Free for academic non-profit institutions. Other users need a Commercial license
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]
GTF2IRD1 (GTF2I Repeat Domain Containing 1) is a Protein Coding gene. Diseases associated with GTF2IRD1 include Williams-Beuren Syndrome and Retinoblastoma. Among its related pathways are cGMP-PKG signaling pathway 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | NAS | 9774679 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA,NAS | 10575229 |
GO:0005515 | protein binding | IPI | 26275350 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | NAS | 11438732 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RNA Polymerase II Transcription Initiation And Promoter Clearance | ||
2 | cGMP-PKG signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA,NAS | 10575229 |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0014886 | transition between slow and fast fiber | IEA | -- |
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: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | |||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: | |||||||||||||||||
SP11: | |||||||||||||||||
SP12: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GTF2IRD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GTF2IRD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GTF2IRD1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gtf2ird1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gtf2ird1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | GTF2IRD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GTF2IRD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GTF2IRD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gtf2ird1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | WBSCR11 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gtf2ird1 30 31 |
|
OneToMany | |
Dr.28012 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10063 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709127 | Benign: not provided | 74,521,257(+) | C/T | SYNONYMOUS_VARIANT | |
709128 | Benign: not provided | 74,555,466(+) | C/T | SYNONYMOUS_VARIANT | |
711001 | Benign: not provided | 74,518,167(+) | G/A | SYNONYMOUS_VARIANT | |
711039 | Benign: not provided | 74,519,691(+) | C/T | SYNONYMOUS_VARIANT | |
713825 | Benign: not provided | 74,544,795(+) | C/T | SYNONYMOUS_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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
williams-beuren syndrome |
|
|
retinoblastoma |
|
|
chromosomal deletion syndrome |
|
|
supravalvular aortic stenosis |
|
|
tinea cruris |
|
|