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Details of SF3B4 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SF3B4 | SAP49 | Q15427 | SF3B4_HUMAN | 10262 | ENSG00000263977 ENSG00000143368 | Splicing factor 3B subunit 4 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Acrofacial dysostosis 1, Nager type (AFD1) [MIM:154400]: A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. Note=The disease is caused by mutations affecting the gene represented in this entry. | 154400 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Sf3b4 | Spx | sap-49 | Sp-Sf3B4 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SF3B14 | SF3B4 | 0.089881521 | SF3B14 | SF3B4 | cpx37 | yes | no | no | Known |
| SF3B4 | CCDC97 | 0.044390832 | SF3B4 | CCDC97 | cpx37 | no | no | no | Novel |
| SF3B4 | SF3B3 | 0.555187115 | SF3B4 | SF3B3 | cpx37 | yes | no | no | Known |
| SF3B1 | SF3B4 | 0.181606775 | SF3B1 | SF3B4 | cpx37 | yes | no | no | Known |
| PHF5A | SF3B4 | 0.098970521 | PHF5A | SF3B4 | cpx37 | yes | no | no | Known |
| SF3B4 | SF3B5 | 0.04644464 | SF3B4 | SF3B5 | cpx37 | yes | no | no | Known |