Description: Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. RefSeq Summary (NM_147127): This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. Transcript (Including UTRs) Position: hg19 chr4:5,564,146-5,710,294 Size: 146,149 Total Exon Count: 22 Strand: - Coding Region Position: hg19 chr4:5,564,575-5,710,240 Size: 145,666 Coding Exon Count: 22
ID:LBN_HUMAN DESCRIPTION: RecName: Full=Limbin; AltName: Full=Ellis-van Creveld syndrome protein 2; Short=EVC2; Flags: Precursor; FUNCTION: Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development. SUBUNIT: Interacts with EVC (By similarity). SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (By similarity). Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cell projection, cilium (By similarity). Cell projection, cilium membrane (By similarity). Nucleus (By similarity). TISSUE SPECIFICITY: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. DISEASE: Defects in EVC2 are a cause of Ellis-van Creveld syndrome (EVC) [MIM:225500]; 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. DISEASE: Defects in EVC2 are a cause of acrofacial dysostosis Weyers type (WAD) [MIM:193530]; 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. SEQUENCE CAUTION: Sequence=AAN86577.1; Type=Erroneous initiation; Sequence=AAN86578.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF12297 - Ellis van Creveld protein 2 like protein
ModBase Predicted Comparative 3D Structure on Q86UK5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
