Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | EVC | contributors: npt/mct/pgu - updated : 24-09-2015 |
HGNC name | Ellis van Creveld syndrome |
HGNC id | 3497 |
|
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| |
| |
|
HOMOLOGY |
Homologene |
FAMILY |
CATEGORY | regulatory |
SUBCELLULAR LOCALIZATION | plasma membrane |
intracellular | |
intracellular,cytoplasm,cytoskeleton,microtubule | |
text |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | development |
text | skeletal muscle |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | EVC , WAD |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
|
|
|
|
ANIMAL & CELL MODELS |
growth plate of Evc(-/-) mice shows delayed bone collar formation and advanced maturation of chondrocytes |