Gene Gene information from NCBI Gene database.
Entrez ID 57798
Gene name GATA zinc finger domain containing 1
Gene symbol GATAD1
Synonyms (NCBI Gene)
CMD2BODAGRG083M05.2
Chromosome 7
Chromosome location 7q21.2
Summary The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. A
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs387907188 T>C Pathogenic Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
762
miRTarBase ID miRNA Experiments Reference
MIRT019748 hsa-miR-375 Microarray 20215506
MIRT024438 hsa-miR-215-5p Microarray 19074876
MIRT026211 hsa-miR-192-5p Microarray 19074876
MIRT695611 hsa-miR-548an HITS-CLIP 23313552
MIRT695610 hsa-miR-6768-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 21965549
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614518 29941 ENSG00000157259
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WUU5
Protein name GATA zinc finger domain-containing protein 1 (Ocular development-associated gene protein)
Protein function Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3).
PDB 8Q1S
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed among various tissue types. Expressed in left ventricular myocytes. {ECO:0000269|PubMed:21965549}.
Sequence
MPLGLKPTCSVCKTTSSSMWKKGAQGEILCHHCTGRGGAGSGGAGSGAAGGTGGSGGGGF
GAATFASTSATPPQSNGGGGGKQSKQEIHRRSARLRNTKYKSAPAAEKKVSTKGKGRRHI
FKLKNPIKAPESVSTIITAESIFYKGVYYQIGDVVSVIDEQDGKPYYAQIRGFIQDQYCE
KSAALTWLIPTLSSPRDQFDPASYIIGPEEDLPRKMEYLEFVCHAPSEYFKSRSSPFPTV
PTRPEKGYIWTHVGPTPAITIKESVANHL
Sequence length 269
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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
Dilated cardiomyopathy 2B Pathogenic rs387907188 RCV000024350
★★★★☆
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
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 2B CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION 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
Cardiomyopathies Cardiomyopathy GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 21965549 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Dilated Cardiomyopathy HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 2B Cardiomyopathy UNIPROT_DG 21965549
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 2B Cardiomyopathy CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 2B Cardiomyopathy GENOMICS_ENGLAND_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 2B Cardiomyopathy CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 21965549
★☆☆☆☆
Found in Text Mining only
Choriocarcinoma Choriocarcinoma BEFREE 24462704
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure HPO_DG
★☆☆☆☆
Found in Text Mining only