| UniProt Protein Function: | EVC2: Positive regulator of the hedgehog signaling pathway. Plays a critical role in bone formation and skeletal development. Defects in EVC2 are a cause of Ellis-van Creveld syndrome (EVC); also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. Defects in EVC2 are a cause of acrofacial dysostosis Weyers type (WAD); also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome. 3 isoforms of the human protein are produced by alternative splicing.Protein type: Membrane protein, integralChromosomal Location of Human Ortholog: 4p16.2Cellular Component: cytoskeleton; cytoplasm; integral to membrane; nucleus; ciliumBiological Process: smoothened signaling pathwayDisease: Weyers Acrofacial Dysostosis; Ellis-van Creveld Syndrome |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q86UK5 |
| NCBI GenInfo Identifier: | 23510348 |
| NCBI Gene ID: | 51567 |
| NCBI Accession: | NP_057698 |
| UniProt Secondary Accession: | Q86UK5,Q2TBE2, Q5JYM0, Q7Z6U5, Q9NUK5, Q9NYY9, B4DKL8 B4DQ95 |
| UniProt Related Accession: | Q86UK5,O95551 |
| Molecular Weight: | 43.3 kDa (385aa) confirmed by MALDI-TOF |
| NCBI Full Name: | tyrosyl-DNA phosphodiesterase 2 |
| NCBI Synonym Full Names: | tyrosyl-DNA phosphodiesterase 2 |
| NCBI Official Symbol: | TDP2Â Â |
| NCBI Official Synonym Symbols: | EAP2; AD022; EAPII; TTRAP; hTDP2; dJ30M3.3Â Â |
| NCBI Protein Information: | tyrosyl-DNA phosphodiesterase 2 |
| UniProt Protein Name: | Limbin |
| UniProt Synonym Protein Names: | Ellis-van Creveld syndrome protein 2; EVC2 |
| Protein Family: | Limbin |
| UniProt Gene Name: | EVC2Â Â |
| UniProt Entry Name: | LBN_HUMAN |
