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Details of UPF3B gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| UPF3B | RENT3B,UPF3X | Q9BZI7 | REN3B_HUMAN | 65109 | ENSG00000125351 | Regulator of nonsense transcripts 3B | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Mental retardation, X-linked, syndromic, 14 (MRXS14) [MIM:300676]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXS14 patients manifest mental retardation associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities. Note=The disease is caused by mutations affecting the gene represented in this entry. | 300676 | ||||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormality of calvarial morphology, Abnormality of facial skeleton, Abnormality of finger, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the face, Abnormality of the foot, Abnormality of the forehead, Abnormality of the hand, Abnormality of the head, Abnormality of the larynx, Abnormality of the lower limb, Abnormality of the maxilla, Abnormality of the midface, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the oral cavity, Abnormality of the palate, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the sternum, Abnormality of the thorax, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the vertebral column, Abnormality of the voice, Abnormality of toe, Abnormal shape of the frontal region, All, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the maxilla, Arachnodactyly, Cognitive impairment, Frontal bossing, Gonosomal inheritance, Growth abnormality, High palate, Hypoplasia of the maxilla, Intellectual disability, Intellectual disability, progressive, Kyphosis, Long fingers, Long toe, Macrocephaly, Mode of inheritance, Narrow chest, Narrow palate, Nasal speech, Pectus carinatum, Pectus excavatum, Phenotypic abnormality, Scoliosis, Slender finger, Thoracic hypoplasia, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Upf3b | Upf3 | smg-4 | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| UPF2 | UPF3B | 1 | UPF2 | UPF3B | cpx545 | yes | yes | yes | Known |