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This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016] See more...
Aliases for GATAD2B Gene
Aliases for GATAD2B Gene
External Ids for GATAD2B Gene
- HGNC: 30778
- Entrez Gene: 57459
- Ensembl: ENSG00000143614
- OMIM: 614998
- UniProtKB: Q8WXI9
Previous GeneCards Identifiers for GATAD2B Gene
- GC01M150593
- GC01M152044
- GC01M153777
- GC01M125139
Summaries for GATAD2B Gene
-
This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]
GeneCards Summary for GATAD2B Gene
GATAD2B (GATA Zinc Finger Domain Containing 2B) is a Protein Coding gene. Diseases associated with GATAD2B include Mental Retardation, Autosomal Dominant 18 and Meninges Sarcoma. Among its related pathways are Regulation of TP53 Activity through Acetylation and Chromatin organization. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is GATAD2A.
UniProtKB/Swiss-Prot Summary for GATAD2B Gene
-
Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development.
Additional gene information for GATAD2B Gene
- HGNC(30778)
- Entrez Gene(57459)
- Ensembl(ENSG00000143614)
- OMIM(614998)
- UniProtKB(Q8WXI9)
- Open Targets Platform(ENSG00000143614)
- Monarch Initiative
- Search for GATAD2B at DataMed
- Search for GATAD2B at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GATAD2B Gene
Genomics for GATAD2B Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GATAD2B 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 GATAD2B on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GATAD2B
- Top Transcription factor binding sites by QIAGEN in the GATAD2B gene promoter:
-
- c-Myb
- CUTL1
- ER-alpha
- GATA-2
- Nkx2-5
- POU2F1
- POU2F1a
- POU2F1b
- POU2F1c
- RREB-1
Genomic Locations for GATAD2B Gene
Genomic Locations for GATAD2B Gene
- chr1:153,789,030-153,923,953
- (GRCh38/hg38)
- Size:
- 134,924 bases
- Orientation:
- Minus strand
- chr1:153,777,201-153,895,451
- (GRCh37/hg19)
- Size:
- 118,251 bases
- Orientation:
- Minus strand
Genomic View for GATAD2B Gene
Genes around GATAD2B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q21.3 by HGNC
- 1q21.3 by Entrez Gene
- 1q21.3 by Ensembl
GATAD2B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GATAD2B Gene
Proteins for GATAD2B Gene
-
Protein details for GATAD2B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8WXI9-P66B_HUMAN
- Recommended name:
- Transcriptional repressor p66-beta
- Protein Accession:
- Q8WXI9
- D3DUZ2
- Q5VUR2
- Q7LG68
- Q9ULS0
Protein attributes for GATAD2B Gene
- Size:
- 593 amino acids
- Molecular mass:
- 65261 Da
- Quaternary structure:
-
- Interacts with MBD2 and MBD3 (PubMed:11756549, PubMed:12183469, PubMed:16415179). Interaction with MBD2 is required for the enhancement of MBD2-mediated repression and for targeting to the chromatin (PubMed:11756549, PubMed:12183469, PubMed:16415179). Component of the MeCP1 histone deacetylase complex (PubMed:11756549). Interacts with histone tails, including that of histones H2A, H2B, H3 and H4 (PubMed:16415179). Interacts with ERCC6 (PubMed:26030138).
Protein Expression for GATAD2B Gene
Post-translational modifications for GATAD2B Gene
Other Protein References for GATAD2B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-GATAD2B (aa 3-110) polyclonal antibody
- Creative Biolabs Recombinant Mouse anti-Human GATAD2B Monoclonal antibody (EML1637)
- Novus Biologicals Antibodies for GATAD2B
-
Abcam antibodies for GATAD2B
- Invitrogen Antibodies for GATAD2B (AFLGC-GATAD2B)
-
Biorbyt antibodies for GATAD2B
-
Boster Bio Antibodies for GATAD2B
-
Santa Cruz Biotechnology (SCBT) Antibodies for GATAD2B
- Sino Biological Antibodies for GATAD2B
Protein Products
-
OriGene Purified Proteins for GATAD2B
- Search Origene for MassSpec and Protein Over-expression Lysates for GATAD2B
- Origene Custom Protein Services for GATAD2B
- antibodies-online: Show 3 available GATAD2B Proteins ranked by validation data
- Compare Top GATAD2B Proteins
-
Quality Products:
-
Abcam proteins for GATAD2B
No data available for DME Specific Peptides for GATAD2B Gene
Domains & Families for GATAD2B Gene
Gene Families for GATAD2B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for GATAD2B Gene
- InterPro:
- Blocks:
-
- Zn-finger, GATA type
- ProtoNet:
Suggested Antigen Peptide Sequences for GATAD2B Gene
- GenScript: Design optimal peptide antigens:
-
- p66/p68 (P66B_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8WXI9UniProtKB/Swiss-Prot:
P66B_HUMAN :- Both CR1 and CR2 regions are required for speckled nuclear localization.
- Domain:
-
- Both CR1 and CR2 regions are required for speckled nuclear localization.
Function for GATAD2B Gene
Molecular function for GATAD2B Gene
- UniProtKB/Swiss-Prot Function:
- Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development.
Phenotypes From GWAS Catalog for GATAD2B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding | HDA | 16217013 |
| GO:0005515 | protein binding | IPI | 24722188 |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0031492 | contributes_to nucleosomal DNA binding | HDA | 16217013 |
| GO:0043565 | sequence-specific DNA binding | IEA | -- |
Phenotypes for GATAD2B Gene
- MGI mutant phenotypes for GATAD2B:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GATAD2B:
Animal Models for GATAD2B Gene
- MGI Knock Outs for GATAD2B:
-
- Gatad2b Gatad2b<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GATAD2B - Select products 50% OFF >
- * GATAD2B CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GATAD2B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GATAD2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for GATAD2B
miRNA for GATAD2B Gene
- miRTarBase miRNAs that target GATAD2B
-
- hsa-miR-590-3p (MIRT016222)
- hsa-miR-181a-5p (MIRT025107)
- hsa-miR-32-5p (MIRT028270)
- hsa-miR-30a-5p (MIRT028420)
- hsa-miR-744-5p (MIRT037452)
- hsa-miR-505-5p (MIRT037973)
- hsa-miR-221-5p (MIRT038664)
- hsa-miR-766-3p (MIRT039049)
- hsa-miR-193b-3p (MIRT041587)
- hsa-miR-484 (MIRT041765)
- hsa-miR-331-3p (MIRT043393)
- hsa-miR-365a-3p (MIRT044043)
- hsa-miR-186-5p (MIRT045229)
- hsa-miR-221-3p (MIRT046962)
- hsa-let-7c-5p (MIRT051773)
- hsa-miR-1260b (MIRT052690)
- hsa-miR-25-3p (MIRT059659)
- hsa-miR-92a-3p (MIRT059660)
- hsa-miR-363-3p (MIRT059662)
- hsa-miR-367-3p (MIRT059663)
- hsa-miR-338-5p (MIRT059665)
- hsa-miR-92b-3p (MIRT059667)
- hsa-miR-19a-3p (MIRT130677)
- hsa-miR-19b-3p (MIRT130678)
- hsa-miR-1199-5p (MIRT130735)
- hsa-miR-6751-3p (MIRT130738)
- hsa-miR-4760-3p (MIRT241412)
- hsa-miR-6832-3p (MIRT266673)
- hsa-miR-642a-5p (MIRT333293)
- hsa-miR-3120-3p (MIRT333295)
- hsa-miR-4469 (MIRT333297)
- hsa-miR-6892-3p (MIRT333301)
- hsa-miR-335-3p (MIRT333302)
- hsa-miR-2276-5p (MIRT333323)
- hsa-miR-4468 (MIRT476462)
- hsa-miR-3915 (MIRT476463)
- hsa-miR-1255b-5p (MIRT476464)
- hsa-miR-1255a (MIRT476465)
- hsa-miR-6797-5p (MIRT476466)
- hsa-miR-1249-5p (MIRT476467)
- hsa-miR-765 (MIRT476468)
- hsa-miR-4533 (MIRT476469)
- hsa-miR-7-5p (MIRT476470)
- hsa-miR-3928-3p (MIRT476471)
- hsa-miR-6876-5p (MIRT476472)
- hsa-miR-4779 (MIRT476473)
- hsa-miR-4476 (MIRT476474)
- hsa-miR-6891-5p (MIRT476475)
- hsa-miR-3173-3p (MIRT476476)
- hsa-miR-6824-5p (MIRT507145)
- hsa-miR-8059 (MIRT507146)
- hsa-miR-4471 (MIRT507147)
- hsa-miR-6823-3p (MIRT507148)
- hsa-miR-2114-3p (MIRT507149)
- hsa-miR-29a-5p (MIRT507150)
- hsa-miR-4293 (MIRT507151)
- hsa-miR-6783-5p (MIRT507152)
- hsa-miR-6792-3p (MIRT572759)
- hsa-miR-6075 (MIRT572760)
- hsa-miR-3162-3p (MIRT572761)
- hsa-miR-6865-3p (MIRT572762)
- hsa-miR-30e-3p (MIRT612995)
- hsa-miR-30d-3p (MIRT612996)
- hsa-miR-30a-3p (MIRT612997)
- hsa-miR-329-5p (MIRT612998)
- hsa-miR-4801 (MIRT612999)
- hsa-miR-4731-3p (MIRT613000)
- hsa-miR-513b-5p (MIRT703344)
- hsa-miR-3119 (MIRT703345)
- hsa-miR-6069 (MIRT703346)
- hsa-miR-7151-5p (MIRT703347)
- hsa-miR-3158-3p (MIRT703348)
- hsa-miR-4446-3p (MIRT703349)
- hsa-miR-5088-5p (MIRT703350)
- hsa-miR-589-3p (MIRT703351)
- hsa-miR-4713-5p (MIRT717523)
- hsa-miR-1260a (MIRT717524)
- hsa-miR-2116-3p (MIRT717525)
- hsa-miR-532-3p (MIRT717526)
- hsa-miR-150-5p (MIRT717527)
- hsa-miR-6887-3p (MIRT717528)
- hsa-miR-1224-3p (MIRT717529)
- hsa-miR-1255b-2-3p (MIRT717530)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GATAD2B
- Browse OriGene Inhibitory RNA Products For GATAD2B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATAD2B
Clone Products
- Applied Biological Materials (abm): Clones for GATAD2B - Select products 50% OFF >
- * GATAD2B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GATAD2B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GATAD2B
Cell Line Products
-
Horizon Cell Lines for GATAD2B
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GATAD2B Gene
Localization for GATAD2B Gene
Subcellular locations from UniProtKB/Swiss-Prot for GATAD2B Gene
- Nucleus speckle. Note=Speckled nuclear localization requires both CR1 and CR2 regions. {ECO:0000269 PubMed:16415179}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | HDA | 16217013 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0016581 | NuRD complex | IBA | 21873635 |
| GO:0016607 | nuclear speck | IEA | -- |
Pathways & Interactions for GATAD2B Gene
Pathways by source for GATAD2B Gene
1 BioSystems pathway for GATAD2B Gene
15 Reactome pathways for GATAD2B Gene
1 GeneGo (Thomson Reuters) pathway for GATAD2B Gene
- Transcription Sin3 and NuRD in transcription regulation
Interacting Proteins for GATAD2B Gene
Selected Interacting proteins:
Q8WXI9-P66B_HUMAN
ENSP00000357644
for GATAD2B Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GATAD2B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0043044 | ATP-dependent chromatin remodeling | HDA | 16217013 |
No data available for SIGNOR curated interactions for GATAD2B Gene
Transcripts for GATAD2B Gene
mRNA/cDNA for GATAD2B Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000368655 7475 nts (view in UCSC)
- ENST00000634401 867 nts (view in UCSC)
- ENST00000634408 1825 nts (view in UCSC)
- ENST00000634544 2342 nts (view in UCSC)
- ENST00000634564 788 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GATAD2B - Select products 50% OFF >
- * GATAD2B CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GATAD2B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GATAD2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for GATAD2B
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GATAD2B
- Browse OriGene Inhibitory RNA Products For GATAD2B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATAD2B
Clone Products
- Applied Biological Materials (abm): Clones for GATAD2B - Select products 50% OFF >
- * GATAD2B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GATAD2B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GATAD2B
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: |
Relevant External Links for GATAD2B Gene
- GeneLoc Exon Structure for
- GATAD2B
Expression for GATAD2B Gene
This gene is overexpressed in Bone marrow mesenchymal stem cell (11.1), CD8 Tcells (10.8), and Cervix (10.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GATAD2B Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GATAD2B
SOURCE GeneReport for Unigene cluster for GATAD2B Gene:
Hs.4779mRNA Expression by UniProt/SwissProt for GATAD2B Gene:
Q8WXI9-P66B_HUMAN
Tissue specificity:
Widely expressed.
Evidence on tissue expression from TISSUES for GATAD2B Gene
- Nervous system(4.6)
- Liver(4.4)
- Lung(4.4)
- Muscle(2.4)
- Kidney(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GATAD2B Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- face
- head
- lip
- nose
- skull
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for GATAD2B
-
OriGene qPCR primer pairs and template standards for GATAD2B
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GATAD2B Gene
Orthologs for GATAD2B Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GATAD2B 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GATAD2B 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GATAD2B 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gatad2b 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gatad2b 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | GATAD2B 30 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GATAD2B 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GATAD2B 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486823 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gatad2b 30 |
|
||
| ndufa13 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | simj 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | dcp-66 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3981 30 |
|
- Species where no ortholog for GATAD2B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- 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)
Evolution for GATAD2B Gene
- ENSEMBL:
- Gene Tree for GATAD2B (if available)
- TreeFam:
- Gene Tree for GATAD2B (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GATAD2B: view image
Paralogs for GATAD2B Gene
Variants for GATAD2B Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GATAD2B Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638011 | Pathogenic: Mental retardation, autosomal dominant 18 | 153,828,162(-) | CT/C | FRAMESHIFT_VARIANT | |
| 638585 | Pathogenic: Mental retardation, autosomal dominant 18 | 153,818,098(-) | TTAGA/T | FRAMESHIFT_VARIANT | |
| 666293 | Likely Pathogenic: Mental retardation, autosomal dominant 18 | 153,818,790(-) | C/T | SPLICE_DONOR_VARIANT | |
| 713589 | Likely Benign: not provided | 153,810,279(-) | G/A | SYNONYMOUS_VARIANT | |
| 725557 | Benign: not provided | 153,817,420(-) | A/G | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3578196 | CNV | loss | 25503493 |
| esv3587594 | CNV | loss | 21293372 |
| esv3587595 | CNV | loss | 21293372 |
| esv3587596 | CNV | loss | 21293372 |
| nsv1078969 | CNV | deletion | 25765185 |
| nsv1120199 | CNV | tandem duplication | 24896259 |
| nsv1130976 | CNV | deletion | 24896259 |
| nsv476590 | CNV | novel sequence insertion | 20440878 |
| nsv547941 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
16.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.69;
32.20% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GATAD2B Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATAD2B Gene
Disorders for GATAD2B Gene
(3) MalaCards diseases for GATAD2B Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal dominant 18 |
|
|
| meninges sarcoma |
|
|
| koolen-de vries syndrome |
|
|
Search GATAD2B in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
P66B_HUMAN- Mental retardation, autosomal dominant 18 (MRD18) [MIM:615074]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD18 patients have severe intellectual disability and dysmorphic features. {ECO:0000269 PubMed:23033978, ECO:0000269 PubMed:23644463}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for GATAD2B
- Genetic Association Database
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No data available for Genatlas for GATAD2B Gene
Publications for GATAD2B Gene
- Identification and functional characterization of the p66/p68 components of the MeCP1 complex. (PMID: 11756549) Feng Q … Zhang Y (Molecular and cellular biology 2002) 2 3 4
- Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
- Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics. (PMID: 26030138) Nicolai S … Proietti-De-Santis L (PloS one 2015) 3 4
- GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. (PMID: 23644463) Willemsen MH … Kleefstra T (Journal of medical genetics 2013) 3 4
- Diagnostic exome sequencing in persons with severe intellectual disability. (PMID: 23033978) de Ligt J … Vissers LE (The New England journal of medicine 2012) 3 4
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