C10orf67

gene
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Also known as MGC46732bA215C7.4

Summary

C10orf67 (chromosome 10 open reading frame 67, HGNC:28716) is a protein-coding gene on chromosome 10p12.2, encoding Uncharacterized protein C10orf67, mitochondrial (Q8IYJ2).

Predicted to be located in mitochondrion.

Source: NCBI Gene 256815 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 15 total — 1 pathogenic
  • MANE Select transcript: NM_001371909

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:28716
Approved symbolC10orf67
Namechromosome 10 open reading frame 67
Location10p12.2
Locus typegene with protein product
StatusApproved
AliasesMGC46732, bA215C7.4
Ensembl geneENSG00000179133
Ensembl biotypeprotein_coding
Entrez256815

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

ENST00000323327, ENST00000376500, ENST00000376501, ENST00000636213, ENST00000649478, ENST00000673651, ENST00000892141, ENST00000953961

RefSeq mRNA: 4 — MANE Select: NM_001371909 NM_001351306, NM_001365862, NM_001371909, NM_153714

CCDS: CCDS44365, CCDS91221

Canonical transcript exons

ENST00000636213 — 16 exons

ExonStartEnd
ENSE000010920242332074123320815
ENSE000011808472333306223333182
ENSE000012448642332239423322537
ENSE000014707142326719523267254
ENSE000014707152328201323282078
ENSE000014707162328990023289958
ENSE000014707182329113223291279
ENSE000014707192330330423303459
ENSE000015402472323972923239816
ENSE000037940642320269623204255
ENSE000037950722322374423223818
ENSE000037979352325045523250520
ENSE000037980262325061223250691
ENSE000037989432326626223266426
ENSE000038006652322359823223658
ENSE000038930882334456923344797

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 88.64.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0997 / max 5.3029, expressed in 41 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1086770.084132
1086750.01567

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233688.64gold quality
tendon of biceps brachiiUBERON:000818888.27silver quality
right uterine tubeUBERON:000130282.14gold quality
olfactory segment of nasal mucosaUBERON:000538681.27gold quality
right testisUBERON:000453478.68gold quality
left testisUBERON:000453378.62gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047377.11gold quality
testisUBERON:000047376.85gold quality
bronchial epithelial cellCL:000232873.99gold quality
bronchusUBERON:000218573.14gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450271.25gold quality
nasal cavity mucosaUBERON:000182670.24gold quality
secondary oocyteCL:000065569.88silver quality
parotid glandUBERON:000183169.52gold quality
biceps brachiiUBERON:000150769.30gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451168.52gold quality
gingival epitheliumUBERON:000194968.06gold quality
right lungUBERON:000216768.02gold quality
gingivaUBERON:000182866.96gold quality
upper leg skinUBERON:000426265.52silver quality
pituitary glandUBERON:000000765.44gold quality
myocardiumUBERON:000234965.27gold quality
adenohypophysisUBERON:000219664.58gold quality
nasal cavity epitheliumUBERON:000538463.93gold quality
upper lobe of left lungUBERON:000895263.78gold quality
esophagus squamous epitheliumUBERON:000692062.84gold quality
cartilage tissueUBERON:000241862.68gold quality
endothelial cellCL:000011562.59gold quality
fallopian tubeUBERON:000388962.19gold quality
oviduct epitheliumUBERON:000480461.95silver quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes8.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

62 targeting C10orf67, 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-190A-3P100.0080.355520
HSA-MIR-4692100.0067.322066
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-118499.9968.191458
HSA-MIR-451499.9967.101870
HSA-MIR-96-5P99.9572.802140
HSA-MIR-1213399.9271.822006
HSA-MIR-806399.9169.763146
HSA-MIR-1271-5P99.9171.991972
HSA-MIR-10527-5P99.9172.283754
HSA-MIR-498-3P99.9171.271114
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-6783-3P99.8967.922059
HSA-MIR-1343-3P99.8966.781815
HSA-MIR-7845-5P99.8864.88771
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-149-3P99.7268.223963
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-10394-5P99.6566.831852
HSA-MIR-120599.6566.761826
HSA-MIR-426199.5970.303415
HSA-MIR-141-5P99.5767.86897
HSA-MIR-1212299.5669.331672
HSA-MIR-57399.5567.44955
HSA-MIR-3616-5P99.5567.02989
HSA-MIR-451B99.5568.281380

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriosi:dkey-188g12.1ENSDARG00000076896
mus_musculus4921504E06RikENSMUSG00000026734
rattus_norvegicusC17h10orf67ENSRNOG00000021898

Protein

Protein identifiers

Uncharacterized protein C10orf67, mitochondrialQ8IYJ2 (reviewed: Q8IYJ2)

All UniProt accessions (6): Q8IYJ2, A0A1B0GUT5, A0A3B3IRX4, A0A6E1W0W4, A0A6E2AE84, Q5SXQ8

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with NOD2.

Subcellular location. Mitochondrion.

Isoforms (2)

UniProt IDNamesCanonical?
Q8IYJ2-11yes
Q8IYJ2-22

RefSeq proteins (4): NP_001338235, NP_001352791, NP_001358838, NP_714925 (=MANE)

Domains & families (InterPro)

IDNameType
IPR031651DUF4709Domain
IPR031711DUF4724Domain
IPR040119C10orf67-likeFamily

Pfam: PF15821, PF15852

UniProt features (10 total): region of interest 2, coiled-coil region 2, compositionally biased region 2, splice variant 2, transit peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8IYJ2-F171.370.41

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 29 (showing top): RFX1_02, chr10p12, RYTGCNWTGGNR_UNKNOWN, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_ES_HCP_WITH_H3_UNMETHYLATED, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, KOYAMA_SEMA3B_TARGETS_DN, F10_TARGET_GENES, ZBTB12_TARGET_GENES, ZNF2_TARGET_GENES, MIR759, MIR5007_5P, MIR3667_5P, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS

GO Biological Process (0):

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

GO Cellular Component (1): mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
cytoplasm1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

146 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
C10orf67ARMC3Q5W041441
C10orf67ANXA11P50995400
C10orf67LURAP1LQ8IV03394
C10orf67PRR16Q569H4380
C10orf67CCDC134Q9H6E4370
C10orf67ENTR1Q96C92370
C10orf67FAM117BQ6P1L5351
C10orf67RAB23Q9ULC3311
C10orf67CCDC88BA6NC98307
C10orf67PPP2R3BQ9Y5P8305
C10orf67LDOC1O95751301
C10orf67ANKHD1Q8IWZ3292
C10orf67BTNL2Q9UIR0290
C10orf67OTUD1Q5VV17289
C10orf67RETSATQ6NUM9285

IntAct

14 interactions, top by confidence:

ABTypeScore
NOD2C10orf67psi-mi:“MI:0915”(physical association)0.550
C10orf67NOD2psi-mi:“MI:0915”(physical association)0.550
NOD2C10orf67psi-mi:“MI:2364”(proximity)0.550
BMI1MEIS3P1psi-mi:“MI:0914”(association)0.350
ATF1ESYT2psi-mi:“MI:0914”(association)0.350
ATF3C11orf98psi-mi:“MI:0914”(association)0.350
CASP3C11orf98psi-mi:“MI:0914”(association)0.350
CTNNA1EFCAB5psi-mi:“MI:0914”(association)0.350
FOSMYO1Gpsi-mi:“MI:0914”(association)0.350
GATA2EFCAB5psi-mi:“MI:0914”(association)0.350
C10orf67psi-mi:“MI:0915”(physical association)0.000

BioGRID (17): C10orf67 (Two-hybrid), NOD2 (FRET), C10orf67 (Two-hybrid), C10orf67 (Two-hybrid), C10orf67 (Two-hybrid), C10orf67 (Two-hybrid), C10orf67 (Two-hybrid), C10orf67 (Two-hybrid), C10orf67 (Two-hybrid), C10orf67 (Two-hybrid), C10orf67 (Two-hybrid), C10orf67 (Two-hybrid), C10orf67 (Two-hybrid), TNF (Two-hybrid), RPLP2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1W2P884, A2AM05, A2AUM9, A2BGP7, E1U8D0, O94964, P60853, Q05D60, Q0KK56, Q2M243, Q32LC2, Q3UPP8, Q3V036, Q5PQQ9, Q5PQS2, Q5R9L2, Q5SZL2, Q5U3Z6, Q5U465, Q5U4W1, Q5XJA2, Q6AXZ4, Q6AYB8, Q6DIS8, Q6IPM2, Q6NRK1, Q6NRX3, Q6P2H3, Q6P402, Q6PCQ0, Q70YC5, Q7M6Y5, Q86YF9, Q86Z20, Q8BG89, Q8BMD2, Q8BMK0, Q8BVC4, Q8CFC9, Q8CGZ2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance1
Likely benign0
Benign5

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
2429343NM_001371909.1(C10orf67):c.1570+4090T>CPathogenic

SpliceAI

718 predictions. Top by Δscore:

VariantEffectΔscore
10:23320736:CTCA:Cdonor_loss1.0000
10:23320737:TCA:Tdonor_loss1.0000
10:23320738:CA:Cdonor_loss1.0000
10:23320739:A:ACdonor_gain1.0000
10:23320739:ACCT:Adonor_loss1.0000
10:23320740:C:CAdonor_loss1.0000
10:23320740:C:CCdonor_gain1.0000
10:23320811:TCATT:Tacceptor_gain1.0000
10:23320812:CATT:Cacceptor_gain1.0000
10:23320812:CATTC:Cacceptor_gain1.0000
10:23320813:ATT:Aacceptor_gain1.0000
10:23320813:ATTC:Aacceptor_loss1.0000
10:23320814:TT:Tacceptor_gain1.0000
10:23320815:TCT:Tacceptor_loss1.0000
10:23320816:C:CCacceptor_gain1.0000
10:23320816:C:Tacceptor_loss1.0000
10:23320817:T:Aacceptor_loss1.0000
10:23320823:C:CTacceptor_gain1.0000
10:23320824:A:Tacceptor_gain1.0000
10:23322389:TTTAC:Tdonor_loss1.0000
10:23322390:TTACC:Tdonor_loss1.0000
10:23322391:TAC:Tdonor_loss1.0000
10:23322392:A:ACdonor_gain1.0000
10:23322392:A:Tdonor_loss1.0000
10:23322393:C:Adonor_loss1.0000
10:23322393:C:CCdonor_gain1.0000
10:23322534:TCAT:Tacceptor_gain1.0000
10:23322535:CAT:Cacceptor_gain1.0000
10:23322535:CATC:Cacceptor_gain1.0000
10:23322538:C:CCacceptor_gain1.0000

AlphaMissense

3681 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:23320770:C:GA174P0.999
10:23239784:C:AR461M0.998
10:23239769:C:GR466P0.997
10:23239783:C:AR461S0.997
10:23239783:C:GR461S0.997
10:23239784:C:GR461T0.997
10:23239789:A:CF459L0.997
10:23239789:A:TF459L0.997
10:23239791:A:GF459L0.997
10:23239796:T:AE457V0.997
10:23239801:C:AK455N0.997
10:23239801:C:GK455N0.997
10:23239805:A:GL454P0.997
10:23250464:A:GL447P0.996
10:23239792:C:AM458I0.995
10:23239792:C:GM458I0.995
10:23239792:C:TM458I0.995
10:23320798:T:AR164S0.995
10:23320798:T:GR164S0.995
10:23239805:A:TL454H0.994
10:23289929:C:GA295P0.994
10:23289949:A:GL288P0.994
10:23239785:T:CR461G0.993
10:23282077:A:GL305S0.993
10:23320764:C:GA176P0.993
10:23320778:A:GL171S0.993
10:23239796:T:CE457G0.992
10:23320784:T:GQ169P0.992
10:23333139:C:GD85H0.992
10:23239775:A:GL464P0.991

dbSNP variants (sampled 300 via entrez): RS1000002483 (10:23266310 G>A,T), RS1000018063 (10:23226783 A>G,T), RS1000020202 (10:23293837 G>A,C), RS1000026871 (10:23266717 G>C,T), RS1000035128 (10:23266734 G>A), RS1000052062 (10:23212379 A>G), RS1000063468 (10:23236848 G>C), RS1000080287 (10:23267011 C>T), RS1000089731 (10:23291539 A>T), RS1000155359 (10:23299843 T>C), RS1000164773 (10:23324093 C>T), RS1000216935 (10:23341474 T>A,C), RS1000217573 (10:23214273 A>G), RS1000220582 (10:23247287 A>G), RS1000230238 (10:23272463 T>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:615935, MIM:616720, MIM:125853

GenCC curated gene-disease

Mondo (3): pancreatic agenesis 2 (MONDO:0014406), congenital myasthenic syndrome 19 (MONDO:0014745), type 2 diabetes mellitus (MONDO:0005148)

Orphanet (2): Partial pancreatic agenesis (Orphanet:2805), Congenital myasthenic syndrome (Orphanet:590)

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST000212_1Crohn’s disease and sarcoidosis (combined)4.000000e-06
GCST004867_31Systemic lupus erythematosus7.000000e-06
GCST006979_564Heel bone mineral density4.000000e-12

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0009270heel bone mineral density

MeSH disease descriptors (1)

DescriptorNameTree numbers
D003924Diabetes Mellitus, Type 2C18.452.394.750.149; C19.246.300

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

ChemicalActions (top 5)PubMed papers
Air Pollutantsincreases abundance, increases expression2
propionaldehydeincreases expression1
nickel sulfatedecreases expression1
S-(1,2-dichlorovinyl)cysteinedecreases reaction, increases expression1
Sunitinibdecreases expression1
Arsenicaffects expression1
Benzo(a)pyreneaffects methylation1
Lipopolysaccharidesdecreases reaction, increases expression1
Smokeincreases abundance, increases expression1
Tobacco Smoke Pollutiondecreases expression1
Propofolincreases expression1
Aflatoxin B1increases methylation1
Particulate Matterincreases abundance, increases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00006163PHASE4COMPLETEDComputer-assisted Diabetes Self-management Interventions
NCT00036504PHASE4COMPLETEDEfficacy and Safety of Twice-Daily Insulin Lispro Low Mixture Compared to a Once-Daily Long Acting Insulin Comparator in Patients Who Have Been Using One or More Oral Antihyperglycemic Agents Without Insulin
NCT00044460PHASE4COMPLETEDEfficacy and Safety In Poorly Controlled Type 2 Diabetics
NCT00095446PHASE4COMPLETEDNovoLog Observation Trial in Subjects With Type 1 and Type 2 Diabetes
NCT00101751PHASE4COMPLETEDINITIATE Plus (INITiation of Insulin to Reach A1c TargEt) Study
NCT00110370PHASE4COMPLETEDComparing Pre-Mixed Insulin With Insulin Glargine Combined With Rapid-Acting Insulin in Patients With Type 2 Diabetes
NCT00110448PHASE4COMPLETEDJapanese Primary Prevention of Atherosclerosis With Aspirin for Diabetes (JPAD) Trial
NCT00118950PHASE4COMPLETEDEffect of Metformin Versus Repaglinide Treatment in Non-Obese Type 2 Diabetic Patients Uncontrolled by Diet
NCT00118963PHASE4COMPLETEDEffect of Repaglinide Versus Metformin Treatment in Non-Obese Patients With Type-2-Diabetes
NCT00121966PHASE4COMPLETEDSouth Danish Diabetes Study: Evaluation of the Antidiabetic Treatment of Type 2 Diabetes Mellitus
NCT00123604PHASE4COMPLETEDVascular Effects of Carvedilol Versus Metoprolol in Hypertensive Patients With Type 2 Diabetes
NCT00123643PHASE4COMPLETEDVascular Effects of Rosiglitazone Versus Glyburide in Type 2 Diabetic Patients
NCT00124397PHASE4COMPLETEDAtorvastatin and Endothelial Function in Type 2 Diabetes Mellitus (ATTEND-Study)
NCT00129233PHASE4COMPLETEDComparison of Valsartan With Amlodipine in Hypertensive Patients With Glucose Intolerance
NCT00133718PHASE4COMPLETEDA 2 Year Trial of Patients With Type 2 Diabetes Focusing on Cardiovascular Diagnostics and Metabolic Control
NCT00135070PHASE4TERMINATEDHospital In-Patient Insulin Study
NCT00141232PHASE4COMPLETEDEvaluating Atorvastatin With Omega-3 Fatty Acids in Cardiovascular Risk Reduction in Patients With Type 2 Diabetes
NCT00144144PHASE4UNKNOWNA Study on Ca Blocker Versus AII Antagonists in Hypertension With Type 2 Diabetes
NCT00149331PHASE4COMPLETEDThe Effects of Two Education Strategies About Insulin on Patient Preferences and Perceptions About Insulin Therapy
NCT00162357PHASE4COMPLETEDPost-PCI:Cardiac Imaging in Patients With Diabetes to Detect Coronary Artery Blockages Previously Opened by Angioplasty
NCT00174681PHASE4COMPLETEDTulip Study: Testing the Usefulness of Lantus When Initiated Prematurely In Patients With Type 2 Diabetes
NCT00174824PHASE4COMPLETEDComparison of Insulin Glargine and NPH Human Insulin in Progression of Diabetic Retinopathy in Type 2 Diabetic Patients
NCT00177398PHASE4COMPLETEDEffect of Glargine Insulin on Glucose Control in Hospitalized Patients Who Receive Tube Feedings
NCT00179400PHASE4COMPLETEDThe Role of Acute Combined PPAR Alpha and Gamma Stimulation on Insulin Action in Humans
NCT00184561PHASE4COMPLETEDEffectiveness and Safety of Biphasic Insulin Aspart 70/30 in Subjects With Type 2 Diabetes
NCT00184626PHASE4COMPLETEDComparison of Insulin Glargine Versus Biphasic Insulin Aspart 30/70 or Biphasic Insulin Aspart 30/70 in Combination With Metformin in Subjects With Type 2 Diabetes.
NCT00191178PHASE4COMPLETEDEffects of Insulin in Perceived Mood Symptoms in Patients With Type 2 Diabetes
NCT00191282PHASE4COMPLETEDHyperglycemia and Cardiovascular Outcomes With Type 2 Diabetes
NCT00191464PHASE4COMPLETEDLong-Term Effects of Insulin Plus Metformin Regimens on the Overall and Postprandial Glycemic Control of Patients With Type 2 Diabetes
NCT00192803PHASE4UNKNOWNNon-Insulin Dependent Diabetes Mellitus (NIDDM) and Angiotensin Converting Enzyme 2 (ACE2): Diabetic Patients Treated With Antihypertensive Drugs
NCT00202033PHASE4COMPLETEDImpact of Self-Monitoring Blood Glucose Frequency on Glycemic Control in Patients With Type 2 Diabetes
NCT00205660PHASE4COMPLETEDChanges in Adiposity, Metabolic Measures From Atypicals to Aripiprazole
NCT00212290PHASE4COMPLETEDInsulin Resistance and Central Nervous System (CNS) Function in Type 2 Diabetes
NCT00212303PHASE4COMPLETEDExercise Training in Type 2 Diabetes and Hypertension
NCT00225342PHASE4WITHDRAWNStudy Protocol for Rosiglitazone Versus Gliclazide in Diabetics With Angina
NCT00238472PHASE4COMPLETEDA Pilot Study to Evaluate the Effects of Nateglinide vs. Glibenclamide on Renal Hemodynamics and Albumin Excretion
NCT00239538PHASE4COMPLETEDSMOOTH - Blood Pressure Control in Diabetic/Obese Patients
NCT00240253PHASE4COMPLETEDA Study Evaluating the Efficacy and Safety of Adding Symlin® to Lantus® (Insulin Glargine) in Subjects With Type 2 Diabetes
NCT00240422PHASE4COMPLETEDTrial to Compare the Effects of Either Telmisartan (40-80 mg PO Once Daily) or Ramipril (5-10 mg PO Once Daily) on Renal Endothelial Dysfunction in Hypertensive Patients With Type 2 Diabetes
NCT00241085PHASE4COMPLETEDEffect of Valsartan on Proteinuria in Patients With Hypertension and Diabetes Mellitus