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
| D3DWI4
| Q0VAK8 | Regulator of nonsens |
Disease |
|---|
| Disease |
OMIM id |
| Mental retardation |
syndromic |
Phenotypes
"Intellectual disability, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal shape of the frontal region, 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, 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, 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 |
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