Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
51320
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Mex-3 RNA binding family member C |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
MEX3C |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
BM-013, MEX-3C, RKHD2, RNF194 |
Chromosome
Chromosome number
|
18 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
18q21.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphi |
UniProt ID |
Q5U5Q3
|
Protein name |
RNA-binding E3 ubiquitin-protein ligase MEX3C (EC 2.3.2.27) (RING finger and KH domain-containing protein 2) (RING finger protein 194) (RING-type E3 ubiquitin transferase MEX3C) |
Protein function |
E3 ubiquitin ligase responsible for the post-transcriptional regulation of common HLA-A allotypes. Binds to the 3' UTR of HLA-A2 mRNA, and regulates its levels by promoting mRNA decay. RNA binding is sufficient to prevent translation, but ubiqui |
PDB |
5WWW
,
5WWX
,
5WWZ
,
5ZI6
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00013
|
KH_1 |
232 → 295 |
KH domain |
Domain |
PF00013
|
KH_1 |
328 → 389 |
KH domain |
Domain |
PF13920
|
zf-C3HC4_3 |
604 → 654 |
|
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Highest levels found in fetal brain and testis. Also expressed in thymus, salivary gland and uterus. Highly expressed in cells of the innate immune system, in particular activated NK cells. Week expression in the intestine. {ECO:000026 |
Sequence |
|
Sequence length |
659 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Arthritis |
Juvenile arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
19565504 |
Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 View all (6 more) |
30061737, 29892015 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
|
29892015, 30061737 |
ClinVar |
Atrial Fibrillation |
Atrial Fibrillation |
|
|
GWAS |
Hypertension |
Hypertension |
|
|
GWAS |
Insomnia |
Insomnia |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Carcinoma Hepatocellular |
Associate
|
37828435, 39488269 |
Chromosomal Instability |
Inhibit
|
23446422 |
Colorectal Neoplasms |
Associate
|
23446422 |
Myocardial Infarction |
Associate
|
31698570 |
Neoplasm Metastasis |
Stimulate
|
32862604 |
Osteosarcoma |
Associate
|
32862604 |
Ovarian Neoplasms |
Associate
|
33896797 |
Tachycardia Atrioventricular Nodal Reentry |
Stimulate
|
32862604 |
|