C6orf118

Summary

C6orf118 (chromosome 6 open reading frame 118, HGNC:21233) is a protein-coding gene on chromosome 6q27, encoding Uncharacterized protein C6orf118 (Q5T5N4).

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 24 total — 1 pathogenic
• MANE Select transcript: NM_144980

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21233
Approved symbol	C6orf118
Name	chromosome 6 open reading frame 118
Location	6q27
Locus type	gene with protein product
Status	Approved
Aliases	MGC23884, bA85G2.1
Ensembl gene	ENSG00000112539
Ensembl biotype	protein_coding
Entrez	168090

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000230301, ENST00000491176, ENST00000494696

RefSeq mRNA: 1 — MANE Select: NM_144980 NM_144980

CCDS: CCDS5288

Canonical transcript exons

ENST00000230301 — 9 exons

Exon	Start	End
ENSE00000765992	165297977	165298101
ENSE00000765994	165300364	165300486
ENSE00001309412	165299443	165299502
ENSE00001309666	165293413	165293471
ENSE00001319129	165281640	165281693
ENSE00001323222	165309562	165309605
ENSE00001442894	165279664	165280110
ENSE00003530464	165301569	165302296
ENSE00003571332	165289886	165290067

Expression profiles

Bgee: expression breadth ubiquitous, 114 present calls, max score 98.56.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4745 / max 42.8111, expressed in 160 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76615	0.4745	160

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.56	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.18	gold quality
bronchial epithelial cell	CL:0002328	90.62	gold quality
bronchus	UBERON:0002185	88.79	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.65	gold quality
right testis	UBERON:0004534	80.78	gold quality
left testis	UBERON:0004533	80.32	gold quality
ventricular zone	UBERON:0003053	79.38	gold quality
adenohypophysis	UBERON:0002196	78.02	gold quality
testis	UBERON:0000473	77.83	gold quality
fallopian tube	UBERON:0003889	76.30	gold quality
pituitary gland	UBERON:0000007	75.08	gold quality
right lung	UBERON:0002167	74.55	gold quality
mucosa of paranasal sinus	UBERON:0005030	73.35	gold quality
hypothalamus	UBERON:0001898	68.92	gold quality
caudate nucleus	UBERON:0001873	68.07	gold quality
nasal cavity mucosa	UBERON:0001826	67.50	gold quality
buccal mucosa cell	CL:0002336	66.65	gold quality
ganglionic eminence	UBERON:0004023	66.50	gold quality
oviduct epithelium	UBERON:0004804	66.44	gold quality
caput epididymis	UBERON:0004358	65.73	gold quality
amygdala	UBERON:0001876	65.66	gold quality
left uterine tube	UBERON:0001303	65.65	gold quality
nucleus accumbens	UBERON:0001882	65.53	gold quality
cortical plate	UBERON:0005343	60.96	gold quality
Ammon’s horn	UBERON:0001954	60.10	gold quality
endometrium	UBERON:0001295	59.48	gold quality
pancreatic ductal cell	CL:0002079	58.44	silver quality
anterior cingulate cortex	UBERON:0009835	57.63	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	24.87
E-GEOD-130148	yes	11.08
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting C6orf118, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-548AQ-5P	99.94	71.34	3426

Literature-anchored findings (GeneRIF, showing 1)

• Data indicate that an intergenic single nucleotide polymorphisms (SNPs), rs9365798, located downstream of the C6orf118 gene showed the most significant association. (PMID:28355295)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	1700010I14Rik	ENSMUSG00000023873
rattus_norvegicus	MGC94891	ENSRNOG00000011243

Protein

Protein identifiers

Uncharacterized protein C6orf118 — Q5T5N4 (reviewed: Q5T5N4)

All UniProt accessions (1): Q5T5N4

RefSeq proteins (1): NP_659417* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032755	TSNAXIP1_N	Domain

Pfam: PF15739

UniProt features (11 total): sequence variant 6, coiled-coil region 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-Q5T5N4-F1	70.77	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 75 (showing top): GOZGIT_ESR1_TARGETS_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, chr6q27, NOUZOVA_METHYLATED_IN_APL, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_MCV6_LCP_WITH_H3K4ME3, MIKKELSEN_MEF_LCP_WITH_H3K4ME3, MIKKELSEN_IPS_LCP_WITH_H3K4ME3, MIKKELSEN_ES_LCP_WITH_H3K4ME3, BRUINS_UVC_RESPONSE_LATE, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, ZNF10_TARGET_GENES, ZNF708_TARGET_GENES, MIR3646, MIR4495

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

324 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C6orf118	PRR18	Q8N4B5	625
C6orf118	SFT2D1	Q8WV19	593
C6orf118	B9ZVM9	B9ZVM9	542
C6orf118	GARIN3	Q8TC56	507
C6orf118	Q12799	Q12799	447
C6orf118	C6orf120	Q7Z4R8	446
C6orf118	RNASE11	Q8TAA1	446
C6orf118	PACRG	Q96M98	432
C6orf118	WDR27	A2RRH5	431
C6orf118	ERMARD	Q5T6L9	431
C6orf118	UNC93A	Q86WB7	419
C6orf118	TTLL2	Q9BWV7	419
C6orf118	MAP7D3	Q8IWC1	418
C6orf118	ACTL7B	Q9Y614	400
C6orf118	FRMD1	Q8N878	397
C6orf118	KIF25	Q9UIL4	397

IntAct

3 interactions, top by confidence:

A	B	Type	Score
C6orf118	FANCA	psi-mi:“MI:0914”(association)	0.530

BioGRID (10): PCM1 (Affinity Capture-MS), C14orf80 (Affinity Capture-MS), CCDC101 (Affinity Capture-MS), FANCA (Affinity Capture-MS), FANCA (Affinity Capture-MS), PCM1 (Affinity Capture-MS), CCDC101 (Affinity Capture-MS), C14orf80 (Affinity Capture-MS), ISG20L2 (Cross-Linking-MS (XL-MS)), APP (Reconstituted Complex)

ESM2 similar proteins: A2AJB1, A5D8V7, A6QQM8, A7MBH5, A7S8T5, A8E4X8, B0BMJ2, B1H228, D3Z5T1, D6REC4, O60826, P86182, Q1RMI8, Q2M329, Q32KY1, Q32LK9, Q3UX62, Q494V2, Q4R8V8, Q4V8F7, Q4V909, Q571B6, Q5JU67, Q5SPX1, Q5SV66, Q5T5N4, Q5T5S1, Q5XI03, Q5XI65, Q62036, Q6NTM6, Q6NVC9, Q7T0Y4, Q80VN0, Q8BSN3, Q8BVV7, Q8CDV6, Q8N9B5, Q8NA47, Q8TF30

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	14
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
394084	GRCh37/hg19 6q26-27(chr6:163731741-167090237)x1	Pathogenic

SpliceAI

1778 predictions. Top by Δscore:

Variant	Effect	Δscore
6:165280108:CCCC:C	acceptor_loss	1.0000
6:165280108:CCCCT:C	acceptor_gain	1.0000
6:165280109:CC:C	acceptor_gain	1.0000
6:165280109:CCCT:C	acceptor_gain	1.0000
6:165280110:CC:C	acceptor_gain	1.0000
6:165280111:C:CC	acceptor_gain	1.0000
6:165280111:C:T	acceptor_gain	1.0000
6:165280111:CTTAA:C	acceptor_loss	1.0000
6:165280112:T:C	acceptor_gain	1.0000
6:165281479:A:AC	donor_gain	1.0000
6:165281479:ACT:A	donor_gain	1.0000
6:165281480:C:CG	donor_gain	1.0000
6:165281480:CT:C	donor_gain	1.0000
6:165281480:CTC:C	donor_gain	1.0000
6:165281638:A:AC	donor_gain	1.0000
6:165281639:C:CC	donor_gain	1.0000
6:165290074:A:AC	acceptor_gain	1.0000
6:165299354:T:TA	donor_gain	1.0000
6:165300358:TCTTA:T	donor_loss	1.0000
6:165300359:CTTAC:C	donor_loss	1.0000
6:165300360:TTACC:T	donor_loss	1.0000
6:165300361:TACCT:T	donor_loss	1.0000
6:165300362:ACC:A	donor_loss	1.0000
6:165301563:CCTCA:C	donor_loss	1.0000
6:165301564:CTCA:C	donor_loss	1.0000
6:165301565:TCACC:T	donor_loss	1.0000
6:165301566:CACC:C	donor_loss	1.0000
6:165301567:ACC:A	donor_loss	1.0000
6:165301568:CCTG:C	donor_gain	1.0000
6:165302295:CA:C	acceptor_gain	1.0000

AlphaMissense

3071 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:165300364:C:A	K292N	0.955
6:165300364:C:G	K292N	0.955
6:165301659:G:C	F221L	0.955
6:165301659:G:T	F221L	0.955
6:165301661:A:G	F221L	0.955
6:165300377:A:G	L288S	0.951
6:165301986:G:C	F112L	0.928
6:165301986:G:T	F112L	0.928
6:165301988:A:G	F112L	0.928
6:165289992:A:T	I399K	0.925
6:165300388:A:C	F284L	0.921
6:165300388:A:T	F284L	0.921
6:165300390:A:G	F284L	0.921
6:165301576:A:G	L249P	0.918
6:165301660:A:G	F221S	0.917
6:165300418:A:C	F274L	0.914
6:165300418:A:T	F274L	0.914
6:165300420:A:G	F274L	0.914
6:165302082:C:A	W80C	0.914
6:165302082:C:G	W80C	0.914
6:165302007:C:A	M105I	0.913
6:165302007:C:G	M105I	0.913
6:165302007:C:T	M105I	0.913
6:165289992:A:C	I399R	0.904
6:165301935:G:C	F129L	0.903
6:165301935:G:T	F129L	0.903
6:165301937:A:G	F129L	0.903
6:165302084:A:G	W80R	0.903
6:165302084:A:T	W80R	0.903
6:165302131:A:G	L64P	0.903

dbSNP variants (sampled 300 via entrez): RS1000010632 (6:165293819 C>T), RS1000105542 (6:165310893 G>T), RS1000183716 (6:165280785 A>G), RS1000214994 (6:165281080 A>C), RS1000359142 (6:165286443 C>G), RS1000413568 (6:165310604 A>G), RS1000449581 (6:165287258 C>G), RS1000614284 (6:165303040 C>A,T), RS1000960672 (6:165284733 T>A,G), RS1001245652 (6:165308694 G>A), RS1001485150 (6:165300693 T>A), RS1001486209 (6:165286007 A>G,T), RS1001538930 (6:165294702 A>C), RS1001612679 (6:165311112 T>TC), RS1001653458 (6:165294922 A>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

13 associations (top):

Study	Trait	p-value
GCST001523_35	Visceral adipose tissue adjusted for BMI	3.000000e-06
GCST002445_5	Asthma (sex interaction)	2.000000e-07
GCST003538_3	Alcohol dependence symptom count	8.000000e-07
GCST003992_8	Photic sneeze reflex	3.000000e-10
GCST004226_1	Tuberculosis	2.000000e-06
GCST004946_202	Schizophrenia	5.000000e-09
GCST006041_45	Major depressive disorder	6.000000e-06
GCST007094_217	Diastolic blood pressure	4.000000e-08
GCST007433_4	Fulminant type 1 diabetes	9.000000e-06
GCST007565_176	Morning person	1.000000e-13
GCST007576_280	Chronotype	1.000000e-13
GCST008839_464	Height	1.000000e-08
GCST012147_1	Declining hemoglobin trajectory in blood donors	1.000000e-05

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008343	sex interaction measurement
EFO:0007835	alcohol dependence measurement
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0006336	diastolic blood pressure
EFO:0008328	chronotype measurement
EFO:0600027	hemoglobin change measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Diethylhexyl Phthalate	increases methylation, decreases expression, increases abundance	2
sotorasib	affects cotreatment, increases expression	1
methylmercuric chloride	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases methylation, increases abundance	1
bisphenol S	decreases methylation	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Calcitriol	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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