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] See more...

Aliases for GATAD1 Gene

Aliases for GATAD1 Gene

  • GATA Zinc Finger Domain Containing 1 2 3 5
  • ODAG 2 3 4
  • GATA Zinc Finger Domain-Containing Protein 1 3 4
  • Ocular Development-Associated Gene Protein 3 4
  • RG083M05.2 2 3
  • Ocular Development Associated Gene 2
  • FLJ22489 2
  • GATAD1 5
  • 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 Familial Isolated Dilated Cardiomyopathy. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding.

UniProtKB/Swiss-Prot Summary for GATAD1 Gene

  • Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GATAD1 Gene

Genomics for GATAD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GATAD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GATAD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GATAD1

Top Transcription factor binding sites by QIAGEN in the GATAD1 gene promoter:
  • C/EBPalpha
  • E47
  • Evi-1
  • GATA-1
  • HNF-4alpha1
  • HNF-4alpha2
  • Olf-1
  • Pax-4a
  • RORalpha1
  • Tal-1beta

Genomic Locations for GATAD1 Gene

Genomic Locations for GATAD1 Gene
chr7:92,447,448-92,494,631
(GRCh38/hg38)
Size:
47,184 bases
Orientation:
Plus strand
chr7:92,076,765-92,088,742
(GRCh37/hg19)
Size:
11,978 bases
Orientation:
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:
    Q8WUU5-GATD1_HUMAN
    Recommended name:
    GATA zinc finger domain-containing protein 1
    Protein Accession:
    Q8WUU5
    Secondary Accessions:
    • B2RE37
    • D6W5Q5
    • Q8N5Y5
    • Q99995
    • Q9H689

    Protein attributes for GATAD1 Gene

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

neXtProt entry for GATAD1 Gene

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GATAD1 Gene

InterPro:
Blocks:
  • Zn-finger, GATA type
ProtoNet:

Suggested Antigen Peptide Sequences for GATAD1 Gene

GenScript: Design optimal peptide antigens:
  • Ocular development-associated gene protein (GATD1_HUMAN)
genes like me logo Genes that share domains with GATAD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GATAD1 Gene

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), with a preference for trimethylated form (H3K4me3).

Phenotypes From GWAS Catalog for GATAD1 Gene

Gene Ontology (GO) - Molecular Function for GATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
GO:0046872 metal ion 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

CRISPR Products

miRNA for GATAD1 Gene

miRTarBase miRNAs that target GATAD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GATAD1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 21965549
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with GATAD1: view

Pathways & Interactions for GATAD1 Gene

PathCards logo

SuperPathways for GATAD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IBA 21873635
GO:0006338 chromatin remodeling IDA 20850016
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with GATAD1: view

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

mRNA/cDNA for GATAD1 Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATAD1

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

No ASD Table

Relevant External Links for GATAD1 Gene

GeneLoc Exon Structure for
GATAD1

Expression for GATAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for GATAD1 Gene



Protein tissue co-expression partners for GATAD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GATAD1

SOURCE GeneReport for Unigene cluster for GATAD1 Gene:

Hs.21145

mRNA Expression by UniProt/SwissProt for GATAD1 Gene:

Q8WUU5-GATD1_HUMAN
Tissue specificity: Ubiquitously expressed among various tissue types. Expressed in left ventricular myocytes.

Evidence on tissue expression from TISSUES for GATAD1 Gene

  • Nervous system(4.5)
  • Heart(2.1)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GATAD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with GATAD1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia GATAD1 30 31
  • 98.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GATAD1 30 31
  • 89.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GATAD1 30 31
  • 89.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gatad1 30
  • 87.75 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GATAD1 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gatad1 30 17 31
  • 85.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GATAD1 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GATAD1 30 31
  • 78.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GATAD1 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gatad1 30
  • 70.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia odag-pending-prov 30
Zebrafish
(Danio rerio)
Actinopterygii gatad1 30 31
  • 68.32 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3949 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG13367 31
  • 25 (a)
OneToOne
Species where no ortholog for GATAD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for GATAD1 (if available)
TreeFam:
Gene Tree for GATAD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GATAD1: view image

Paralogs for GATAD1 Gene

No data available for Paralogs for GATAD1 Gene

Variants for GATAD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GATAD1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
638934 Uncertain Significance: Cardiomyopathy, dilated, 2b 92,448,801(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
639273 Uncertain Significance: Cardiomyopathy, dilated, 2b 92,454,605(+) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
643006 Uncertain Significance: Peroxisome biogenesis disorder 1A (Zellweger) 92,491,272(+) C/T SYNONYMOUS_VARIANT
643238 Uncertain Significance: Cardiomyopathy, dilated, 2b 92,454,581(+) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
668316 Likely Benign: not provided 92,447,721(+) C/T NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for GATAD1 Gene

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)

Additional Variant Information for GATAD1 Gene

Human Gene Mutation Database (HGMD)
GATAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATAD1

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

Disorders for GATAD1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GATAD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 2b
  • cmd2b
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
peroxisome biogenesis disorder 1a
  • pbd1a
zellweger spectrum disorder
  • cerebrohepatorenal syndrome
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GATD1_HUMAN
  • 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.

Additional Disease Information for GATAD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 JL … Olson TM (Circulation. Cardiovascular genetics 2011) 3 4
  2. Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers. (PMID: 20850016) Vermeulen M … Mann M (Cell 2010) 3 4
  3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 41
  4. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for GATAD1 Gene

Sources for GATAD1 Gene