CCDC195

Summary

CCDC195 (coiled-coil domain containing 195, HGNC:53441) is a protein-coding gene on chromosome 2q36.2, encoding Coiled-coil domain-containing protein 195 (A0A1B0GUA6).

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001395236

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53441
Approved symbol	CCDC195
Name	coiled-coil domain containing 195
Location	2q36.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283428
Ensembl biotype	protein_coding
Entrez	110806281

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000638102, ENST00000851023

RefSeq mRNA: 1 — MANE Select: NM_001395236 NM_001395236

CCDS: CCDS92949

Canonical transcript exons

ENST00000638102 — 3 exons

Exon	Start	End
ENSE00003791862	224716131	224716365
ENSE00003794346	224709973	224710219
ENSE00003798234	224703764	224703887

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 46.50.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	46.50	gold quality
pituitary gland	UBERON:0000007	38.44	gold quality
skeletal muscle tissue	UBERON:0001134	37.69	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
lymph node	UBERON:0000029	36.18	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
adenohypophysis	UBERON:0002196	34.90	gold quality
tonsil	UBERON:0002372	34.68	gold quality
muscle tissue	UBERON:0002385	34.22	gold quality
muscle of leg	UBERON:0001383	32.34	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
gastrocnemius	UBERON:0001388	31.33	gold quality
rectum	UBERON:0001052	31.13	gold quality
islet of Langerhans	UBERON:0000006	30.88	gold quality
monocyte	CL:0000576	29.96	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
leukocyte	CL:0000738	29.75	silver quality
prefrontal cortex	UBERON:0000451	29.68	silver quality
endometrium	UBERON:0001295	29.42	silver quality
liver	UBERON:0002107	28.34	gold quality
duodenum	UBERON:0002114	28.14	gold quality
kidney	UBERON:0002113	27.22	silver quality
descending thoracic aorta	UBERON:0002345	26.90	silver quality
vermiform appendix	UBERON:0001154	26.42	gold quality
cortex of kidney	UBERON:0001225	26.36	gold quality
substantia nigra	UBERON:0002038	26.17	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.47

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm45261	ENSMUSG00000110100
rattus_norvegicus	Ccdc195	ENSRNOG00000068281

Protein

Protein identifiers

Coiled-coil domain-containing protein 195 — A0A1B0GUA6 (reviewed: A0A1B0GUA6)

All UniProt accessions (1): A0A1B0GUA6

RefSeq proteins (1): NP_001382165* (*=MANE)

Domains & families (InterPro)

UniProt features (6 total): region of interest 2, compositionally biased region 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUA6-F1	64.80	0.18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr2q36

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: A0A140LFM6, A0A1B0GUA6, A0JMD2, A4IGV6, A6H5Y1, A6NFA0, A6NKB5, A8E653, B3DHS1, D3ZJ47, D3ZMK9, E9Q309, O14513, O60284, P0CAX8, Q1RMQ5, Q32LN6, Q3URK1, Q3UTJ2, Q3ZBS1, Q49A88, Q5DU28, Q5RDK8, Q5REU9, Q5SW75, Q5VT06, Q60664, Q62417, Q642A3, Q68D20, Q6A065, Q6DFB0, Q6NRK3, Q6NWJ0, Q6ZVD7, Q76I79, Q7TSH4, Q8K2J4, Q8K3V7, Q8VEB3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1310 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:224703863:G:C	F169L	0.976
2:224703863:G:T	F169L	0.976
2:224703865:A:G	F169L	0.976
2:224710204:A:T	V84D	0.960
2:224703864:A:G	F169S	0.947
2:224710200:T:A	R85S	0.927
2:224710200:T:G	R85S	0.927
2:224710209:C:A	M82I	0.917
2:224710209:C:G	M82I	0.917
2:224710209:C:T	M82I	0.917
2:224703875:C:A	K165N	0.902
2:224703875:C:G	K165N	0.902
2:224710199:G:T	R86S	0.892
2:224703870:A:T	V167D	0.890
2:224716304:A:G	L21P	0.886
2:224703864:A:C	F169C	0.885
2:224710196:A:C	Y87D	0.881
2:224710201:C:A	R85I	0.879
2:224710201:C:G	R85T	0.878
2:224710198:C:G	R86P	0.876
2:224716293:T:C	N25D	0.865
2:224703858:A:G	L171S	0.856
2:224703866:A:C	S168R	0.849
2:224703866:A:T	S168R	0.849
2:224703868:T:G	S168R	0.849
2:224710195:T:G	Y87S	0.848
2:224710196:A:G	Y87H	0.842
2:224716283:A:G	L28P	0.840
2:224710210:A:G	M82T	0.833
2:224716292:T:G	N25T	0.833

dbSNP variants (sampled 300 via entrez): RS1000070272 (2:224714931 T>C), RS1000110497 (2:224705015 C>A,T), RS1000458445 (2:224718364 G>A), RS1000896993 (2:224711497 G>A,C), RS1001080660 (2:224717953 C>T), RS1001354703 (2:224711132 G>T), RS1001413371 (2:224703659 A>G), RS1001465302 (2:224703600 C>T), RS1001492436 (2:224718166 C>T), RS1001624475 (2:224710362 G>A), RS1001971747 (2:224710676 T>C), RS1002264523 (2:224710634 G>A,C), RS1002409337 (2:224705507 C>A), RS1002910239 (2:224714515 C>T), RS1003193617 (2:224709326 TG>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)

Clinical trials (associated diseases)

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