CCDC197

Summary

CCDC197 (coiled-coil domain containing 197, HGNC:19860) is a protein-coding gene on chromosome 14q32.12, encoding Uncharacterized protein CCDC197 (Q8NCU1).

Predicted to be located in membrane.

Source: NCBI Gene 256369 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001351596

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19860
Approved symbol	CCDC197
Name	coiled-coil domain containing 197
Location	14q32.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000175699
Ensembl biotype	protein_coding
Entrez	256369

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000359253, ENST00000444118, ENST00000449472, ENST00000455802, ENST00000636493, ENST00000640978, ENST00000952033

RefSeq mRNA: 2 — MANE Select: NM_001351596 NM_001351596, NM_001411045

CCDS: CCDS86426, CCDS91922

Canonical transcript exons

ENST00000627606 — 0 exons

Expression profiles

Bgee: expression breadth broad, 65 present calls, max score 86.45.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0270 / max 27.9673, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141196	0.0236	3
141197	0.0034	2

Top tissues by expression

102 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	86.45	gold quality
right testis	UBERON:0004534	86.15	gold quality
left testis	UBERON:0004533	86.13	gold quality
testis	UBERON:0000473	85.56	gold quality
apex of heart	UBERON:0002098	81.43	gold quality
gastrocnemius	UBERON:0001388	74.48	gold quality
muscle of leg	UBERON:0001383	71.83	gold quality
hindlimb stylopod muscle	UBERON:0004252	68.65	gold quality
skeletal muscle tissue	UBERON:0001134	68.19	gold quality
heart left ventricle	UBERON:0002084	67.77	gold quality
heart	UBERON:0000948	59.68	gold quality
muscle tissue	UBERON:0002385	57.92	gold quality
right atrium auricular region	UBERON:0006631	55.37	gold quality
descending thoracic aorta	UBERON:0002345	48.68	gold quality
thoracic aorta	UBERON:0001515	47.78	gold quality
ascending aorta	UBERON:0001496	47.67	gold quality
tibial artery	UBERON:0007610	41.80	gold quality
popliteal artery	UBERON:0002250	41.76	gold quality
rectum	UBERON:0001052	41.58	silver quality
stromal cell of endometrium	CL:0002255	39.47	gold quality
bone marrow cell	CL:0002092	39.45	gold quality
pituitary gland	UBERON:0000007	38.96	gold quality
bone marrow	UBERON:0002371	38.96	silver quality
lymph node	UBERON:0000029	38.16	silver quality
adenohypophysis	UBERON:0002196	38.05	gold quality
right coronary artery	UBERON:0001625	37.64	silver quality
duodenum	UBERON:0002114	37.64	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ectocervix	UBERON:0012249	37.17	silver quality
multicellular organism	UBERON:0000468	36.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.07

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Uncharacterized protein CCDC197 — Q8NCU1 (reviewed: Q8NCU1)

Alternative names: Coiled-coil domain-containing protein 197

All UniProt accessions (4): Q8NCU1, A0A1B0GTQ9, A0A1B0GUF5, A0A1W2PPK9

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NCU1-1	1	yes
Q8NCU1-2	2

RefSeq proteins (2): NP_001338525, NP_001397974 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR051147	CFAP_domain-containing	Family

UniProt features (4 total): splice variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCU1-F1	85.38	0.64

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 4 (showing top): chr14q32, ID1_TARGET_GENES, GSE4748_CYANOBACTERIUM_LPSLIKE_VS_LPS_AND_CYANOBACTERIUM_LPSLIKE_STIM_DC_3H_DN, GSE32986_GMCSF_AND_CURDLAN_LOWDOSE_VS_GMCSF_AND_CURDLAN_HIGHDOSE_STIM_DC_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

248 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC197	TSC22D2	O75157	431
CCDC197	SPCS3	P12280	403
CCDC197	SYNPO2L	Q9H987	400
CCDC197	ACAD10	Q6JQN1	381
CCDC197	NAA25	Q14CX7	373
CCDC197	XIRP1	Q702N8	370
CCDC197	ANKRD46	Q86W74	367
CCDC197	ANP32E	Q9BTT0	320
CCDC197	KTN1	Q86UP2	314
CCDC197	GYG1	P46976	310
CCDC197	TRIP12	Q14669	297
CCDC197	RASSF3	Q86WH2	295
CCDC197	ALDH6A1	Q02252	295
CCDC197	TSC22D1	Q15714	275
CCDC197	UBE2N	P61088	263

IntAct

65 interactions, top by confidence:

A	B	Type	Score
C1orf216	CCDC197	psi-mi:“MI:0915”(physical association)	0.720
CCDC197	C1orf216	psi-mi:“MI:0915”(physical association)	0.720
CCDC197	WASHC3	psi-mi:“MI:0915”(physical association)	0.600
WASHC3	CCDC197	psi-mi:“MI:0915”(physical association)	0.600
KRT75	CCDC197	psi-mi:“MI:0915”(physical association)	0.560
USHBP1	CCDC197	psi-mi:“MI:0915”(physical association)	0.560
CCDC197	DISC1	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	CCDC197	psi-mi:“MI:0915”(physical association)	0.560
CCDC197	TXN2	psi-mi:“MI:0915”(physical association)	0.560
CCDC197	CYTH4	psi-mi:“MI:0915”(physical association)	0.560
	CCDC197	psi-mi:“MI:0915”(physical association)	0.560
CCDC197	SMARCD1	psi-mi:“MI:0915”(physical association)	0.560
CCDC197	BEX2	psi-mi:“MI:0915”(physical association)	0.560
RUNX1T1	CCDC197	psi-mi:“MI:0915”(physical association)	0.560
KRT3	CCDC197	psi-mi:“MI:0915”(physical association)	0.560
LCA5L	CCDC197	psi-mi:“MI:0915”(physical association)	0.560
CCDC197	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
CCDC197	NXF1	psi-mi:“MI:0915”(physical association)	0.560
CCDC197	CCHCR1	psi-mi:“MI:0915”(physical association)	0.560
CCDC197	CFTR	psi-mi:“MI:0915”(physical association)	0.370
SKA1	CCDC197	psi-mi:“MI:0915”(physical association)	0.370
CCDC197	WASHC3	psi-mi:“MI:0915”(physical association)	0.000
CCDC197	USHBP1	psi-mi:“MI:0915”(physical association)	0.000
CCDC197	DISC1	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A0A0D9SF12, A2A8T7, A6H7E2, A6NF36, A6NFA0, A6NI87, E1C7U0, P03246, P03247, P0DO92, P14355, P14683, Q0VG49, Q1HVF6, Q32LN6, Q3KPU7, Q3KSS3, Q4V7D2, Q4ZG55, Q5DU28, Q5JX69, Q5JX71, Q5R7E2, Q5U4U4, Q642A3, Q6NRW0, Q6P1U0, Q6P4J6, Q6P9N1, Q6PEX7, Q6X4T0, Q7L3B6, Q7SYV9, Q7T346, Q80Y73, Q8BJS8, Q8CF25, Q8IWB6, Q8N6T0, Q8NCU1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

2 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

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000086751 (14:94008862 C>T), RS1000266733 (14:94001841 G>A), RS1000461381 (14:94002344 A>G,T), RS1000605362 (14:94000585 T>C), RS1000980448 (14:94007672 G>T), RS1001075282 (14:94007424 A>G), RS1001221993 (14:94002086 A>G,T), RS1001290231 (14:94010252 A>G), RS1001369922 (14:94001439 G>A,C), RS1001662935 (14:93995572 C>G,T), RS1001715526 (14:93995765 C>T), RS1001721752 (14:94010434 C>G,T), RS1001742190 (14:93997086 A>T), RS1001798998 (14:94002259 G>GC), RS1002001669 (14:93994384 A>G)

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

4 associations (top):

Study	Trait	p-value
GCST003560_19	Coronary artery aneurysm in Kawasaki disease	8.000000e-06
GCST006629_102	Pulse pressure	4.000000e-13
GCST007269_149	Pulse pressure	1.000000e-08
GCST011499_2	Fish consumption	8.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0010139	fish consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
aflatoxin B2	increases methylation	1
Aldehydes	decreases expression	1
Amiodarone	increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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