C17orf67

Summary

C17orf67 (chromosome 17 open reading frame 67, HGNC:27900) is a protein-coding gene on chromosome 17q22, encoding Uncharacterized protein C17orf67 (Q0P5P2).

Predicted to be located in extracellular region.

Source: NCBI Gene 339210 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_001085430

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27900
Approved symbol	C17orf67
Name	chromosome 17 open reading frame 67
Location	17q22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000214226
Ensembl biotype	protein_coding
Entrez	339210

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 20 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000397861, ENST00000487705, ENST00000570754, ENST00000870326, ENST00000870327, ENST00000870328, ENST00000870329, ENST00000870330, ENST00000870331, ENST00000870332, ENST00000870333, ENST00000870334, ENST00000870335, ENST00000870336, ENST00000870337, ENST00000870338, ENST00000870339, ENST00000870340, ENST00000870341, ENST00000939699, ENST00000971316, ENST00000971317

RefSeq mRNA: 1 — MANE Select: NM_001085430 NM_001085430

CCDS: CCDS42364

Canonical transcript exons

ENST00000397861 — 8 exons

Exon	Start	End
ENSE00001530502	56833618	56833920
ENSE00001530504	56795044	56795180
ENSE00001530505	56814869	56814969
ENSE00001530507	56815756	56816010
ENSE00001530509	56824739	56824853
ENSE00001530510	56825081	56825321
ENSE00001530512	56832898	56833342
ENSE00001929077	56791913	56792352

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 85.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.3744 / max 49.1111, expressed in 1616 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167109	2.8396	1345
167110	1.4023	862
167108	0.0844	28
167105	0.0132	5
167104	0.0120	3
167106	0.0102	5
167098	0.0092	5
167107	0.0035	2

Top tissues by expression

241 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	85.31	gold quality
kidney epithelium	UBERON:0004819	84.77	gold quality
upper arm skin	UBERON:0004263	83.06	gold quality
pancreatic ductal cell	CL:0002079	82.88	silver quality
gingival epithelium	UBERON:0001949	82.73	gold quality
thymus	UBERON:0002370	80.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.73	gold quality
mucosa of paranasal sinus	UBERON:0005030	79.00	gold quality
gingiva	UBERON:0001828	78.40	gold quality
epithelial cell of pancreas	CL:0000083	76.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	76.45	gold quality
superficial temporal artery	UBERON:0001614	76.19	gold quality
left ventricle myocardium	UBERON:0006566	76.13	gold quality
cardia of stomach	UBERON:0001162	75.43	silver quality
vena cava	UBERON:0004087	75.28	gold quality
subthalamic nucleus	UBERON:0001906	75.26	gold quality
cerebellar vermis	UBERON:0004720	75.24	gold quality
pons	UBERON:0000988	75.08	gold quality
tibialis anterior	UBERON:0001385	74.78	silver quality
lateral globus pallidus	UBERON:0002476	74.63	gold quality
dorsal plus ventral thalamus	UBERON:0001897	74.43	gold quality
pharyngeal mucosa	UBERON:0000355	74.40	gold quality
right lobe of liver	UBERON:0001114	74.34	gold quality
trachea	UBERON:0003126	74.28	gold quality
body of tongue	UBERON:0011876	74.26	gold quality
pericardium	UBERON:0002407	74.24	gold quality
tongue	UBERON:0001723	74.13	gold quality
nipple	UBERON:0002030	74.07	gold quality
lateral nuclear group of thalamus	UBERON:0002736	74.04	gold quality
lower esophagus mucosa	UBERON:0035834	73.99	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	14.92
E-ANND-3	no	2.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting C17orf67, 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-5011-5P	100.00	83.46	5820
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-657	99.48	66.02	848
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-5197-3P	98.71	67.05	1905
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-4714-5P	97.04	67.76	955
HSA-MIR-2909	96.36	67.30	562
HSA-MIR-1245A	96.33	66.25	498
HSA-MIR-8079	96.33	66.11	484
HSA-MIR-5586-5P	96.29	68.02	685
HSA-MIR-4761-3P	96.27	66.26	524
HSA-MIR-431-5P	96.16	66.50	652
HSA-MIR-4737	89.94	65.03	82

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-31g6.6	ENSDARG00000101393
mus_musculus	Gm525	ENSMUSG00000072553
rattus_norvegicus	C10h17orf67	ENSRNOG00000064206

Protein

Protein identifiers

Uncharacterized protein C17orf67 — Q0P5P2 (reviewed: Q0P5P2)

All UniProt accessions (1): Q0P5P2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

RefSeq proteins (1): NP_001078899* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027870	DUF4543	Family

Pfam: PF15076

UniProt features (3 total): signal peptide 1, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0P5P2-F1	76.76	0.15

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 36 (showing top): NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, chr17q22, LI_INDUCED_T_TO_NATURAL_KILLER_DN, DLX2_TARGET_GENES, NAB2_TARGET_GENES, ZNF146_TARGET_GENES, ZNF711_TARGET_GENES, ZSCAN30_TARGET_GENES, MIR3125, MIR3916, MIR6859_5P, MIR544A, MIR4436B_3P, MIR6879_5P, MIR6735_5P

GO Biological Process (0):

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

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

294 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C17orf67	BSPH1	Q075Z2	572
C17orf67	ANKFN1	Q8N957	560
C17orf67	DGKE	P52429	538
C17orf67	RUFY1	Q96T51	490
C17orf67	RFLNA	Q6ZTI6	462
C17orf67	DOT1L	Q8TEK3	461
C17orf67	ILRUN	Q9H6K1	446
C17orf67	ANKAR	Q7Z5J8	446
C17orf67	FAM180A	Q6UWF9	437
C17orf67	SYNGR2	O43760	435
C17orf67	BNC2	Q6ZN30	430
C17orf67	POC5	Q8NA72	423
C17orf67	SCPEP1	Q9HB40	414
C17orf67	PINLYP	A6NC86	394
C17orf67	HSPG2	P98160	389

IntAct

10 interactions, top by confidence:

A	B	Type	Score
C17orf67	CADPS	psi-mi:“MI:0915”(physical association)	0.560
GOPC	C17orf67	psi-mi:“MI:0915”(physical association)	0.560
C17orf67	GOPC	psi-mi:“MI:0915”(physical association)	0.560
C17orf67	OPTN	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (2): C17orf67 (Two-hybrid), C17orf67 (Two-hybrid)

ESM2 similar proteins: A0A0K8RAI0, A0A0K8RCU3, A0A0K8RDJ1, A0A141SFN4, A0A158RFT4, A0A1D0BN92, B4G532, B4R1P9, C0HKG1, D3JWK7, E2J6T4, E9Q7F5, F5HB98, F5HHQ0, O08546, O36359, P01587, P04671, P08864, P0CD95, P0CE75, P0CE76, P0DPY3, P0DPY9, P0DQE5, P0DQV0, P11450, P25140, P28907, P28981, P33496, P34468, P54356, P68326, P68329, P86899, P89679, Q00997, Q0P5P2, Q17RF5

Diamond homologs: P0CD95, Q0P5P2, Q3V3I5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1630 predictions. Top by Δscore:

Variant	Effect	Δscore
17:56797779:T:TA	donor_gain	0.9900
17:56827323:CTG:C	donor_gain	0.9900
17:56834257:CGAG:C	donor_loss	0.9900
17:56834259:AG:A	donor_loss	0.9900
17:56834260:GGTA:G	donor_loss	0.9900
17:56834312:GGGC:G	donor_gain	0.9900
17:56835203:T:G	donor_gain	0.9900
17:56835214:TTTGC:T	donor_gain	0.9900
17:56792353:C:CC	acceptor_gain	0.9800
17:56799903:T:C	acceptor_gain	0.9800
17:56815037:C:CT	acceptor_gain	0.9800
17:56834773:GTTA:G	acceptor_loss	0.9800
17:56834775:TA:T	acceptor_loss	0.9800
17:56834776:A:AT	acceptor_loss	0.9800
17:56835255:TACAG:T	donor_loss	0.9800
17:56835256:ACAG:A	donor_loss	0.9800
17:56835257:CAGG:C	donor_loss	0.9800
17:56835258:AGGTA:A	donor_loss	0.9800
17:56835259:GG:G	donor_loss	0.9800
17:56835260:G:GA	donor_loss	0.9800
17:56835261:T:C	donor_loss	0.9800
17:56834771:T:TA	acceptor_gain	0.9700
17:56834772:G:A	acceptor_gain	0.9700
17:56835123:GAGAT:G	donor_gain	0.9700
17:56795181:C:CC	acceptor_gain	0.9600
17:56799903:T:TC	acceptor_gain	0.9600
17:56815038:A:T	acceptor_gain	0.9600
17:56816524:TTACA:T	acceptor_gain	0.9600
17:56827322:A:AC	donor_gain	0.9600
17:56827323:C:CC	donor_gain	0.9600

AlphaMissense

581 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:56814887:G:C	F46L	0.971
17:56814887:G:T	F46L	0.971
17:56814889:A:G	F46L	0.971
17:56795118:C:A	W73C	0.949
17:56795118:C:G	W73C	0.949
17:56795112:G:C	N75K	0.948
17:56795112:G:T	N75K	0.948
17:56795104:C:G	C78S	0.945
17:56795105:A:T	C78S	0.945
17:56814896:T:A	K43N	0.942
17:56814896:T:G	K43N	0.942
17:56795092:C:G	C82S	0.941
17:56795093:A:T	C82S	0.941
17:56795164:A:G	L58P	0.941
17:56814940:C:G	A29P	0.941
17:56795104:C:T	C78Y	0.940
17:56814923:T:A	R34S	0.938
17:56814923:T:G	R34S	0.938
17:56795103:G:C	C78W	0.935
17:56795092:C:T	C82Y	0.930
17:56814930:A:G	L32P	0.926
17:56795091:A:C	C82W	0.925
17:56795105:A:G	C78R	0.921
17:56795116:A:G	L74P	0.919
17:56795093:A:G	C82R	0.910
17:56795104:C:A	C78F	0.910
17:56795152:T:A	E62V	0.909
17:56795120:A:G	W73R	0.907
17:56795120:A:T	W73R	0.907
17:56814924:C:G	R34T	0.906

dbSNP variants (sampled 300 via entrez): RS1000030102 (17:56792026 A>G), RS1000037684 (17:56807638 T>C), RS1000051377 (17:56807042 G>A), RS1000073733 (17:56833662 TC>T,TCC), RS1000125769 (17:56818221 T>C), RS1000203214 (17:56832136 C>T), RS1000257081 (17:56828582 T>C), RS1000286577 (17:56828291 G>T), RS1000349824 (17:56797832 G>A), RS1000365471 (17:56820459 C>T), RS1000393002 (17:56820634 C>T), RS1000501656 (17:56809408 G>A,T), RS1000510378 (17:56833497 G>A), RS1000598161 (17:56816248 A>G), RS1000744945 (17:56826287 T>C)

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
GCST002647_151	Height	1.000000e-23
GCST002702_2	Height	6.000000e-06
GCST004132_96	Crohn’s disease	4.000000e-06
GCST004166_28	Nonsyndromic cleft lip with cleft palate	9.000000e-09
GCST005537_34	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	2.000000e-08
GCST006291_37	Spherical equivalent or myopia (age of diagnosis)	2.000000e-12
GCST008058_256	Estimated glomerular filtration rate	7.000000e-13
GCST008178_13	Early spontaneous preterm birth	8.000000e-06
GCST008839_301	Height	4.000000e-17
GCST010988_64	Adult body size	4.000000e-08
GCST012226_800	Waist circumference adjusted for body mass index	1.000000e-10
GCST012226_801	Waist circumference adjusted for body mass index	4.000000e-08
GCST012227_343	Hip circumference adjusted for BMI	5.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0003959	cleft lip
EFO:0004847	age at onset
EFO:0006917	spontaneous preterm birth
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
Tobacco Smoke Pollution	increases expression	2
butyraldehyde	decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Drugs, Chinese Herbal	increases expression	1
Methotrexate	decreases expression	1
Naphthoquinones	increases expression	1
Ozone	affects expression, increases abundance	1
Silicon Dioxide	decreases expression	1
Zinc	increases expression, affects cotreatment	1
Cadmium Chloride	decreases expression	1
Acrylamide	increases expression	1
Permethrin	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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