CCDC175

Summary

CCDC175 (coiled-coil domain containing 175, HGNC:19847) is a protein-coding gene on chromosome 14q23.1, encoding Coiled-coil domain-containing protein 175 (P0C221).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 102 total
• MANE Select transcript: NM_001164399

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19847
Approved symbol	CCDC175
Name	coiled-coil domain containing 175
Location	14q23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000151838
Ensembl biotype	protein_coding
Entrez	729665

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000281581, ENST00000537690, ENST00000553317, ENST00000556936, ENST00000556996

RefSeq mRNA: 1 — MANE Select: NM_001164399 NM_001164399

CCDS: CCDS53898

Canonical transcript exons

ENST00000537690 — 20 exons

Exon	Start	End
ENSE00001094790	59576619	59576812
ENSE00002275644	59505067	59505315
ENSE00002538560	59527095	59527174
ENSE00002539901	59551355	59551436
ENSE00002547316	59525282	59525434
ENSE00002549454	59540675	59540746
ENSE00002550326	59574943	59575028
ENSE00002550959	59531772	59531910
ENSE00002562960	59545163	59545299
ENSE00002563088	59538705	59538840
ENSE00002563738	59565047	59565275
ENSE00002563833	59568245	59568380
ENSE00002564178	59538023	59538154
ENSE00002566746	59572702	59572813
ENSE00003490589	59543344	59543454
ENSE00003526404	59563737	59563859
ENSE00003555717	59511760	59511803
ENSE00003570436	59521574	59521676
ENSE00003587988	59561119	59561228
ENSE00003656729	59510646	59510808

Expression profiles

Bgee: expression breadth broad, 88 present calls, max score 80.62.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3050 / max 95.8662, expressed in 90 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143453	0.1657	59
143452	0.0882	5
143454	0.0512	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar cortex	UBERON:0002129	80.62	gold quality
cerebellar hemisphere	UBERON:0002245	80.55	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.48	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.28	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.24	gold quality
cerebellum	UBERON:0002037	80.17	gold quality
ventricular zone	UBERON:0003053	74.39	gold quality
ganglionic eminence	UBERON:0004023	70.32	gold quality
monocyte	CL:0000576	67.45	gold quality
right uterine tube	UBERON:0001302	65.48	gold quality
leukocyte	CL:0000738	64.35	gold quality
testis	UBERON:0000473	61.89	gold quality
right testis	UBERON:0004534	61.19	gold quality
left testis	UBERON:0004533	61.03	gold quality
corpus callosum	UBERON:0002336	60.90	gold quality
adenohypophysis	UBERON:0002196	57.36	gold quality
pituitary gland	UBERON:0000007	56.74	gold quality
rectum	UBERON:0001052	54.34	gold quality
superior frontal gyrus	UBERON:0002661	50.14	gold quality
brain	UBERON:0000955	49.45	gold quality
colonic epithelium	UBERON:0000397	49.00	silver quality
right frontal lobe	UBERON:0002810	48.26	gold quality
Brodmann (1909) area 9	UBERON:0013540	47.98	gold quality
primary visual cortex	UBERON:0002436	47.12	silver quality
tibial artery	UBERON:0007610	46.27	gold quality
popliteal artery	UBERON:0002250	46.26	gold quality
cortical plate	UBERON:0005343	45.88	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	45.78	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	45.73	gold quality
fallopian tube	UBERON:0003889	45.41	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting CCDC175, 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-513A-5P	100.00	69.77	2465
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-147A	98.33	66.40	795
HSA-MIR-6880-5P	98.08	65.59	1282
HSA-MIR-3680-5P	98.06	66.20	394
HSA-MIR-6818-5P	97.50	67.10	1167
HSA-MIR-7847-3P	96.63	64.58	952

Literature-anchored findings (GeneRIF, showing 1)

• The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. (PMID:36490268)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc175	ENSMUSG00000021086
rattus_norvegicus	Ccdc175	ENSRNOG00000004774

Protein

Protein identifiers

Coiled-coil domain-containing protein 175 — P0C221 (reviewed: P0C221)

All UniProt accessions (2): P0C221, A0A0A0MTQ8

RefSeq proteins (1): NP_001157871* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038834	CCDC175	Family

UniProt features (10 total): coiled-coil region 5, sequence variant 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C221-F1	76.01	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 31 (showing top): chr14q23, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, H1_6_TARGET_GENES, PAX3_TARGET_GENES, ZNF618_TARGET_GENES, ZNF768_TARGET_GENES, MIR1468_3P, GSE10239_KLRG1INT_VS_KLRG1HIGH_EFF_CD8_TCELL_DN, MIR6818_5P, GSE11924_TFH_VS_TH2_CD4_TCELL_DN, MIR6880_5P, GSE13306_RA_VS_UNTREATED_TREG_UP, GSE13306_RA_VS_UNTREATED_TCONV_DN, GSE15750_WT_VS_TRAF6KO_DAY10_EFF_CD8_TCELL_DN, GSE17721_CTRL_VS_CPG_24H_BMDC_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

426 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC175	JKAMP	Q9P055	643
CCDC175	CLVS2	Q5SYC1	614
CCDC175	VWC2	Q2TAL6	591
CCDC175	CNKSR3	Q6P9H4	563
CCDC175	RTN1	Q16799	522
CCDC175	SORCS3	Q9UPU3	512
CCDC175	PDE1A	P54750	505
CCDC175	FAT2	Q9NYQ8	483
CCDC175	PDE1C	Q14123	460
CCDC175	LYPD6	Q86Y78	450
CCDC175	KIF19	Q2TAC6	316
CCDC175	GBP6	Q6ZN66	310
CCDC175	G9CGD6	G9CGD6	303
CCDC175	ETV1	P50549	288
CCDC175	ECE1	P42892	280

IntAct

0 interactions, top by confidence:

BioGRID (8): CCDC175 (Affinity Capture-MS), CCDC175 (Affinity Capture-MS), CCDC175 (Affinity Capture-MS), CCDC175 (Affinity Capture-MS), NEB (Cross-Linking-MS (XL-MS)), CCDC175 (Cross-Linking-MS (XL-MS)), EEA1 (Cross-Linking-MS (XL-MS)), ZC3H18 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2A2Z9, A6NC57, A8MYB1, A9JSR5, A9ZSY0, D3ZNV2, E9PVB3, O94252, P0A1K3, P0A1K4, P0C221, P0C7W6, Q01649, Q08B20, Q0VBY1, Q10006, Q10221, Q1MTQ0, Q2T9Z6, Q2TA00, Q2YDH9, Q3KPU6, Q5AI71, Q5BJE1, Q5I0J4, Q5PQJ9, Q5T0U0, Q5VUR7, Q66HB6, Q6AXT4, Q6AY08, Q6GM07, Q80X59, Q810N9, Q8BVM7, Q8BVN0, Q8CDV0, Q8IVF6, Q8IWF9, Q8N6Q1

Diamond homologs: E9PVB3, P0C221, Q2T9Z6, Q5PQJ9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	90
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3590 predictions. Top by Δscore:

Variant	Effect	Δscore
14:59521572:ACCCT:A	donor_gain	1.0000
14:59521573:CCCTC:C	donor_gain	1.0000
14:59525283:T:TA	donor_gain	1.0000
14:59538037:A:C	donor_gain	1.0000
14:59538150:CTGGT:C	acceptor_gain	1.0000
14:59538155:C:CC	acceptor_gain	1.0000
14:59538699:TCTTA:T	donor_loss	1.0000
14:59538700:CTTA:C	donor_loss	1.0000
14:59538701:TTACC:T	donor_loss	1.0000
14:59538702:TA:T	donor_loss	1.0000
14:59538703:A:AC	donor_gain	1.0000
14:59538703:A:AG	donor_loss	1.0000
14:59538704:C:CC	donor_gain	1.0000
14:59538704:CCT:C	donor_gain	1.0000
14:59538836:TAACA:T	acceptor_gain	1.0000
14:59538837:AACA:A	acceptor_gain	1.0000
14:59538838:ACA:A	acceptor_gain	1.0000
14:59538839:CA:C	acceptor_gain	1.0000
14:59538839:CAC:C	acceptor_gain	1.0000
14:59538841:C:CC	acceptor_gain	1.0000
14:59538841:C:T	acceptor_loss	1.0000
14:59538848:T:TC	acceptor_gain	1.0000
14:59543339:CATA:C	donor_gain	1.0000
14:59543342:A:AC	donor_gain	1.0000
14:59543343:C:CC	donor_gain	1.0000
14:59545161:A:AC	donor_gain	1.0000
14:59545162:C:CC	donor_gain	1.0000
14:59545166:T:C	donor_gain	1.0000
14:59561117:A:AC	donor_gain	1.0000
14:59561118:C:CC	donor_gain	1.0000

AlphaMissense

5283 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:59572802:T:A	R85S	0.959
14:59572802:T:G	R85S	0.959
14:59538827:A:G	W457R	0.958
14:59538827:A:T	W457R	0.958
14:59572769:G:C	S96R	0.951
14:59572769:G:T	S96R	0.951
14:59572771:T:G	S96R	0.951
14:59568366:C:G	A124P	0.948
14:59538825:C:A	W457C	0.946
14:59538825:C:G	W457C	0.946
14:59531840:A:G	L565P	0.943
14:59568362:C:G	R125P	0.942
14:59574953:A:T	V78D	0.941
14:59574957:C:G	A77P	0.941
14:59543350:A:G	L426P	0.938
14:59565225:A:G	L181P	0.938
14:59565202:C:G	A189P	0.932
14:59574974:A:G	L71P	0.930
14:59525403:C:G	R625P	0.928
14:59538724:C:G	R491P	0.924
14:59572761:A:G	L99P	0.922
14:59572803:C:G	R85T	0.922
14:59576630:A:G	L49P	0.921
14:59543368:A:G	L420P	0.919
14:59543359:A:G	L423P	0.916
14:59574963:C:G	A75P	0.912
14:59575019:A:G	L56P	0.912
14:59540696:A:G	L445P	0.908
14:59511775:A:C	F709L	0.902
14:59511775:A:T	F709L	0.902

dbSNP variants (sampled 300 via entrez): RS1000067467 (14:59524940 G>A), RS1000107456 (14:59568271 G>A), RS1000114391 (14:59555315 C>A,G), RS1000147558 (14:59506514 C>T), RS1000153871 (14:59549935 G>A), RS1000188074 (14:59518013 G>A), RS1000230113 (14:59513767 A>G), RS1000252098 (14:59517674 T>C), RS1000356468 (14:59531014 G>T), RS1000362159 (14:59561651 G>T), RS1000462929 (14:59567810 G>C), RS1000478342 (14:59561299 C>G), RS1000504883 (14:59563391 C>G), RS1000521572 (14:59568495 A>C), RS1000531839 (14:59557326 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

2 associations (top):

Study	Trait	p-value
GCST005026_4	Initial pursuit acceleration in psychotic disorders	4.000000e-07
GCST010703_89	Brain morphology (MOSTest)	1.000000e-76

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008434	initial pursuit acceleration
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
corosolic acid	increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1
Coal	increases abundance, increases expression	1
Copper	decreases expression, affects cotreatment	1
Potassium Dichromate	increases expression	1
Smoke	increases abundance, increases expression	1

Clinical trials (associated diseases)

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