Details of BRWD3 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| BRWD3 | --- | Q6RI45 | BRWD3_HUMAN | 254065 | ENSG00000165288 | Bromodomain and WD repeat-containing protein 3 | SPROT |
Disease |
Disease |
OMIM id |
Note=A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B- CLL). Translocation t(X11)(q21q23) with ARHGAP20 does not result in fusion transcripts but disrupts both genes. |
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Mental retardation, X-linked 93 (MRX93) [MIM:300659]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX93 is associated with macrocephaly. Note=The disease is caused by mutations affecting the gene represented in this entry. |
300659 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal external genitalia, Abnormal facial shape, Abnormal internal genitalia, Abnormality of calvarial morphology, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the ear, Abnormality of the face, Abnormality of the foot, Abnormality of the forehead, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the lower limb, Abnormality of the male genitalia, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the outer ear, Abnormality of the pinna, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the testis, Abnormal muscle tone, Abnormal shape of the frontal region, All, Cognitive impairment, Cryptorchidism, Cupped ear, Frontal bossing, Intellectual disability, Intellectual disability, mild, Long face, Macrocephaly, Macrotia, Muscular hypotonia, Pes planus, Phenotypic abnormality.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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