HELZ (helicase with zinc finger)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 9931 |
| Gene name | Helicase with zinc finger |
| Gene symbol | HELZ |
| Synonyms (NCBI Gene) |
DHRCDRHCHUMORF5
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| Chromosome | 17 |
| Chromosome location | 17q24.2 |
| Summary | HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et a |
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SNPs
SNP information provided by dbSNP.
1
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miRNA
miRNA information provided by mirtarbase database.
961
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P42694 | |||||||||||||||||||||||||
| Protein name | Probable helicase with zinc finger domain (EC 3.6.4.-) (Down-regulated in human cancers protein) | |||||||||||||||||||||||||
| Protein function | May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo. | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed predominantly in thymus and brain. Expression is down-regulated in 28 of 95 tested cancer cell lines. {ECO:0000269|PubMed:12691822}. | |||||||||||||||||||||||||
| Sequence |
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| Sequence length | 1942 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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