CCDC171 (coiled-coil domain containing 171)

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Gene Gene information from NCBI Gene database.
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Entrez ID 203238
Gene name Coiled-coil domain containing 171
Gene symbol CCDC171
Synonyms (NCBI Gene)
C9orf93bA536D16.1bA778P13.1
Chromosome 9
Chromosome location 9p22.3
miRNA miRNA information provided by mirtarbase database.
62 Show/Hide all (62)
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miRTarBase ID miRNA Experiments Reference
MIRT624409 hsa-miR-4282 HITS-CLIP 23824327
MIRT624407 hsa-miR-302b-5p HITS-CLIP 23824327
MIRT624406 hsa-miR-302d-5p HITS-CLIP 23824327
MIRT624405 hsa-miR-4753-3p HITS-CLIP 23824327
MIRT624404 hsa-miR-6832-3p HITS-CLIP 23824327
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.
Q6TFL3
Protein name Coiled-coil domain-containing protein 171
Family and domains
Sequence 
MNLNTSSNTGDTQRLKIASLDVKQILKNETELDITDNLRKKLHWAKKEKLEITTKHNAEL
ASYESQIAKLRSEVEKGEALRQSLEYDLAVARKEAGLGRRAAEERLAEAHRIQEKLCAQN
SELQAKTNETEKAFQTSQQKWKEECRRFEHDLEERDNMIQNCNREYDLLMKEKSRLEKTL
QEALEKHQREKNEMESHIRETALEEFRLQEEQWEAERRELQFIVQEQDTAVQNMHKKVEK
LETEHMDCSDLLRRQTSELEFSTQREERLRKEFEATTLRVRKLEENIEAERAAHLESKFN
SEIIQLRIRDLEGALQVEKASQAEAVADLEIIKNEFKEVESAYEREKHNAQESFAKLNLL
EKEYFSKNKKLNEDIEEQKKVIIDLSKRLQYNEKSCSELQEELVMAKKHQAFLVETCENN
VKELESILDSFTVSGQWTSGIHKDKDKPPSFSVVLERLRRTLTDYQNKLEDASNEEKACN
ELDSTKQKIDSHTKNIKELQDKLADVNKELSHLHTKCADREALISTLKVELQNVLHCWEK
EKAQAAQSESELQKLSQAFHKDAEEKLTFLHTLYQHLVAGCVLIKQPEGMLDKFSWSELC
AVLQENVDALIADLNRANEKIRHLEYICKNKSDTMRELQQTQEDTFTKVAEQIKAQESCW
HRQKKELELQYSELFLEVQKRAQKFQEIAEKNMEKLNHIEKSHEQLVLENSHFKKLLSQT
QREQMSLLAACALMAGALYPLYSRSCALSTQRDFLQEQVNTFELFKLEIRTLAQALSTVE
EKKQEEAKMKKKTFKGLIRIFRKGVIAVLAANRLKILGQSCASLFTWMESFKEGIGMLVC
TGEPQDKHKFPKHQKEQLRCLQALSWLTSSDLLAAIISSMAELQDVIGKADPNSRICGHL
LIGAAKNSFAKLMDKISLVMECIPLHSSRSITYVEKDSLVQRLAHGLHKVNTLALKYGLR
GHVPITKSTASLQKQILGFTQRLHAAEVERRSLRLEVTEFKRSVNEMKKELDKAQGLQMQ
LNEFKQSKLITHEKFESACEELNNALLREEQAQMLLNEQAQQLQELNYKLELHSSEEADK
NQTLGEAVKSLSEAKMELRRKDQSLRQLNRHLTQLEQDKRRLEENIHDAESALRMAAKDK
ECVANHMRAVENTLHKVRDQISLSWSAASRNDFTLQLPKLHLETFAMEGLKGGPEVVACQ
AMIKSFMDVYQLASTRIMTLEKEMTSHRSHIAALKSELHTACLRENASLQSIGSRDHSNL
SIPSRAPLPADTTGIGDFLPLKAELDTTYTFLKETFINTVPHALTSSHSSPVTMSANANR
PTQIGL
Sequence length 1326
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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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 (16)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 30636644
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog 40645996
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 38565336
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM — GWAS catalog 30823506
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog 37851288
★★★★★
★★☆☆☆
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
Obesity Obesity BEFREE 29477148
★★★★★
★☆☆☆☆
Found in Text Mining only
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ESRRG 2 shared diseasesBrain aneurysm, Dyslexia 2 shared evidence sourcesGWAS catalog (Brain aneurysm), GWAS catalog (Dyslexia) Related via 2 shared diseases including Brain aneurysm, Dyslexia — evidence mostly GWAS catalog. HEATR5B 1 shared diseaseDyslexia 2 shared evidence sourcesGWAS catalog (Dyslexia), GWAS catalog (Heart failure) Related via 1 shared disease including Dyslexia — evidence mostly GWAS catalog. PPP2R3A 1 shared diseaseDyslexia 2 shared evidence sourcesGWAS catalog (Dyslexia), GWAS catalog (Heart failure) Related via 1 shared disease including Dyslexia — evidence mostly GWAS catalog. HYKK 1 shared diseaseBrain aneurysm 2 shared evidence sourcesGWAS catalog (Brain aneurysm), GWAS catalog (Heart failure) Related via 1 shared disease including Brain aneurysm — evidence mostly GWAS catalog. RBMS3 2 shared diseasesBrain aneurysm, Dyslexia 2 shared evidence sourcesGWAS catalog (Brain aneurysm), GWAS catalog (Dyslexia) Related via 2 shared diseases including Brain aneurysm, Dyslexia — evidence mostly GWAS catalog.
Obstructive pulmonary disease Linked via 3 of 5 related genesESRRG, HYKK, RBMS3 Schizophrenia Linked via 3 of 5 related genesPPP2R3A, HYKK, RBMS3 Major depressive disorder Linked via 2 of 5 related genesESRRG, RBMS3 Parkinson disease Linked via 2 of 5 related genesESRRG, RBMS3 Bipolar disorder Linked via 2 of 5 related genesPPP2R3A, RBMS3