CHDGene:ENSG00000164093
From CHDWiki
PITX2
[edit] Synopsis
PITX2 encodes a protein involved in left-right axis determination and asymmetric organ morphology. PITX2 mutations have been described in patients with Axenfeld-Rieger syndrome. The phenotypic spectrum of PITX2 and FOXC1 mutations in Axenfeld-Rieger syndrome, have been recently reviewed by Tümer et al., 2009.
External references for PITX2
ensembl: ENSG00000164093
OMIM: 601542
Search miRBase for PITX2
Expression patterns from 4DXPress: PITX2
MGI: MGI:109340
ZFIN: ZDB-GENE-990714-27
Wikipedia: PITX2
Search Wikiproteins: PITX2
Search Genetic Association Database: PITX2
Search GeneTests: PITX2
CHeartED:
Known phenotypes for PITX2
Non-syndromic
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Syndromic
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Protein interaction partners
Patients reports for PITX2
Translocations
| Region | References | OMIM | Comments |
|---|
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Mutations in PITX2
| Mutation (DNA) | Mutation (peptide) | CHD | Reference | Other features | Inheritence | Additional info. |
Representation of protein PITX2
Heart expression domain of PITX2
No specified expression domain for PITX2
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Associated CHDs found by automated text mining
AGeneApart Method
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Heart defects
This page contributors
- Jeroen Breckpot - CME Leuven (Belgium) (Free text)
