CCDC183

Summary

CCDC183 (coiled-coil domain containing 183, HGNC:28236) is a protein-coding gene on chromosome 9q34.3, encoding Coiled-coil domain-containing protein 183 (Q5T5S1).

At a glance

• Clinical variants (ClinVar): 114 total — 2 likely-pathogenic
• MANE Select transcript: NM_001039374

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28236
Approved symbol	CCDC183
Name	coiled-coil domain containing 183
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC15438, bA216L13.7
Ensembl gene	ENSG00000213213
Ensembl biotype	protein_coding
OMIM	615955
Entrez	84960

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 3 protein_coding_CDS_not_defined, 3 retained_intron, 1 protein_coding, 1 nonsense_mediated_decay

ENST00000338005, ENST00000371682, ENST00000430612, ENST00000479371, ENST00000481601, ENST00000484858, ENST00000496839, ENST00000609471

RefSeq mRNA: 1 — MANE Select: NM_001039374 NM_001039374

CCDS: CCDS43906

Canonical transcript exons

ENST00000338005 — 14 exons

Exon	Start	End
ENSE00001829623	136807572	136807741
ENSE00001956386	136796338	136796467
ENSE00003498062	136806757	136806867
ENSE00003499900	136800002	136800169
ENSE00003503310	136806504	136806672
ENSE00003536959	136799713	136799790
ENSE00003624117	136799102	136799223
ENSE00003641658	136805357	136805457
ENSE00003654052	136806078	136806238
ENSE00003663645	136802664	136802786
ENSE00003667420	136800389	136800493
ENSE00003683224	136806970	136807066
ENSE00003692657	136804762	136804816
ENSE00003694563	136804502	136804627

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 95.79.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8124 / max 45.7009, expressed in 300 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99551	0.3274	162
99553	0.2215	90
99552	0.1587	73
99549	0.0339	11
99547	0.0275	10
99544	0.0221	3
99548	0.0213	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	95.79	gold quality
right testis	UBERON:0004534	95.68	gold quality
testis	UBERON:0000473	94.98	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.66	gold quality
cerebellar hemisphere	UBERON:0002245	91.55	gold quality
cerebellar cortex	UBERON:0002129	91.42	gold quality
cerebellum	UBERON:0002037	91.33	gold quality
pituitary gland	UBERON:0000007	90.37	gold quality
lower esophagus mucosa	UBERON:0035834	88.32	gold quality
adenohypophysis	UBERON:0002196	88.18	gold quality
prostate gland	UBERON:0002367	87.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.99	gold quality
transverse colon	UBERON:0001157	85.22	gold quality
apex of heart	UBERON:0002098	84.57	gold quality
left ovary	UBERON:0002119	84.53	gold quality
right ovary	UBERON:0002118	84.27	gold quality
sural nerve	UBERON:0015488	84.05	gold quality
right uterine tube	UBERON:0001302	84.04	gold quality
left lobe of thyroid gland	UBERON:0001120	83.38	gold quality
body of pancreas	UBERON:0001150	83.34	gold quality
ovary	UBERON:0000992	82.71	gold quality
thyroid gland	UBERON:0002046	82.63	gold quality
metanephros cortex	UBERON:0010533	82.22	gold quality
right lobe of thyroid gland	UBERON:0001119	82.18	gold quality
mucosa of transverse colon	UBERON:0004991	81.54	gold quality
fundus of stomach	UBERON:0001160	81.22	gold quality
body of stomach	UBERON:0001161	81.08	gold quality
right frontal lobe	UBERON:0002810	80.71	gold quality
heart left ventricle	UBERON:0002084	80.34	gold quality
right atrium auricular region	UBERON:0006631	79.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.65

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Coiled-coil domain-containing protein 183 — Q5T5S1 (reviewed: Q5T5S1)

All UniProt accessions (2): G5E9W6, Q5T5S1

UniProt curated annotations — full annotation on UniProt →

Isoforms (4)

UniProt ID	Names	Canonical?
Q5T5S1-1	1	yes
Q5T5S1-2	2
Q5T5S1-3	3
Q5T5S1-4	4

RefSeq proteins (1): NP_001034463* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR043247	CCDC183	Family

UniProt features (16 total): splice variant 7, sequence variant 5, coiled-coil region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T5S1-F1	81.98	0.49

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 31 (showing top): PEDRIOLI_MIR31_TARGETS_UP, chr9q34, CHAF1B_TARGET_GENES, CREB3L4_TARGET_GENES, GREB1_TARGET_GENES, ID2_TARGET_GENES, SNRNP70_TARGET_GENES, ZFHX3_TARGET_GENES, ZNF592_TARGET_GENES, HAY_BONE_MARROW_DENDRITIC_CELL, DESCARTES_MAIN_FETAL_AFP_ALB_POSITIVE_CELLS, BPTF_TARGET_GENES, ZBED5_TARGET_GENES, ZBTB44_TARGET_GENES, ZNF740_TARGET_GENES

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

314 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC183	TMEM141	Q96I45	628
CCDC183	RABL6	Q3YEC7	625
CCDC183	GPR151	Q8TDV0	599
CCDC183	LCN12	Q6JVE5	589
CCDC183	MAMDC4	Q6UXC1	575
CCDC183	KCNS2	Q9ULS6	540
CCDC183	TMEM51	Q9NW97	536
CCDC183	HAPLN4	Q86UW8	530
CCDC183	NPDC1	Q9NQX5	523
CCDC183	STK32B	Q9NY57	519
CCDC183	USP46	P62068	473
CCDC183	ABCA2	Q9BZC7	469
CCDC183	C16orf46	Q6P387	448
CCDC183	C3orf62	Q6ZUJ4	431
CCDC183	TENM4	Q6N022	422

IntAct

6 interactions, top by confidence:

A	B	Type	Score
CCDC183	HSPA5	psi-mi:“MI:0915”(physical association)	0.400
ZMYND19	CCDC183	psi-mi:“MI:0915”(physical association)	0.400
CCDC183	PCNT	psi-mi:“MI:0914”(association)	0.350
PRSS45P	FAM76B	psi-mi:“MI:0914”(association)	0.350
CCDC183	CUL7	psi-mi:“MI:0914”(association)	0.350

BioGRID (97): BCR (Affinity Capture-MS), NRBF2 (Affinity Capture-MS), FOXP1 (Affinity Capture-MS), RABEP1 (Affinity Capture-MS), CEP131 (Affinity Capture-MS), NDEL1 (Affinity Capture-MS), NDE1 (Affinity Capture-MS), RABGEF1 (Affinity Capture-MS), DIAPH3 (Affinity Capture-MS), CCDC14 (Affinity Capture-MS), GRIPAP1 (Affinity Capture-MS), ANKFY1 (Affinity Capture-MS), PCM1 (Affinity Capture-MS), ARHGEF12 (Affinity Capture-MS), PCNT (Affinity Capture-MS)

ESM2 similar proteins: A0JMY4, A2AJB1, A3KQH2, A7RNG8, B1H228, E9Q9F7, F1N2N9, F1RKB1, M1V4Y8, Q0VFX2, Q16VW9, Q17QH9, Q28G12, Q2TA00, Q2TAA8, Q3KPZ2, Q3SZX9, Q3T0L1, Q3USS3, Q3UX62, Q3UZ57, Q4R6I5, Q4R8Y5, Q4V7B0, Q502W7, Q5T1B0, Q5T5S1, Q5XIR6, Q5XIR8, Q66H60, Q68CZ6, Q6DCY9, Q6DHI2, Q6PA15, Q8BSN3, Q8C5T8, Q8CDN8, Q8CDV6, Q8IWF9, Q8NA47

Diamond homologs: A2AJB1, Q5T5S1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	101
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1184863	NM_001039374.5(CCDC183):c.1025G>A (p.Trp342Ter)	Likely pathogenic
2691849	NM_001039374.5(CCDC183):c.886C>T (p.Gln296Ter)	Likely pathogenic

SpliceAI

2305 predictions. Top by Δscore:

Variant	Effect	Δscore
9:136796466:GG:G	donor_gain	1.0000
9:136796467:GG:G	donor_gain	1.0000
9:136800149:G:GT	donor_gain	1.0000
9:136800152:GAGC:G	donor_gain	1.0000
9:136800155:C:G	donor_gain	1.0000
9:136800385:CCA:C	acceptor_loss	1.0000
9:136800387:A:T	acceptor_loss	1.0000
9:136800388:G:GA	acceptor_gain	1.0000
9:136800388:GATC:G	acceptor_gain	1.0000
9:136800490:GACA:G	donor_gain	1.0000
9:136800494:G:GG	donor_gain	1.0000
9:136800512:G:GT	donor_gain	1.0000
9:136800512:G:T	donor_gain	1.0000
9:136802782:TCAAG:T	donor_loss	1.0000
9:136802783:CAAG:C	donor_loss	1.0000
9:136802785:AGGTG:A	donor_loss	1.0000
9:136802786:GGTG:G	donor_loss	1.0000
9:136802787:G:GA	donor_loss	1.0000
9:136802788:T:A	donor_loss	1.0000
9:136804492:A:AG	acceptor_gain	1.0000
9:136804493:T:G	acceptor_gain	1.0000
9:136804500:A:AG	acceptor_gain	1.0000
9:136804500:AGAG:A	acceptor_gain	1.0000
9:136804501:G:GA	acceptor_gain	1.0000
9:136804501:GA:G	acceptor_gain	1.0000
9:136804501:GAGG:G	acceptor_gain	1.0000
9:136804501:GAGGA:G	acceptor_gain	1.0000
9:136804615:G:GT	donor_gain	1.0000
9:136804623:GCCGG:G	donor_gain	1.0000
9:136804626:GG:G	donor_gain	1.0000

AlphaMissense

3561 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:136804542:G:C	R236P	0.968
9:136802698:T:C	L193P	0.945
9:136800474:T:C	L175P	0.943
9:136800486:T:C	L179P	0.936
9:136807630:G:C	K515N	0.931
9:136807630:G:T	K515N	0.931
9:136802689:T:C	L190P	0.927
9:136800443:A:C	S165R	0.926
9:136800445:C:A	S165R	0.926
9:136800445:C:G	S165R	0.926
9:136802760:G:C	A214P	0.925
9:136804563:T:C	L243P	0.907
9:136806213:T:C	F362L	0.906
9:136806215:C:A	F362L	0.906
9:136806215:C:G	F362L	0.906
9:136800032:T:C	F101L	0.890
9:136800034:C:A	F101L	0.890
9:136800034:C:G	F101L	0.890
9:136806821:T:C	L448P	0.886
9:136800402:T:C	L151P	0.881
9:136800464:T:G	Y172D	0.881
9:136800396:G:C	R149P	0.880
9:136807616:C:A	R511S	0.880
9:136804547:G:C	A238P	0.879
9:136807626:T:C	I514T	0.872
9:136806644:T:C	L417P	0.869
9:136806632:T:C	L413P	0.862
9:136806093:T:C	F322L	0.860
9:136806095:C:A	F322L	0.860
9:136806095:C:G	F322L	0.860

dbSNP variants (sampled 300 via entrez): RS1000208688 (9:136798953 C>A,T), RS1000274682 (9:136807463 G>A,C,T), RS1000549405 (9:136797954 G>C), RS1000648900 (9:136803369 A>C,G,T), RS1000881418 (9:136806278 T>A,C), RS1000929729 (9:136802182 A>G), RS1000980689 (9:136802392 G>A,C,T), RS1001139568 (9:136796782 C>T), RS1001210274 (9:136803742 G>A), RS1001258309 (9:136807454 G>A), RS1001262729 (9:136803854 C>T), RS1001333323 (9:136806538 C>G,T), RS1001591305 (9:136803685 G>A,C), RS1001723056 (9:136798252 C>A,T), RS1002148538 (9:136807893 G>A,C)

Disease associations

OMIM: gene MIM:615955 | disease phenotypes: MIM:190300

GenCC curated gene-disease

Mondo (1): essential tremor (MONDO:0003233)

Orphanet (1): NON RARE IN EUROPE: Hereditary essential tremor (Orphanet:862)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020329	Essential Tremor	C10.228.662.350

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
methylmercuric chloride	decreases expression	1
bisphenol A	affects expression	1
dimethylselenide	increases expression, increases oxidation	1
butyraldehyde	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Atrazine	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	decreases expression	1
Ozone	increases expression, increases oxidation	1
Smoke	decreases expression	1
Thimerosal	decreases expression	1
Urethane	decreases expression	1
Hydroxyl Radical	increases expression, increases oxidation	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00439699	PHASE4	COMPLETED	A Pilot Clinical Trial Of Memantine for Essential Tremor
NCT00584376	PHASE4	COMPLETED	Pregabalin (Lyrica) for the Treatment of Essential Tremor
NCT00998660	PHASE4	COMPLETED	RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR)
NCT02111369	PHASE4	COMPLETED	Propranolol and Botulinum Toxin for Essential Vocal Tremor
NCT02495883	PHASE4	COMPLETED	Functional Imaging of Tremor Circuits and Mechanisms of Treatment Response
NCT00018564	PHASE3	COMPLETED	Novel Therapies for Essential Tremor
NCT00236496	PHASE3	COMPLETED	A Comparison of the Efficacy and Safety of Topiramate Versus Placebo in Treating Tremor of Unknown Cause.
NCT01441284	PHASE3	WITHDRAWN	Efficacy of Pramipexole Extended Release in the Treatment of Essential Tremor
NCT04193527	PHASE3	COMPLETED	A Study to Evaluate the Diagnostic Efficacy of DaTSCAN™ Ioflupane (123I) Injection in Single Photon Emission Computed Tomography (SPECT) for the Diagnosis of Parkinsonian Syndrome (PS) in Chinese Patients
NCT04265209	PHASE3	COMPLETED	[18F] LBT-999 PET Compared to [123I]-FP/CIT SPECT to Distinguish Between Parkinson’s Diseases and Essential Tremor
NCT06087276	PHASE3	ENROLLING_BY_INVITATION	Essential 3 - Decentralized, Phase 3 Study Evaluating the Safety and Efficacy of Ulixacaltamide in Essential Tremor (ET)
NCT00080366	PHASE2	COMPLETED	Octanol to Treat Essential Tremor
NCT00102596	PHASE2	COMPLETED	Clinical Trial Characterizing the Bioavailability of 1-Octanol in Adults With Ethanol-responsive Essential Tremor
NCT00223743	PHASE2	COMPLETED	A Safety/Efficacy Trial of Zonisamide for Essential Tremor
NCT00321087	PHASE2	TERMINATED	A Study of T2000 in Essential Tremor
NCT00598078	PHASE2	COMPLETED	Multiple-dose,Double-blind,Placebo-controlled Study of Sodium Oxybate in Patients With Essential Tremor
NCT00655278	PHASE2	TERMINATED	T2000 in Essential Tremor - Open Label Continuation
NCT01332695	PHASE2	COMPLETED	A Pilot Efficacy and Safety Study of ST101 in Essential Tremor
NCT02277106	PHASE2	COMPLETED	Evaluate SAGE-547 in Participants With Essential Tremor
NCT02551848	PHASE2	UNKNOWN	Kinematic-based BoNT-A Injections for Bilateral ET
NCT02668146	PHASE2	UNKNOWN	An Efficacy/Safety Study of Perampanel for Reducing Essential Tremor
NCT02978781	PHASE2	COMPLETED	A Study to Evaluate SAGE-217 in Participants With Essential Tremor
NCT03101241	PHASE2	COMPLETED	A Phase 2 RCT Study of CX-8998 for Essential Tremor
NCT03688685	PHASE2	COMPLETED	A Clinical Study to Evaluate CAD-1883 in Essential Tremor
NCT03780426	PHASE2	COMPLETED	tSMS in Essential Tremor
NCT04305275	PHASE2	COMPLETED	A Study to Evaluate the Efficacy, Safety, and Tolerability of SAGE-324 in Participants With Essential Tremor
NCT04727658	PHASE2	TERMINATED	Linac FRACtionated Radiosurgical THALamotomie in Tremors (FRACTHAL)
NCT04880616	PHASE2	COMPLETED	Safety, Efficacy, and Tolerability of NBI-827104 for the Treatment of Essential Tremor
NCT05021978	PHASE2	COMPLETED	A Clinical Trial of PRAX-944 in Participants With Essential Tremor
NCT05021991	PHASE2	COMPLETED	A Clinical Trial of 2 Doses of PRAX-944 in Participants With Essential Tremor
NCT05122650	PHASE2	COMPLETED	A Study To Assess the Safety and Efficacy of JZP385 in the Treatment of Adults With Moderate to Severe Essential Tremor (ET)
NCT05173012	PHASE2	COMPLETED	Study to Evaluate SAGE-324 in Participants With Essential Tremor
NCT05387642	PHASE2	WITHDRAWN	A Clinical Trial of PRAX-114 in Participants With Essential Tremor
NCT06312800	PHASE2	WITHDRAWN	Acamprosate and Methazolamide for Essential Tremor
NCT06821906	PHASE2	RECRUITING	Stereotactic Radiosurgery in the Treatment of Essential Tremor
NCT07074002	PHASE2	RECRUITING	Proof of Concept Study on BP1.4979 Effect on Essential Tremor
NCT07103265	PHASE2	NOT_YET_RECRUITING	Developing a New LIFU Neuromodulation Method to Suppress Tremor
NCT00001986	PHASE1	COMPLETED	1-Octanol to Treat Essential Tremor
NCT00016679	PHASE1	COMPLETED	1-Octanol to Treat Essential Tremor
NCT01304758	PHASE1	COMPLETED	ExAblate Transcranial MR Guided Focused Ultrasound in the Treatment of Essential Tremor