CCDC110

gene
On this page

Also known as KM-HN-1MGC33607CT52

Summary

CCDC110 (coiled-coil domain containing 110, HGNC:28504) is a protein-coding gene on chromosome 4q35.1, encoding Coiled-coil domain-containing protein 110 (Q8TBZ0).

Located in cytosol and nucleoplasm.

Source: NCBI Gene 256309 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 123 total — 2 likely-pathogenic
  • Phenotypes (HPO): 3
  • MANE Select transcript: NM_152775

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:28504
Approved symbolCCDC110
Namecoiled-coil domain containing 110
Location4q35.1
Locus typegene with protein product
StatusApproved
AliasesKM-HN-1, MGC33607, CT52
Ensembl geneENSG00000168491
Ensembl biotypeprotein_coding
OMIM609488
Entrez256309

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 3 nonsense_mediated_decay

ENST00000307588, ENST00000393540, ENST00000504020, ENST00000506876, ENST00000506962, ENST00000507501, ENST00000508538, ENST00000510481, ENST00000510617, ENST00000651260

RefSeq mRNA: 2 — MANE Select: NM_152775 NM_001145411, NM_152775

CCDS: CCDS3843, CCDS47170

Canonical transcript exons

ENST00000307588 — 7 exons

ExonStartEnd
ENSE00001170150185458126185460238
ENSE00001199097185445182185445542
ENSE00001199119185471674185471733
ENSE00001199132185470945185471049
ENSE00003552800185462994185463049
ENSE00003648987185462643185462708
ENSE00003759725185461049185461159

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 97.75.

FANTOM5 (CAGE): breadth broad, TPM avg 0.7335 / max 102.8629, expressed in 327 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
552570.6281313
552590.06899
552580.02724
552600.00934

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spermCL:000001997.75gold quality
left testisUBERON:000453394.48gold quality
right testisUBERON:000453493.58gold quality
testisUBERON:000047391.94gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047388.98gold quality
body of pancreasUBERON:000115087.15gold quality
right uterine tubeUBERON:000130283.64gold quality
pancreasUBERON:000126483.63gold quality
islet of LangerhansUBERON:000000681.69gold quality
adult organismUBERON:000702381.25gold quality
calcaneal tendonUBERON:000370176.92gold quality
right lobe of thyroid glandUBERON:000111972.55gold quality
adenohypophysisUBERON:000219672.53gold quality
left lobe of thyroid glandUBERON:000112071.98gold quality
right coronary arteryUBERON:000162571.24gold quality
tibial arteryUBERON:000761071.18gold quality
popliteal arteryUBERON:000225071.17gold quality
thyroid glandUBERON:000204670.80gold quality
mucosa of stomachUBERON:000119970.50gold quality
pituitary glandUBERON:000000770.12gold quality
muscle of legUBERON:000138369.61gold quality
gastrocnemiusUBERON:000138869.37gold quality
aortaUBERON:000094769.34gold quality
hindlimb stylopod muscleUBERON:000425269.17gold quality
body of stomachUBERON:000116168.88gold quality
smooth muscle tissueUBERON:000113568.80gold quality
descending thoracic aortaUBERON:000234568.75gold quality
cerebellar hemisphereUBERON:000224568.62gold quality
cerebellar cortexUBERON:000212968.51gold quality
left coronary arteryUBERON:000162668.24gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes13.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting CCDC110, 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-5011-5P100.0083.465820
HSA-MIR-6748-5P100.0065.811057
HSA-MIR-3646100.0073.565283
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-4778-3P99.9370.401818
HSA-MIR-6835-3P99.9370.492904
HSA-MIR-579-3P99.8671.663628
HSA-MIR-664B-3P99.8471.653590
HSA-MIR-442299.7272.072908
HSA-MIR-1252-3P99.5567.712862
HSA-MIR-143-3P99.4969.051457
HSA-MIR-477099.4969.091451
HSA-MIR-608899.2968.451284
HSA-MIR-6780B-3P99.1367.18622
HSA-MIR-153-3P98.9672.511644
HSA-MIR-797798.6566.182590
HSA-MIR-429098.5165.17907
HSA-MIR-4766-3P98.4867.941347
HSA-MIR-937-5P97.4368.39667
HSA-MIR-5000-5P97.4066.111055
HSA-MIR-6736-3P96.9865.221342
HSA-MIR-668-5P90.2459.9779

Literature-anchored findings (GeneRIF, showing 1)

  • KM-HN-1 is a novel human cancer/testis antigen recognized by cellular and humoral immune responses (PMID:15447989)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Coiled-coil domain-containing protein 110Q8TBZ0 (reviewed: Q8TBZ0)

Alternative names: Cancer/testis antigen 52, Cancer/testis antigen KM-HN-1

All UniProt accessions (9): Q8TBZ0, A0A096LNP5, A0A096LNZ5, A0A494C037, D6RB18, D6RCR3, D6RDN4, E7EUS2, H0Y9S3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Tissue specificity. Expressed specifically in testis. Also expressed in tumors of different origins.

Isoforms (2)

UniProt IDNamesCanonical?
Q8TBZ0-11yes
Q8TBZ0-22

RefSeq proteins (2): NP_001138883, NP_689988* (*=MANE)

Domains & families (InterPro)

UniProt features (13 total): sequence variant 9, chain 1, coiled-coil region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8TBZ0-F166.670.31

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 609

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 29 (showing top): chr4q35, MIKKELSEN_IPS_HCP_WITH_H3_UNMETHYLATED, MIKKELSEN_ES_HCP_WITH_H3_UNMETHYLATED, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE13522_CTRL_VS_T_CRUZI_BRAZIL_STRAIN_INF_SKIN_UP, METTL14_TARGET_GENES, ZNF423_TARGET_GENES, MIR4778_3P, MIR7977, GSE11057_NAIVE_VS_EFF_MEMORY_CD4_TCELL_UP, MIR143_3P_MIR4770, GSE11057_EFF_MEM_VS_CENT_MEM_CD4_TCELL_DN, MIR6088, MIR6748_5P

GO Biological Process (0):

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

GO Cellular Component (4): nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoskeleton (GO:0005856), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
binding1
nuclear lumen1
cytoplasm1
intracellular membraneless organelle1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

394 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CCDC110ZNF165P49910623
CCDC110SPACA3Q8IXA5544
CCDC110RBM46Q8TBY0507
CCDC110CPXCR1Q8N123476
CCDC110FAM149AA5PLN7475
CCDC110FATE1Q969F0447
CCDC110TRIML1Q8N9V2433
CCDC110SPATA19Q7Z5L4422
CCDC110MED14O60244419
CCDC110MORC1Q86VD1400
CCDC110CT47A11Q5JQC4399
CCDC110CFAP96A7E2U8397
CCDC110CCDC83Q8IWF9392
CCDC110FTHL17Q9BXU8387
CCDC110IGSF11Q5DX21384

IntAct

11 interactions, top by confidence:

ABTypeScore
DEPTORCCDC110psi-mi:“MI:0915”(physical association)0.560
CCDC110FADS2psi-mi:“MI:0915”(physical association)0.400
CCDC110SF3B2psi-mi:“MI:0915”(physical association)0.400
CCDC110TGFBRAP1psi-mi:“MI:0915”(physical association)0.400
CCDC110CFTRpsi-mi:“MI:0915”(physical association)0.370
CAND1GTPBP10psi-mi:“MI:0914”(association)0.350
CUL3PXDNLpsi-mi:“MI:0914”(association)0.350
CCDC110addApsi-mi:“MI:0915”(physical association)0.000

BioGRID (17): CCDC110 (Two-hybrid), XDH (Affinity Capture-MS), CCDC110 (Proximity Label-MS), CCDC110 (Proximity Label-MS), TGFBRAP1 (Affinity Capture-MS), CCDC110 (PCA), HIST1H4A (Cross-Linking-MS (XL-MS)), CCDC110 (Cross-Linking-MS (XL-MS)), CCDC110 (Cross-Linking-MS (XL-MS)), CCDC110 (Cross-Linking-MS (XL-MS)), CCDC110 (Cross-Linking-MS (XL-MS)), EEA1 (Cross-Linking-MS (XL-MS)), KPNA1 (Cross-Linking-MS (XL-MS)), PRPF6 (Cross-Linking-MS (XL-MS)), LINC00675 (Affinity Capture-RNA)

ESM2 similar proteins: A2AKX3, A2RUR9, A6NGH7, A9JSR5, A9ZSY0, E1BC15, O14513, O60284, P70347, Q19UN5, Q2M2Z5, Q2YDE5, Q32L17, Q3MJ40, Q3V089, Q3V125, Q49A88, Q4UJ75, Q569L8, Q5BQN8, Q5CZ79, Q5IR70, Q5RHB5, Q5SQ80, Q5TYW2, Q5VUR7, Q641I1, Q66HB6, Q6AXY9, Q6ZP01, Q7T005, Q7Z333, Q811D2, Q8CDM4, Q8IYA2, Q8K389, Q8TBZ0, Q8TC20, Q92628, Q95JR0

Diamond homologs: Q3V125, Q8TBZ0, Q95JS9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic2
Uncertain significance108
Likely benign8
Benign0

Top pathogenic / likely-pathogenic (2)

Variant IDHGVSClassification
442364GRCh37/hg19 4q35.1-35.2(chr4:186349585-190957473)x1Likely pathogenic
545305Single alleleLikely pathogenic

SpliceAI

1275 predictions. Top by Δscore:

VariantEffectΔscore
4:185460239:C:CCacceptor_gain1.0000
4:185460891:CACAT:Cdonor_gain1.0000
4:185460895:T:Cdonor_gain1.0000
4:185460895:T:TAdonor_gain1.0000
4:185461045:ATA:Adonor_loss1.0000
4:185461046:T:TGdonor_loss1.0000
4:185461047:A:ACdonor_gain1.0000
4:185461047:AC:Adonor_loss1.0000
4:185461048:C:CCdonor_gain1.0000
4:185461048:C:CTdonor_loss1.0000
4:185461051:AAT:Adonor_gain1.0000
4:185462642:CCATG:Cdonor_gain1.0000
4:185462709:C:CCacceptor_gain1.0000
4:185462709:CTATG:Cacceptor_loss1.0000
4:185471668:TCTTA:Tdonor_loss1.0000
4:185471669:CTTAC:Cdonor_loss1.0000
4:185471670:TTAC:Tdonor_loss1.0000
4:185471671:TACCC:Tdonor_loss1.0000
4:185471672:A:ACdonor_gain1.0000
4:185471672:A:Tdonor_loss1.0000
4:185471672:AC:Adonor_gain1.0000
4:185471673:C:CCdonor_gain1.0000
4:185471673:C:CTdonor_loss1.0000
4:185471673:CC:Cdonor_gain1.0000
4:185452239:T:Adonor_gain0.9900
4:185460235:TAGG:Tacceptor_gain0.9900
4:185460236:AGGC:Aacceptor_loss0.9900
4:185460237:GG:Gacceptor_gain0.9900
4:185460237:GGC:Gacceptor_loss0.9900
4:185460239:C:CGacceptor_loss0.9900

AlphaMissense

5633 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:185462682:A:CF66L0.986
4:185462682:A:TF66L0.986
4:185462684:A:GF66L0.986
4:185461146:A:GI84T0.985
4:185461146:A:CI84S0.983
4:185462671:C:GR70P0.982
4:185458540:C:GA683P0.975
4:185462704:A:GL59P0.975
4:185458422:A:GL722P0.970
4:185461134:A:GL88S0.969
4:185459223:A:GL455P0.968
4:185461153:A:GS82P0.968
4:185461137:A:GI87T0.967
4:185462678:C:GA68P0.967
4:185462683:A:GF66S0.964
4:185458371:A:GL739P0.963
4:185461137:A:TI87K0.960
4:185462692:A:GL63S0.960
4:185462650:A:TV77D0.958
4:185458434:A:GL718P0.957
4:185459181:A:GL469P0.957
4:185458301:A:CF762L0.956
4:185458301:A:TF762L0.956
4:185458303:A:GF762L0.956
4:185462674:A:GL69S0.956
4:185458528:C:GA687P0.953
4:185462687:A:GS65P0.953
4:185459283:A:GL435P0.952
4:185461146:A:TI84N0.947
4:185461137:A:CI87R0.946

dbSNP variants (sampled 300 via entrez): RS1000005558 (4:185463452 T>C), RS1000028038 (4:185450704 A>G), RS1000275747 (4:185469267 T>G), RS10004061 (4:185467834 T>G), RS1000528250 (4:185450519 C>T), RS1000586835 (4:185445918 C>T), RS1000608136 (4:185468972 C>T), RS1000787840 (4:185469183 G>A), RS1000952180 (4:185450814 TG>T), RS10009945 (4:185450825 A>G), RS1001008312 (4:185464992 A>T), RS1001445207 (4:185464356 C>T), RS1001625633 (4:185447574 A>G), RS1001730974 (4:185466714 T>C,G), RS1001835209 (4:185454420 G>C)

Disease associations

OMIM: gene MIM:609488 | disease phenotypes: MIM:209850

GenCC curated gene-disease

Mondo (3): dilated cardiomyopathy (MONDO:0005021), hypertrophic cardiomyopathy (MONDO:0005045), autism (MONDO:0005260)

Orphanet (2): Rare hypertrophic cardiomyopathy (Orphanet:217569), Dilated cardiomyopathy (Orphanet:217604)

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPOTerm
HP:0001644Dilated cardiomyopathy
HP:0001639Hypertrophic cardiomyopathy
HP:0000717Autism

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

DescriptorNameTree numbers
D001321Autistic DisorderF03.625.164.113.500
D002311Cardiomyopathy, DilatedC14.280.195.160; C14.280.238.070; C16.320.488.750
D002312Cardiomyopathy, HypertrophicC14.280.238.100; C14.280.484.048.750.070.160

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

ChemicalActions (top 5)PubMed papers
sotorasibaffects cotreatment, decreases expression1
methylmercuric chloridedecreases expression1
bisphenol Aaffects cotreatment, decreases methylation1
trichostatin Adecreases expression, increases expression1
sodium arseniteincreases expression1
perfluorooctane sulfonic aciddecreases expression1
CGP 52608affects binding, increases reaction1
trametinibaffects cotreatment, decreases expression1
NVP-BKM120affects cotreatment, decreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Benzo(a)pyreneaffects methylation1
Cannabidiolaffects cotreatment, decreases expression1
Cuprizoneaffects cotreatment, decreases expression1
Estradiolincreases expression1
Melphalandecreases expression1
Oxygenincreases expression1
Valproic Acidincreases expression1
Cyclosporineincreases expression1
Aflatoxin B1increases methylation1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00374465PHASE4UNKNOWNTherapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903PHASE4COMPLETEDStudy of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140PHASE4COMPLETEDA Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149PHASE4COMPLETEDSupramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581PHASE4COMPLETEDCoenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022PHASE4RECRUITINGThe Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00879060PHASE4COMPLETEDClinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967PHASE4COMPLETEDRanolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998PHASE4UNKNOWNEvaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272PHASE4TERMINATEDMicrovascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532PHASE4COMPLETEDEffect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343PHASE4RECRUITINGUse of SGLT2i in noHCM With HFpEF
NCT07103655PHASE4NOT_YET_RECRUITINGThe Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177PHASE4RECRUITINGMavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT00333827PHASE3COMPLETEDCell Therapy In Dilated Cardiomyopathy
NCT00505154PHASE3COMPLETEDEffect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703PHASE3COMPLETEDPUFAs and Left Ventricular Function in Heart Failure
NCT01583114PHASE3TERMINATEDPREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081PHASE3UNKNOWNResveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181PHASE3UNKNOWNContinues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514PHASE3TERMINATEDA Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323PHASE3COMPLETEDMicophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766PHASE3COMPLETEDEffect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257PHASE3RECRUITINGBromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00317967PHASE3COMPLETEDStudy to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074PHASE3UNKNOWNDiastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353PHASE3COMPLETEDAntiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221PHASE3WITHDRAWNEfficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545PHASE3COMPLETEDClinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416PHASE3COMPLETEDA Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658PHASE3ACTIVE_NOT_RECRUITINGEmpagliflozin in Hypertrophic Cardiomyopathy
NCT05186818PHASE3COMPLETEDPhase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346PHASE3COMPLETEDPhase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968PHASE3COMPLETEDAn Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828PHASE3NOT_YET_RECRUITINGEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976PHASE3RECRUITINGA Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341PHASE3ACTIVE_NOT_RECRUITINGA Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT07202897PHASE3NOT_YET_RECRUITINGLA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain.
NCT00629018PHASE2COMPLETEDSafety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096PHASE2COMPLETEDIntracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.