Metazoan complexes |
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Details of IGBP1 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| IGBP1 | IBP1 | P78318 | IGBP1_HUMAN | 3476 | ENSG00000089289 | Immunoglobulin-binding protein 1 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Mental retardation, X-linked, syndromic, 28 (MRXS28) [MIM:300472]: A mental retardation syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this entry. | 300472 |
Phenotypes
Abnormal axial skeleton morphology, Abnormality of body height, Abnormality of facial skeleton, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the anterior segment of the eye, Abnormality of the central nervous system, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the cervical spine, Abnormality of the corpus callosum, Abnormality of the curvature of the vertebral column, Abnormality of the ear, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the head, Abnormality of the inner ear, Abnormality of the iris, Abnormality of the mandible, Abnormality of the mouth, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the outer ear, Abnormality of the palate, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the pinna, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the sternum, Abnormality of the thorax, Abnormality of the uvea, Abnormality of the vertebral column, Abnormality of vision, Abnormal location of ears, Agenesis of corpus callosum, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Broad neck, Cognitive impairment, Coloboma, Cupped ear, Downslanted palpebral fissures, Dysplastic corpus callosum, Functional abnormality of the inner ear, Gonosomal inheritance, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, High forehead, High palate, Hypodysplasia of the corpus callosum, Hypoplasia of the corpus callosum, Intellectual disability, Iris coloboma, Low-set ears, Macrocephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Narrow palate, Pectus excavatum, Phenotypic abnormality, Retrognathia, Scoliosis, Sensorineural hearing impairment, Short neck, Short stature, Slanting of the palpebral fissure, Visual impairment, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Igbp1 | Tap42 | ppfr-4 | Sp-Igbp1l |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
IGBP1 | PPP2R1B | 0.038741017 | IGBP1 | PPP2R1B | cpx24 | no | no | no | Novel |
PPP2CB | IGBP1 | 0.962551406 | PPP2CB | IGBP1 | cpx24 | no | yes | yes | Known |
PPP2R5D | IGBP1 | 0.047190352 | PPP2R5D | IGBP1 | cpx24 | no | no | no | Novel |
PPP2CA | IGBP1 | 0.927042327 | PPP2CA | IGBP1 | cpx24 | no | yes | yes | Known |