R3HCC1L (R3H domain and coiled-coil containing 1 like)

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Gene Gene information from NCBI Gene database.
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Entrez ID 27291
Gene name R3H domain and coiled-coil containing 1 like
Gene symbol R3HCC1L
Synonyms (NCBI Gene)
C10orf28GIDRP86GIDRP88PSORT
Chromosome 10
Chromosome location 10q24.2
miRNA miRNA information provided by mirtarbase database.
1
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miRTarBase ID miRNA Experiments Reference
MIRT045820 hsa-miR-152-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0035145 Component Exon-exon junction complex IDA 20930030
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
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.
Q7Z5L2
Protein name Coiled-coil domain-containing protein R3HCC1L (Growth inhibition and differentiation-related protein 88) (Putative mitochondrial space protein 32.1) (R3H and coiled-coil domain-containing protein 1-like)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in placenta.
Sequence 
MQQESERCRVRARRPDMALYVPKARRGAVLLKTGDEEESCGSPNSVVKEKQKESSLSQKE
VFKDKPEARRLNINPDRKEHNCREEKKSSTKLRMDTCLQKTNRVCSKRGTTESKEVLSQG
QQQGAPNAGVITNAPLQRHFKPKKVECLEVETTDVTGHERILLSQACLEISEAQVPSKPF
QNVEFCDFSRHEPDGEAFEDKDLEGRIETDTKVLEILYEFPRVFSSVMKPENMIVPIKLS
SDSEIVQQSMQTSDGILNPSSGGITTTSVPGSPDGVFDQTCVDFEVESVGGIANSTGFIL
DQKDTDSIPATMGHISLSESTNDTVSPVMIRECEKNDSTADELHVKHEPPDTAVLAHETH
RDSGFKNVGDITNKACMMDTTGMSCSDHVTVDSPYVVAVRIADETSINTRSFSKFVGMSA
DATPLHVARSGNDTEDFSNPSACSDIYGESISSHFTESTGKLIESLSDCASSLPIKKIAG
SNYNTFLDSELSMLNGTKVLSDSAVGIDLGSTGDTTEALHELRTAEEFKTEEQDDSGSIE
FGVSFPDRESSSMETSIEPKATETSHTEGITAIEESWESMFNDDGDCLDPRLLQEGILMH
IKPENHCSKLSGNTKSRESIQEPRSDYYNHEVPDIDLSDCEFPHVIEIYDFPQEFHTEDL
LRVFCSYQKKGFDIKWVDDTHALGVFSSPITARDALGIKHTMVKIRPLSQATRAAKAKAR
AYAEFLQPAKERPETSAALARRLVISALGVRSKQSKTEREAELKKLQEARERKRLEAKQR
EDIWEGRDQSTV
Sequence length 792
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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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)
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.
Show/Hide Unknown Diseases (15)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATOPIC ECZEMA — GWAS catalog 25574825
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME — GWAS catalog 34594039, 35332129
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 35915156, 36474045
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE — GWAS catalog 39024449
★★★★★
★★☆☆☆
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
Cystic Fibrosis Cystic fibrosis Pubtator 33357513 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Psoriasis Psoriasis BEFREE 30030151
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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CRTAC1 3 shared diseasesDigestive system disease, Dry eye syndrome, Dyslexia 3 shared evidence sourcesGWAS catalog (Digestive system disease), GWAS catalog (Dry eye syndrome), GWAS catalog (Dyslexia) Related via 3 shared diseases including Digestive system disease, Dry eye syndrome — evidence mostly GWAS catalog. RC3H1 2 shared diseasesDyslexia, Willis-ekbom disease 2 shared evidence sourcesGWAS catalog (Dyslexia), GWAS catalog (Willis-ekbom disease) Related via 2 shared diseases including Dyslexia, Willis-ekbom disease — evidence mostly GWAS catalog. CHST8 2 shared diseasesDyslexia, Inflammatory skin disease 2 shared evidence sourcesGWAS catalog (Dyslexia), GWAS catalog (Inflammatory skin disease) Related via 2 shared diseases including Dyslexia, Inflammatory skin disease — evidence mostly GWAS catalog. NMT1 2 shared diseasesDry eye syndrome, Dyslexia 2 shared evidence sourcesGWAS catalog (Dry eye syndrome), GWAS catalog (Dyslexia) Related via 2 shared diseases including Dry eye syndrome, Dyslexia — evidence mostly GWAS catalog. SLIT3 2 shared diseasesDry eye syndrome, Inflammatory skin disease 2 shared evidence sourcesGWAS catalog (Dry eye syndrome), GWAS catalog (Inflammatory skin disease) Related via 2 shared diseases including Dry eye syndrome, Inflammatory skin disease — evidence mostly GWAS catalog.
Insomnia Linked via 2 of 5 related genesRC3H1, NMT1 Lung cancer Linked via 1 of 5 related genesCRTAC1 Nasopharyngeal neoplasms Linked via 1 of 5 related genesCRTAC1 Hemophagocytic lymphohistiocytosis Linked via 1 of 5 related genesRC3H1 Psychiatric disorders Linked via 1 of 5 related genesRC3H1