C17orf67 (chromosome 17 open reading frame 67)

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Gene Gene information from NCBI Gene database.
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Entrez ID 339210
Gene name Chromosome 17 open reading frame 67
Gene symbol C17orf67
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q22
miRNA miRNA information provided by mirtarbase database.
5
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miRTarBase ID miRNA Experiments Reference
MIRT836658 hsa-miR-2276 CLIP-seq
MIRT836659 hsa-miR-3617 CLIP-seq
MIRT836660 hsa-miR-4772-3p CLIP-seq
MIRT836661 hsa-miR-544 CLIP-seq
MIRT836662 hsa-miR-641 CLIP-seq
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, 32814053
GO:0005576 Component Extracellular region IEA
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.
Q0P5P2
Protein name Uncharacterized protein C17orf67
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15076 DUF4543 17 → 90 Domain of unknown function (DUF4543) Family
Sequence 
MKTLPVLVLSLTLLTVFSETSPILTEKQAKQLLRSRRQDRPSKPGFPDEPMREYMHHLLA
LEHRAEEQFLEHWLNPHCKPHCDRNRIHPV
Sequence length 90
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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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 (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog 30573740
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS — GWAS catalog 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE — GWAS catalog 26192919, 26974007, 28067908
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE — GWAS catalog 26192919, 28067908
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT — GWAS catalog 20023658, 22863734, 27033726
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (10)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 33663605 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 23354108
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome CLINVAR_DG 24511134
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholangitis, Sclerosing Cholangitis GWASCAT_DG 26974007
★★★★★
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease GWASCAT_DG 26192919, 26974007
★★★★★
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease GWASCAT_DG 26192919
★★★★★
★☆☆☆☆
Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 7 Nephrotic Syndrome CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Psoriasis Psoriasis GWASCAT_DG 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis Ulcerative colitis GWASCAT_DG 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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TMEM174 2 shared diseasesOrofacial cleft, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Orofacial cleft), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Orofacial cleft, Sclerosing cholangitis — evidence mostly GWAS catalog. PRKCQ 2 shared diseasesRetinal detachment, Sclerosing cholangitis 2 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Retinal detachment, Sclerosing cholangitis — evidence mostly GWAS catalog. NOG 3 shared diseasesOrofacial cleft, Retinal detachment, Sleep apnea 4 shared evidence sourcesGWAS catalog (Amyotrophic lateral sclerosis), GWAS catalog (Orofacial cleft), GWAS catalog (Retinal detachment), GWAS catalog (Sleep apnea) Related via 3 shared diseases including Orofacial cleft, Retinal detachment — evidence mostly GWAS catalog. ASCL2 2 shared diseasesOrofacial cleft, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Orofacial cleft), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Orofacial cleft, Sclerosing cholangitis — evidence mostly GWAS catalog. SLC39A11 1 shared diseaseSclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Amyotrophic lateral sclerosis), GWAS catalog (Ankylosing spondylitis), GWAS catalog (Sclerosing cholangitis) Related via 1 shared disease including Sclerosing cholangitis — evidence mostly GWAS catalog.
Diabetes mellitus type 2 Linked via 3 of 5 related genesPRKCQ, ASCL2, SLC39A11 Diabetes mellitus type 1 Linked via 2 of 5 related genesPRKCQ, ASCL2 Prostate cancer Linked via 2 of 5 related genesASCL2, SLC39A11 Graft versus host disease Linked via 1 of 5 related genesTMEM174 Color vision deficiency Linked via 1 of 5 related genesTMEM174