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Details of RBM28 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| RBM28 | --- | Q9NW13 | RBM28_HUMAN | 55131 | ENSG00000106344 | RNA-binding protein 28 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) [MIM:612079]: Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. Note=The disease is caused by mutations affecting the gene represented in this entry. | 612079 | ||||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormality of adipose tissue, Abnormality of adrenal physiology, Abnormality of connective tissue, Abnormality of dental structure, Abnormality of genital physiology, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of muscle morphology, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of skull size, Abnormality of subcutaneous fat tissue, Abnormality of the adrenal glands, Abnormality of the breast, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the curvature of the vertebral column, Abnormality of the endocrine system, Abnormality of the face, Abnormality of the forebrain, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the hand, Abnormality of the head, Abnormality of the integument, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the oral cavity, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the teeth, Abnormality of the upper limb, Abnormality of the vertebral column, Abnormal joint morphology, Abnormal number of teeth, Adrenal insufficiency, All, Alopecia, Amyotrophy, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Autosomal recessive inheritance, Carious teeth, Cognitive impairment, Decreased subcutaneous fat, Delayed puberty, Deviation of the hand or of fingers of the hand, Flexion contracture, Generalized abnormality of skin, Growth abnormality, Growth delay, Gynecomastia, Hyperpigmentation of the skin, Hypodontia, Hypogonadism, Intellectual disability, Kyphoscoliosis, Kyphosis, Localized skin lesion, Mental deterioration, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Motor deterioration, Nevus, Phenotypic abnormality, Pigmented nevi, Puberty and gonadal disorders, Reduced number of teeth, Scoliosis, Sparse or absent hair, Ulnar deviation of the hand or of fingers of the hand.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Rbm28 | CG4806 | rbm-28 | Sp-Rbm28 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| RBM28 | NOP2 | 0.688640475 | RBM28 | NOP2 | cpx4 | no | yes | yes | Known |
| RBM28 | PES1 | 0.454661788 | RBM28 | PES1 | cpx4 | no | yes | yes | Known |
| DDX18 | RBM28 | 0.960042576 | DDX18 | RBM28 | cpx4 | no | yes | yes | Known |
| NIP7 | RBM28 | 0.511989864 | NIP7 | RBM28 | cpx197 | no | yes | yes | Known |
| RRP15 | RBM28 | 0.309161999 | RRP15 | RBM28 | cpx197 | no | no | no | Novel |
| RBM28 | TOP1 | 0.38392018 | RBM28 | TOP1 | cpx197 | yes | yes | no | Known |