CCDC167

Summary

CCDC167 (coiled-coil domain containing 167, HGNC:21239) is a protein-coding gene on chromosome 6p21.2, encoding Coiled-coil domain-containing protein 167 (Q9P0B6).

Predicted to be located in membrane.

Source: NCBI Gene 154467 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 29 total
• MANE Select transcript: NM_138493

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21239
Approved symbol	CCDC167
Name	coiled-coil domain containing 167
Location	6p21.2
Locus type	gene with protein product
Status	Approved
Aliases	dJ153P14.2
Ensembl gene	ENSG00000198937
Ensembl biotype	protein_coding
Entrez	154467

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000373408, ENST00000916247

RefSeq mRNA: 1 — MANE Select: NM_138493 NM_138493

CCDS: CCDS34441

Canonical transcript exons

ENST00000373408 — 4 exons

Exon	Start	End
ENSE00000849785	37485100	37485194
ENSE00000849786	37484810	37484862
ENSE00001553358	37499822	37499893
ENSE00001869863	37482938	37483289

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 96.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.1103 / max 136.6362, expressed in 1790 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73425	15.1103	1790

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	96.49	gold quality
ventricular zone	UBERON:0003053	95.69	gold quality
cortical plate	UBERON:0005343	93.70	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.15	gold quality
apex of heart	UBERON:0002098	92.70	gold quality
right lobe of liver	UBERON:0001114	92.45	gold quality
left testis	UBERON:0004533	92.09	gold quality
spinal cord	UBERON:0002240	91.95	gold quality
right testis	UBERON:0004534	91.79	gold quality
bone marrow cell	CL:0002092	91.39	gold quality
granulocyte	CL:0000094	91.28	gold quality
lymph node	UBERON:0000029	91.06	gold quality
mucosa of transverse colon	UBERON:0004991	91.05	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.72	gold quality
testis	UBERON:0000473	90.69	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.51	gold quality
islet of Langerhans	UBERON:0000006	90.51	gold quality
smooth muscle tissue	UBERON:0001135	90.42	gold quality
heart left ventricle	UBERON:0002084	90.39	gold quality
cardiac ventricle	UBERON:0002082	90.09	gold quality
right atrium auricular region	UBERON:0006631	89.47	gold quality
anterior cingulate cortex	UBERON:0009835	89.28	gold quality
amygdala	UBERON:0001876	89.05	gold quality
heart	UBERON:0000948	88.78	gold quality
prefrontal cortex	UBERON:0000451	88.76	gold quality
cardiac atrium	UBERON:0002081	88.76	gold quality
vermiform appendix	UBERON:0001154	88.71	gold quality
oocyte	CL:0000023	88.56	gold quality
hypothalamus	UBERON:0001898	88.56	gold quality
rectum	UBERON:0001052	88.41	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	39.60
E-MTAB-9467	yes	31.21
E-CURD-122	yes	22.87
E-ANND-3	yes	18.64
E-CURD-46	yes	10.68
E-MTAB-7606	no	424.11
E-CURD-89	no	214.15
E-CURD-88	no	3.65
E-CURD-112	no	3.60

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting CCDC167, 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-3065-3P	99.87	70.25	1407
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-1304-5P	98.90	68.58	1054
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-3188	98.58	65.60	878
HSA-MIR-510-5P	97.66	65.82	916
HSA-MIR-3190-3P	97.61	66.95	1406
HSA-MIR-512-5P	97.47	66.48	591
HSA-MIR-6894-3P	96.73	65.64	798
HSA-MIR-6762-5P	96.55	64.62	972
HSA-MIR-6845-5P	96.55	64.65	969
HSA-MIR-6774-5P	95.94	65.18	722
HSA-MIR-6796-5P	95.37	66.08	1120

Literature-anchored findings (GeneRIF, showing 1)

• CCDC167 as a potential therapeutic target and regulator of cell cycle-related networks in breast cancer. (PMID:33461170)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc167	ENSDARG00000045850
mus_musculus	Ccdc167	ENSMUSG00000024018
rattus_norvegicus	Ccdc167	ENSRNOG00000068717

Protein

Protein identifiers

Coiled-coil domain-containing protein 167 — Q9P0B6 (reviewed: Q9P0B6)

All UniProt accessions (1): Q9P0B6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_612502* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028194	CC167	Family

Pfam: PF15188

UniProt features (3 total): chain 1, transmembrane region 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P0B6-F1	87.71	0.52

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 60 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, ACEVEDO_LIVER_CANCER_UP, KOYAMA_SEMA3B_TARGETS_DN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, CIITA_TARGET_GENES, GLI4_TARGET_GENES, ZNF10_TARGET_GENES, ZNF507_TARGET_GENES, GSE12366_GC_VS_NAIVE_BCELL_UP, MIR3188, MIR512_5P, GSE14769_UNSTIM_VS_20MIN_LPS_BMDM_UP, GSE15324_ELF4_KO_VS_WT_NAIVE_CD8_TCELL_DN, GSE17721_CTRL_VS_POLYIC_8H_BMDC_UP, GSE17721_CTRL_VS_CPG_1H_BMDC_DN

GO Biological Process (0):

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

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

316 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC167	ARFGEF3	Q5TH69	508
CCDC167	CHMP7	Q8WUX9	493
CCDC167	LRRTM4	Q86VH4	489
CCDC167	CCDC178	Q5BJE1	465
CCDC167	PRKCSH	P14314	455
CCDC167	CCDC106	Q9BWC9	448
CCDC167	FN3KRP	Q9HA64	445
CCDC167	SAC3D1	A6NKF1	427
CCDC167	PKIA	P04541	421
CCDC167	FAM47C	Q5HY64	417
CCDC167	RRM1	P23921	404
CCDC167	METTL26	Q96S19	399
CCDC167	CCDC69	A6NI79	394
CCDC167	CCDC34	Q96HJ3	387
CCDC167	CPNE2	Q96FN4	375

IntAct

126 interactions, top by confidence:

A	B	Type	Score
CCDC167	AQP6	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	RETREG3	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	FFAR2	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	TMX2	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	GPR42	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
APPBP2	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
TMEM237	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
OPRM1	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
CX3CR1	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
MS4A3	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
TM4SF19	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
TLCD4	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
SLC35C2	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
AQP6	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
RETREG3	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
FAM210B	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
	CCDC167	psi-mi:“MI:0915”(physical association)	0.560
HSD17B13	CCDC167	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (60): CCDC167 (Affinity Capture-MS), CCDC167 (PCA), CCDC167 (Affinity Capture-MS), CCDC167 (Two-hybrid), CCDC167 (Two-hybrid), CCDC167 (Affinity Capture-MS), CCDC167 (Two-hybrid), CCDC167 (Two-hybrid), CCDC167 (Two-hybrid), CCDC167 (Two-hybrid), CCDC167 (Two-hybrid), CCDC167 (Two-hybrid), CCDC167 (Two-hybrid), CCDC167 (Two-hybrid), CCDC167 (Two-hybrid)

ESM2 similar proteins: A1A4P9, A4QNG1, B1WB06, B8JLV7, F4HVW5, F4IRM4, F4J264, F4JTI1, K7TQE3, O48781, O65573, O80462, O81893, O82387, Q0IY07, Q0WPN7, Q3EBL9, Q3KPR1, Q3ZBK3, Q5BK13, Q5M7V7, Q5M856, Q5MK23, Q5MK24, Q5RHZ2, Q6BDI9, Q6E7H0, Q7X6P3, Q7ZYB4, Q84JN1, Q84M47, Q84WF5, Q8IYF3, Q8L7N4, Q8LBH4, Q8RXH2, Q8S9J3, Q8W032, Q8W4F0, Q94BM7

Diamond homologs: A1A4P9, A4QNG1, Q5RHZ2, Q9D162, Q9P0B6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

396 predictions. Top by Δscore:

Variant	Effect	Δscore
6:37483288:CT:C	acceptor_gain	1.0000
6:37483290:C:CC	acceptor_gain	1.0000
6:37483290:CTG:C	acceptor_loss	1.0000
6:37483291:T:G	acceptor_loss	1.0000
6:37485094:CATTA:C	donor_loss	1.0000
6:37485096:TTACC:T	donor_loss	1.0000
6:37485097:TACC:T	donor_loss	1.0000
6:37485098:A:AC	donor_gain	1.0000
6:37485098:A:C	donor_loss	1.0000
6:37485099:C:CC	donor_gain	1.0000
6:37485099:C:T	donor_loss	1.0000
6:37485099:CCTGG:C	donor_gain	1.0000
6:37483285:CTTCT:C	acceptor_gain	0.9900
6:37483305:G:C	acceptor_gain	0.9900
6:37484804:TCTTA:T	donor_loss	0.9900
6:37484805:CTTA:C	donor_loss	0.9900
6:37484806:TTA:T	donor_loss	0.9900
6:37484807:TACCG:T	donor_loss	0.9900
6:37484808:A:AC	donor_gain	0.9900
6:37484808:A:AT	donor_loss	0.9900
6:37484809:C:CC	donor_gain	0.9900
6:37484860:CTCCT:C	acceptor_loss	0.9900
6:37484861:TCC:T	acceptor_loss	0.9900
6:37484862:CCTGT:C	acceptor_loss	0.9900
6:37484863:C:CG	acceptor_loss	0.9900
6:37485191:CGAT:C	acceptor_gain	0.9900
6:37485194:TCTGA:T	acceptor_loss	0.9900
6:37485195:C:CC	acceptor_gain	0.9900
6:37485195:CT:C	acceptor_loss	0.9900
6:37485196:T:C	acceptor_loss	0.9900

AlphaMissense

630 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:37483280:A:G	L67P	0.955
6:37483268:C:G	R71P	0.941
6:37485172:A:G	L22P	0.928
6:37485151:A:G	L29P	0.922
6:37484833:A:G	L56P	0.917
6:37483258:G:C	N74K	0.912
6:37483258:G:T	N74K	0.912
6:37483260:T:C	N74D	0.907
6:37483256:C:G	R75P	0.882
6:37499829:G:T	A12D	0.881
6:37485184:A:G	L18P	0.879
6:37483271:A:G	L70P	0.874
6:37485193:A:C	I15S	0.870
6:37484854:A:G	L49P	0.862
6:37483232:G:T	A83D	0.860
6:37484822:C:G	A60P	0.858
6:37483259:T:G	N74T	0.843
6:37483259:T:A	N74I	0.841
6:37483259:T:C	N74S	0.838
6:37485193:A:T	I15N	0.830
6:37483233:C:G	A83P	0.819
6:37499832:A:T	V11D	0.812
6:37499830:C:G	A12P	0.809
6:37499822:C:A	E14D	0.804
6:37499822:C:G	E14D	0.804
6:37483260:T:G	N74H	0.802
6:37483249:G:C	N77K	0.800
6:37483249:G:T	N77K	0.800
6:37483220:A:C	L87R	0.791
6:37483271:A:T	L70H	0.784

dbSNP variants (sampled 300 via entrez): RS1000146614 (6:37493636 C>A,T), RS1000156841 (6:37483137 A>G,T), RS1000217259 (6:37495084 G>A), RS1000310618 (6:37493157 AGAAAGGCGAGG>A), RS1000379198 (6:37496647 A>G), RS1000434788 (6:37493989 G>A,C), RS1000574412 (6:37485560 G>A), RS1001169541 (6:37490263 T>G), RS1001485258 (6:37499599 C>A,G,T), RS1002203743 (6:37492963 A>G), RS1002242772 (6:37487304 C>T), RS1002810649 (6:37486182 C>A,T), RS1002841481 (6:37491525 A>G), RS1002980295 (6:37485808 C>G), RS1003037360 (6:37498336 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

5 associations (top):

Study	Trait	p-value
GCST000477_42	Cognitive performance	7.000000e-06
GCST002481_11	Acne (severe)	2.000000e-06
GCST002875_4	Diisocyanate-induced asthma	1.000000e-06
GCST005042_8	Restless legs syndrome	3.000000e-26
GCST007327_173	Smoking status (ever vs never smokers)	3.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0006995	response to diisocyanate
EFO:0004318	smoking behavior

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects expression, affects cotreatment, increases expression	3
Valproic Acid	affects expression, increases expression	3
Cyclosporine	increases expression	3
Cadmium Chloride	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects cotreatment, increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
nickel sulfate	increases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
avobenzone	increases expression	1
K 7174	decreases expression	1
ICG 001	increases expression	1
jinfukang	increases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
Decitabine	affects expression	1
Coumestrol	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Diuron	decreases expression	1
Indomethacin	increases expression, affects cotreatment	1
Methapyrilene	increases methylation	1
Nickel	increases expression	1
Nicotine	increases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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