Gene Gene information from NCBI Gene database.
Entrez ID 54815
Gene name GATA zinc finger domain containing 2A
Gene symbol GATAD2A
Synonyms (NCBI Gene)
p66alpha
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
1031
miRTarBase ID miRNA Experiments Reference
MIRT025615 hsa-miR-10a-5p Sequencing 20371350
MIRT027021 hsa-miR-103a-3p Sequencing 20371350
MIRT027485 hsa-miR-98-5p Microarray 19088304
MIRT031446 hsa-miR-16-5p Sequencing 20371350
MIRT049559 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
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:0005515 Function Protein binding IPI 12183469, 16415179, 25416956, 25753662, 26030138, 27732854, 32296183, 32814053, 33961781, 35916866
GO:0005634 Component Nucleus IDA 12183469, 27732854, 28977666, 33283408
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614997 29989 ENSG00000167491
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86YP4
Protein name Transcriptional repressor p66-alpha (Hp66alpha) (GATA zinc finger domain-containing protein 2A)
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
PDB 2L2L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16563 P66_CC 136 179 Coiled-coil and interaction region of P66A and P66B with MBD2 Coiled-coil
PF00320 GATA 417 451 GATA zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous, both in fetal and adult tissues. {ECO:0000269|PubMed:12183469}.
Sequence
MTEEACRTRSQKRALERDPTEDDVESKKIKMERGLLASDLNTDGDMRVTPEPGAGPTQGL
LRATEATAMAMGRGEGLVGDGPVDMRTSHSDMKSERRPPSPDVIVLSDNEQPSSPRVNGL
TTVALKETSTEALMKSSPEERERMIKQLKEELRLEEAKLVLLKKLRQSQIQKEATAQKPT
GSVGSTVTTPPPLVRGTQNIPAGKPSLQTSSARMPGSVIPPPLVRGGQQASSKLGPQASS
QVVMPPLVRGAQQIHSIRQHSSTGPPPLLLAPRASVPSVQIQGQRIIQQGLIRVANVPNT
SLLVNIPQPTPASLKGTTATSAQANSTPTSVASVVTSAESPASRQAAAKLALRKQLEKTL
LEIPPPKPPAPEMNFLPSAANNEFIYLVGLEEVVQNLLETQGRMSAATVLSREPYMCAQC
KTDFTCRWREEKSGAIMCENCMTTNQKKALK
VEHTSRLKAAFVKALQQEQEIEQRLLQQG
TAPAQAKAEPTAAPHPVLKQVIKPRRKLAFRSGEARDWSNGAVLQASSQLSRGSATTPRG
VLHTFSPSPKLQNSASATALVSRTGRHSERTVSAGKGSATSNWKKTPLSTGGTLAFVSPS
LAVHKSSSAVDRQREYLLDMIPPRSIPQSATWK
Sequence length 633
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
GATAD2A-associated neurodevelopmental disorder Likely pathogenic rs2513830025 RCV002284129
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Brain Diseases Brain disease Pubtator 37181331 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 32934226 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 37181331 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 22325160
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASDB_DG 22325160
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 28869590
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty liver Pubtator 35881683 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of thyroid Thyroid cancer BEFREE 28260108
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28260108
★☆☆☆☆
Found in Text Mining only