Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57798
Gene name Gene Name - the full gene name approved by the HGNC.
GATA zinc finger domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GATAD1
Synonyms (NCBI Gene) Gene synonyms aliases
CMD2B, ODAG, RG083M05.2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614518 29941 ENSG00000157259
Protein
UniProt ID 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
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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
Dilated Cardiomyopathy Dilated cardiomyopathy 2B rs387907188 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
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy 2 N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathy Dilated Associate 21965549
Glioma Stimulate 31286678
Heart Failure Associate 21965549
Neoplasms Associate 31286678, 39342037