C10orf105

gene
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Also known as FLJ00245

Summary

C10orf105 (chromosome 10 open reading frame 105, HGNC:20304) is a protein-coding gene on chromosome 10q22.1, encoding Uncharacterized protein C10orf105 (Q8TEF2).

Predicted to be located in membrane.

Source: NCBI Gene 414152 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 580 total — 32 pathogenic, 33 likely-pathogenic
  • Phenotypes (HPO): 2
  • MANE Select transcript: NM_001164375

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20304
Approved symbolC10orf105
Namechromosome 10 open reading frame 105
Location10q22.1
Locus typegene with protein product
StatusApproved
AliasesFLJ00245
Ensembl geneENSG00000214688
Ensembl biotypeprotein_coding
Entrez414152

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000398786, ENST00000441508, ENST00000941870

RefSeq mRNA: 2 — MANE Select: NM_001164375 NM_001164375, NM_001168390

CCDS: CCDS44430

Canonical transcript exons

ENST00000441508 — 2 exons

ExonStartEnd
ENSE000016450377171962771719778
ENSE000016525997171170171716342

Expression profiles

Bgee: expression breadth ubiquitous, 107 present calls, max score 80.83.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3650 / max 63.8813, expressed in 96 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter IDTPM avgSamples expressed
1098820.156263
1098800.082348
1098840.042521
1098830.028815
1098810.024016
1098850.01608
1098860.01536

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
quadriceps femorisUBERON:000137780.83gold quality
bloodUBERON:000017878.82gold quality
cerebellar vermisUBERON:000472077.34gold quality
hypothalamusUBERON:000189876.81gold quality
substantia nigraUBERON:000203876.56gold quality
granulocyteCL:000009474.19gold quality
monocyteCL:000057672.55gold quality
leukocyteCL:000073872.54gold quality
amygdalaUBERON:000187671.85gold quality
temporal lobeUBERON:000187171.73gold quality
nucleus accumbensUBERON:000188270.84gold quality
caudate nucleusUBERON:000187370.69gold quality
Ammon’s hornUBERON:000195469.65gold quality
spleenUBERON:000210666.18gold quality
spinal cordUBERON:000224065.20gold quality
C1 segment of cervical spinal cordUBERON:000646965.12gold quality
ventricular zoneUBERON:000305361.49gold quality
putamenUBERON:000187460.35gold quality
thymusUBERON:000237059.91silver quality
anterior cingulate cortexUBERON:000983559.27gold quality
bone marrow cellCL:000209258.75gold quality
Brodmann (1909) area 9UBERON:001354058.52gold quality
lymph nodeUBERON:000002958.49gold quality
brainUBERON:000095558.26gold quality
vermiform appendixUBERON:000115458.22gold quality
cerebral cortexUBERON:000095657.23gold quality
bone marrowUBERON:000237156.54silver quality
right lungUBERON:000216756.49gold quality
right frontal lobeUBERON:000281056.47gold quality
dorsolateral prefrontal cortexUBERON:000983455.89gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no1.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

142 targeting C10orf105, 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-5193100.0067.261744
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-6127100.0066.762188
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-4455100.0065.481587
HSA-MIR-4510100.0066.602050
HSA-MIR-6129100.0066.462080
HSA-MIR-6130100.0066.692012
HSA-MIR-6133100.0066.482064
HSA-MIR-4692100.0067.322066
HSA-MIR-4533100.0069.482758
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-6748-5P100.0065.811057
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-1212199.9966.64255
HSA-MIR-451499.9967.101870
HSA-MIR-118499.9968.191458
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-426799.9666.532368
HSA-MIR-96-5P99.9572.802140
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-539-5P99.9370.302855
HSA-MIR-345-3P99.8970.231421
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-449299.8768.253611
HSA-MIR-1211999.8768.351653
HSA-MIR-182-5P99.8774.032589
HSA-MIR-444799.8567.812900
HSA-MIR-4728-5P99.8569.394718

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusGm17455ENSMUSG00000090439
rattus_norvegicusGm17455ENSRNOG00000074800

Protein

Protein identifiers

Uncharacterized protein C10orf105Q8TEF2 (reviewed: Q8TEF2)

All UniProt accessions (1): Q8TEF2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (2): NP_001157847, NP_001161862 (=MANE)

Domains & families (InterPro)

IDNameType
IPR039954DUF5527Family

Pfam: PF17665

UniProt features (5 total): chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8TEF2-F163.460.13

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 21 (showing top): MIR4319, MIR4441, MIR6764_5P, MIR486_3P, MIR4270, MIR5193, MIR6754_5P, MIR1266_5P, MIR4518, MIR3922_5P, MIR7976, MIR4254, MIR3162_5P, MIR6827_5P, MIR4764_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure1

Protein interactions and networks

STRING

52 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
C10orf105EGFL8Q99944582
C10orf105RNF39Q9H2S5578
C10orf105PPT2Q9UMR5514
C10orf105VSIG8P0DPA2419
C10orf105CDH23Q9H251400
C10orf105FRMD4BQ9Y2L6323
C10orf105PRDM16Q9HAZ2305
C10orf105PLAAT4Q9UL19248
C10orf105PROX2Q3B8N5230
C10orf105ZNF714Q96N38223
C10orf105ERICH1Q86X53220
C10orf105ADARB2Q9NS39220
C10orf105TMEM205Q6UW68202
C10orf105STK32CQ86UX6200
C10orf105TOMM40LQ969M1188

IntAct

0 interactions, top by confidence:

BioGRID (1): C10orf105 (Negative Genetic)

ESM2 similar proteins: A0A1B0GU29, A6NLX4, A6QNY1, A9CBA0, B7ZWI3, O14669, O88472, P14784, P16297, P25918, P26896, Q0VFL4, Q13651, Q32M26, Q38J84, Q38J85, Q3SYS8, Q58CT8, Q5BK39, Q5EAA5, Q5HZE8, Q5NCP0, Q5RCL0, Q64322, Q68DV7, Q6AXS2, Q6AXU5, Q6NUJ2, Q6UWV7, Q86UW2, Q8BHB3, Q8BLR5, Q8BSU2, Q8C353, Q8C708, Q8K1T1, Q8MII8, Q8N6P7, Q8NET5, Q8R182

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic32
Likely pathogenic33
Uncertain significance200
Likely benign238
Benign25

Top pathogenic / likely-pathogenic (30)

Variant IDHGVSClassification
1068856NM_022124.6(CDH23):c.3457del (p.His1153fs)Pathogenic
1071393NC_000010.10:g.(?73199579)(73501688_?)delPathogenic
1073637NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter)Pathogenic
1076540NM_022124.6(CDH23):c.3651del (p.Leu1218fs)Pathogenic
1185587NM_022124.6(CDH23):c.3353del (p.Gly1118fs)Pathogenic
1378730NM_022124.6(CDH23):c.3375del (p.Ala1126fs)Pathogenic
1458297NM_022124.6(CDH23):c.3713_3714del (p.Ser1238fs)Pathogenic
1459529NC_000010.10:g.(?73381150)(73553170_?)delPathogenic
1687244NM_022124.6(CDH23):c.3431-1G>APathogenic
179348NM_022124.5(CDH23):c.(?3716)(4146_?)delPathogenic
2012237NM_022124.6(CDH23):c.3762del (p.Lys1255fs)Pathogenic
2136882NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)Pathogenic
2763587NM_022124.6(CDH23):c.3541_3559del (p.Tyr1181fs)Pathogenic
2819985NM_022124.6(CDH23):c.3321T>A (p.Tyr1107Ter)Pathogenic
2834492NM_022124.6(CDH23):c.3950dup (p.Tyr1318fs)Pathogenic
2851838NM_022124.6(CDH23):c.3413G>A (p.Trp1138Ter)Pathogenic
3245004NC_000010.10:g.(?73483792)(73490371_?)delPathogenic
3245009NC_000010.10:g.(?73494902)(73501606_?)delPathogenic
3250301NM_022124.6(CDH23):c.3715+2T>APathogenic
3601266NM_022124.6(CDH23):c.3715+1G>CPathogenic
3601277NM_022124.6(CDH23):c.3801del (p.Thr1267_Val1268insTer)Pathogenic
3632396NM_022124.6(CDH23):c.4124del (p.Gly1375fs)Pathogenic
3642098NM_022124.6(CDH23):c.3322G>T (p.Glu1108Ter)Pathogenic
4055753NM_022124.6(CDH23):c.3367C>T (p.Gln1123Ter)Pathogenic
45920NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)Pathogenic
45926NM_022124.6(CDH23):c.3628C>T (p.Gln1210Ter)Pathogenic
4921NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)Pathogenic
521399NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)Pathogenic
560433NM_022124.6(CDH23):c.3428dup (p.His1143fs)Pathogenic
595857NM_022124.6(CDH23):c.3221-2A>GPathogenic

SpliceAI

1963 predictions. Top by Δscore:

VariantEffectΔscore
10:71712654:A:AGacceptor_gain1.0000
10:71712655:A:Gacceptor_gain1.0000
10:71712660:CACA:Cacceptor_loss1.0000
10:71712662:CAG:Cacceptor_loss1.0000
10:71712663:A:AGacceptor_gain1.0000
10:71712663:AG:Aacceptor_loss1.0000
10:71712664:G:GAacceptor_gain1.0000
10:71712664:GA:Gacceptor_gain1.0000
10:71712664:GAC:Gacceptor_gain1.0000
10:71712664:GACA:Gacceptor_gain1.0000
10:71712664:GACAA:Gacceptor_gain1.0000
10:71724102:CATGG:Cdonor_loss1.0000
10:71724104:TGG:Tdonor_loss1.0000
10:71724105:GGTA:Gdonor_loss1.0000
10:71724106:G:GGdonor_gain1.0000
10:71724106:GT:Gdonor_loss1.0000
10:71724107:T:TCdonor_loss1.0000
10:71725519:GG:Gdonor_gain1.0000
10:71725520:GG:Gdonor_gain1.0000
10:71730468:GGT:Gacceptor_gain1.0000
10:71730581:TCC:Tdonor_gain1.0000
10:71731753:T:TAacceptor_gain1.0000
10:71731754:G:Aacceptor_gain1.0000
10:71732373:ACGGT:Adonor_loss1.0000
10:71732374:CGGTG:Cdonor_loss1.0000
10:71732376:G:GCdonor_loss1.0000
10:71732376:G:GGdonor_gain1.0000
10:71732377:T:Adonor_loss1.0000
10:71734625:A:AGacceptor_gain1.0000
10:71712656:C:Gacceptor_gain0.9900

AlphaMissense

861 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:71716184:A:GC52R0.954
10:71716065:C:AK91N0.936
10:71716065:C:GK91N0.936
10:71716208:A:GC44R0.935
10:71716068:C:AW90C0.925
10:71716068:C:GW90C0.925
10:71716070:A:GW90R0.897
10:71716070:A:TW90R0.897
10:71716066:T:GK91T0.880
10:71716066:T:AK91M0.864
10:71716069:C:GW90S0.849
10:71716198:A:CL47R0.832
10:71716195:A:CL48R0.821
10:71716067:T:CK91E0.812
10:71716200:G:CF46L0.796
10:71716200:G:TF46L0.796
10:71716202:A:GF46L0.796
10:71716173:G:CF55L0.790
10:71716173:G:TF55L0.790
10:71716175:A:GF55L0.790
10:71716078:A:TL87H0.788
10:71716192:A:CL49R0.784
10:71716069:C:AW90L0.780
10:71715940:A:TM133K0.777
10:71715940:A:GM133T0.773
10:71716029:G:CF103L0.767
10:71716029:G:TF103L0.767
10:71716031:A:GF103L0.767
10:71716198:A:TL47H0.766
10:71716113:C:AM75I0.753

dbSNP variants (sampled 300 via entrez): RS1000050253 (10:71736681 C>T), RS1000125623 (10:71726383 G>A,C), RS1000205935 (10:71722370 C>T), RS1000319008 (10:71723584 A>G,T), RS1000350229 (10:71723738 C>T), RS1000430346 (10:71738157 G>C), RS1000546189 (10:71739563 G>A,C), RS1000651671 (10:71735574 G>A,T), RS1000653855 (10:71724747 T>C), RS1000686216 (10:71726877 C>G), RS1001009449 (10:71714182 A>G), RS1001204472 (10:71721832 G>A), RS1001232752 (10:71728167 C>G), RS1001256821 (10:71722109 A>G), RS1001513019 (10:71716753 C>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:601067, MIM:617540, MIM:601386, MIM:128600, MIM:220290, MIM:607197, MIM:276900, MIM:120970, MIM:500004, MIM:156000

GenCC curated gene-disease

Mondo (15): Usher syndrome type 1D (MONDO:0010984), Usher syndrome type 1 (MONDO:0010168), pituitary adenoma 5, multiple types (MONDO:0054601), autosomal recessive nonsyndromic hearing loss 12 (MONDO:0011067), ear malformation (MONDO:0007500), hearing loss, autosomal recessive (MONDO:0019588), Usher syndrome (MONDO:0019501), inherited retinal dystrophy (MONDO:0019118), cone-rod dystrophy (MONDO:0015993), optic atrophy (MONDO:0003608), hearing loss disorder (MONDO:0005365), retinitis pigmentosa-deafness syndrome (MONDO:0010775), Meniere disease (MONDO:0007972), intellectual disability (MONDO:0001071), vitreoretinal degeneration (MONDO:0020248)

Orphanet (10): Usher syndrome type 1 (Orphanet:231169), Usher syndrome (Orphanet:886), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Rare genetic deafness (Orphanet:96210), Cone rod dystrophy (Orphanet:1872), NON RARE IN EUROPE: Menière disease (Orphanet:45360), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), OBSOLETE: Vitreoretinal degeneration (Orphanet:98670)

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPOTerm
HP:0000556Retinal dystrophy
HP:0007964Degenerative vitreoretinopathy

GWAS associations

0 associations (top):

MeSH disease descriptors (9)

DescriptorNameTree numbers
D000071700Cone-Rod DystrophiesC11.270.152; C11.768.585.658.250; C16.320.290.152
D034381Hearing LossC09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D008607Intellectual DisabilityC10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008575Meniere DiseaseC09.218.568.217.500
D009896Optic AtrophyC10.292.700.225; C11.640.451
D058499Retinal DystrophiesC11.768.585.658
D052245Usher SyndromesC09.218.458.341.186.500.500; C09.218.458.341.887.886; C10.597.751.418.341.186.500.500; C10.597.751.418.341.887.886; C10.597.751.941.162.625.500; C11.768.585.658.500.813; C11.966.075.375.500; C16.131.077.299.500; C16.320.290.684.500; C23.888.592.763.393.341.887.886
C564609Deafness, Autosomal Recessive (supp.)
C563327Deafness, Autosomal Recessive 12 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

ChemicalActions (top 5)PubMed papers
triphenyl phosphateaffects expression1
ethyl-p-hydroxybenzoatedecreases expression1
bisphenol Sdecreases methylation1
Resveratrolaffects cotreatment, decreases expression1
Benzo(a)pyreneaffects methylation1
Copperdecreases expression, affects cotreatment1
Valproic Acidincreases methylation1
Cadmium Chloridedecreases expression1
Permethrindecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00205881PHASE4COMPLETEDBilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539PHASE4UNKNOWNRelationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307PHASE4UNKNOWNBilateral Cochlear Implant Benefit in Young Children
NCT00765635PHASE4COMPLETEDChlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006PHASE4COMPLETEDTreating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT07290530PHASE3NOT_YET_RECRUITING24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT04224207PHASE3COMPLETEDManagement of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855PHASE3NOT_YET_RECRUITINGA Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT01499901PHASE3WITHDRAWNComparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091PHASE3COMPLETEDAM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627PHASE3COMPLETEDSafety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657PHASE3ACTIVE_NOT_RECRUITINGACHIEVE Brain Health Follow-Up Study
NCT02065011PHASE2ACTIVE_NOT_RECRUITINGA Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B
NCT03763227PHASE2COMPLETEDIntravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207PHASE2COMPLETEDMinocycline Treatment in Retinitis Pigmentosa
NCT04945772PHASE2COMPLETEDEfficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT01773278PHASE2RECRUITINGCholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT00013455PHASE2COMPLETEDQuantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427PHASE2COMPLETEDClinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786PHASE2COMPLETEDAntioxidation Medication for Noise-induced Hearing Loss
NCT00802425PHASE2COMPLETEDEfficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281PHASE2COMPLETEDThe Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853PHASE2UNKNOWNSPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925PHASE2COMPLETEDHearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT02832128PHASE2COMPLETEDEvaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183PHASE2RECRUITINGAtorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773PHASE2COMPLETEDEvaluation of the Presence of SENS-401 in the Perilymph
NCT06340633PHASE2RECRUITINGSPI-1005 in Adults Receiving Cochlear Implant
NCT05902962PHASE1COMPLETEDSAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872PHASE1RECRUITINGThe Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826PHASE1COMPLETEDMAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT01064505PHASE1COMPLETEDSafety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
NCT05147701PHASE1RECRUITINGSafety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION
NCT00582946PHASE1COMPLETEDWide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155PHASE1WITHDRAWNProtection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829PHASE1UNKNOWNHearing Impairment, Cognitive Therapy and Coping
NCT01256229PHASE1COMPLETEDOutcomes In Children With Developmental Delay And Deafness
NCT01343394PHASE1WITHDRAWNSafety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607PHASE1COMPLETEDStudy to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595PHASE1COMPLETEDStudy to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC