C6orf132

gene
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Also known as bA7K24.2LncCCLM

Summary

C6orf132 (chromosome 6 open reading frame 132, HGNC:21288) is a protein-coding gene on chromosome 6p21.1, encoding Uncharacterized protein C6orf132 (Q5T0Z8).

At a glance

  • Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
  • GWAS associations: 1
  • Clinical variants (ClinVar): 29 total — 1 pathogenic
  • MANE Select transcript: NM_001164446

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21288
Approved symbolC6orf132
Namechromosome 6 open reading frame 132
Location6p21.1
Locus typegene with protein product
StatusApproved
AliasesbA7K24.2, LncCCLM
Ensembl geneENSG00000188112
Ensembl biotypeprotein_coding
OMIM620839
Entrez647024

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000341865, ENST00000356542, ENST00000696229

RefSeq mRNA: 1 — MANE Select: NM_001164446 NM_001164446

CCDS: CCDS47428

Canonical transcript exons

ENST00000341865 — 5 exons

ExonStartEnd
ENSE000014204904212867242128778
ENSE000039665564210111942103878
ENSE000039665584211021642110291
ENSE000039665594214230042142620
ENSE000039665604210446342107583

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 98.15.

FANTOM5 (CAGE): breadth broad, TPM avg 6.0199 / max 189.0808, expressed in 650 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
735985.4187537
735990.4993331
735970.078536
735940.01405
735950.00942

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
lower esophagus mucosaUBERON:003583498.15gold quality
esophagus squamous epitheliumUBERON:000692097.34gold quality
esophagus mucosaUBERON:000246996.15gold quality
pancreatic ductal cellCL:000207995.87gold quality
olfactory segment of nasal mucosaUBERON:000538694.21gold quality
skin of legUBERON:000151192.73gold quality
oral cavityUBERON:000016792.43gold quality
amniotic fluidUBERON:000017392.16gold quality
skin of abdomenUBERON:000141692.05gold quality
zone of skinUBERON:000001491.16gold quality
buccal mucosa cellCL:000233691.09gold quality
gingivaUBERON:000182889.50gold quality
upper arm skinUBERON:000426388.12silver quality
mouth mucosaUBERON:000372988.06gold quality
minor salivary glandUBERON:000183087.73gold quality
gingival epitheliumUBERON:000194987.66gold quality
palpebral conjunctivaUBERON:000181286.33gold quality
vaginaUBERON:000099684.75gold quality
saliva-secreting glandUBERON:000104484.34gold quality
mucosa of transverse colonUBERON:000499184.19gold quality
nasal cavity epitheliumUBERON:000538484.10silver quality
duodenumUBERON:000211483.89gold quality
pharyngeal mucosaUBERON:000035583.72gold quality
body of stomachUBERON:000116182.87gold quality
nippleUBERON:000203082.07gold quality
bronchial epithelial cellCL:000232881.71gold quality
nasal cavity mucosaUBERON:000182681.65gold quality
skin of hipUBERON:000155481.45gold quality
tonsilUBERON:000237281.16gold quality
body of pancreasUBERON:000115081.04gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes13.00
E-MTAB-10596no217.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

60 targeting C6orf132, 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-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-3163100.0077.238605
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-6748-5P100.0065.811057
HSA-MIR-340-5P100.0072.504437
HSA-MIR-23B-5P99.9866.07587
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-314899.9775.066478
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-302E99.9670.742669
HSA-MIR-391099.9571.132227
HSA-MIR-23A-5P99.9465.39468
HSA-MIR-515-5P99.9269.822343
HSA-MIR-519E-5P99.9269.622358
HSA-MIR-4731-5P99.8967.232537
HSA-LET-7A-2-3P99.8770.531921
HSA-MIR-548AR-3P99.8571.263889
HSA-LET-7G-3P99.8570.431929
HSA-MIR-548AZ-3P99.8270.563549
HSA-MIR-548BC99.8270.613524
HSA-MIR-548E-3P99.8270.593514
HSA-MIR-548F-3P99.8270.593540
HSA-MIR-548A-3P99.7670.583524
HSA-MIR-466399.6265.33957
HSA-MIR-1260A99.6166.671098
HSA-MIR-1260B99.6166.671098
HSA-MIR-141-5P99.5767.86897

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusAI661453ENSMUSG00000034382
rattus_norvegicusC9h6orf132ENSRNOG00000015297

Protein

Protein identifiers

Uncharacterized protein C6orf132Q5T0Z8 (reviewed: Q5T0Z8)

All UniProt accessions (1): Q5T0Z8

UniProt curated annotations — full annotation on UniProt →

Isoforms (3)

UniProt IDNamesCanonical?
Q5T0Z8-11yes
Q5T0Z8-22
Q5T0Z8-43

RefSeq proteins (1): NP_001157918* (*=MANE)

Domains & families (InterPro)

UniProt features (39 total): compositionally biased region 16, modified residue 6, sequence conflict 6, region of interest 5, splice variant 4, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5T0Z8-F147.510.03

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 (6): 260, 666, 1044, 1073, 1084, 1157

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 65 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, MARTINEZ_RB1_TARGETS_DN, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, MARTENS_TRETINOIN_RESPONSE_DN, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, CBX7_TARGET_GENES, SRSF9_TARGET_GENES, MIR130A_5P, MIR1294

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

518 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
C6orf132INSYN2BA6NMK8585
C6orf132TTC9Q92623566
C6orf132LRFN2Q9ULH4506
C6orf132C12orf75Q8TAD7469
C6orf132ANXA9O76027419
C6orf132SCELO95171418
C6orf132EPC2Q52LR7409
C6orf132GOLIM4O00461393
C6orf132MYO5CQ9NQX4377
C6orf132MATN2O00339366
C6orf132SERPINB13Q9UIV8365
C6orf132FUCA1P04066364
C6orf132ADAMTS6Q9UKP5338
C6orf132TMPRSS4Q9NRS4327
C6orf132TNFAIP2Q03169297

IntAct

14 interactions, top by confidence:

ABTypeScore
KEAP1C6orf132psi-mi:“MI:0407”(direct interaction)0.440
ESR1ESYT2psi-mi:“MI:0914”(association)0.350
BAIAP2ESPNpsi-mi:“MI:0914”(association)0.350
EZREEF2Kpsi-mi:“MI:2364”(proximity)0.270
CDH1ESYT2psi-mi:“MI:2364”(proximity)0.270
SFNBLTP3Bpsi-mi:“MI:2364”(proximity)0.270
YWHABE2F8psi-mi:“MI:2364”(proximity)0.270
YWHAEE2F8psi-mi:“MI:2364”(proximity)0.270
YWHAHE2F8psi-mi:“MI:2364”(proximity)0.270
YWHAQE2F8psi-mi:“MI:2364”(proximity)0.270
YWHAZE2F8psi-mi:“MI:2364”(proximity)0.270
YWHAGE2F8psi-mi:“MI:2364”(proximity)0.270

BioGRID (28): C6orf132 (Proximity Label-MS), C6orf132 (Affinity Capture-MS), C6orf132 (Proximity Label-MS), C6orf132 (Affinity Capture-MS), C6orf132 (Affinity Capture-MS), C6orf132 (Proximity Label-MS), C6orf132 (Proximity Label-MS), C6orf132 (Proximity Label-MS), C6orf132 (Proximity Label-MS), C6orf132 (Proximity Label-MS), C6orf132 (Proximity Label-MS), C6orf132 (Proximity Label-MS), C6orf132 (Affinity Capture-MS), C6orf132 (Proximity Label-MS), C6orf132 (Proximity Label-MS)

ESM2 similar proteins: A2A7S8, A5D7K1, A5PK23, B1AXH1, F1QGH6, O94885, O95402, Q08495, Q08DM1, Q3T044, Q499V8, Q5HYW2, Q5PQP4, Q5R4B6, Q5R8Q8, Q5SYE7, Q5T0Z8, Q5U2R6, Q6PDH0, Q6PFX7, Q6PGN9, Q6ZVC0, Q7TT28, Q80U35, Q80VC9, Q80Z38, Q86UU1, Q86WR7, Q8BI29, Q8C5R2, Q8CAF4, Q8JZX9, Q8K4J6, Q8N1G1, Q8TF72, Q91Z58, Q969V6, Q96A73, Q9BW04, Q9D0P7

Diamond homologs: Q5T0Z8, Q91Z58

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Activation of BAD and translocation to mitochondria7313.5×3e-15
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex7276.6×4e-15
SARS-CoV-1 targets host intracellular signalling and regulatory pathways7276.6×4e-15
Activation of BH3-only proteins7204.4×4e-14
RHO GTPases activate PKNs7130.6×1e-12
Intrinsic Pathway for Apoptosis7120.6×2e-12
FOXO-mediated transcription598.8×9e-09
Apoptosis879.0×9e-13

GO biological processes:

GO termPartnersFoldFDR
protein targeting5107.8×9e-08
intracellular protein localization743.1×3e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance21
Likely benign4
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
58427GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1Pathogenic

SpliceAI

642 predictions. Top by Δscore:

VariantEffectΔscore
6:42110211:CTTA:Cdonor_loss1.0000
6:42110212:TTACC:Tdonor_loss1.0000
6:42110213:TACC:Tdonor_loss1.0000
6:42110214:A:ACdonor_gain1.0000
6:42110214:AC:Adonor_gain1.0000
6:42110214:ACCT:Adonor_loss1.0000
6:42110215:C:Adonor_loss1.0000
6:42110215:C:CAdonor_gain1.0000
6:42110215:CC:Cdonor_gain1.0000
6:42110215:CCT:Cdonor_gain1.0000
6:42110215:CCTGT:Cdonor_gain1.0000
6:42110288:CATT:Cacceptor_gain1.0000
6:42110290:TT:Tacceptor_gain1.0000
6:42110292:C:CCacceptor_gain1.0000
6:42110292:C:Tacceptor_loss1.0000
6:42110303:C:CTacceptor_gain1.0000
6:42110304:A:Tacceptor_gain1.0000
6:42128668:TCACC:Tdonor_loss1.0000
6:42128670:A:ACdonor_gain1.0000
6:42128670:A:Cdonor_loss1.0000
6:42128671:C:CCdonor_gain1.0000
6:42128671:CCAG:Cdonor_gain1.0000
6:42128775:CCAT:Cacceptor_gain1.0000
6:42128776:CAT:Cacceptor_gain1.0000
6:42128776:CATC:Cacceptor_gain1.0000
6:42128776:CATCT:Cacceptor_loss1.0000
6:42128778:TCT:Tacceptor_loss1.0000
6:42128779:C:Aacceptor_loss1.0000
6:42128779:C:CCacceptor_gain1.0000
6:42128780:T:Gacceptor_loss1.0000

AlphaMissense

7528 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:42142345:A:GW34R0.997
6:42142345:A:TW34R0.997
6:42104936:G:CF992L0.996
6:42104936:G:TF992L0.996
6:42104938:A:GF992L0.996
6:42103833:G:CF1165L0.995
6:42103833:G:TF1165L0.995
6:42103835:A:GF1165L0.995
6:42103834:A:GF1165S0.994
6:42128681:G:CF81L0.993
6:42128681:G:TF81L0.993
6:42128683:A:GF81L0.993
6:42104937:A:GF992S0.991
6:42142343:C:AW34C0.991
6:42142343:C:GW34C0.991
6:42104723:C:AK1063N0.988
6:42104723:C:GK1063N0.988
6:42105387:A:GL842P0.987
6:42105435:T:CH826R0.987
6:42128724:G:TA67D0.986
6:42104937:A:CF992C0.985
6:42105434:G:CH826Q0.985
6:42105434:G:TH826Q0.985
6:42128718:A:GL69P0.985
6:42105378:G:TA845D0.984
6:42128714:T:AK70N0.984
6:42128714:T:GK70N0.984
6:42142400:G:CF15L0.984
6:42142400:G:TF15L0.984
6:42142402:A:GF15L0.984

dbSNP variants (sampled 300 via entrez): RS1000091995 (6:42129205 A>G), RS1000168309 (6:42131768 T>C), RS1000176416 (6:42101556 A>T), RS1000188940 (6:42121238 G>A), RS1000268462 (6:42104892 C>T), RS1000322711 (6:42104675 G>A), RS1000365393 (6:42114741 A>T), RS1000700552 (6:42116219 T>C), RS1000832825 (6:42121518 C>T), RS1000921559 (6:42116480 C>T), RS1000928556 (6:42122826 C>T), RS1000972597 (6:42125116 A>C), RS1001130269 (6:42130251 G>C), RS1001204959 (6:42122504 T>A,C), RS1001272232 (6:42133648 A>G)

Disease associations

OMIM: gene MIM:620839 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
schizophreniaNo Known Disease RelationshipUnknown

Mondo (1): schizophrenia (MONDO:0005090)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST002337_10Amyotrophic lateral sclerosis (sporadic)6.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Estradiolaffects cotreatment, decreases expression, increases expression3
entinostatincreases expression, affects cotreatment2
Arsenicincreases expression, affects methylation, affects cotreatment, increases abundance2
Silicon Dioxidedecreases expression2
Tobacco Smoke Pollutionaffects expression, decreases expression2
Valproic Acidincreases expression, affects expression, affects cotreatment2
aristolochic acid Iincreases expression1
bisphenol Faffects cotreatment, increases methylation1
pyrogallol 1,3-dimethyl etheraffects cotreatment, affects localization, decreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
beta-lapachoneincreases expression1
sulforaphanedecreases expression1
sodium arseniteaffects cotreatment, increases abundance, increases expression1
butyraldehydedecreases expression1
manganese chlorideincreases expression, affects cotreatment, increases abundance1
benzo(e)pyreneincreases methylation1
aflatoxin B2decreases methylation1
nickel sulfatedecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, increases expression1
Resveratrolaffects cotreatment, decreases expression1
Fulvestrantaffects cotreatment, increases methylation1
Allergensincreases expression1
Benzo(a)pyrenedecreases methylation, increases methylation1
Carbamazepineaffects expression1
Copperaffects cotreatment, decreases expression1
Dexamethasoneaffects cotreatment, decreases expression1
Endosulfandecreases expression1
Furaldehydeaffects localization, decreases expression, affects cotreatment1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00000374PHASE4COMPLETEDTreatment for First-Episode Schizophrenia
NCT00001656PHASE4COMPLETEDComparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774PHASE4COMPLETEDTo Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001PHASE4COMPLETEDCATIE- Schizophrenia Trial
NCT00018668PHASE4COMPLETEDAntipsychotic Response in Schizophrenia
NCT00034801PHASE4COMPLETEDOlanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905PHASE4COMPLETEDA Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088PHASE4COMPLETEDOlanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187PHASE4COMPLETEDThe Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655PHASE4COMPLETEDSwitching Medication to Treat Schizophrenia
NCT00048828PHASE4COMPLETEDTreating Drug-Resistant Childhood Schizophrenia
NCT00053703PHASE4COMPLETEDTreatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498PHASE4COMPLETEDRisperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802PHASE4COMPLETEDEfficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327PHASE4COMPLETEDStudy of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049PHASE4COMPLETEDStudy of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012PHASE4COMPLETEDComparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776PHASE4COMPLETEDEfficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571PHASE4COMPLETEDOlanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368PHASE4COMPLETEDThe Effects of Risperidone and Olanzapine on Thinking
NCT00114595PHASE4COMPLETEDEthyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923PHASE4COMPLETEDRisperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020PHASE4COMPLETEDClinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166PHASE4COMPLETEDTreatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847PHASE4COMPLETEDNaltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564PHASE4COMPLETEDEnergy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715PHASE4COMPLETEDEfficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223PHASE4COMPLETEDEffectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081PHASE4COMPLETEDOne Year Drug Treatment in First-Episode Schizophrenia
NCT00159120PHASE4COMPLETEDMaintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133PHASE4COMPLETEDProdrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757PHASE4TERMINATED12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817PHASE4COMPLETEDEffect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026PHASE4TERMINATEDAlcoholism and Schizophrenia: Effects of Clozapine
NCT00169039PHASE4TERMINATEDClozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065PHASE4COMPLETEDEffectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091PHASE4TERMINATEDClozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423PHASE4COMPLETEDEfficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436PHASE4COMPLETEDAtomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008PHASE4COMPLETEDAripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety