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Details of SNAP29 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SNAP29 | --- | O95721 | SNP29_HUMAN | 9342 | ENSG00000099940 | Synaptosomal-associated protein 29 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) [MIM:609528]: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609528 | ||||||||
Phenotypes
Abnormal axial skeleton morphology, Abnormal cortical gyration, Abnormal facial shape, Abnormality of body weight, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of muscle physiology, Abnormality of neuronal migration, Abnormality of skeletal morphology, Abnormality of skin morphology, Abnormality of skull size, Abnormality of the central nervous system, Abnormality of the cerebral cortex, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the ear, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the forebrain, Abnormality of the fundus, Abnormality of the head, Abnormality of the inner ear, Abnormality of the integument, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the optic nerve, Abnormality of the orbital region, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the peripheral nervous system, Abnormality of the posterior segment of the eye, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormal muscle tone, Age of onset, All, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia affecting the fundus, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the optic nerve, Areflexia, Autosomal recessive inheritance, Cognitive impairment, Cortical dysplasia, Decreased body weight, Downslanted palpebral fissures, Epidermal thickening, Failure to thrive, Functional abnormality of the inner ear, Generalized abnormality of skin, Global developmental delay, Growth abnormality, Hearing abnormality, Hearing impairment, Hyperkeratosis, Hypertelorism, Ichthyosiform abnormality of the skin, Infantile onset, Intellectual disability, Intellectual disability, progressive, Long face, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Muscular hypotonia, Onset, Onset and clinical course, Optic disc hypoplasia, Pachygyria, Palmoplantar keratoderma, Peripheral neuropathy, Phenotypic abnormality, Polyneuropathy, Poor head control, Progressive microcephaly, Reduced tendon reflexes, Sensorineural hearing impairment, Slanting of the palpebral fissure, Thickened skin.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Snap29 | usnp | snap-29 | Sp-Snap29 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SNAP29 | NAPA | 0.999999997 | SNAP29 | NAPA | cpx133; cpx134 | no | yes | no | Known |
| SNAP29 | STX7 | 1 | SNAP29 | STX7 | cpx134; cpx133 | no | yes | yes | Known |