CCDC187

Summary

CCDC187 (coiled-coil domain containing 187, HGNC:30942) is a protein-coding gene on chromosome 9q34.3, encoding Coiled-coil domain-containing protein 187 (A0A096LP49).

Predicted to enable microtubule binding activity. Predicted to be involved in microtubule anchoring. Predicted to be located in centrosome.

Source: NCBI Gene 399693 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001378188

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30942
Approved symbol	CCDC187
Name	coiled-coil domain containing 187
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC50722
Ensembl gene	ENSG00000260220
Ensembl biotype	protein_coding
Entrez	399693

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000563590, ENST00000565954, ENST00000569961, ENST00000624277, ENST00000638797

RefSeq mRNA: 2 — MANE Select: NM_001378188 NM_001291516, NM_001378188

CCDS: CCDS78462, CCDS94533

Canonical transcript exons

ENST00000638797 — 26 exons

Exon	Start	End
ENSE00002580881	136290486	136291645
ENSE00002581634	136289959	136290053
ENSE00002593221	136285513	136285606
ENSE00002597522	136286085	136286695
ENSE00002604828	136292161	136292295
ENSE00002719179	136249973	136255134
ENSE00003489423	136297714	136297821
ENSE00003633923	136300220	136300318
ENSE00003758091	136302812	136303293
ENSE00003801529	136274883	136275007
ENSE00003802122	136256705	136256841
ENSE00003802366	136276651	136276727
ENSE00003803905	136268049	136268125
ENSE00003804361	136262311	136262462
ENSE00003804786	136263622	136263798
ENSE00003805393	136260119	136260264
ENSE00003805426	136258932	136259001
ENSE00003806097	136259363	136259448
ENSE00003806277	136265956	136266043
ENSE00003806796	136281551	136281663
ENSE00003808272	136256211	136256323
ENSE00003808379	136274658	136274749
ENSE00003808577	136276194	136276301
ENSE00003808854	136267384	136267511
ENSE00003809678	136255657	136255733
ENSE00003903221	136303688	136304094

Expression profiles

Bgee: expression breadth broad, 68 present calls, max score 96.24.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0607 / max 50.0704, expressed in 4 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
205680	0.0561	3
205681	0.0046	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	96.24	gold quality
sperm	CL:0000019	92.60	gold quality
right testis	UBERON:0004534	86.65	gold quality
left testis	UBERON:0004533	86.45	gold quality
buccal mucosa cell	CL:0002336	86.26	silver quality
tendon of biceps brachii	UBERON:0008188	84.55	silver quality
testis	UBERON:0000473	83.30	gold quality
myocardium	UBERON:0002349	82.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.61	gold quality
pituitary gland	UBERON:0000007	72.66	gold quality
right lobe of thyroid gland	UBERON:0001119	72.43	gold quality
nasal cavity mucosa	UBERON:0001826	72.06	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	72.04	gold quality
left lobe of thyroid gland	UBERON:0001120	71.99	gold quality
vena cava	UBERON:0004087	71.75	gold quality
thyroid gland	UBERON:0002046	71.47	gold quality
adenohypophysis	UBERON:0002196	69.96	gold quality
fallopian tube	UBERON:0003889	68.50	gold quality
nasal cavity epithelium	UBERON:0005384	65.86	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	65.72	gold quality
biceps brachii	UBERON:0001507	65.49	gold quality
medial globus pallidus	UBERON:0002477	64.82	gold quality
left uterine tube	UBERON:0001303	64.50	gold quality
heart right ventricle	UBERON:0002080	63.71	gold quality
globus pallidus	UBERON:0001875	63.55	gold quality
decidua	UBERON:0002450	63.46	gold quality
cartilage tissue	UBERON:0002418	62.72	gold quality
nipple	UBERON:0002030	62.40	gold quality
quadriceps femoris	UBERON:0001377	61.96	gold quality
pharyngeal mucosa	UBERON:0000355	61.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting CCDC187, 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-570-3P	99.96	72.41	4910
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-421	98.90	67.04	1883
HSA-MIR-6870-3P	98.08	65.10	692
HSA-MIR-1266-3P	96.23	66.36	778

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc187	ENSMUSG00000048038
rattus_norvegicus	Ccdc187	ENSRNOG00000027392

Protein

Protein identifiers

Coiled-coil domain-containing protein 187 — A0A096LP49 (reviewed: A0A096LP49)

All UniProt accessions (3): A0A096LP49, A0A075B739, A0A1W2PQX5

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
A0A096LP49-1	1	yes
A0A096LP49-2	2

RefSeq proteins (2): NP_001278445, NP_001365117* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028750	CEP350/CC187	Family

UniProt features (23 total): region of interest 8, compositionally biased region 7, sequence conflict 5, chain 1, splice variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A096LP49-F1	44.82	0.08

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9013106	RHOC GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 36 (showing top): GOBP_MICROTUBULE_ANCHORING, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, GOMF_CYTOSKELETAL_PROTEIN_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_MEF_LCP_WITH_H3K27ME3, GOBP_MICROTUBULE_CYTOSKELETON_ORGANIZATION, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, REACTOME_RHO_GTPASE_CYCLE, EIF4E_UP, STK33_SKM_DN, chr9q34, CBX5_TARGET_GENES, IGLV5_37_TARGET_GENES

GO Biological Process (1): microtubule anchoring (GO:0034453)

GO Molecular Function (1): microtubule binding (GO:0008017)

GO Cellular Component (1): centrosome (GO:0005813)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule cytoskeleton organization	1
tubulin binding	1
centriole	1
microtubule organizing center	1

Protein interactions and networks

STRING

435 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC187	RADIL	Q96JH8	563
CCDC187	TMCO2	Q7Z6W1	558
CCDC187	CXorf65	A6NEN9	544
CCDC187	CCDC54	Q8NEL0	543
CCDC187	C20orf173	Q96LM9	541
CCDC187	FAM209A	Q5JX71	526
CCDC187	ZC3H11D	Q8NA57	507
CCDC187	CIMIP4	O43247	506
CCDC187	FAM81B	Q96LP2	491
CCDC187	GARIN1B	Q96KD3	480
CCDC187	C22orf23	Q9BZE7	478
CCDC187	CABS1	Q96KC9	476
CCDC187	SPATA31G1	Q5VYM1	476
CCDC187	CFAP206	Q8IYR0	468
CCDC187	PIH1D2	Q8WWB5	467

IntAct

2 interactions, top by confidence:

A	B	Type	Score
STK38L	CCDC187	psi-mi:“MI:2364”(proximity)	0.270

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: A0A096LP49, Q8C5V8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

13313 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:136290687:G:C	F642L	0.989
9:136290687:G:T	F642L	0.989
9:136290689:A:G	F642L	0.989
9:136290510:A:C	F701L	0.987
9:136290510:A:T	F701L	0.987
9:136290512:A:G	F701L	0.987
9:136286692:G:C	F742L	0.981
9:136286692:G:T	F742L	0.981
9:136286694:A:G	F742L	0.981
9:136290011:A:G	W724R	0.971
9:136290011:A:T	W724R	0.971
9:136302961:A:G	I159T	0.969
9:136290009:C:A	W724C	0.964
9:136290009:C:G	W724C	0.964
9:136290511:A:G	F701S	0.960
9:136286427:C:G	A831P	0.957
9:136286689:G:C	C743W	0.956
9:136290688:A:G	F642S	0.956
9:136286691:A:G	C743R	0.952
9:136286685:A:G	C745R	0.951
9:136290511:A:C	F701C	0.951
9:136286683:A:C	C745W	0.948
9:136286695:G:C	S741R	0.942
9:136286695:G:T	S741R	0.942
9:136289960:T:G	S741R	0.942
9:136291480:A:G	L378P	0.941
9:136290688:A:C	F642C	0.938
9:136292267:C:A	W287C	0.938
9:136292267:C:G	W287C	0.938
9:136286417:A:G	L834P	0.936

dbSNP variants (sampled 300 via entrez): RS1000011023 (9:136257332 T>C), RS1000064550 (9:136293615 C>T), RS1000177417 (9:136259144 G>A), RS1000197548 (9:136284095 G>A), RS1000231046 (9:136258983 G>A), RS1000272464 (9:136289925 C>A), RS1000345672 (9:136250083 G>A), RS1000362362 (9:136281688 G>A), RS1000390748 (9:136273977 A>G), RS1000391506 (9:136286078 G>A), RS1000451067 (9:136263875 G>A,C), RS1000465127 (9:136285931 C>T), RS1000469248 (9:136276867 A>C), RS1000551232 (9:136298531 G>A), RS1000628625 (9:136250281 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

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	1
Smoke	increases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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