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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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22978
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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5'-nucleotidase, cytosolic II |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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NT5C2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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GMP, NT5B, PNT5, SPG45, SPG65, cN-II |
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Chromosome
Chromosome number
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10 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q24.32-q24.33 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5`-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011] |
| UniProt ID |
P49902
|
| Protein name |
Cytosolic purine 5'-nucleotidase (EC 3.1.3.5) (EC 3.1.3.99) (Cytosolic 5'-nucleotidase II) (cN-II) (Cytosolic IMP/GMP-specific 5'-nucleotidase) (Cytosolic nucleoside phosphotransferase 5'N) (EC 2.7.1.77) (High Km 5'-nucleotidase) |
| Protein function |
Broad specificity cytosolic 5'-nucleotidase that catalyzes the dephosphorylation of 6-hydroxypurine nucleoside 5'-monophosphates (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705). In addition, possesses a phosphotransferase acti |
| PDB |
2J2C
,
2JC9
,
2JCM
,
2XCV
,
2XCW
,
2XCX
,
2XJB
,
2XJC
,
2XJD
,
2XJE
,
2XJF
,
4H4B
,
5CQZ
,
5CR7
,
5K7Y
,
5L4Z
,
5L50
,
5OPK
,
5OPL
,
5OPM
,
5OPN
,
5OPO
,
5OPP
,
6DD3
,
6DDB
,
6DDC
,
6DDH
,
6DDK
,
6DDL
,
6DDO
,
6DDQ
,
6DDX
,
6DDY
,
6DDZ
,
6DE0
,
6DE1
,
6DE2
,
6DE3
,
6FIR
,
6FIS
,
6FIU
,
6FIW
,
6FXH
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF05761
|
5_nucleotid |
35 → 489 |
|
Family |
|
| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9371705}. |
| Sequence |
|
| Sequence length |
561 |
| Interactions |
View interactions
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|
|
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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.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Cerebral Aneurysm |
Cerebral aneurysm |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes, Type 2 diabetes or schizophrenia (pleiotropy) |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension, Hypertension |
N/A |
N/A |
GWAS |
| Intracranial Aneurysm |
Intracranial aneurysm |
N/A |
N/A |
GWAS |
| Microcephaly |
microcephaly |
N/A |
N/A |
ClinVar |
| Myocardial Infarction |
Myocardial infarction |
N/A |
N/A |
GWAS |
| Neuroticism |
Neuroticism |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
| Uterine Fibroids |
Uterine fibroids |
N/A |
N/A |
GWAS |
|