|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
55521
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Tripartite motif containing 36 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
TRIM36 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
ANPH, ANPH1, HAPRIN, RBCC728, RNF98 |
|
Chromosome
Chromosome number
|
5 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
5q22.3 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants |
| UniProt ID |
Q9NQ86
|
| Protein name |
E3 ubiquitin-protein ligase TRIM36 (EC 2.3.2.27) (RING finger protein 98) (RING-type E3 ubiquitin transferase TRIM36) (Tripartite motif-containing protein 36) (Zinc-binding protein Rbcc728) |
| Protein function |
E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Involved in chromosome segregation and cell cycle regulation (PubMed:28087737). May play a role in the acrosome reaction and fer |
| PDB |
7QS4
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF13445
|
zf-RING_UBOX |
33 → 86 |
RING-type zinc-finger |
Domain |
|
PF00643
|
zf-B_box |
207 → 249 |
B-box zinc finger |
Domain |
|
PF18568
|
COS |
359 → 408 |
TRIM C-terminal subgroup One Signature domain |
Domain |
|
PF00041
|
fn3 |
426 → 500 |
Fibronectin type III domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in testis, prostate and brain (PubMed:15145053). Weakly expressed in kidney, lung and heart (PubMed:15145053). Expressed in fetal tissues (PubMed:28087737). {ECO:0000269|PubMed:15145053, ECO:0000269|PubMed:28087737}. |
| Sequence |
|
| Sequence length |
728 |
| Interactions |
View interactions
|
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Anencephaly |
anencephaly |
rs773607884 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Epilepsy |
Epilepsy |
N/A |
N/A |
GWAS |
| Hypertension |
Essential hypertension (time to event), Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
| Uveal Melanoma |
Uveal melanoma |
N/A |
N/A |
GWAS |
|
|
|