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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
  • GATA Zinc Finger Domain-Containing Protein 1 3
  • 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 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 for GATAD1 Gene

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

Additional gene information for GATAD1 Gene

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

Genomics for GATAD1 Gene

GeneHancer (GH) Regulatory Elements for GATAD1 Gene

Promoters and enhancers for GATAD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J092446 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 679.5 +0.6 564 2.5 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 GATAD1 TMBIM7P ENSG00000243107 KRIT1 RBM48 PIR52704
GH07J092449 Promoter 0.6 EPDnew 650.7 +2.2 2197 0.1 ZNF512 TMBIM7P GATAD1 PIR52704
GH07J091879 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 27.5 -566.8 -566806 1.7 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 MTERF1 ENSG00000243107 AKAP9 KRIT1 GATAD1 PEX1 CYP51A1 ANKIB1 GC07P091818
GH07J092588 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.4 +142.4 142423 2.3 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC FAM133B ENSG00000243107 KRIT1 PEX1 MTERF1 GATAD1 RBM48 ANKIB1 AKAP9 ERVW-1
GH07J092829 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.3 +386.7 386736 9.6 FEZF1 DMAP1 IRF4 YY1 ZNF143 SP3 MEF2D ZNF610 GLIS1 NBN CDK6 ENSG00000243107 FAM133B KRIT1 GATAD1 PEX1 MTERF1 AKAP9 SAMD9 LOC101927497
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for GATAD1 Gene

Genomic Locations for GATAD1 Gene
chr7:92,447,448-92,491,328
(GRCh38/hg38)
Size:
43,881 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:
ProtoNet:

Suggested Antigen Peptide Sequences for GATAD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GATAD1: view

No data available for 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).

Phenotypes From GWAS Catalog for GATAD1 Gene

Gene Ontology (GO) - Molecular Function for GATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0003700 DNA binding transcription factor activity IEA --
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

miRNA for GATAD1 Gene

miRTarBase miRNAs that target GATAD1

Clone Products

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
mitochondrion 1
peroxisome 1

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 IEA,IDA 21965549
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with GATAD1: view

Pathways & Interactions for GATAD1 Gene

SuperPathways for GATAD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0031497 chromatin assembly IDA 20850016
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

Unigene Clusters for GATAD1 Gene

GATA zinc finger domain containing 1:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for GATAD1 Gene

GeneLoc Exon Structure for
GATAD1
ECgene alternative splicing isoforms for
GATAD1

Expression for GATAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of GATAD1 Gene:

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(4.4)

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 34 33
  • 98.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GATAD1 34 33
  • 89.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GATAD1 34 33
  • 89.1 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gatad1 33
  • 87.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GATAD1 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gatad1 16 34 33
  • 85.84 (n)
oppossum
(Monodelphis domestica)
Mammalia GATAD1 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATAD1 34 33
  • 78.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATAD1 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gatad1 33
  • 70.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia odag-pending-prov 33
zebrafish
(Danio rerio)
Actinopterygii gatad1 34 33
  • 68.32 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3949 33
fruit fly
(Drosophila melanogaster)
Insecta CG13367 34
  • 25 (a)
OneToOne
Species where no ortholog for GATAD1 was found in the sources mined by GeneCards:
  • 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

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 from dbSNP and Humsavar for GATAD1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs10281879 benign, not specified, Cardiomyopathy, dilated, 2b 92,447,889(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057517467 likely-pathogenic, Zellweger syndrome, Peroxisome biogenesis disorder 1B 92,489,776(+) G/A genic_downstream_transcript_variant, intron_variant
rs1057517472 likely-pathogenic, Zellweger syndrome, Peroxisome biogenesis disorder 1B 92,494,554(+) A/AA genic_downstream_transcript_variant, non_coding_transcript_variant
rs1057517480 likely-pathogenic, Peroxisome biogenesis disorder 1B, Zellweger syndrome 92,489,803(+) C/A genic_downstream_transcript_variant, intron_variant
rs1057517481 likely-pathogenic, Zellweger syndrome, Peroxisome biogenesis disorder 1B 92,494,538(+) G/A/C genic_downstream_transcript_variant, non_coding_transcript_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)

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

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

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 2b
  • cmd2b
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
deafness enamel hypoplasia nail defects
  • bilateral sensorineural hearing loss, enamel hypoplasia and nail defects
peroxisome biogenesis disorder 11a
  • pbd11a
peroxisome biogenesis disorder 11b
  • pbd11b
- 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
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 58
  2. 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 44 58
  3. Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers. (PMID: 20850016) Vermeulen M … Mann M (Cell 2010) 3 4 58
  4. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for GATAD1 Gene

Sources for GATAD1 Gene

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