C10orf120

Summary

C10orf120 (chromosome 10 open reading frame 120, HGNC:25707) is a protein-coding gene on chromosome 10q26.13, encoding Uncharacterized protein C10orf120 (Q5SQS8). Dispensable for normal development and fertility.

At a glance

• Clinical variants (ClinVar): 6 total
• MANE Select transcript: NM_001010912

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25707
Approved symbol	C10orf120
Name	chromosome 10 open reading frame 120
Location	10q26.13
Locus type	gene with protein product
Status	Approved
Aliases	bA318C4.1
Ensembl gene	ENSG00000183559
Ensembl biotype	protein_coding
Entrez	399814

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000329446, ENST00000432000

RefSeq mRNA: 1 — MANE Select: NM_001010912 NM_001010912

CCDS: CCDS31302

Canonical transcript exons

ENST00000329446 — 3 exons

Exon	Start	End
ENSE00001325130	122699337	122699412
ENSE00001329867	122697709	122698488
ENSE00001902648	122699615	122699846

Expression profiles

Bgee: expression breadth broad, 28 present calls, max score 89.90.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0330 / max 25.3399, expressed in 3 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111761	0.0185	3
111760	0.0079	3
206019	0.0066	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.90	gold quality
left testis	UBERON:0004533	87.26	gold quality
testis	UBERON:0000473	86.92	gold quality
right testis	UBERON:0004534	86.59	gold quality
body of pancreas	UBERON:0001150	40.65	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
pancreas	UBERON:0001264	35.89	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
prefrontal cortex	UBERON:0000451	32.33	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
body of stomach	UBERON:0001161	31.42	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stomach	UBERON:0000945	30.66	gold quality
urinary bladder	UBERON:0001255	30.60	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
monocyte	CL:0000576	29.39	gold quality
leukocyte	CL:0000738	29.22	gold quality
liver	UBERON:0002107	28.92	gold quality
duodenum	UBERON:0002114	28.14	gold quality
frontal cortex	UBERON:0001870	27.77	gold quality
superior frontal gyrus	UBERON:0002661	27.67	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• C9orf131 and C10orf120 are not essential for male fertility in humans or mice. (PMID:36871790)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	btbd16	ENSDARG00000027710
mus_musculus	4933402N03Rik	ENSMUSG00000013668
rattus_norvegicus	C1h10orf120	ENSRNOG00000022900
drosophila_melanogaster	gcl	FBGN0005695
caenorhabditis_elegans		WBGENE00013382

Paralogs (3): GMCL1 (ENSG00000087338), BTBD16 (ENSG00000138152), GMCL2 (ENSG00000244234)

Protein

Protein identifiers

Uncharacterized protein C10orf120 — Q5SQS8 (reviewed: Q5SQS8)

All UniProt accessions (2): H0Y758, Q5SQS8

UniProt curated annotations — full annotation on UniProt →

Function. Dispensable for normal development and fertility.

RefSeq proteins (1): NP_001010912* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040721	DUF5520	Family

Pfam: PF17658

UniProt features (5 total): sequence variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SQS8-F1	59.11	0.14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 16 (showing top): ZWANG_CLASS_1_TRANSIENTLY_INDUCED_BY_EGF, GSE13522_WT_VS_IFNG_KO_SKIN_UP, GSE13522_CTRL_VS_T_CRUZI_BRAZIL_STRAIN_INF_SKIN_DN, ID2_TARGET_GENES, SOX3_TARGET_GENES, GSE2197_CPG_DNA_VS_UNTREATED_IN_DC_DN, GSE27786_LSK_VS_CD8_TCELL_DN, GSE30962_PRIMARY_VS_SECONDARY_ACUTE_LCMV_INF_CD8_TCELL_DN, GSE32423_MEMORY_VS_NAIVE_CD8_TCELL_UP, GSE2128_C57BL6_VS_NOD_THYMOCYTE_MIMETOPE_NEGATIVE_SELECTION_UP, MCCABE_BOUND_BY_HOXC6, GSE13547_CTRL_VS_ANTI_IGM_STIM_ZFX_KO_BCELL_12H_UP, GSE22432_MULTIPOTENT_PROGENITOR_VS_PDC_UP, GSE25088_CTRL_VS_ROSIGLITAZONE_STIM_STAT6_KO_MACROPHAGE_DN, chr10q26

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:

Category	Terms
binding	1

Protein interactions and networks

STRING

94 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C10orf120	C2orf92	A0A1B0GVN3	815
C10orf120	C5orf47	Q569G3	671
C10orf120	CCDC27	Q2M243	644
C10orf120	SAXO1	Q8IYX7	615
C10orf120	C10orf53	Q8N6V4	607
C10orf120	SPMIP4	Q8N865	606
C10orf120	TRIM42	Q8IWZ5	571
C10orf120	C7orf57	Q8NEG2	571
C10orf120	PPP1R36	Q96LQ0	570
C10orf120	LYPD4	Q6UWN0	557
C10orf120	ZPLD1	Q8TCW7	520
C10orf120	CBY2	Q8NA61	520
C10orf120	DMRTC2	Q8IXT2	513
C10orf120	TGIF2LX	Q8IUE1	512
C10orf120	CFAP299	Q6V702	507

IntAct

6 interactions, top by confidence:

A	B	Type	Score
C10orf120	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
C10orf120	RPL35	psi-mi:“MI:0915”(physical association)	0.400
C10orf120	CBX6	psi-mi:“MI:0914”(association)	0.350
C10orf120	MEOX2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (4): C10orf120 (Two-hybrid), C10orf120 (Proximity Label-MS), CBX6 (Affinity Capture-MS), HAL (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVB3, A0A1B0GVH6, A2RRY8, A4IGV6, A6NHR8, B3DHS1, E1B9I5, O74317, O95561, P03319, P03320, P0C9Z5, P0C9Z6, P10260, P36353, P40744, P40745, Q06616, Q09280, Q09424, Q2KIL1, Q2KIR0, Q32KT7, Q32LB6, Q3T028, Q3TTI8, Q496A3, Q5NC83, Q5SQS8, Q5XIU7, Q68FQ8, Q6DFB0, Q6ZNM6, Q6ZV65, Q811V6, Q8IWA6, Q8N9R6, Q8R0E5, Q8TAL5, Q8WTQ4

Diamond homologs: Q32KT7, Q5SQS8, Q8CDT9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

207 predictions. Top by Δscore:

Variant	Effect	Δscore
10:122699335:A:AC	donor_gain	1.0000
10:122699336:C:CC	donor_gain	1.0000
10:122699613:A:AC	donor_gain	1.0000
10:122699614:C:CC	donor_gain	1.0000
10:122699330:CACTT:C	donor_loss	0.9900
10:122699331:ACTT:A	donor_loss	0.9900
10:122699332:CT:C	donor_loss	0.9900
10:122699333:TTA:T	donor_loss	0.9900
10:122699334:T:TC	donor_loss	0.9900
10:122699335:A:T	donor_loss	0.9900
10:122699336:C:A	donor_loss	0.9900
10:122699336:CT:C	donor_gain	0.9900
10:122699336:CTA:C	donor_gain	0.9900
10:122699336:CTAG:C	donor_gain	0.9900
10:122699336:CTAGG:C	donor_gain	0.9900
10:122699409:TATC:T	acceptor_gain	0.9900
10:122699411:TC:T	acceptor_gain	0.9900
10:122699411:TCC:T	acceptor_loss	0.9900
10:122699412:CC:C	acceptor_gain	0.9900
10:122699412:CCT:C	acceptor_loss	0.9900
10:122699413:C:CC	acceptor_gain	0.9900
10:122699413:CTG:C	acceptor_loss	0.9900
10:122699414:T:A	acceptor_loss	0.9900
10:122699609:ACTC:A	donor_loss	0.9900
10:122699610:CT:C	donor_loss	0.9900
10:122699611:TCA:T	donor_loss	0.9900
10:122699612:CACCG:C	donor_loss	0.9900
10:122699613:A:T	donor_loss	0.9900
10:122699636:AGAT:A	donor_gain	0.9900
10:122699329:ACAC:A	donor_loss	0.9800

AlphaMissense

2221 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:122698000:G:C	F247L	0.967
10:122698000:G:T	F247L	0.967
10:122698002:A:G	F247L	0.967
10:122697871:G:C	F290L	0.961
10:122697871:G:T	F290L	0.961
10:122697873:A:G	F290L	0.961
10:122699349:T:A	E80D	0.953
10:122699349:T:G	E80D	0.953
10:122699350:T:A	E80V	0.946
10:122698469:G:A	T91I	0.926
10:122698001:A:G	F247S	0.924
10:122698314:A:G	W143R	0.914
10:122698314:A:T	W143R	0.914
10:122698481:C:A	G87V	0.908
10:122698308:C:G	A145P	0.905
10:122699341:A:G	I83T	0.902
10:122698312:C:A	W143C	0.900
10:122698312:C:G	W143C	0.900
10:122698231:C:A	R170S	0.886
10:122698231:C:G	R170S	0.886
10:122699341:A:C	I83S	0.886
10:122699380:C:G	R70P	0.885
10:122699386:T:C	D68G	0.885
10:122697863:T:G	D293A	0.878
10:122698438:C:A	K101N	0.878
10:122698438:C:G	K101N	0.878
10:122697872:A:G	F290S	0.875
10:122697863:T:C	D293G	0.871
10:122697862:G:C	D293E	0.869
10:122697862:G:T	D293E	0.869

dbSNP variants (sampled 300 via entrez): RS1001974937 (10:122697229 G>T), RS1002668025 (10:122700392 T>C), RS1002768496 (10:122697423 A>T), RS1002940989 (10:122700100 C>T), RS1003367808 (10:122698703 A>T), RS1003534305 (10:122701505 A>G), RS1004076538 (10:122701754 A>G), RS1004347983 (10:122700783 A>G), RS1005870354 (10:122697546 G>A), RS1006008378 (10:122697831 G>A), RS1008716344 (10:122699104 G>A,T), RS1008735087 (10:122699197 C>A), RS1009266765 (10:122699416 C>G,T), RS1010612202 (10:122698445 G>A), RS1012766466 (10:122700052 C>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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