CCDC7

gene
On this page

Also known as FLJ32762FLJ13031BIOT2

Summary

CCDC7 (coiled-coil domain containing 7, HGNC:26533) is a protein-coding gene on chromosome 10p11.22, encoding Coiled-coil domain-containing protein 7 (Q96M83). May play a role in tumorigenesis.

At a glance

  • Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
  • GWAS associations: 4
  • Clinical variants (ClinVar): 85 total
  • MANE Select transcript: NM_001395015

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26533
Approved symbolCCDC7
Namecoiled-coil domain containing 7
Location10p11.22
Locus typegene with protein product
StatusApproved
AliasesFLJ32762, FLJ13031, BIOT2
Ensembl geneENSG00000216937
Ensembl biotypeprotein_coding
OMIM619444
Entrez79741

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 7 protein_coding, 4 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

ENST00000277657, ENST00000302316, ENST00000362006, ENST00000375025, ENST00000375028, ENST00000476558, ENST00000537047, ENST00000539197, ENST00000545067, ENST00000638889, ENST00000639041, ENST00000639290, ENST00000639453, ENST00000639629, ENST00000640058

RefSeq mRNA: 4 — MANE Select: NM_001395015 NM_001026383, NM_001321115, NM_001395015, NM_145023

CCDS: CCDS7173, CCDS86081

Canonical transcript exons

ENST00000639629 — 44 exons

ExonStartEnd
ENSE000016276093245334432453436
ENSE000016284963246301732463049
ENSE000017302903246268332462703
ENSE000017455673271162032711730
ENSE000017577953245625132456334
ENSE000017758283269487932694992
ENSE000032303743281437032814453
ENSE000032355663282451832824604
ENSE000032382923284524332845326
ENSE000032461363285440032854489
ENSE000032835983277897732779084
ENSE000032932463272933232729457
ENSE000033108793266405432664161
ENSE000033281623284859632848718
ENSE000033671033272673432726832
ENSE000033720933285180732851932
ENSE000033821523284554332845626
ENSE000033831493284783332847916
ENSE000033875253268905332689163
ENSE000033898803284637632846459
ENSE000034049463283481532834898
ENSE000034418643280501532805098
ENSE000034467223284587632845959
ENSE000034720853249192232491997
ENSE000034905323247106432471230
ENSE000035290133247248132472542
ENSE000035699753256767032567891
ENSE000035702103254330032543385
ENSE000036218753256555832565620
ENSE000036267573251794532517975
ENSE000036583933254424732544301
ENSE000036766063247396732474023
ENSE000038029293287634732876580
ENSE000038029963244614032446397
ENSE000038088963263505732635158
ENSE000038092583258423232584304
ENSE000038109493257185932571893
ENSE000038112333263425432634364
ENSE000038112753258303432583307
ENSE000039611603288269332882864
ENSE000039633533245159232451921
ENSE000039633593272888732728997
ENSE000039633603268597032686080
ENSE000039633623251841632518505

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 97.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3652 / max 175.4721, expressed in 1587 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1046243.29191231
1046251.6193811
1046261.4540614

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370197.04gold quality
left testisUBERON:000453396.57gold quality
spermCL:000001996.43gold quality
right testisUBERON:000453496.05gold quality
sural nerveUBERON:001548895.05gold quality
male germ cellCL:000001595.02gold quality
testisUBERON:000047393.77gold quality
tendonUBERON:000004391.68gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047390.34gold quality
tendon of biceps brachiiUBERON:000818887.73gold quality
colonic epitheliumUBERON:000039785.79gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.26gold quality
adrenal tissueUBERON:001830382.04gold quality
medial globus pallidusUBERON:000247780.94gold quality
corpus callosumUBERON:000233676.25gold quality
cortical plateUBERON:000534375.18gold quality
diaphragmUBERON:000110375.10gold quality
popliteal arteryUBERON:000225073.96gold quality
tibial arteryUBERON:000761073.95gold quality
granulocyteCL:000009473.64gold quality
bone marrow cellCL:000209273.59gold quality
ascending aortaUBERON:000149673.51gold quality
aortaUBERON:000094773.49gold quality
globus pallidusUBERON:000187573.45gold quality
arteryUBERON:000163773.39gold quality
thoracic aortaUBERON:000151573.32gold quality
hindlimb stylopod muscleUBERON:000425273.27gold quality
tibial nerveUBERON:000132373.23gold quality
leukocyteCL:000073873.19gold quality
adenohypophysisUBERON:000219673.18gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-CURD-112yes7.73
E-ANND-3no6.48

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

13 targeting CCDC7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6817-3P99.7968.352126
HSA-MIR-3934-3P99.7665.511351
HSA-MIR-1212999.7267.451311
HSA-MIR-127699.3668.181642
HSA-MIR-431199.3170.473041
HSA-MIR-887-5P98.8265.901347
HSA-MIR-468698.7766.87964
HSA-MIR-58398.7167.441791
HSA-MIR-30C-1-3P97.8066.361499
HSA-MIR-30C-2-3P97.8066.451499
HSA-MIR-6788-5P97.8066.411532
HSA-MIR-6828-3P96.0667.611155
HSA-MIR-6777-3P95.3564.30699

Literature-anchored findings (GeneRIF, showing 2)

  • Overexpression of hBiot2 is associated with early and interim development of human cervical cancer. (PMID:21109960)
  • A higher expression of hBiot2 in primary CRC patients independently indicates a poorer prognosis. (PMID:22024937)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Coiled-coil domain-containing protein 7Q96M83 (reviewed: Q96M83)

Alternative names: Protein BIOT2

All UniProt accessions (9): Q96M83, A0A096LNG8, A0A0A6YYA4, A0A1B0GWZ1, A0A1W2PNE7, A0A384NKY2, A6YT98, A6YT99, A6YTA0

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in tumorigenesis.

Tissue specificity. Expressed in epithelium of normal cervix and cervical cancer. Overexpressed in early and interim cervical cancer.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (5)

UniProt IDNamesCanonical?
Q96M83-11yes
Q96M83-22
Q96M83-33
Q96M83-44
Q96M83-55

RefSeq proteins (4): NP_001021554, NP_001308044, NP_001381944, NP_659460 (=MANE)

Domains & families (InterPro)

IDNameType
IPR029272CCDC7Family

Pfam: PF15368

UniProt features (36 total): compositionally biased region 14, splice variant 8, sequence variant 5, region of interest 4, sequence conflict 2, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96M83-F143.530.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 46 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_DN, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GEORGES_TARGETS_OF_MIR192_AND_MIR215, chr10p11, ZWANG_DOWN_BY_2ND_EGF_PULSE, GSE13522_WT_VS_IFNG_KO_SKING_T_CRUZI_Y_STRAIN_INF_UP, CREB3L4_TARGET_GENES, ELF2_TARGET_GENES, GLI3_TARGET_GENES, NCOA6_TARGET_GENES, NPAT_TARGET_GENES, SKIL_TARGET_GENES, UBN1_TARGET_GENES, CASP8AP2_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1

Protein interactions and networks

STRING

552 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CCDC7E5RHQ9E5RHQ9418
CCDC7CCDC136Q96JN2415
CCDC7KIAA0586Q9BVV6405
CCDC7TMA7Q9Y2S6402
CCDC7ODAD1Q96M63380
CCDC7ANKRD18BA2A2Z9379
CCDC7YEATS2Q9ULM3375
CCDC7CYCSP00001374
CCDC7ZNF732B4DXR9371
CCDC7CEP120Q8N960359
CCDC7ARL17BI3L3L1352
CCDC7NOL4O94818351
CCDC7ARL17AQ8IVW1348
CCDC7RLFQ13129348
CCDC7LRRC49Q8IUZ0348

IntAct

10 interactions, top by confidence:

ABTypeScore
CCDC7PLXNA1psi-mi:“MI:0915”(physical association)0.400
CCDC7KLHL20psi-mi:“MI:0915”(physical association)0.400
CCDC7ITGA6psi-mi:“MI:0915”(physical association)0.400
CIAO1CCDC7psi-mi:“MI:0915”(physical association)0.370
EWSR1CCDC7psi-mi:“MI:0915”(physical association)0.370
CCDC7ZDHHC17psi-mi:“MI:0915”(physical association)0.370
APBB1SSPOPpsi-mi:“MI:0914”(association)0.350
ATG16L1psi-mi:“MI:0914”(association)0.350
KLHL22TRAV18psi-mi:“MI:0914”(association)0.350

BioGRID (31): CCDC7 (Two-hybrid), CCDC7 (Two-hybrid), CCDC7 (Two-hybrid), CCDC7 (Affinity Capture-RNA), CCDC7 (Affinity Capture-MS), CCDC7 (Synthetic Lethality), CCDC7 (Affinity Capture-MS), CCDC7 (Two-hybrid), PLXNA1 (Proximity Label-MS), CCDC7 (Proximity Label-MS), KLHL20 (Proximity Label-MS), CCDC7 (Affinity Capture-MS), CCDC7 (Affinity Capture-MS), HIST1H1C (Cross-Linking-MS (XL-MS)), CCDC7 (Protein-peptide)

ESM2 similar proteins: A0A1B0GVN3, A1KXM5, A2AEY4, A6NFE2, A6QQS3, A7A061, A7KBS4, A8MTZ7, B3LRH6, B4HGK2, B4QT24, B5VMP2, E1JH25, F4KIH4, F6XZJ7, O36020, O49498, O74981, O94713, O96001, P21691, P22575, P88825, Q11194, Q2YDJ5, Q32MG2, Q3URS2, Q4V8E9, Q5BB76, Q5JRM2, Q5R7U0, Q5RDG2, Q6AXV6, Q6AXY9, Q6P1M9, Q6PI77, Q80VJ6, Q810T2, Q8BUY8, Q8NA61

Diamond homologs: Q95J40, Q96M83, Q9D541

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance65
Likely benign6
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3586 predictions. Top by Δscore:

VariantEffectΔscore
10:32446290:G:GTdonor_gain1.0000
10:32451918:GATG:Gdonor_gain1.0000
10:32451923:T:Adonor_loss1.0000
10:32453340:A:AGacceptor_gain1.0000
10:32453340:ACAG:Aacceptor_gain1.0000
10:32453341:C:Gacceptor_gain1.0000
10:32453342:A:AGacceptor_gain1.0000
10:32453342:AG:Aacceptor_gain1.0000
10:32453342:AGGTT:Aacceptor_gain1.0000
10:32453343:G:GTacceptor_gain1.0000
10:32453343:GG:Gacceptor_gain1.0000
10:32453343:GGT:Gacceptor_gain1.0000
10:32453343:GGTT:Gacceptor_gain1.0000
10:32453343:GGTTG:Gacceptor_gain1.0000
10:32453432:TATCT:Tdonor_gain1.0000
10:32453433:ATCT:Adonor_gain1.0000
10:32453434:TCT:Tdonor_gain1.0000
10:32453435:CT:Cdonor_gain1.0000
10:32453436:TG:Tdonor_loss1.0000
10:32453437:G:GGdonor_gain1.0000
10:32453437:G:Tdonor_loss1.0000
10:32453438:T:Adonor_loss1.0000
10:32453441:G:GGdonor_gain1.0000
10:32456335:G:GGdonor_gain1.0000
10:32471231:G:GGdonor_gain1.0000
10:32543273:A:AGacceptor_gain1.0000
10:32543274:T:Gacceptor_gain1.0000
10:32543278:T:Aacceptor_gain1.0000
10:32543279:G:Aacceptor_gain1.0000
10:32543285:T:Gacceptor_gain1.0000

AlphaMissense

9145 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:32451914:T:CL91P0.994
10:32567673:G:CA401P0.991
10:32565612:G:CA397P0.989
10:32463020:T:CF161L0.985
10:32463022:T:AF161L0.985
10:32463022:T:GF161L0.985
10:32518483:T:CL324P0.981
10:32565592:T:CL390P0.980
10:32567695:T:CL408P0.978
10:32462696:T:CL157P0.977
10:32456306:T:CL143P0.976
10:32451800:T:CL53P0.975
10:32471170:T:CL206P0.975
10:32463017:T:AW160R0.973
10:32463017:T:CW160R0.973
10:32491981:G:CA286P0.973
10:32451839:C:AA66D0.972
10:32491969:T:CF282L0.972
10:32491971:T:AF282L0.972
10:32491971:T:GF282L0.972
10:32473969:T:CF248L0.970
10:32473971:C:AF248L0.970
10:32473971:C:GF248L0.970
10:32451838:G:CA66P0.968
10:32463021:T:CF161S0.965
10:32567682:G:CA404P0.964
10:32518471:T:CL320P0.963
10:32565604:T:CL394S0.958
10:32456314:G:CA146P0.957
10:32565571:T:CL383P0.953

dbSNP variants (sampled 300 via entrez): RS1000013295 (10:32657887 A>G), RS1000024535 (10:32644514 A>T), RS1000027578 (10:32473057 A>G), RS1000028812 (10:32603695 G>A), RS1000029192 (10:32564441 C>T), RS1000049003 (10:32862116 T>C), RS1000057543 (10:32781255 C>A), RS1000064985 (10:32758547 A>C,T), RS1000067526 (10:32705875 C>G), RS1000070292 (10:32494596 C>T), RS1000075002 (10:32667052 T>C,G), RS1000082377 (10:32871394 G>A), RS1000084293 (10:32811668 C>G), RS1000084589 (10:32480540 A>G), RS1000086840 (10:32571054 G>A)

Disease associations

OMIM: gene MIM:619444 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
Tourette syndromeNo Known Disease RelationshipUnknown

Mondo (1): Tourette syndrome (MONDO:0007661)

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

StudyTraitp-value
GCST002699_2Suicide in bipolar disorder2.000000e-06
GCST003264_259Post bronchodilator FEV1/FVC ratio4.000000e-06
GCST010320_45PR interval2.000000e-08
GCST010321_20PR interval5.000000e-10

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0006882suicide behaviour measurement
EFO:0004713FEV/FVC ratio
EFO:0004462PR interval

MeSH disease descriptors (1)

DescriptorNameTree numbers
D005879Tourette SyndromeC10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

ChemicalActions (top 5)PubMed papers
triphenyl phosphateaffects expression1
butyraldehydedecreases expression1
CGP 52608affects binding, increases reaction1
Grape Seed Proanthocyanidinsdecreases expression, affects cotreatment1
Sunitinibincreases expression1
Cannabidioldecreases expression1
Catechinaffects cotreatment, decreases expression1
Methotrexateincreases expression1
Tretinoindecreases expression1
Cadmium Chlorideincreases expression1
Okadaic Aciddecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00152750PHASE4UNKNOWNStudy of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00226824PHASE4TERMINATEDSafety Study of Galantamine in Tic Disorders
NCT00241176PHASE4COMPLETEDOpen Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder
NCT00370838PHASE4COMPLETEDComparison of Keppra and Clonidine in the Treatment of Tics
NCT01018056PHASE4COMPLETEDDeveloping New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission
NCT01547000PHASE4COMPLETEDGuanfacine in Children With Tic Disorders
NCT03239210PHASE4COMPLETEDEffects of Ondansetron in Obsessive-compulsive and Tic Disorders
NCT00004376PHASE3COMPLETEDPhase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder
NCT00206323PHASE3COMPLETEDA Randomized, Placebo-controlled, Tourette Syndrome Study.
NCT00206336PHASE3COMPLETEDAn Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome.
NCT00478842PHASE3COMPLETEDPallidal Stimulation and Gilles de la Tourette Syndrome
NCT00681863PHASE3TERMINATEDOpen-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome
NCT01501695PHASE3COMPLETEDPhase III Study of 5LGr to Treat Tic Disorder
NCT03087201PHASE3COMPLETEDCANNAbinoids in the Treatment of TICS (CANNA-TICS)
NCT03487783PHASE3COMPLETEDAripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome
NCT03567291PHASE3TERMINATEDEvaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents
NCT03571256PHASE3COMPLETEDA Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS)
NCT06021522PHASE3ACTIVE_NOT_RECRUITINGA Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder
NCT00004393PHASE2COMPLETEDPhase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome
NCT00004652PHASE2COMPLETEDPhase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome
NCT00231985PHASE2COMPLETEDEffectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder
NCT00311909PHASE2COMPLETEDThalamic Deep Brain Stimulation for Tourette Syndrome
NCT00529308PHASE2COMPLETEDTranscranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome
NCT00558467PHASE2COMPLETEDPramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria
NCT01043549PHASE2TERMINATEDRepetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome
NCT01133353PHASE2WITHDRAWNA Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome
NCT01475383PHASE2WITHDRAWNStudy Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome
NCT01647269PHASE2COMPLETEDA Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome
NCT01904773PHASE2COMPLETEDSafety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder
NCT02102698PHASE2COMPLETEDEcopipam Treatment of Tourette’s Syndrome in Subjects 7-17 Years
NCT02217007PHASE2WITHDRAWNA Trial Evaluating the Efficacy, Safety, and Pharmacokinetics of SNC-102 in Subjects With Tourette Syndrome
NCT02247206PHASE2COMPLETEDVoIP Delivered Behavior Therapy for Tourette Syndrome
NCT02581865PHASE2COMPLETEDSafety and Efficacy Study of NBI-98854 in Adults With Tourette Syndrome
NCT02619084PHASE2COMPLETEDSubthalamic Stimulation in Tourette’s Syndrome
NCT02679079PHASE2COMPLETEDSafety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome
NCT02879578PHASE2COMPLETEDSafety and Tolerability Study of NBI-98854 for the Treatment of Subjects With Tourette Syndrome
NCT03066193PHASE2COMPLETEDEfficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome
NCT03247244PHASE2TERMINATEDSafety and Efficacy of Cannabis in Tourette Syndrome
NCT03325010PHASE2COMPLETEDSafety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome
NCT03444038PHASE2COMPLETEDOpen-Label Safety and Tolerability Study of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome
  • Associated diseases: Tourette syndrome
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Tourette syndrome