C6orf15

Summary

C6orf15 (chromosome 6 open reading frame 15, HGNC:13927) is a protein-coding gene on chromosome 6p21.33, encoding Uncharacterized protein C6orf15 (Q6UXA7).

Predicted to enable several functions, including collagen V binding activity; fibronectin binding activity; and glycosaminoglycan binding activity. Predicted to be involved in extracellular matrix organization. Predicted to be located in interstitial matrix. Predicted to be active in extracellular matrix.

Source: NCBI Gene 29113 — RefSeq curated summary.

At a glance

• GWAS associations: 64
• Clinical variants (ClinVar): 12 total — 1 pathogenic
• MANE Select transcript: NM_014070

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13927
Approved symbol	C6orf15
Name	chromosome 6 open reading frame 15
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	STG
Ensembl gene	ENSG00000204542
Ensembl biotype	protein_coding
OMIM	611401
Entrez	29113

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000259870

RefSeq mRNA: 1 — MANE Select: NM_014070 NM_014070

CCDS: CCDS4693

Canonical transcript exons

ENST00000259870 — 2 exons

Exon	Start	End
ENSE00001702848	31112489	31112575
ENSE00001910042	31111223	31112291

Expression profiles

Bgee: expression breadth broad, 31 present calls, max score 72.82.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6661 / max 717.3334, expressed in 58 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72631	0.6661	58

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of leg	UBERON:0001511	72.82	gold quality
zone of skin	UBERON:0000014	70.98	gold quality
skin of abdomen	UBERON:0001416	68.60	gold quality
adenohypophysis	UBERON:0002196	52.82	gold quality
pituitary gland	UBERON:0000007	49.11	gold quality
tonsil	UBERON:0002372	42.89	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	42.52	gold quality
minor salivary gland	UBERON:0001830	39.85	gold quality
saliva-secreting gland	UBERON:0001044	39.52	gold quality
bone marrow cell	CL:0002092	38.22	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
endocervix	UBERON:0000458	36.73	gold quality
sural nerve	UBERON:0015488	36.62	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
skeletal muscle tissue	UBERON:0001134	35.51	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
mucosa of transverse colon	UBERON:0004991	35.45	gold quality
thoracic mammary gland	UBERON:0005200	35.43	gold quality
duodenum	UBERON:0002114	34.13	gold quality
bone marrow	UBERON:0002371	32.80	gold quality
placenta	UBERON:0001987	32.73	gold quality
muscle tissue	UBERON:0002385	32.63	gold quality
uterine cervix	UBERON:0000002	32.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
islet of Langerhans	UBERON:0000006	31.45	gold quality
vagina	UBERON:0000996	30.44	gold quality
lymph node	UBERON:0000029	30.22	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting C6orf15, 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-4531	99.99	69.70	3181
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-1296-3P	99.72	64.04	636
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-620	96.94	66.79	888

Literature-anchored findings (GeneRIF, showing 3)

• STG is expressed in taste buds, skin and tonsils, and does not associate with psoriasis in the Swedish population (PMID:15217361)
• C6orf15 acts as a potential novel marker of adverse pathological features and prognosis for colon cancer. (PMID:37054577)
• Differential diagnosis of gastric low- and high grade dysplasia using C6orf15 protein. (PMID:38547762)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	2300002M23Rik	ENSMUSG00000039269
rattus_norvegicus	AABR07044373.1	ENSRNOG00000030676

Protein

Protein identifiers

Uncharacterized protein C6orf15 — Q6UXA7 (reviewed: Q6UXA7)

Alternative names: Protein STG

All UniProt accessions (2): M1T2K5, Q6UXA7

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Binds to numerous extracellular matrix proteins.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Expressed in skin and tonsils.

RefSeq proteins (1): NP_054789* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026135	C6orf15	Family

Pfam: PF15809

UniProt features (16 total): sequence variant 10, region of interest 2, compositionally biased region 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXA7-F1	43.65	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 37 (showing top): MYOD_01, NKX25_01, E12_Q6, SHEN_SMARCA2_TARGETS_DN, XU_GH1_EXOGENOUS_TARGETS_DN, KAN_RESPONSE_TO_ARSENIC_TRIOXIDE, MIKKELSEN_MEF_ICP_WITH_H3K27ME3, NOTCH_DN.V1_UP, KRAS.DF.V1_DN, GOCC_EXTERNAL_ENCAPSULATING_STRUCTURE, MIR302E, MIR302A_3P_MIR302B_3P_MIR302C_3P_MIR302D_3P, MIR520A_3P, MIR372_3P, MIR520D_3P

GO Biological Process (1): extracellular matrix organization (GO:0030198)

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

GO Cellular Component (2): extracellular matrix (GO:0031012), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular structure organization	1
external encapsulating structure organization	1
binding	1
external encapsulating structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1374 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C6orf15	TG	P01266	817
C6orf15	HLA-C	P04222	762
C6orf15	TCF19	Q9Y242	579
C6orf15	PRNP	P04156	548
C6orf15	PSORS1C2	Q9UIG4	506
C6orf15	CCHCR1	Q8TD31	488
C6orf15	PSORS1C1	Q9UIG5	447
C6orf15	RBM8A	Q9Y5S9	437
C6orf15	GNL1	P36915	425
C6orf15	MUC22	E2RYF6	415
C6orf15	GFER	P55789	407
C6orf15	MUC21	Q5SSG8	402
C6orf15	COPA	P53621	399
C6orf15	SEPTIN4	O43236	397
C6orf15	SRI	P30626	394

IntAct

24 interactions, top by confidence:

A	B	Type	Score
C6orf15	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
PROP1	C6orf15	psi-mi:“MI:0915”(physical association)	0.560
VENTX	C6orf15	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-2	C6orf15	psi-mi:“MI:0915”(physical association)	0.560
C6orf15	YTHDF1	psi-mi:“MI:0915”(physical association)	0.560
C6orf15	TIMM8A	psi-mi:“MI:0914”(association)	0.350
C6orf15	NUCB1	psi-mi:“MI:0914”(association)	0.350
C6orf15	UBQLN2	psi-mi:“MI:0915”(physical association)	0.000
PROP1	C6orf15	psi-mi:“MI:0915”(physical association)	0.000
VENTX	C6orf15	psi-mi:“MI:0915”(physical association)	0.000
C6orf15	KRTAP6-2	psi-mi:“MI:0915”(physical association)	0.000
YTHDF1	C6orf15	psi-mi:“MI:0915”(physical association)	0.000
UBQLN2	C6orf15	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (22): C6orf15 (Affinity Capture-Western), SV2B (Affinity Capture-Western), C6orf15 (Two-hybrid), C6orf15 (Two-hybrid), C6orf15 (Two-hybrid), C6orf15 (Two-hybrid), C6orf15 (Two-hybrid), C6orf15 (Synthetic Lethality), MAEA (Affinity Capture-MS), LONP1 (Affinity Capture-MS), TIMM8B (Affinity Capture-MS), MIB2 (Affinity Capture-MS), PSMG2 (Affinity Capture-MS), TIMM13 (Affinity Capture-MS), HSPD1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0J9YXV3, A0A172M4N0, A2VE23, A5PL33, C7EMF5, E7EW31, F1NSM7, I3L273, O15027, O48582, O55189, O55196, O97939, P0C671, P0DV77, P14138, Q14D33, Q1XI13, Q28989, Q3B7M4, Q4R729, Q5R7U0, Q5SWP3, Q62840, Q63003, Q6E0U4, Q6H236, Q6NUN9, Q6UXA7, Q7Z2K8, Q86UU5, Q8BM15, Q8K4E0, Q8K4L6, Q8N1P7, Q8N3D4, Q96D09, Q96JG9, Q9BGL9, Q9D7G9

Diamond homologs: Q1XI13, Q6UXA7, Q8BM15, Q9BGL9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	6
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2446051	Single allele	Pathogenic

SpliceAI

118 predictions. Top by Δscore:

Variant	Effect	Δscore
6:31112428:AATT:A	donor_gain	1.0000
6:31112423:T:A	donor_gain	0.9900
6:31112485:ATACC:A	donor_loss	0.9900
6:31112486:TACCT:T	donor_loss	0.9900
6:31112487:ACC:A	donor_loss	0.9900
6:31112431:T:TA	donor_gain	0.9800
6:31112288:AGGCC:A	acceptor_loss	0.9600
6:31112289:GGCC:G	acceptor_loss	0.9600
6:31112290:GCCT:G	acceptor_loss	0.9600
6:31112291:CCTGA:C	acceptor_loss	0.9600
6:31112292:C:CC	acceptor_gain	0.9600
6:31112292:C:CG	acceptor_loss	0.9600
6:31112293:T:A	acceptor_loss	0.9600
6:31112289:GGC:G	acceptor_gain	0.9400
6:31112287:GAGGC:G	acceptor_gain	0.9200
6:31112290:GC:G	acceptor_gain	0.8700
6:31112291:CC:C	acceptor_gain	0.8700
6:31112416:ACC:A	donor_gain	0.8700
6:31112417:CCC:C	donor_gain	0.8700
6:31112288:AGGC:A	acceptor_gain	0.8000
6:31112406:T:A	donor_gain	0.8000
6:31112411:CCT:C	donor_gain	0.8000
6:31112086:T:TA	donor_gain	0.7800
6:31112418:CCCT:C	donor_gain	0.7800
6:31112505:G:T	donor_gain	0.7800
6:31112438:T:A	donor_gain	0.7700
6:31112487:A:AC	donor_gain	0.7700
6:31112488:C:CC	donor_gain	0.7700
6:31112459:T:TA	donor_gain	0.7500
6:31112292:C:T	acceptor_gain	0.7300

AlphaMissense

2073 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:31111678:C:A	W227C	0.873
6:31111678:C:G	W227C	0.873
6:31112275:G:C	S28R	0.856
6:31112275:G:T	S28R	0.856
6:31112277:T:G	S28R	0.856
6:31112504:A:G	C18R	0.855
6:31111680:A:G	W227R	0.852
6:31111680:A:T	W227R	0.852
6:31111705:C:A	W218C	0.852
6:31111705:C:G	W218C	0.852
6:31111576:C:A	W261C	0.848
6:31111576:C:G	W261C	0.848
6:31111609:C:A	W250C	0.844
6:31111609:C:G	W250C	0.844
6:31111543:C:A	W272C	0.840
6:31111543:C:G	W272C	0.840
6:31111510:C:A	W283C	0.821
6:31111510:C:G	W283C	0.821
6:31112519:C:G	G13R	0.801
6:31111707:A:G	W218R	0.792
6:31111707:A:T	W218R	0.792
6:31112518:C:T	G13D	0.790
6:31111642:C:A	W239C	0.759
6:31111642:C:G	W239C	0.759
6:31111578:A:G	W261R	0.755
6:31111578:A:T	W261R	0.755
6:31112506:A:T	V17D	0.723
6:31111545:A:G	W272R	0.700
6:31111545:A:T	W272R	0.700
6:31111611:A:G	W250R	0.689

dbSNP variants (sampled 300 via entrez): RS1002033998 (6:31113456 A>C,G), RS1003765652 (6:31114460 C>T), RS1003858589 (6:31114414 A>G), RS1004570788 (6:31111154 C>T), RS1004878611 (6:31113115 T>C), RS1004931010 (6:31112853 T>C), RS1007176642 (6:31112764 T>C), RS1008433273 (6:31114019 G>A), RS1008490171 (6:31113819 C>A,T), RS1011242303 (6:31113124 C>T), RS1011332653 (6:31114368 C>T), RS1012029919 (6:31114232 G>A), RS1013710288 (6:31112828 C>T), RS1013968158 (6:31111727 G>T), RS1015336466 (6:31114195 G>T)

Disease associations

OMIM: gene MIM:611401 | disease phenotypes: MIM:270300

GenCC curated gene-disease

Mondo (1): peeling skin syndrome 1 (MONDO:0024548)

Orphanet (2): Generalized peeling skin syndrome (Orphanet:263543), Peeling skin syndrome type B (Orphanet:263553)

HPO phenotypes

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

GWAS associations

64 associations (top):

Study	Trait	p-value
GCST000448_1	Follicular lymphoma	5.000000e-11
GCST000734_1	Follicular lymphoma	7.000000e-06
GCST001137_9	White blood cell count	4.000000e-13
GCST001200_5	Graves’ disease	4.000000e-51
GCST001474_6	Hypothyroidism	1.000000e-08
GCST001779_4	Hematology traits	5.000000e-07
GCST001812_2	Epstein-Barr virus immune response (EBNA-1)	2.000000e-10
GCST002928_23	Nickel levels	5.000000e-06
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_103	Autism spectrum disorder or schizophrenia	2.000000e-08
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_132	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004521_16	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_19	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_2	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_210	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_229	Autism spectrum disorder or schizophrenia	4.000000e-11
GCST004521_257	Autism spectrum disorder or schizophrenia	6.000000e-10
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_27	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_282	Autism spectrum disorder or schizophrenia	5.000000e-09
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_3	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_48	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0009180	rosacea severity measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004918	age at diagnosis
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2233980	Toxicity	3	carboplatin;gemcitabine	Non-Small Cell Lung Carcinoma;Thrombocytopenia

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2233980	C6orf15	3	2.50	1	carboplatin;gemcitabine

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
urushiol	increases expression	1
chlorophyllin	decreases reaction, increases expression	1
sodium arsenate	decreases expression, increases abundance	1
ethyl-p-hydroxybenzoate	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases reaction, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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