Gene Gene information from NCBI Gene database.
Entrez ID 1122
Gene name CHM like Rab escort protein
Gene symbol CHML
Synonyms (NCBI Gene)
REP2
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]
miRNA miRNA information provided by mirtarbase database.
474
miRTarBase ID miRNA Experiments Reference
MIRT024645 hsa-miR-215-5p Microarray 19074876
MIRT026340 hsa-miR-192-5p Microarray 19074876
MIRT027563 hsa-miR-98-5p Microarray 19088304
MIRT027897 hsa-miR-96-5p Sequencing 20371350
MIRT456606 hsa-miR-3662 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0005092 Function GDP-dissociation inhibitor activity IEA
GO:0005096 Function GTPase activator activity IEA
GO:0005634 Component Nucleus IBA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
118825 1941 ENSG00000203668
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00996 GDI 5 81 GDP dissociation inhibitor Family
PF00996 GDI 209 547 GDP dissociation inhibitor Family
Sequence
Sequence length 656
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma BEFREE 18344558
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma LHGDN 18344558
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Biotinidase Deficiency Biotinidase Deficiency BEFREE 28653700
★☆☆☆☆
Found in Text Mining only
Blindness Blindness Pubtator 8294464 Associate
★☆☆☆☆
Found in Text Mining only
Choroideremia Choroideremia BEFREE 15186776, 30046058, 31762814, 7981670, 8188272, 8294464
★☆☆☆☆
Found in Text Mining only
Choroideremia Choroideremia Pubtator 8294464 Associate
★☆☆☆☆
Found in Text Mining only
Impaired cognition Impaired Cognition BEFREE 30046058
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 35184380 Stimulate
★☆☆☆☆
Found in Text Mining only
Muscular Atrophy Spinal Spinal muscular atrophy Pubtator 23299920 Associate
★☆☆☆☆
Found in Text Mining only
Retinal Degeneration Retinal degeneration Pubtator 8294464 Associate
★☆☆☆☆
Found in Text Mining only