CCDC192

Summary

CCDC192 (coiled-coil domain containing 192, HGNC:49566) is a protein-coding gene on chromosome 5q23.2-q23.3, encoding Coiled-coil domain-containing protein 192 (P0DO97).

At a glance

• GWAS associations: 1
• MANE Select transcript: NM_001317938

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49566
Approved symbol	CCDC192
Name	coiled-coil domain containing 192
Location	5q23.2-q23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000230561
Ensembl biotype	protein_coding
Entrez	728586

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000506670, ENST00000513708, ENST00000514853, ENST00000706942

RefSeq mRNA: 1 — MANE Select: NM_001317938 NM_001317938

CCDS: CCDS83022

Canonical transcript exons

ENST00000514853 — 7 exons

Exon	Start	End
ENSE00001697838	127875538	127875661
ENSE00002045046	127941182	127941507
ENSE00002206802	127754268	127754375
ENSE00002217018	127707709	127707760
ENSE00002280423	127798106	127798162
ENSE00002318585	127797103	127797234
ENSE00003997552	127703391	127703507

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 91.51.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0144 / max 10.9520, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58347	0.0144	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.98	gold quality
left testis	UBERON:0004533	81.03	gold quality
right testis	UBERON:0004534	80.83	gold quality
testis	UBERON:0000473	80.82	gold quality
tibial nerve	UBERON:0001323	68.35	gold quality
skeletal muscle tissue	UBERON:0001134	67.42	gold quality
muscle tissue	UBERON:0002385	66.01	gold quality
lower esophagus muscularis layer	UBERON:0035833	65.83	gold quality
lower esophagus	UBERON:0013473	65.81	gold quality
mucosa of stomach	UBERON:0001199	65.71	gold quality
stromal cell of endometrium	CL:0002255	65.67	gold quality
muscle of leg	UBERON:0001383	65.35	gold quality
gastrocnemius	UBERON:0001388	65.28	gold quality
subcutaneous adipose tissue	UBERON:0002190	64.45	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	64.09	gold quality
endometrium	UBERON:0001295	63.65	gold quality
right ovary	UBERON:0002118	62.94	gold quality
left ovary	UBERON:0002119	62.24	gold quality
adipose tissue	UBERON:0001013	61.92	gold quality
ovary	UBERON:0000992	61.79	gold quality
right adrenal gland cortex	UBERON:0035827	61.19	gold quality
ectocervix	UBERON:0012249	61.05	gold quality
smooth muscle tissue	UBERON:0001135	60.82	gold quality
right lung	UBERON:0002167	60.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	60.51	gold quality
uterine cervix	UBERON:0000002	60.41	gold quality
rectum	UBERON:0001052	60.32	gold quality
muscle layer of sigmoid colon	UBERON:0035805	60.11	gold quality
right adrenal gland	UBERON:0001233	60.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.37

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc192	ENSMUSG00000058925
rattus_norvegicus		ENSRNOG00000065037

Protein

Protein identifiers

Coiled-coil domain-containing protein 192 — P0DO97 (reviewed: P0DO97)

All UniProt accessions (2): P0DO97, A0A9S7N7Z0

RefSeq proteins (1): NP_001304867* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038817	CCDC192	Family

UniProt features (7 total): region of interest 2, coiled-coil region 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DO97-F1	74.46	0.48

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 41 (showing top): BARX1_TARGET_GENES, DLX2_TARGET_GENES, DMRT1_TARGET_GENES, EMX1_TARGET_GENES, GLI1_TARGET_GENES, GREB1_TARGET_GENES, HES2_TARGET_GENES, HHEX_TARGET_GENES, HMG20B_TARGET_GENES, HOXC13_TARGET_GENES, LHX9_TARGET_GENES, MSX1_TARGET_GENES, PAX3_TARGET_GENES, SOX3_TARGET_GENES, TEAD2_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC192	WWC1	Q8IX03	767
CCDC192	DDN	O94850	648
CCDC192	CCDC106	Q9BWC9	507
CCDC192	CCDC34	Q96HJ3	479
CCDC192	CCDC142	Q17RM4	474
CCDC192	KLHL18	O94889	428
CCDC192	CTXN3	Q4LDR2	397
CCDC192	CCDC69	A6NI79	394
CCDC192	CCER1	Q8TC90	390
CCDC192	CCDC154	A6NI56	373
CCDC192	CFAP73	A6NFT4	368
CCDC192	LBH	Q53QV2	354
CCDC192	TTC31	Q49AM3	349
CCDC192	CCDC68	Q9H2F9	348
CCDC192	MYZAP	P0CAP1	322

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0JMK8, A2AIV8, A3KNA5, A6QR54, A9QT41, B2RZ86, B9V5F5, F7DP49, O88522, P0CAP1, P0CF95, P0DO97, Q08DR9, Q0IHN7, Q0V9T6, Q19UN5, Q3KR99, Q3SWS9, Q3UIJ9, Q4V7C8, Q5BIX7, Q5EB94, Q5HZK9, Q5R923, Q5VZ66, Q6DD09, Q6DIX6, Q6GLX3, Q6NRW2, Q6TMG5, Q6ZU80, Q861Q8, Q8BI22, Q8BT07, Q8BVL9, Q8CIS0, Q8K3K8, Q8R5M4, Q923A2, Q95KA2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1898 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:127875614:T:C	L182P	0.948
5:127941263:T:C	L225P	0.948
5:127754343:G:C	A83P	0.945
5:127941305:T:C	L239P	0.934
5:127875595:G:C	A176P	0.930
5:127941338:T:C	I250T	0.914
5:127754335:T:C	L80P	0.912
5:127754355:G:C	A87P	0.912
5:127797104:T:C	L94P	0.898
5:127798124:G:C	A144P	0.896
5:127798152:T:C	L153P	0.896
5:127941263:T:A	L225Q	0.896
5:127941265:T:C	S226P	0.885
5:127875569:T:C	L167P	0.880
5:127875589:G:C	A174P	0.879
5:127798119:T:C	L142S	0.878
5:127941254:T:A	I222K	0.874
5:127941347:T:C	L253P	0.871
5:127941296:T:C	I236T	0.869
5:127797134:T:C	L104P	0.866
5:127875608:T:C	L180P	0.865
5:127941251:T:C	L221P	0.865
5:127798139:T:C	S149P	0.856
5:127941338:T:G	I250S	0.853
5:127798110:T:C	I139T	0.843
5:127797155:T:C	L111P	0.842
5:127875626:T:C	I186T	0.841
5:127875583:G:C	A172P	0.833
5:127875599:T:G	I177S	0.832
5:127941254:T:C	I222T	0.821

dbSNP variants (sampled 300 via entrez): RS1000025180 (5:127714847 T>C), RS1000050726 (5:127737458 G>A,T), RS1000061862 (5:127826084 A>G), RS1000068541 (5:127753656 C>G,T), RS1000087199 (5:127730833 A>C), RS1000095438 (5:127831299 G>A), RS1000173569 (5:127922809 T>G), RS1000179590 (5:127875738 A>G), RS1000191688 (5:127825850 A>G,T), RS1000207926 (5:127757441 G>A,T), RS1000226730 (5:127702232 A>G), RS1000227209 (5:127789676 A>C), RS1000243962 (5:127826289 G>C), RS1000245262 (5:127770133 A>G), RS1000257694 (5:127838611 A>G,T)

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

1 associations (top):

Study	Trait	p-value
GCST90000025_7	Appendicular lean mass	5.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Indomethacin	increases expression, affects cotreatment	1
Malathion	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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