CCDC171

gene
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Also known as FLJ39267FLJ46740Em:AL513423.1bA778P13.1bA536D16.1

Summary

CCDC171 (coiled-coil domain containing 171, HGNC:29828) is a protein-coding gene on chromosome 9p22.3, encoding Coiled-coil domain-containing protein 171 (Q6TFL3).

At a glance

  • GWAS associations: 19
  • Clinical variants (ClinVar): 285 total — 2 pathogenic
  • MANE Select transcript: NM_173550

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29828
Approved symbolCCDC171
Namecoiled-coil domain containing 171
Location9p22.3
Locus typegene with protein product
StatusApproved
AliasesFLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1
Ensembl geneENSG00000164989
Ensembl biotypeprotein_coding
Entrez203238

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 9 protein_coding, 6 protein_coding_CDS_not_defined

ENST00000380701, ENST00000432954, ENST00000449575, ENST00000470191, ENST00000472806, ENST00000474193, ENST00000478913, ENST00000486641, ENST00000498725, ENST00000905141, ENST00000905142, ENST00000971281, ENST00000971282, ENST00000971283, ENST00000971284

RefSeq mRNA: 3 — MANE Select: NM_173550 NM_001348002, NM_001355547, NM_173550

CCDS: CCDS6481

Canonical transcript exons

ENST00000380701 — 26 exons

ExonStartEnd
ENSE000013755921572368115723746
ENSE000014859601597160915974037
ENSE000015932721559136615591556
ENSE000016226491578450915784694
ENSE000016294361559404115594172
ENSE000016600661572176915721875
ENSE000016668731569523515695337
ENSE000016769621565712715657219
ENSE000016928611567875815678896
ENSE000016998091572961015729798
ENSE000017033571557162415571759
ENSE000017144551577896815779150
ENSE000017315321572786915728036
ENSE000017577791572477615724976
ENSE000017586151566616315666323
ENSE000017681671577760015777826
ENSE000017734951574551515745631
ENSE000017779581574427315744777
ENSE000017843911562326715623413
ENSE000017987541557884915579023
ENSE000019206161555304315553302
ENSE000027335241556397815564129
ENSE000035275441592027015920422
ENSE000035536571584670215846847
ENSE000036309491584889315848947
ENSE000036708541587453215874663

Expression profiles

Bgee: expression breadth ubiquitous, 181 present calls, max score 88.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.2349 / max 142.0891, expressed in 1131 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter IDTPM avgSamples expressed
961510.9841500
961520.7335441
961500.5666260
961530.3707150
2054340.208768
961540.171164
961590.131714
961490.04087
961550.01833
961600.00953

Top tissues by expression

239 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047388.08gold quality
left testisUBERON:000453387.97gold quality
right testisUBERON:000453487.34gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099186.46gold quality
testisUBERON:000047385.91gold quality
right uterine tubeUBERON:000130284.12gold quality
body of uterusUBERON:000985383.63gold quality
cortical plateUBERON:000534382.90gold quality
spermCL:000001982.26gold quality
calcaneal tendonUBERON:000370181.19gold quality
smooth muscle tissueUBERON:000113579.82gold quality
tibial nerveUBERON:000132379.34gold quality
sural nerveUBERON:001548879.17gold quality
buccal mucosa cellCL:000233678.43gold quality
ventricular zoneUBERON:000305377.96gold quality
right hemisphere of cerebellumUBERON:001489077.34gold quality
cerebellar hemisphereUBERON:000224576.81gold quality
cerebellar cortexUBERON:000212976.63gold quality
ganglionic eminenceUBERON:000402375.22gold quality
cerebellumUBERON:000203774.79gold quality
tendonUBERON:000004374.35gold quality
right frontal lobeUBERON:000281073.77gold quality
myometriumUBERON:000129673.17gold quality
left ovaryUBERON:000211973.00gold quality
Brodmann (1909) area 9UBERON:001354072.55gold quality
C1 segment of cervical spinal cordUBERON:000646972.35gold quality
tibial arteryUBERON:000761072.19gold quality
popliteal arteryUBERON:000225072.18gold quality
adrenal tissueUBERON:001830372.10gold quality
anterior cingulate cortexUBERON:000983571.70gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes6.95
E-CURD-112no2.91

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusCcdc171ENSMUSG00000052407
rattus_norvegicusAABR07049060.1ENSRNOG00000033445

Protein

Protein identifiers

Coiled-coil domain-containing protein 171Q6TFL3 (reviewed: Q6TFL3)

All UniProt accessions (3): Q6TFL3, H0Y5M5, H0Y701

UniProt curated annotations — full annotation on UniProt →

Isoforms (3)

UniProt IDNamesCanonical?
Q6TFL3-11yes
Q6TFL3-32
Q6TFL3-43

RefSeq proteins (3): NP_001334931, NP_001342476, NP_775821* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR038820CCDC171Family

UniProt features (21 total): coiled-coil region 8, sequence variant 5, splice variant 3, sequence conflict 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6TFL3-F171.560.04

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 59 (showing top): CGGAARNGGCNG_UNKNOWN, GGCKCATGS_UNKNOWN, MYB_Q3, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, RIGGI_EWING_SARCOMA_PROGENITOR_UP, MYB_Q5_01, TGGAAA_NFAT_Q4_01, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_DN, GSE13547_WT_VS_ZFX_KO_BCELL_ANTI_IGM_STIM_12H_DN, ARID5B_TARGET_GENES, FOXD2_TARGET_GENES, HES2_TARGET_GENES, NFE2L1_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

570 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CCDC171TTC39BQ5VTQ0516
CCDC171SNAPC3Q92966475
CCDC171DEPP1Q9NTK1459
CCDC171FREM1Q5H8C1448
CCDC171ZNF654Q8IZM8419
CCDC171DENND4CQ5VZ89409
CCDC171CCDC190Q86UF4404
CCDC171CCDC74BQ96LY2400
CCDC171CCDC169A6NNP5400
CCDC171IGSF22Q8N9C0384
CCDC171CLCN3P51790381
CCDC171CCL5P13501377
CCDC171IL17AQ16552377
CCDC171IL13P35225375
CCDC171CCL3P10147375

IntAct

5 interactions, top by confidence:

ABTypeScore
CCDC171S100A10psi-mi:“MI:0915”(physical association)0.400
CCDC171HSP90B1psi-mi:“MI:0915”(physical association)0.400
CRY1IGKV2D-30psi-mi:“MI:0914”(association)0.350
CSNK2BTUBAL3psi-mi:“MI:0914”(association)0.350

BioGRID (11): CCDC171 (Synthetic Lethality), CCDC171 (Affinity Capture-RNA), CCDC171 (Proximity Label-MS), CCDC171 (Proximity Label-MS), CCDC171 (Affinity Capture-MS), CCDC171 (Affinity Capture-MS), CCDC171 (Cross-Linking-MS (XL-MS)), C12orf45 (Cross-Linking-MS (XL-MS)), PCM1 (Cross-Linking-MS (XL-MS)), CCDC171 (Affinity Capture-MS), CCDC171 (Affinity Capture-RNA)

ESM2 similar proteins: A2AIV8, A2AL36, A2AM05, A3KNA5, A6PWD2, B1AJZ9, B2RZ86, B9V5F5, E9Q1U1, O35550, O35551, P0CAP1, P27628, P55937, Q08DR9, Q0IHN7, Q0VF96, Q15276, Q19UN5, Q29RS0, Q4L180, Q5BIX7, Q5R923, Q6AW69, Q6NRC9, Q6P6L0, Q6PHN1, Q6TFL3, Q70FJ1, Q7YS99, Q7Z7A1, Q7Z7B0, Q861Q8, Q86SQ7, Q8BI22, Q8K3K8, Q8K4T4, Q8N998, Q8R5M4, Q95JI9

Diamond homologs: E9Q1U1, Q6TFL3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

285 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic2
Likely pathogenic0
Uncertain significance253
Likely benign10
Benign3

Top pathogenic / likely-pathogenic (2)

Variant IDHGVSClassification
2685337GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1Pathogenic
562131GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1Pathogenic

SpliceAI

6939 predictions. Top by Δscore:

VariantEffectΔscore
9:15578847:A:AGacceptor_gain1.0000
9:15578847:AGCT:Aacceptor_gain1.0000
9:15578848:G:GGacceptor_gain1.0000
9:15578848:GCTG:Gacceptor_gain1.0000
9:15579021:GTG:Gdonor_gain1.0000
9:15591364:A:AGacceptor_gain1.0000
9:15591365:G:GGacceptor_gain1.0000
9:15591365:GCACA:Gacceptor_gain1.0000
9:15591474:A:Tdonor_gain1.0000
9:15623261:TTCCA:Tacceptor_loss1.0000
9:15623262:TCCA:Tacceptor_loss1.0000
9:15623263:CCA:Cacceptor_loss1.0000
9:15623264:CA:Cacceptor_loss1.0000
9:15623265:AGG:Aacceptor_loss1.0000
9:15623266:G:Aacceptor_loss1.0000
9:15623412:AGG:Adonor_loss1.0000
9:15623414:GT:Gdonor_loss1.0000
9:15623415:T:Adonor_loss1.0000
9:15657125:A:AGacceptor_gain1.0000
9:15657126:G:GGacceptor_gain1.0000
9:15666153:C:Aacceptor_gain1.0000
9:15666157:C:Aacceptor_gain1.0000
9:15666161:A:AGacceptor_gain1.0000
9:15666162:G:GGacceptor_gain1.0000
9:15666162:GTTAC:Gacceptor_gain1.0000
9:15666319:AATTT:Adonor_gain1.0000
9:15666320:ATTT:Adonor_gain1.0000
9:15666321:TTT:Tdonor_gain1.0000
9:15666321:TTTG:Tdonor_loss1.0000
9:15666322:TT:Tdonor_gain1.0000

AlphaMissense

8814 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
9:15846714:G:CA1094P0.998
9:15779038:G:CR990P0.997
9:15784686:G:CA1087P0.997
9:15846727:T:CL1098P0.997
9:15846757:T:CL1108P0.997
9:15846769:T:CL1112P0.997
9:15846819:G:CA1129P0.996
9:15657193:T:CS297P0.995
9:15657199:T:CF299L0.995
9:15657201:T:AF299L0.995
9:15657201:T:GF299L0.995
9:15666179:T:CL311P0.995
9:15846748:T:CL1105P0.995
9:15657181:G:CA293P0.994
9:15666167:G:CR307P0.994
9:15846706:T:CL1091P0.994
9:15846832:T:CL1133P0.993
9:15920382:T:CL1238P0.993
9:15779017:T:CL983P0.992
9:15779047:T:CL993P0.992
9:15846799:T:CL1122P0.992
9:15657178:G:CA292P0.991
9:15779041:G:CR991P0.991
9:15784552:T:CL1042P0.991
9:15784560:G:CA1045P0.991
9:15784615:T:CL1063P0.991
9:15846751:G:CR1106P0.991
9:15846778:T:CL1115P0.991
9:15578913:G:CR81P0.990
9:15657177:A:CR291S0.990

dbSNP variants (sampled 300 via entrez): RS1000003196 (9:15616333 A>C), RS1000006938 (9:15570734 G>C,T), RS1000011310 (9:15564004 C>T), RS1000012147 (9:16040107 A>G), RS1000013986 (9:15771578 T>A,C), RS1000016648 (9:16040483 G>A,T), RS1000018221 (9:15600644 C>G), RS1000019925 (9:16103869 C>A,G,T), RS1000020068 (9:15935994 A>G), RS1000020705 (9:16006316 T>C,G), RS1000028710 (9:15788411 T>A,C), RS1000031473 (9:15878578 C>G,T), RS1000031857 (9:15622251 A>G), RS1000032086 (9:16006089 T>C), RS1000032279 (9:15713546 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (3): prostate cancer (MONDO:0008315), intellectual disability (MONDO:0001071), isolated oxycephaly (MONDO:0018971)

Orphanet (3): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), OBSOLETE: Isolated oxycephaly (Orphanet:63440)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

19 associations (top):

StudyTraitp-value
GCST002783_134Body mass index5.000000e-09
GCST002783_319Body mass index6.000000e-09
GCST002783_600Body mass index9.000000e-07
GCST004904_43Body mass index3.000000e-10
GCST007325_260General risk tolerance (MTAG)3.000000e-09
GCST008129_49Body mass index1.000000e-10
GCST008154_72Trunk fat mass6.000000e-06
GCST008157_40Body fat mass4.000000e-07
GCST008550_7Mental health study participation (completed survey)3.000000e-08
GCST010133_1Lamb consumption1.000000e-15
GCST010141_2Beef consumption4.000000e-10
GCST010143_16Meat-related diet4.000000e-17
GCST010143_8Meat-related diet5.000000e-12
GCST010988_391Adult body size2.000000e-19
GCST010989_146Body size at age 102.000000e-09
GCST011704_9Smoking status (current vs never)3.000000e-08
GCST011742_53Triglyceride levels in HIV infection4.000000e-06
GCST012317_11Triglyceride levels x SSRI levels (escitalopram or citalopram) interaction in schizophrenia or bipolar disorder7.000000e-06
GCST90000025_464Appendicular lean mass7.000000e-14

EFO canonical traits (8, from GWAS)

EFO IDTrait name
EFO:0004340body mass index
EFO:0008579risk-taking behaviour
EFO:0010130health study participation
EFO:0008111diet measurement
EFO:0009819comparative body size at age 10, self-reported
EFO:0006527smoking status measurement
EFO:0004530triglyceride measurement
EFO:0004980appendicular lean mass

MeSH disease descriptors (2)

DescriptorNameTree numbers
D008607Intellectual DisabilityC10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D011471Prostatic NeoplasmsC04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Phenylmercuric Acetateaffects cotreatment, decreases expression2
aristolochic acid Idecreases expression1
methylmercuric chloridedecreases expression1
methyleugenoldecreases expression1
triphenyl phosphateaffects expression1
bisphenol Adecreases methylation, affects cotreatment1
ethyl-p-hydroxybenzoatedecreases expression1
trichostatin Adecreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
sodium arsenitedecreases expression1
butyraldehydedecreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression1
pentanaldecreases expression1
perfluorooctane sulfonic acidincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, decreases expression1
jinfukangaffects cotreatment, decreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Glyphosatedecreases expression1
Atrazinedecreases expression1
Benzo(a)pyrenedecreases expression1
Cisplatinaffects cotreatment, decreases expression1
Diethylhexyl Phthalatedecreases expression1
Lipopolysaccharidesdecreases expression, affects response to substance, increases expression1
Melphalandecreases expression1
Methotrexateincreases expression1
Nickeldecreases expression1
Potassium Dichromatedecreases expression1
Tetrachlorodibenzodioxindecreases expression1

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00029224PHASE4COMPLETEDTreatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997PHASE4COMPLETEDOpen-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609PHASE4COMPLETEDThe Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623PHASE4SUSPENDEDThe Plenaxis® Experience Study
NCT00106392PHASE4COMPLETEDA Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029PHASE4UNKNOWNMR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485PHASE4COMPLETEDAngelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219PHASE4COMPLETEDZoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271PHASE4COMPLETEDEffect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146PHASE4COMPLETEDStudy to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554PHASE4COMPLETEDOpen-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098PHASE4COMPLETEDDocetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696PHASE4COMPLETEDCasodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139PHASE4COMPLETEDEffect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765PHASE4COMPLETEDEffects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690PHASE4COMPLETEDEvaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708PHASE4COMPLETEDLocal Anesthesia for Prostate Biopsy
NCT00526331PHASE4COMPLETEDEvaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213PHASE4COMPLETEDCompare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330PHASE4TERMINATEDDissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966PHASE4COMPLETEDRadical Prostatectomy and Perioperative Fluid Therapy
NCT00805701PHASE4COMPLETEDStudy Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027PHASE4COMPLETEDEffect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269PHASE4UNKNOWNCan Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277PHASE4COMPLETEDStudy of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800PHASE4COMPLETEDDoes Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199PHASE4COMPLETEDGlobal Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226PHASE4COMPLETEDEvaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563PHASE4COMPLETEDRandomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905PHASE4COMPLETEDStudy to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672PHASE4COMPLETED3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143PHASE4TERMINATEDProspective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742PHASE4UNKNOWNComparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563PHASE4COMPLETEDHydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874PHASE4COMPLETEDEfficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472PHASE4TERMINATEDFirmagon (Degarelix) Intermittent Therapy
NCT01547416PHASE4COMPLETEDThe Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544PHASE4COMPLETEDThe Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749PHASE4UNKNOWNEvaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635PHASE4COMPLETEDStudy of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): isolated oxycephaly