSQGKSCASLLRVEPFVC
AQCRTDFTPHWKQEKNGKILCEQCMTSNQKKALK
AEHTNRLKNAFVKALQQEQEIEQRLQ
QQAALSPTTAPAVSSVSKQETIMRHHTLRQAPQPQSSLQRGIPTSARSMLSNFAQAPQLS
VPGGLLGMPGVNIAYLNTGIGGHKGPSLADRQREYLLDMIPPRSISQSISGQK
Sequence length 593
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ATP-dependent chromatin remodeling   HDACs deacetylate histones
Regulation of TP53 Activity through Acetylation
RNA Polymerase I Transcription Initiation
Regulation of PTEN gene transcription
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome rs1057521041, rs1557781252, rs1064794066, rs1570938014, rs1064793829, rs1570929072, rs587776931, rs1131692164, rs1570929867, rs886037647, rs1131692165, rs1570929904, rs797045594, rs1553188314, rs756062872
View all (10 more)
N/A
Mental retardation intellectual disability rs1553188463 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dermatitis Atopic dermatitis N/A N/A GWAS
Prostate cancer Prostate cancer, Prostate cancer (advanced) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Remodeling Associate 31949314
Breast Neoplasms Associate 36770598
Carcinogenesis Associate 34890713
Carcinoma Hepatocellular Inhibit 23398123
Cognition Disorders Associate 34470925
Colorectal Neoplasms Associate 34890713, 7652466
Congenital Abnormalities Associate 34470925
Developmental Disabilities Associate 31949314
Intellectual Disability Associate 34470925
Megalencephaly Associate 31949314