Aliases for GTF2IRD1 Gene
Aliases for GTF2IRD1 Gene
- GTF2I Repeat Domain Containing 1 2 3 5
- Williams-Beuren Syndrome Chromosomal Region 12 Protein 3 4
- Slow-Muscle-Fiber Enhancer-Binding Protein 3 4
- Binding Factor For Early Enhancer 2 3
- General Transcription Factor III 3 4
- USE B1-Binding Protein 3 4
- WBSCR11 3 4
- MUSTRD1 3 4
- WBSCR12 3 4
- CREAM1 3 4
- RBAP2 3 4
- GTF3 3 4
- General Transcription Factor II-I Repeat Domain-Containing Protein 1 3
- Muscle TFII-I Repeat Domain-Containing Protein 1 Alpha 1 3
- Williams-Beuren Syndrome Chromosomal Region 11 Protein 4
- Muscle TFII-I Repeat Domain-Containing Protein 1 4
- Williams-Beuren Syndrome Chromosome Region 11 3
- GTF2I Repeat Domain-Containing Protein 1 4
- GTF2I Repeat Domain-Containing 1 2
- General Transcription Factor 3 3
- HMusTRD1alpha1 3
- MusTRD1/BEN 4
- BEN 3
- WBS 3
External Ids for GTF2IRD1 Gene
- HGNC: 4661
- Entrez Gene: 9569
- Ensembl: ENSG00000006704
- OMIM: 604318
- UniProtKB: Q9UHL9
Previous HGNC Symbols for GTF2IRD1 Gene
- WBSCR11
Previous GeneCards Identifiers for GTF2IRD1 Gene
- GC07P072508
- GC07P073266
- GC07P073280
- GC07P073312
- GC07P073506
- GC07P073868
- GC07P069747
Summaries for GTF2IRD1 Gene
-
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
GeneCards Summary for GTF2IRD1 Gene
GTF2IRD1 (GTF2I Repeat Domain Containing 1) is a Protein Coding gene. Diseases associated with GTF2IRD1 include Williams-Beuren Syndrome and Tinea Cruris. Among its related pathways are Influenza A and RNA Polymerase II Transcription Initiation And Promoter Clearance. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is GTF2I.
UniProtKB/Swiss-Prot for GTF2IRD1 Gene
-
May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity).
Additional gene information for GTF2IRD1 Gene
- Monarch Initiative
- Search for GTF2IRD1 at DataMed
- Search for GTF2IRD1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2IRD1 Gene
Genomics for GTF2IRD1 Gene
GeneHancer (GH) Regulatory Elements for GTF2IRD1 Gene
Promoters and enhancers for GTF2IRD1 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 GTF2IRD1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GTF2IRD1 gene promoter:
-
- ZIC2
- Zic1
- Gfi-1
- NF-Y
- CBF(2)
Regulatory Element Products
Genomic Locations for GTF2IRD1 Gene
Genomic Locations for GTF2IRD1 Gene
- chr7:74,453,790-74,602,605
- (GRCh38/hg38)
- Size:
- 148,816 bases
- Orientation:
- Plus strand
- chr7:73,868,120-74,016,931
- (GRCh37/hg19)
- Size:
- 148,812 bases
- Orientation:
- Plus strand
Genomic View for GTF2IRD1 Gene
Genes around GTF2IRD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q11.23 by Entrez Gene
- 7q11.23 by HGNC
- 7q11.23 by Ensembl
GTF2IRD1 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 GTF2IRD1 Gene
Proteins for GTF2IRD1 Gene
-
Protein details for GTF2IRD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UHL9-GT2D1_HUMAN
- Recommended name:
- General transcription factor II-I repeat domain-containing protein 1
- Protein Accession:
- Q9UHL9
- O95444
- Q6DSU6
- Q75MX7
- Q86UM3
- Q8WVC4
- Q9UHK8
- Q9UI91
Protein attributes for GTF2IRD1 Gene
- Size:
- 959 amino acids
- Molecular mass:
- 106057 Da
- Quaternary structure:
-
- Interacts with the retinoblastoma protein (RB1) via its C-terminus.
Three dimensional structures from OCA and Proteopedia for GTF2IRD1 Gene
Protein Expression for GTF2IRD1 Gene
Post-translational modifications for GTF2IRD1 Gene
Other Protein References for GTF2IRD1 Gene
Antibody Products
- Novus Biologicals Antibodies for GTF2IRD1
-
Abcam antibodies for GTF2IRD1
- Invitrogen Antibodies for GTF2IRD1 (AFLGC-GTF2IRD1)
- GeneTex GTF2IRD1 Antibody for GTF2IRD1
-
Boster Bio Antibodies for GTF2IRD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for GTF2IRD1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for GTF2IRD1
- Origene Custom Protein Services for GTF2IRD1
- Search GeneTex for Proteins for GTF2IRD1
-
Abcam proteins for GTF2IRD1
Assay Products
No data available for DME Specific Peptides for GTF2IRD1 Gene
Domains & Families for GTF2IRD1 Gene
Gene Families for GTF2IRD1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for GTF2IRD1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for GTF2IRD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UHL9UniProtKB/Swiss-Prot:
GT2D1_HUMAN :- The N-terminal half may have an activating activity.
- Belongs to the TFII-I family.
- Domain:
-
- The N-terminal half may have an activating activity.
- Family:
-
- Belongs to the TFII-I family.
Function for GTF2IRD1 Gene
Molecular function for GTF2IRD1 Gene
- UniProtKB/Swiss-Prot Function:
- May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity).
- GENATLAS Biochemistry:
- GTF2I repeat domain-containing protein 1,comprising a long and a short isoforms,predominantly expressed in skeletal muscle and more in fetal than in adult,highly homolog to mus TRD1,that binds to an enhancer involved in the regulation of muscle expression. Also highly homolog and tightly linked to GTF2I. Located in the WBSCR and deleted in the syndrome
Phenotypes From GWAS Catalog for GTF2IRD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | IBA | -- |
| GO:0003677 | DNA binding | IBA,IEA | -- |
| GO:0003700 | DNA binding transcription factor activity | NAS,IEA | 10575229 |
| GO:0003705 | transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding | NAS | 9774679 |
| GO:0005515 | protein binding | IPI | 26275350 |
Phenotypes for GTF2IRD1 Gene
- MGI mutant phenotypes for GTF2IRD1:
-
inferred from 6 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- pigmentation phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- neoplasm
- integument phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- skeleton phenotype
- embryo phenotype
- adipose tissue phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for GTF2IRD1:
Animal Models for GTF2IRD1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for GTF2IRD1
-
CRISPR Products
-
OriGene CRISPR knockouts for GTF2IRD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GTF2IRD1
- genomics-online: gRNA clones - Search results for 188 available GTF2IRD1 gene related products
- Overview of 188 available GTF2IRD1 gene related products
- Applied Biological Materials CRISPR for GTF2IRD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GTF2IRD1
- GenScript: Design CRISPR guide RNA sequences for GTF2IRD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GTF2IRD1
- Browse OriGene Inhibitory RNA Products For GTF2IRD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2IRD1
- genomics-online: shRNA clones - Search results for 188 available GTF2IRD1 gene related products
- Overview of 188 available GTF2IRD1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for GTF2IRD1
- Addgene plasmids for GTF2IRD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTF2IRD1
- Applied Biological Materials Clones for GTF2IRD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for GTF2IRD1
No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for GTF2IRD1 Gene
Localization for GTF2IRD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GTF2IRD1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 1 |
- Nucleoplasm (3)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,NAS | 11438732 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for GTF2IRD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RNA Polymerase II Transcription Initiation And Promoter Clearance | ||
| 2 | Vascular smooth muscle contraction | ||
| 3 | Influenza A | ||
Pathways by source for GTF2IRD1 Gene
3 KEGG pathways for GTF2IRD1 Gene
Interacting Proteins for GTF2IRD1 Gene
Selected Interacting proteins:
ENSP00000397566
Q9UHL9-GT2D1_HUMAN
for GTF2IRD1 Gene via
STRING
IID
UniProtKB
GPS-Prot Interaction Network for GTF2IRD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | NAS,IEA | 10575229 |
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0006366 | transcription by RNA polymerase II | IEA | -- |
| GO:0007275 | multicellular organism development | IBA | -- |
No data available for SIGNOR curated interactions for GTF2IRD1 Gene
Transcripts for GTF2IRD1 Gene
mRNA/cDNA for GTF2IRD1 Gene
- (10) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (144) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000265755 3430 bps (uc032zrx.2)
- ENST00000455841 3315 bps (uc032zrv.2)
- ENST00000424337 3077 bps (uc032zrw.2)
- ENST00000476977 5868 bps (uc003uar.1)
- ENST00000489094 2274 bps (uc064ejt.1)
Unigene Clusters for GTF2IRD1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for GTF2IRD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GTF2IRD1
- genomics-online: gRNA clones - Search results for 188 available GTF2IRD1 gene related products
- Overview of 188 available GTF2IRD1 gene related products
- Applied Biological Materials CRISPR for GTF2IRD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GTF2IRD1
- GenScript: Design CRISPR guide RNA sequences for GTF2IRD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GTF2IRD1
- Browse OriGene Inhibitory RNA Products For GTF2IRD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2IRD1
- genomics-online: shRNA clones - Search results for 188 available GTF2IRD1 gene related products
- Overview of 188 available GTF2IRD1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for GTF2IRD1
- Addgene plasmids for GTF2IRD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTF2IRD1
- Applied Biological Materials Clones for GTF2IRD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||
| SP2: | |||||||||||||||||
| SP3: | |||||||||||||||||
| SP4: | |||||||||||||||||
| SP5: | |||||||||||||||||
| SP6: | |||||||||||||||||
| SP7: | |||||||||||||||||
| SP8: | |||||||||||||||||
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| SP11: | |||||||||||||||||
| SP12: |
Expression for GTF2IRD1 Gene
mRNA differential expression in normal tissues according to GTEx for GTF2IRD1 Gene
This gene is overexpressed in Muscle - Skeletal (x6.0).
This gene is overexpressed in Neutrophil (34.0), Adipocyte (25.9), and Peripheral blood mononuclear cells (9.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTF2IRD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of GTF2IRD1 Gene:
GTF2IRD1SOURCE GeneReport for Unigene cluster for GTF2IRD1 Gene:
Hs.647056mRNA Expression by UniProt/SwissProt for GTF2IRD1 Gene:
Q9UHL9-GT2D1_HUMAN
Tissue specificity:
Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.
Evidence on tissue expression from TISSUES for GTF2IRD1 Gene
- Muscle(4.4)
- Nervous system(4.4)
- Spleen(4)
- Skin(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GTF2IRD1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- skull
- tongue
- tooth
- vocal cord
Thorax:
- aorta
- chest wall
- clavicle
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- duodenum
- intestine
- kidney
- large intestine
- pancreas
- small intestine
- stomach
Pelvis:
- anus
- pelvis
- rectum
- ureter
- urethra
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for GTF2IRD1
-
OriGene qPCR primer pairs and template standards for GTF2IRD1
- genomics-online: primer clones - Search results for 188 available GTF2IRD1 gene related products
- Overview of 188 available GTF2IRD1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GTF2IRD1 Gene
Orthologs for GTF2IRD1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GTF2IRD1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GTF2IRD1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GTF2IRD1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gtf2ird1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gtf2ird1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GTF2IRD1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GTF2IRD1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GTF2IRD1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gtf2ird1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | WBSCR11 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gtf2ird1 34 33 |
|
OneToMany | |
| Dr.28012 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10063 33 |
|
- Species where no ortholog for GTF2IRD1 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)
- fruit fly (Drosophila melanogaster)
- 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 GTF2IRD1 Gene
- ENSEMBL:
- Gene Tree for GTF2IRD1 (if available)
- TreeFam:
- Gene Tree for GTF2IRD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GTF2IRD1: view image
Paralogs for GTF2IRD1 Gene
(4) SIMAP similar genes for GTF2IRD1 Gene using alignment to 4 proteins:
- GT2D1_HUMAN
- E9PFE2_HUMAN
- H7C4Q8_HUMAN
- Q75MX6_HUMAN
Pseudogenes.org Pseudogenes for GTF2IRD1 Gene
Variants for GTF2IRD1 Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs863223350 | likely-pathogenic, Childhood-Onset Schizophrenia | 74,521,264(+) | C/A/T | coding_sequence_variant, missense_variant | |
| rs1000012134 | -- | 74,533,727(+) | A/G | intron_variant | |
| rs1000089484 | -- | 74,456,554(+) | G/A/C | intron_variant | |
| rs1000167924 | -- | 74,501,057(+) | G/A | intron_variant | |
| rs1000189785 | -- | 74,462,680(+) | C/T | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2669330 | CNV | deletion | 23128226 |
| esv33268 | CNV | gain | 17666407 |
| esv3363878 | CNV | duplication | 20981092 |
| esv3613708 | CNV | loss | 21293372 |
| esv3613710 | CNV | loss | 21293372 |
| esv3613711 | CNV | loss | 21293372 |
| esv3613712 | CNV | loss | 21293372 |
| esv3613713 | CNV | loss | 21293372 |
| esv3613714 | CNV | loss | 21293372 |
| nsv1076927 | CNV | deletion | 25765185 |
| nsv1137255 | CNV | deletion | 24896259 |
| nsv1137256 | CNV | deletion | 24896259 |
| nsv1145143 | CNV | deletion | 24896259 |
| nsv476326 | CNV | novel sequence insertion | 20440878 |
| nsv831032 | CNV | loss | 17160897 |
| nsv831033 | CNV | loss | 17160897 |
| nsv966848 | CNV | duplication | 23825009 |
| nsv981527 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
5.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.18;
39.47% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GTF2IRD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2IRD1 Gene
Disorders for GTF2IRD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| williams-beuren syndrome |
|
|
| tinea cruris |
|
|
| chromosomal deletion syndrome |
|
|
| cutaneous candidiasis |
|
|
| branchiooculofacial syndrome |
|
|
Search GTF2IRD1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GT2D1_HUMAN- Note=GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Additional Disease Information for GTF2IRD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for GTF2IRD1 Gene
Publications for GTF2IRD1 Gene
- Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. (PMID: 10198167) Osborne LR … Tsui LC (Genomics 1999) 2 3 4 22 58
- Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1. (PMID: 9774679) O'Mahoney JV … Hardeman EC (Molecular and cellular biology 1998) 2 3 4 22 58
- Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I. (PMID: 10642537) Yan X … Zhu X (The Biochemical journal 2000) 3 4 22 58
- A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. (PMID: 10573005) Tassabehji M … Metcalfe K (European journal of human genetics : EJHG 1999) 3 4 22 58
- Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. (PMID: 10575229) Franke Y … Francke U (Cytogenetics and cell genetics 1999) 3 4 22 58
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