Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2762
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
GDP-mannose 4,6-dehydratase |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
GMDS |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
GMD, SDR3E1 |
Chromosome
Chromosome number
|
6 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6p25.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are c |
UniProt ID |
O60547
|
Protein name |
GDP-mannose 4,6 dehydratase (EC 4.2.1.47) (GDP-D-mannose dehydratase) (GMD) |
Protein function |
Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose. |
PDB |
1T2A
,
5IN4
,
5IN5
,
6GPJ
,
6GPK
,
6GPL
,
6Q94
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF16363
|
GDP_Man_Dehyd |
27 → 358 |
GDP-mannose 4,6 dehydratase |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in pancreas and small intestine. Expressed in thymus, protstate, colon, heart, placenta, liver and kidney. Expressed at low levels in spleen, testis, brain and lung. {ECO:0000269|PubMed:9525924}. |
Sequence |
|
Sequence length |
372 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Glaucoma |
Glaucoma, Open-Angle |
rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 View all (29 more) |
25173105, 29891935 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Coronary artery disease |
Coronary artery disease |
|
|
GWAS |
Hypertension |
Hypertension |
|
|
GWAS |
Gout |
Gout |
|
|
GWAS |
Myocardial Infarction |
Myocardial Infarction |
|
|
GWAS |
Prostate cancer |
Prostate cancer |
Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. |
|
GWAS, CBGDA |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
|
GWAS, CBGDA |
Diabetes |
Diabetes |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Calcinosis Cutis |
Associate
|
23922970 |
Carcinoma Hepatocellular |
Associate
|
31423008 |
Colorectal Neoplasms |
Associate
|
23922970 |
Congenital disorder of glycosylation type 2C |
Associate
|
9662431 |
Diabetic Nephropathies |
Inhibit
|
37916327 |
Glaucoma Open Angle |
Associate
|
25173105 |
Intestinal Neoplasms |
Associate
|
30072579 |
Neoplasm Metastasis |
Associate
|
31423008 |
Neoplasms |
Associate
|
23922970 |
Pseudomyxoma Peritonei |
Associate
|
30072579 |
|