CHML (CHM like Rab escort protein)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 1122 |
| Gene name | CHM like Rab escort protein |
| Gene symbol | CHML |
| Synonyms (NCBI Gene) |
REP2
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| Chromosome | 1 |
| Chromosome location | 1q43 |
| Summary | The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008] |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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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P26374 | |||||||||||||||
| Protein name | Rab proteins geranylgeranyltransferase component A 2 (Choroideremia-like protein) (Rab escort protein 2) (REP-2) | |||||||||||||||
| Protein function | Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by trans | |||||||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 656 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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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Related Genes
Genes most often co-reported with CHML across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to CHML (see Related Genes above), that are NOT already directly curated for CHML itself -- a lead worth checking, not a confirmed association.
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