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Details of CNBP gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| CNBP | RNF163,ZNF9 | P62633 | CNBP_HUMAN | 7555 | ENSG00000169714 | Cellular nucleic acid-binding protein | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Dystrophia myotonica 2 (DM2) [MIM:602668]: A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases. Note=The disease is caused by mutations affecting the gene represented in this entry. The causative mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene. | 602668 | ||||||||
Phenotypes
Abnormal glucose homeostasis, Abnormal hair pattern, Abnormal immunoglobulin level, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of blood and blood-forming tissues, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of cardiovascular system physiology, Abnormality of cellular immune system, Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of genital physiology, Abnormality of head and neck, Abnormality of humoral immunity, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of lymphocytes, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skin adnexa, Abnormality of the anterior pituitary, Abnormality of the anterior segment of the eye, Abnormality of the cardiovascular system, Abnormality of the endocrine system, Abnormality of the eye, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the hypothalamus-pituitary axis, Abnormality of the immune system, Abnormality of the integument, Abnormality of the lens, Abnormality of the musculature, Abnormality of the musculature of the neck, Abnormality of the neck, Abnormality of the nervous system, Acquired abnormal hair pattern, All, Arrhythmia, Autosomal dominant inheritance, Cataract, Dystonia, Elevated follicle stimulating hormone, Elevated serum creatine phosphokinase, Frontal balding, Functional abnormality of male internal genitalia, Gonadotropin excess, Hyperpituitarism, Hypogammaglobulinemia, Hypogonadism, IgG deficiency, Insulin insensitivity, Iridescent posterior subcapsular cataract, Mode of inheritance, Muscle fiber atrophy, Muscle weakness, Myalgia, Myotonia, Neck flexor weakness, Neck muscle weakness, Oligospermia, Onset, Onset and clinical course, Palpitations, Phenotypic abnormality, Polar cataract, Posterior subcapsular cataract, Proximal muscle weakness, Puberty and gonadal disorders, Subcapsular cataract, Tachycardia, Type 2 muscle fiber atrophy.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Cnbp | FBgn0034802 | K08D12.3 | SPU_027940 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| NMD3 | CNBP | 0.177120997 | NMD3 | CNBP | cpx121 | no | yes | no | Known |
| CNBP | TTC27 | 0.029608655 | CNBP | TTC27 | cpx121 | no | no | no | Novel |