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Details of IFT80 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| IFT80 | KIAA1374,WDR56 | Q9P2H3 | IFT80_HUMAN | 57560 | ENSG00000068885 | Intraflagellar transport protein 80 homolog | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Asphyxiating thoracic dystrophy 2 (ATD2) [MIM:611263]: An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. Note=The disease is caused by mutations affecting the gene represented in this entry. | 611263 | ||||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormality of finger, Abnormality of limb bone morphology, Abnormality of phalanx of finger, Abnormality of skeletal morphology, Abnormality of the 5th finger, Abnormality of the digits, Abnormality of the foot, Abnormality of the hand, Abnormality of the lower limb, Abnormality of the metacarpal bones, Abnormality of the palm, Abnormality of the skeletal system, Abnormality of the thorax, Abnormality of the upper limb, All, Aplasia/Hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the extremities, Autosomal recessive inheritance, Brachydactyly syndrome, Broad palm, Duplication of bones involving the upper extremities, Duplication of hand bones, Duplication of phalanx of hand, Hypoplasia involving bones of the extremities, Mesomelia, Mode of inheritance, Narrow chest, Phenotypic abnormality, Polydactyly, Polydactyly (hands), Postaxial polydactyly, Postaxial polydactyly (hands), Short digit, Short metacarpal, Thoracic hypoplasia.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Ift80 | Oseg5 | che-2 | Sp-Ift80L1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| IFT80 | IFT52 | 0.207522185 | IFT80 | IFT52 | cpx429 | no | no | no | Novel |
| IFT88 | IFT80 | 0.308767626 | IFT88 | IFT80 | cpx429 | no | yes | no | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|