Metazoan complexes |
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Emili & Marcotte labs |
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Details of SH3PXD2B gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| SH3PXD2B | FAD49,KIAA1295,TKS4 | A1X283 | SPD2B_HUMAN | 285590 | ENSG00000174705 | SH3 and PX domain-containing protein 2B | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Frank-Ter Haar syndrome (FTHS) [MIM:249420]: A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. Note=The disease is caused by mutations affecting the gene represented in this entry. | 249420 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Sh3pxd2b | --- | --- | Sp-Sh3pxd2a |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
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