CCDC184

Summary

CCDC184 (coiled-coil domain containing 184, HGNC:33749) is a protein-coding gene on chromosome 12q13.11, encoding Coiled-coil domain-containing protein 184 (Q52MB2).

Located in cytoplasm.

Source: NCBI Gene 387856 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_001013635

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33749
Approved symbol	CCDC184
Name	coiled-coil domain containing 184
Location	12q13.11
Locus type	gene with protein product
Status	Approved
Aliases	LOC387856
Ensembl gene	ENSG00000177875
Ensembl biotype	protein_coding
Entrez	387856

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000316554

RefSeq mRNA: 1 — MANE Select: NM_001013635 NM_001013635

CCDS: CCDS31785

Canonical transcript exons

ENST00000316554 — 1 exons

Exon	Start	End
ENSE00001216889	48183644	48185926

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 93.13.

FANTOM5 (CAGE): breadth broad, TPM avg 4.0135 / max 197.6836, expressed in 608 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125256	3.3963	527
125258	0.3004	149
125257	0.2316	134
125255	0.0852	45

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	93.13	gold quality
prefrontal cortex	UBERON:0000451	90.16	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.12	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.07	gold quality
right frontal lobe	UBERON:0002810	87.78	gold quality
frontal cortex	UBERON:0001870	87.49	gold quality
neocortex	UBERON:0001950	87.19	gold quality
anterior cingulate cortex	UBERON:0009835	86.82	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.11	gold quality
hypothalamus	UBERON:0001898	85.70	gold quality
cerebellar cortex	UBERON:0002129	85.49	gold quality
cerebellar hemisphere	UBERON:0002245	85.47	gold quality
primary visual cortex	UBERON:0002436	85.16	gold quality
cerebral cortex	UBERON:0000956	84.85	gold quality
cerebellum	UBERON:0002037	84.58	gold quality
superior frontal gyrus	UBERON:0002661	82.70	gold quality
middle temporal gyrus	UBERON:0002771	81.83	gold quality
forebrain	UBERON:0001890	81.51	gold quality
brain	UBERON:0000955	81.48	gold quality
postcentral gyrus	UBERON:0002581	81.47	gold quality
occipital lobe	UBERON:0002021	80.57	gold quality
Brodmann (1909) area 23	UBERON:0013554	80.48	gold quality
cerebellar vermis	UBERON:0004720	80.03	gold quality
amygdala	UBERON:0001876	79.93	gold quality
endothelial cell	CL:0000115	79.75	silver quality
parietal lobe	UBERON:0001872	79.38	gold quality
nucleus accumbens	UBERON:0001882	78.93	gold quality
substantia nigra	UBERON:0002038	78.58	gold quality
temporal lobe	UBERON:0001871	77.91	gold quality
Ammon’s horn	UBERON:0001954	77.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting CCDC184, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-520A-5P	99.35	66.72	1632

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc184	ENSMUSG00000029875
rattus_norvegicus	Ccdc184	ENSRNOG00000021945

Protein

Protein identifiers

Coiled-coil domain-containing protein 184 — Q52MB2 (reviewed: Q52MB2)

All UniProt accessions (1): Q52MB2

RefSeq proteins (1): NP_001013657* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031458	DUF4677	Family

Pfam: PF15726

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q52MB2-F1	67.74	0.29

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 58 (showing top): AGGAAGC_MIR5163P, TGTGTGA_MIR377, GTGTGAG_MIR342, MEISSNER_NPC_HCP_WITH_H3K4ME2, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, GUCY1B1_TARGET_GENES, TASOR_TARGET_GENES, MIR8485, MIR30D_3P, MIR30E_3P, MIR30A_3P, MIR4291, MIR1275, MIR4801, MIR4731_3P

GO Biological Process (0):

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

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

482 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC184	ZGRF1	Q86YA3	441
CCDC184	ZNF280D	Q6N043	434
CCDC184	RPUSD3	Q6P087	416
CCDC184	PRR15L	Q9BU68	409
CCDC184	RIMKLA	Q8IXN7	409
CCDC184	PDZRN4	Q6ZMN7	398
CCDC184	TBC1D30	Q9Y2I9	394
CCDC184	ZKSCAN8	Q15776	390
CCDC184	ANKRD24	Q8TF21	379
CCDC184	FAR2	Q96K12	370
CCDC184	LGI2	Q8N0V4	365
CCDC184	ASB8	Q9H765	360
CCDC184	SYT16	Q17RD7	358
CCDC184	ZNF454	Q8N9F8	352
CCDC184	BIN2	Q9UBW5	325

IntAct

54 interactions, top by confidence:

A	B	Type	Score
CCDC184	TRAF5	psi-mi:“MI:0915”(physical association)	0.720
CCDC184	STX11	psi-mi:“MI:0915”(physical association)	0.720
CCDC184	GPANK1	psi-mi:“MI:0915”(physical association)	0.720
CCDC184	PBLD	psi-mi:“MI:0915”(physical association)	0.720
CCDC184	RPL9	psi-mi:“MI:0915”(physical association)	0.720
PIN1	CCDC184	psi-mi:“MI:0915”(physical association)	0.720
STX11	CCDC184	psi-mi:“MI:0915”(physical association)	0.720
GPANK1	CCDC184	psi-mi:“MI:0915”(physical association)	0.720
PBLD	CCDC184	psi-mi:“MI:0915”(physical association)	0.720
CCDC184	PIN1	psi-mi:“MI:0915”(physical association)	0.720
TRAF5	CCDC184	psi-mi:“MI:0915”(physical association)	0.720
RPL9	CCDC184	psi-mi:“MI:0915”(physical association)	0.720
CCDC184	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
CCDC184	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
PPP1R13B	CCDC184	psi-mi:“MI:0915”(physical association)	0.560
NTAQ1	CCDC184	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (19): CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid), CCDC184 (Two-hybrid)

ESM2 similar proteins: A0A1B0GVG6, A0A1L8I316, A0A1W2PR82, A0A286YDK6, A5PJD3, A6H7B4, A6NHS1, A6QP24, A6QPM6, D3ZAQ5, O08664, P0DL12, P24097, P43359, P57738, Q08E62, Q0VC19, Q0VD86, Q1EHW4, Q2KIL8, Q32LI3, Q32PA2, Q3T0X9, Q4V8F1, Q52MB2, Q5J2D6, Q5M831, Q63630, Q6K1E7, Q6NUI1, Q6ZW13, Q80VY2, Q8BMK5, Q8C1R3, Q8TAP8, Q8VC23, Q8WUZ0, Q8WW18, Q90932, Q9CQ13

Diamond homologs: Q0VC19, Q4V8F1, Q52MB2, Q8BMK5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	34
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

96 predictions. Top by Δscore:

Variant	Effect	Δscore
12:48185238:G:GT	donor_gain	0.8600
12:48184546:G:GT	donor_gain	0.7100
12:48184592:G:GG	donor_gain	0.6600
12:48184540:G:GT	donor_gain	0.5200
12:48184558:G:GT	donor_gain	0.4400
12:48184591:T:G	donor_gain	0.4400
12:48185138:TGG:T	acceptor_gain	0.4300
12:48185765:AAC:A	acceptor_gain	0.4200
12:48183685:A:AG	donor_gain	0.4100
12:48185140:G:T	acceptor_gain	0.4100
12:48185235:A:AG	donor_gain	0.4100
12:48185769:AG:A	acceptor_gain	0.3900
12:48185770:GG:G	acceptor_gain	0.3900
12:48185233:TA:T	donor_gain	0.3800
12:48185234:AA:A	donor_gain	0.3800
12:48184291:G:GT	donor_gain	0.3700
12:48185114:TAAGG:T	acceptor_gain	0.3600
12:48185115:AAGGA:A	acceptor_gain	0.3600
12:48185116:AGGAA:A	acceptor_gain	0.3600
12:48185797:G:GA	acceptor_gain	0.3600
12:48184590:CT:C	donor_gain	0.3500
12:48185771:G:GT	acceptor_gain	0.3500
12:48185137:CTGG:C	acceptor_gain	0.3400
12:48184597:C:T	donor_gain	0.3300
12:48185118:G:T	acceptor_gain	0.3300
12:48185766:AC:A	acceptor_gain	0.3300
12:48185767:CC:C	acceptor_gain	0.3300
12:48185770:GGGC:G	acceptor_gain	0.3300
12:48185736:C:CT	acceptor_gain	0.3200
12:48185803:T:C	acceptor_gain	0.3200

AlphaMissense

1275 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:48184274:T:C	L51P	1.000
12:48184262:T:C	L47P	0.999
12:48184285:T:C	F55L	0.999
12:48184287:T:A	F55L	0.999
12:48184287:T:G	F55L	0.999
12:48184337:T:C	I72T	0.999
12:48184379:T:A	I86N	0.999
12:48184283:T:C	L54P	0.998
12:48184291:G:C	D57H	0.998
12:48184292:A:T	D57V	0.998
12:48184337:T:A	I72N	0.998
12:48184337:T:G	I72S	0.998
12:48184346:T:A	L75H	0.998
12:48184346:T:C	L75P	0.998
12:48184348:T:C	S76P	0.998
12:48184368:C:A	N82K	0.998
12:48184368:C:G	N82K	0.998
12:48184371:G:C	Q83H	0.998
12:48184371:G:T	Q83H	0.998
12:48184379:T:G	I86S	0.998
12:48184390:T:C	C90R	0.998
12:48184250:T:C	L43P	0.997
12:48184292:A:C	D57A	0.997
12:48184307:G:T	R62M	0.997
12:48184316:T:C	L65P	0.997
12:48184373:G:C	R84P	0.997
12:48184375:G:C	A85P	0.997
12:48184265:A:T	K48I	0.996
12:48184291:G:T	D57Y	0.996
12:48184354:G:C	D78H	0.996

dbSNP variants (sampled 300 via entrez): RS1000136997 (12:48181801 T>A,C,G), RS1000355105 (12:48184231 A>G,T), RS1000447061 (12:48183362 G>A), RS1001380504 (12:48184773 G>A), RS1002443873 (12:48185867 G>T), RS1002905016 (12:48185518 G>A,T), RS1002915324 (12:48182815 A>C), RS1004401381 (12:48185493 G>A), RS1004753439 (12:48185771 G>C,T), RS1006236116 (12:48182749 A>C), RS1006257394 (12:48185350 T>A), RS1007293867 (12:48183686 T>C), RS1007653650 (12:48183913 C>T), RS1008242076 (12:48185109 G>A), RS1008712235 (12:48184861 G>A,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

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	7
bisphenol A	decreases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	increases methylation, decreases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Endosulfan	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Lipopolysaccharides	increases expression, decreases reaction	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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