CCDC185

Summary

CCDC185 (coiled-coil domain containing 185, HGNC:26654) is a protein-coding gene on chromosome 1q41, encoding Coiled-coil domain-containing protein 185 (Q8N715).

At a glance

• Clinical variants (ClinVar): 138 total
• MANE Select transcript: NM_152610

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26654
Approved symbol	CCDC185
Name	coiled-coil domain containing 185
Location	1q41
Locus type	gene with protein product
Status	Approved
Aliases	FLJ35728
Ensembl gene	ENSG00000178395
Ensembl biotype	protein_coding
Entrez	164127

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000366875

RefSeq mRNA: 1 — MANE Select: NM_152610 NM_152610

CCDS: CCDS1537

Canonical transcript exons

ENST00000366875 — 1 exons

Exon	Start	End
ENSE00001442870	223393415	223395465

Expression profiles

Bgee: expression breadth broad, 27 present calls, max score 86.15.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0444 / max 41.0487, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8748	0.0444	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	86.15	gold quality
right testis	UBERON:0004534	85.22	gold quality
testis	UBERON:0000473	83.61	gold quality
sperm	CL:0000019	75.05	gold quality
myocardium	UBERON:0002349	70.01	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	66.93	gold quality
parotid gland	UBERON:0001831	64.35	gold quality
superficial temporal artery	UBERON:0001614	63.97	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	63.57	gold quality
nasal cavity epithelium	UBERON:0005384	61.91	gold quality
biceps brachii	UBERON:0001507	61.48	gold quality
vena cava	UBERON:0004087	60.91	silver quality
vastus lateralis	UBERON:0001379	60.67	gold quality
quadriceps femoris	UBERON:0001377	60.63	gold quality
tendon of biceps brachii	UBERON:0008188	60.21	silver quality
buccal mucosa cell	CL:0002336	59.81	gold quality
deltoid	UBERON:0001476	59.36	gold quality
jejunum	UBERON:0002115	58.21	gold quality
saphenous vein	UBERON:0007318	57.89	gold quality
synovial joint	UBERON:0002217	57.69	silver quality
adult organism	UBERON:0007023	57.65	gold quality
pharyngeal mucosa	UBERON:0000355	57.42	gold quality
jejunal mucosa	UBERON:0000399	57.36	gold quality
seminal vesicle	UBERON:0000998	57.20	silver quality
medial globus pallidus	UBERON:0002477	57.17	gold quality
penis	UBERON:0000989	56.98	silver quality
trachea	UBERON:0003126	56.91	gold quality
heart right ventricle	UBERON:0002080	56.25	gold quality
cartilage tissue	UBERON:0002418	56.15	gold quality
pericardium	UBERON:0002407	56.07	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	548.70
E-ANND-3	no	0.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting CCDC185, 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-3064-3P	100.00	70.09	1254
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-1301-3P	98.64	68.27	1071
HSA-MIR-5047	98.64	68.62	1035
HSA-MIR-604	93.13	64.42	299

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc185	ENSMUSG00000043429
rattus_norvegicus	Ccdc185	ENSRNOG00000022104

Protein

Protein identifiers

Coiled-coil domain-containing protein 185 — Q8N715 (reviewed: Q8N715)

All UniProt accessions (1): Q8N715

RefSeq proteins (1): NP_689823* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029090	DUF4659	Family

Pfam: PF15558

UniProt features (18 total): compositionally biased region 5, sequence variant 4, coiled-coil region 4, region of interest 3, chain 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N715-F1	69.31	0.41

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 528

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 15 (showing top): MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, MARTENS_TRETINOIN_RESPONSE_UP, MIR1301_3P_MIR5047, SMN1_SMN2_TARGET_GENES, GSE20366_EX_VIVO_VS_DEC205_CONVERSION_NAIVE_CD4_TCELL_DN, GSE20366_TREG_VS_NAIVE_CD4_TCELL_DEC205_CONVERSION_DN, WP_PRIMARY_OVARIAN_INSUFFICIENCY, GSE4142_GC_BCELL_VS_MEMORY_BCELL_UP, IVANOVA_HEMATOPOIESIS_STEM_CELL, GSE21546_ELK1_KO_VS_SAP1A_KO_AND_ELK1_KO_ANTI_CD3_STIM_DP_THYMOCYTES_UP, GSE21546_UNSTIM_VS_ANTI_CD3_STIM_SAP1A_KO_AND_ELK1_KO_DP_THYMOCYTES_UP, GSE22935_UNSTIM_VS_24H_MBOVIS_BCG_STIM_MYD88_KO_MACROPHAGE_DN, GSE22282_HYPOXIA_VS_NORMOXIA_MYELOID_DC_DN, chr1q41, GSE26030_TH1_VS_TH17_RESTIMULATED_DAY5_POST_POLARIZATION_UP

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

330 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC185	ARL1	P40616	606
CCDC185	C5orf47	Q569G3	571
CCDC185	CATSPER3	Q86XQ3	568
CCDC185	C4orf33	Q8N1A6	479
CCDC185	ZNF311	Q5JNZ3	447
CCDC185	TSACC	Q96A04	409
CCDC185	TEX19	Q8NA77	402
CCDC185	SPATC1L	Q9H0A9	396
CCDC185	TMEM109	Q9BVC6	392
CCDC185	CATSPERG	Q6ZRH7	388
CCDC185	SUSD4	Q5VX71	370
CCDC185	ZNF597	Q96LX8	360
CCDC185	OVOL1	O14753	357
CCDC185	PRAP1	Q96NZ9	355
CCDC185	SPATS1	Q496A3	351

IntAct

143 interactions, top by confidence:

A	B	Type	Score
CCDC185	KRT40	psi-mi:“MI:0915”(physical association)	0.720
KRT40	CCDC185	psi-mi:“MI:0915”(physical association)	0.720
CCDC185	MDFI	psi-mi:“MI:0915”(physical association)	0.670
MDFI	CCDC185	psi-mi:“MI:0915”(physical association)	0.670
CCDC185	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
CCDC185	PKNOX2	psi-mi:“MI:0915”(physical association)	0.560
GRIPAP1	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
CCDC185	CBY2	psi-mi:“MI:0915”(physical association)	0.560
KRT27	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
MCC	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
CCDC185	CEP44	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
GEMIN4	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
CCDC185	BACH2	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
CCDC185	PPP1R12C	psi-mi:“MI:0915”(physical association)	0.560
VPS52	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
CCDC185	ZRANB1	psi-mi:“MI:0915”(physical association)	0.560
SPTA1	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
TRAF1	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
MAGEA2	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
CCDC185	AMOTL2	psi-mi:“MI:0915”(physical association)	0.560
CCDC185	MID2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (64): CCDC185 (Two-hybrid), KRTAP10-7 (Two-hybrid), CCDC185 (Two-hybrid), CCDC185 (Two-hybrid), CCDC185 (Two-hybrid), CCDC185 (Two-hybrid), LURAP1 (Two-hybrid), CCDC185 (Two-hybrid), CCDC185 (Two-hybrid), CCDC185 (Two-hybrid), CCDC185 (Two-hybrid), LINGO1 (Affinity Capture-MS), CCDC185 (Two-hybrid), CCDC185 (Two-hybrid), CCDC185 (Two-hybrid)

ESM2 similar proteins: A0A096LP49, A0A1B0GVZ6, A2VE02, A5D7I0, A6NDZ8, A6NE82, A6NGG8, A6NJ08, A6NJI1, A6QP24, A7YY35, A8MYA2, O94850, P50617, Q0P5M0, Q2KIL8, Q2KIS6, Q3SY00, Q3ZBU3, Q497N6, Q4R736, Q5BMD4, Q5JTZ5, Q5M844, Q5VZ46, Q5XIK6, Q66MI6, Q6AXP4, Q6PAC4, Q6ZRC1, Q7L2K0, Q7Z591, Q80TS7, Q80VW7, Q8BFY7, Q8BHW6, Q8IXW0, Q8IYS4, Q8IYX3, Q8N4L8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	5	12.7×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
intermediate filament organization	5	26.2×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	131
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

36 predictions. Top by Δscore:

Variant	Effect	Δscore
1:223393581:TCCG:T	donor_gain	0.4900
1:223393766:G:GT	donor_gain	0.4800
1:223393582:C:A	donor_gain	0.4000
1:223394802:GC:G	donor_gain	0.3500
1:223394736:G:GT	donor_gain	0.3300
1:223394954:G:T	donor_gain	0.3000
1:223394919:G:GT	donor_gain	0.2700
1:223393470:G:GT	donor_gain	0.2600
1:223393816:G:GT	donor_gain	0.2600
1:223394731:TCC:T	donor_gain	0.2600
1:223395120:A:T	donor_gain	0.2500
1:223393902:G:GT	donor_gain	0.2400
1:223394680:TGG:T	donor_gain	0.2400
1:223393428:G:GT	donor_gain	0.2300
1:223394900:G:GT	donor_gain	0.2300
1:223393471:G:T	donor_gain	0.2200
1:223393794:G:GT	donor_gain	0.2200
1:223394856:G:GT	donor_gain	0.2200
1:223394916:G:GT	donor_gain	0.2200
1:223394943:TGGC:T	donor_gain	0.2200
1:223394944:GGCG:G	donor_gain	0.2200
1:223394995:TG:T	donor_gain	0.2200
1:223394996:GG:G	donor_gain	0.2200
1:223393428:G:T	donor_gain	0.2100
1:223393550:A:T	donor_gain	0.2100
1:223394672:G:GT	donor_gain	0.2100
1:223394779:TCCTC:T	donor_gain	0.2100
1:223395025:C:T	donor_gain	0.2100
1:223395028:G:GT	donor_gain	0.2100
1:223395136:A:T	donor_gain	0.2100

AlphaMissense

4048 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:223395165:G:C	A564P	0.989
1:223395123:G:C	A550P	0.986
1:223395161:G:C	K562N	0.975
1:223395161:G:T	K562N	0.975
1:223394335:T:C	L287P	0.972
1:223395118:T:C	L548P	0.972
1:223395157:T:C	I561T	0.966
1:223395116:A:C	K547N	0.965
1:223395116:A:T	K547N	0.965
1:223394380:G:C	R302P	0.961
1:223394802:G:C	A443P	0.960
1:223394773:G:C	R433P	0.954
1:223395157:T:G	I561S	0.951
1:223394327:G:C	W284C	0.949
1:223394327:G:T	W284C	0.949
1:223394782:T:C	L436P	0.948
1:223395112:T:C	L546P	0.948
1:223394815:T:C	L447P	0.946
1:223394769:G:C	A432P	0.944
1:223394812:T:C	L446P	0.942
1:223394777:G:C	K434N	0.935
1:223394777:G:T	K434N	0.935
1:223394824:T:C	L450P	0.935
1:223394302:T:C	L276P	0.934
1:223394762:T:A	N429K	0.933
1:223394762:T:G	N429K	0.933
1:223395088:T:C	L538P	0.933
1:223395109:T:C	I545T	0.930
1:223394313:G:C	A280P	0.929
1:223394343:T:C	S290P	0.929

dbSNP variants (sampled 300 via entrez): RS1000906000 (1:223392969 G>A,T), RS1001191183 (1:223393151 C>G), RS1001205476 (1:223393372 C>A,G), RS1001276943 (1:223395741 T>C), RS1002063153 (1:223392198 A>G), RS1002892374 (1:223394566 C>T), RS1003636539 (1:223395689 C>A,T), RS1004066240 (1:223394457 C>A,G,T), RS1004574810 (1:223392343 C>G,T), RS1005747677 (1:223393512 C>A,T), RS1006996764 (1:223393031 T>G), RS1007350547 (1:223395430 A>G), RS1008624307 (1:223391763 G>A), RS1010649111 (1:223394069 A>T), RS1011052994 (1:223395477 G>A)

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
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Estradiol	increases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Valproic Acid	increases methylation	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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