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Aliases for GATAD1 Gene

Aliases for GATAD1 Gene

  • GATA Zinc Finger Domain Containing 1 2 3 5
  • Ocular Development-Associated Gene Protein 3 4
  • ODAG 3 4
  • Ocular Development Associated Gene 2
  • RG083M05.2 3
  • CMD2B 3

External Ids for GATAD1 Gene

Previous GeneCards Identifiers for GATAD1 Gene

  • GC07P091722
  • GC07P091914
  • GC07P092076
  • GC07P086685

Summaries for GATAD1 Gene

Entrez Gene Summary for GATAD1 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

GeneCards Summary for GATAD1 Gene

GATAD1 (GATA Zinc Finger Domain Containing 1) is a Protein Coding gene. Diseases associated with GATAD1 include Cardiomyopathy, Dilated, 2B and Gatad1-Related Dilated Cardiomyopathy. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding.

UniProtKB/Swiss-Prot for GATAD1 Gene

  • Component of some chromatin complex recruited to chromatin sites methylated Lys-4 of histone H3 (H3K4me).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATAD1 Gene

Genomics for GATAD1 Gene

Regulatory Elements for GATAD1 Gene

Enhancers for GATAD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GATAD1 on UCSC Golden Path with GeneCards custom track

Promoters for GATAD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GATAD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GATAD1 Gene

92,447,448 bp from pter
92,491,328 bp from pter
43,881 bases
Plus strand

Genomic View for GATAD1 Gene

Genes around GATAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GATAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATAD1 Gene

Proteins for GATAD1 Gene

  • Protein details for GATAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    GATA zinc finger domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B2RE37
    • D6W5Q5
    • Q8N5Y5
    • Q99995
    • Q9H689

    Protein attributes for GATAD1 Gene

    269 amino acids
    Molecular mass:
    28690 Da
    Quaternary structure:
    • Component of a chromatin complex, at least composed of KDM5A, GATAD1 and EMSY.
    • Sequence=AAB46345.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for GATAD1 Gene

Proteomics data for GATAD1 Gene at MOPED

Post-translational modifications for GATAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATAD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GATAD1 Gene

Domains & Families for GATAD1 Gene

Gene Families for GATAD1 Gene

Protein Domains for GATAD1 Gene


Suggested Antigen Peptide Sequences for GATAD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 GATA-type zinc finger.
  • Contains 1 GATA-type zinc finger.
genes like me logo Genes that share domains with GATAD1: view

Function for GATAD1 Gene

Molecular function for GATAD1 Gene

UniProtKB/Swiss-Prot Function:
Component of some chromatin complex recruited to chromatin sites methylated Lys-4 of histone H3 (H3K4me).

Gene Ontology (GO) - Molecular Function for GATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with GATAD1: view
genes like me logo Genes that share phenotypes with GATAD1: view

Human Phenotype Ontology for GATAD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GATAD1 Gene

miRTarBase miRNAs that target GATAD1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GATAD1 Gene

Localization for GATAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATAD1 Gene

Subcellular locations from

Jensen Localization Image for GATAD1 Gene COMPARTMENTS Subcellular localization image for GATAD1 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for GATAD1 Gene

Pathways & Interactions for GATAD1 Gene

SuperPathways for GATAD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GATAD1 Gene


No data available for Pathways by source and SIGNOR curated interactions for GATAD1 Gene

Drugs & Compounds for GATAD1 Gene

No Compound Related Data Available

Transcripts for GATAD1 Gene

Unigene Clusters for GATAD1 Gene

GATA zinc finger domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GATAD1 Gene

No ASD Table

Relevant External Links for GATAD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GATAD1 Gene

mRNA expression in normal human tissues for GATAD1 Gene

Protein differential expression in normal tissues from HIPED for GATAD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.9), Heart (13.3), Placenta (12.0), Fetal testis (8.8), and Retina (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GATAD1 Gene

SOURCE GeneReport for Unigene cluster for GATAD1 Gene Hs.21145

mRNA Expression by UniProt/SwissProt for GATAD1 Gene

Tissue specificity: Ubiquitously expressed among various tissue types. Expressed in left ventricular myocytes.
genes like me logo Genes that share expression patterns with GATAD1: view

Protein tissue co-expression partners for GATAD1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GATAD1 Gene

Orthologs for GATAD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GATAD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GATAD1 35
  • 89.71 (n)
  • 92.57 (a)
  • 95 (a)
(Canis familiaris)
Mammalia GATAD1 35
  • 89.1 (n)
  • 91.45 (a)
  • 92 (a)
(Mus musculus)
Mammalia Gatad1 35
  • 85.84 (n)
  • 91.35 (a)
Gatad1 16
Gatad1 36
  • 94 (a)
(Pan troglodytes)
Mammalia GATAD1 35
  • 98.51 (n)
  • 97.77 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Gatad1 35
  • 87.75 (n)
  • 90.91 (a)
(Monodelphis domestica)
Mammalia GATAD1 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia GATAD1 36
  • 87 (a)
(Gallus gallus)
Aves GATAD1 35
  • 78.18 (n)
  • 87.95 (a)
  • 85 (a)
(Anolis carolinensis)
Reptilia GATAD1 36
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gatad1 35
  • 70.77 (n)
  • 76.12 (a)
African clawed frog
(Xenopus laevis)
Amphibia odag-pending-prov 35
(Danio rerio)
Actinopterygii gatad1 35
  • 68.32 (n)
  • 81.4 (a)
gatad1 36
  • 82 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3949 35
fruit fly
(Drosophila melanogaster)
Insecta CG13367 36
  • 25 (a)
Species with no ortholog for GATAD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GATAD1 Gene

Gene Tree for GATAD1 (if available)
Gene Tree for GATAD1 (if available)

Paralogs for GATAD1 Gene

No data available for Paralogs for GATAD1 Gene

Variants for GATAD1 Gene

Sequence variations from dbSNP and Humsavar for GATAD1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10281879 - 92,447,889(+) ctggg(A/G)gcagc nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_068556 Cardiomyopathy, dilated 2B (CMD2B)
rs34768413 - 92,456,449(-) TGACC(A/G)TGACT intron-variant, nc-transcript-variant, reference, missense
rs1045701 -- 92,458,782(+) ATAAC(C/T)TTCTA intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1053204 -- 92,467,028(-) aaata(C/T)atata intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GATAD1 Gene

Variant ID Type Subtype PubMed ID
nsv5840 CNV Insertion 18451855

Variation tolerance for GATAD1 Gene

Residual Variation Intolerance Score: 54.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.92; 59.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GATAD1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATAD1 Gene

Disorders for GATAD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GATAD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 2b
  • cmd2b
gatad1-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 2b
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards


  • Cardiomyopathy, dilated 2B (CMD2B) [MIM:614672]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:21965549}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GATAD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GATAD1: view

No data available for Genatlas for GATAD1 Gene

Publications for GATAD1 Gene

  1. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. (PMID: 21965549) Theis J.L. … Olson T.M. (Circ. Cardiovasc. Genet. 2011) 3 4 67
  2. Ocular development-associated gene (ODAG), a novel gene highly expressed in ocular development. (PMID: 12062807) Tsuruga T. … Mishima H.K. (Gene 2002) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Decreased expression and DNA methylation levels of GATAD1 in preeclamptic placentas. (PMID: 24462704) Ma X. … Jiang S.W. (Cell. Signal. 2014) 3

Products for GATAD1 Gene

Sources for GATAD1 Gene