Gene Gene information from NCBI Gene database.
Entrez ID 388591
Gene name Ring finger protein 207
Gene symbol RNF207
Synonyms (NCBI Gene)
C1orf188
Chromosome 1
Chromosome location 1p36.31
miRNA miRNA information provided by mirtarbase database.
462
miRTarBase ID miRNA Experiments Reference
MIRT692171 hsa-miR-548c-3p HITS-CLIP 23313552
MIRT692170 hsa-miR-6771-3p HITS-CLIP 23313552
MIRT692169 hsa-miR-4781-5p HITS-CLIP 23313552
MIRT692168 hsa-miR-3675-3p HITS-CLIP 23313552
MIRT692167 hsa-miR-3613-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25281747
GO:0005737 Component Cytoplasm IEA
GO:0008270 Function Zinc ion binding IEA
GO:0010628 Process Positive regulation of gene expression IMP 25281747
GO:0030544 Function Hsp70 protein binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616923 32947 ENSG00000158286
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZRF8
Protein name RING finger protein 207
Protein function Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner. {E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00097 zf-C3HC4 25 63 Zinc finger, C3HC4 type (RING finger) Domain
PF00643 zf-B_box 93 145 B-box zinc finger Domain
Sequence
MSGAIFGPLEGPSSLDAPSIHPLVCPLCHVQYERPCLLDCFHDFCAGCLRGRATDGRLTC
PLC
QHQTVLKGPSGLPPVDRLLQFLVDSSGDGVEAVRCANCDLECSEQDVETTYFCNTCG
QPLCARCRDETHRARMFARHDIVAL
GQRSRDVPQKCTLHAEPYLLFSTDKKLLLCIRCFR
DMQKESRAHCVDLESAYVQGCERLEQAVLAVKALQTATREAIALLQAMVEEVRHSAAEEE
DAIHALFGSMQDRLAERKALLLQAVQSQYEEKDKAFKEQLSHLATLLPTLQVHLVICSSF
LSLANKAEFLDLGYELMERLQGIVTRPHHLRPIQSSKIASDHRAEFARCLEPLLLLGPRR
VAAAASGANTLAGGLGPKALTGPHCPSPVGKMSGSPVQKPTLHRSISTKVLLAEGENTPF
AEHCRHYEDSYRHLQAEMQSLKDQVQELHRDLTKHHSLIKAEIMGDVLHKSLQLDVQIAS
EHASLEGMRVVFQEIWEEAYQRVANEQEIYEAQLHDLLQLRQENAYLTTITKQITPYVRS
IAKVKERLEPRFQAPVDEQSESLQNTHDDSRNNAASARNNPGSVPEKREKTSEPKGNSWA
PNGLSEEPLLKNMDHHRSKQKNGGDVPTWREHPT
Sequence length 634
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Long QT syndrome Likely pathogenic rs552508881 RCV000991411
★★★★☆
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY GWAS catalog
★★☆☆☆
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
Long QT Syndrome Long QT Syndrome BEFREE 30542207
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT Syndrome Long qt syndrome Pubtator 34634443 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostatic Neoplasms Prostatic neoplasm Pubtator 37143720 Associate
★☆☆☆☆
Found in Text Mining only