CCDC194

Summary

CCDC194 (coiled-coil domain containing 194, HGNC:53438) is a protein-coding gene on chromosome 19p13.11, encoding Coiled-coil domain-containing protein 194 (A0A1B0GVG4).

At a glance

• MANE Select transcript: NM_001395222

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53438
Approved symbol	CCDC194
Name	coiled-coil domain containing 194
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000269720
Ensembl biotype	protein_coding
Entrez	110806280

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000597169, ENST00000636079

RefSeq mRNA: 2 — MANE Select: NM_001395222 NM_001395221, NM_001395222

CCDS: CCDS92556

Canonical transcript exons

ENST00000636079 — 4 exons

Exon	Start	End
ENSE00003791751	17391750	17391846
ENSE00003796964	17391211	17391343
ENSE00003978273	17393835	17394196
ENSE00003978274	17387196	17390659

Expression profiles

Bgee: expression breadth ubiquitous, 114 present calls, max score 76.73.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0545 / max 5.6547, expressed in 33 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179862	0.0545	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ovary	UBERON:0002119	76.73	gold quality
ovary	UBERON:0000992	74.74	gold quality
right ovary	UBERON:0002118	72.98	gold quality
granulocyte	CL:0000094	68.86	gold quality
right adrenal gland	UBERON:0001233	64.63	gold quality
left adrenal gland	UBERON:0001234	64.19	gold quality
left adrenal gland cortex	UBERON:0035825	63.28	gold quality
left uterine tube	UBERON:0001303	62.10	gold quality
right uterine tube	UBERON:0001302	60.88	gold quality
right adrenal gland cortex	UBERON:0035827	60.83	gold quality
adrenal gland	UBERON:0002369	60.68	gold quality
monocyte	CL:0000576	60.27	gold quality
placenta	UBERON:0001987	59.91	gold quality
right lobe of liver	UBERON:0001114	59.77	gold quality
leukocyte	CL:0000738	59.01	gold quality
spleen	UBERON:0002106	55.78	gold quality
fallopian tube	UBERON:0003889	54.94	gold quality
mucosa of stomach	UBERON:0001199	54.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	54.02	gold quality
liver	UBERON:0002107	53.74	gold quality
omental fat pad	UBERON:0010414	53.24	gold quality
apex of heart	UBERON:0002098	52.64	gold quality
adipose tissue	UBERON:0001013	52.29	gold quality
blood	UBERON:0000178	51.88	gold quality
subcutaneous adipose tissue	UBERON:0002190	51.60	gold quality
bone marrow cell	CL:0002092	50.60	gold quality
cortex of kidney	UBERON:0001225	50.48	gold quality
descending thoracic aorta	UBERON:0002345	50.02	gold quality
heart left ventricle	UBERON:0002084	49.19	gold quality
upper lobe of left lung	UBERON:0008952	48.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.44

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc194	ENSMUSG00000108900
rattus_norvegicus	Ccdc194	ENSRNOG00000062469

Protein

Protein identifiers

Coiled-coil domain-containing protein 194 — A0A1B0GVG4 (reviewed: A0A1B0GVG4)

All UniProt accessions (1): A0A1B0GVG4

RefSeq proteins (2): NP_001382150, NP_001382151* (*=MANE)

Domains & families (InterPro)

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GVG4-F1	81.36	0.54

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): chr19p13, ZNF2_TARGET_GENES, ZNF8_TARGET_GENES, ZNF92_TARGET_GENES, ZSCAN5DP_TARGET_GENES, CC2D1A_TARGET_GENES, ADNP_TARGET_GENES, GENES_CORRELATED_WITH_H3C2_DELETION

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NJZ7, A6NNM3, F6XLV1, O15049, O54887, P0C7N4, P58660, P60531, Q0D2H9, Q0P5D1, Q2KJ21, Q2TAC2, Q3LUD3, Q3T1I3, Q3TMW1, Q3V0F0, Q4QRL3, Q5JTB6, Q5RD60, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q80VM7, Q8BP01, Q8C7U1, Q8CB62, Q8CGU1, Q8CHW5, Q8K2I2, Q8N137, Q8N283, Q8N6Y0, Q8R370

Diamond homologs: A0A140LIT1, A0A1B0GVG4

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

1445 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:17394073:G:T	A29D	0.983
19:17394070:C:T	G30D	0.974
19:17394085:G:T	A25D	0.974
19:17394097:G:T	A21D	0.974
19:17394103:C:T	G19E	0.972
19:17394104:C:G	G19R	0.971
19:17394104:C:T	G19R	0.971
19:17394071:C:G	G30R	0.962
19:17394107:A:G	C18R	0.961
19:17394076:G:T	A28E	0.960
19:17394094:A:T	V22E	0.959
19:17391327:C:A	W146C	0.958
19:17391327:C:G	W146C	0.958
19:17394068:C:G	G31R	0.958
19:17394068:C:T	G31R	0.958
19:17394082:G:T	A26E	0.952
19:17391798:C:G	A125P	0.951
19:17394055:G:T	A35D	0.949
19:17394064:G:T	A32D	0.946
19:17394112:G:T	A16D	0.944
19:17394079:G:T	A27E	0.934
19:17391317:C:G	A150P	0.933
19:17394053:A:G	W36R	0.933
19:17394053:A:T	W36R	0.933
19:17394067:C:T	G31E	0.931
19:17391827:A:G	L115P	0.929
19:17394088:A:C	L24R	0.929
19:17394090:G:C	F23L	0.916
19:17394090:G:T	F23L	0.916
19:17394092:A:G	F23L	0.916

dbSNP variants (sampled 300 via entrez): RS1000052636 (19:17389340 T>A,C,G), RS1000120908 (19:17390951 C>A), RS1000379673 (19:17394792 G>A,T), RS1000514552 (19:17393819 T>C), RS1000587262 (19:17387454 A>C,T), RS1000652647 (19:17388926 C>T), RS1001368767 (19:17388094 G>C,T), RS1001592737 (19:17394481 G>A,C,T), RS1001819723 (19:17388473 C>A,T), RS1001955918 (19:17392924 C>T), RS1003091160 (19:17387203 T>C), RS1003630427 (19:17391749 C>G,T), RS1004006267 (19:17392065 C>A,G), RS1004086935 (19:17390856 C>G), RS1004213673 (19:17386928 C>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
sodium arsenite	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
licochalcone B	increases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1

Clinical trials (associated diseases)

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