CCDC200

Summary

CCDC200 (coiled-coil domain containing 200, HGNC:43658) is a protein-coding gene on chromosome 17q21.31, encoding Coiled-coil domain-containing protein 200 (A0A1B0GVQ3).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001363254

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:43658
Approved symbol	CCDC200
Name	coiled-coil domain containing 200
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000236383
Ensembl biotype	protein_coding
Entrez	100874261

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 9 nonsense_mediated_decay, 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000427995, ENST00000433702, ENST00000593624, ENST00000594691, ENST00000594857, ENST00000595400, ENST00000597948, ENST00000598128, ENST00000598568, ENST00000598934, ENST00000599491, ENST00000600764, ENST00000608223, ENST00000615433, ENST00000619529, ENST00000636331

RefSeq mRNA: 1 — MANE Select: NM_001363254 NM_001363254

CCDS: CCDS92329

Canonical transcript exons

ENST00000636331 — 4 exons

Exon	Start	End
ENSE00003196403	43224234	43224549
ENSE00003797071	43228450	43228623
ENSE00003797248	43223556	43223614
ENSE00003936446	43221420	43221597

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.90.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	96.90	gold quality
left testis	UBERON:0004533	96.62	gold quality
testis	UBERON:0000473	95.76	gold quality
sural nerve	UBERON:0015488	92.25	gold quality
monocyte	CL:0000576	87.60	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.74	gold quality
leukocyte	CL:0000738	86.58	gold quality
kidney	UBERON:0002113	84.98	gold quality
spleen	UBERON:0002106	84.66	gold quality
cortex of kidney	UBERON:0001225	84.36	gold quality
adult mammalian kidney	UBERON:0000082	83.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.53	gold quality
bone marrow cell	CL:0002092	83.19	gold quality
blood	UBERON:0000178	82.78	gold quality
granulocyte	CL:0000094	81.30	gold quality
metanephros cortex	UBERON:0010533	81.28	gold quality
right lobe of thyroid gland	UBERON:0001119	81.09	gold quality
ovary	UBERON:0000992	80.77	gold quality
right ovary	UBERON:0002118	80.48	gold quality
left ovary	UBERON:0002119	80.33	gold quality
vermiform appendix	UBERON:0001154	79.97	gold quality
bone marrow	UBERON:0002371	79.97	gold quality
mucosa of stomach	UBERON:0001199	79.86	gold quality
thyroid gland	UBERON:0002046	79.79	gold quality
colonic epithelium	UBERON:0000397	79.63	gold quality
upper lobe of left lung	UBERON:0008952	79.62	gold quality
left lobe of thyroid gland	UBERON:0001120	79.55	gold quality
smooth muscle tissue	UBERON:0001135	79.06	gold quality
stromal cell of endometrium	CL:0002255	79.02	gold quality
calcaneal tendon	UBERON:0003701	79.01	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.07
E-GEOD-111727	no	1249.54
E-ENAD-27	no	4.28

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc200	ENSMUSG00000085486
rattus_norvegicus	Ccdc200	ENSRNOG00000061008

Protein

Protein identifiers

Coiled-coil domain-containing protein 200 — A0A1B0GVQ3 (reviewed: A0A1B0GVQ3)

All UniProt accessions (7): A0A1B0GVQ3, A0A1B0GTD9, A0A1B0GU98, A0A1B0GVJ5, A0A1B0GVX4, A0A1B0GVZ7, A0A1B0GW31

RefSeq proteins (1): NP_001350183* (*=MANE)

Domains & families (InterPro)

UniProt features (9 total): compositionally biased region 6, chain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GVQ3-F1	64.48	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): DESCARTES_FETAL_ADRENAL_MYELOID_CELLS, DESCARTES_FETAL_CEREBELLUM_MICROGLIA, DESCARTES_FETAL_CEREBRUM_MICROGLIA, OSMAN_BLOOD_CHAD63_KH_AGE_18_50YO_HIGH_DOSE_SUBJECTS_24HR_UP, GENES_CORRELATED_WITH_RHOA_DELETION, chr17q21

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

68 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC200	PEAK3	Q6ZS72	571
CCDC200	THNSL2	Q86YJ6	444
CCDC200	WDR72	Q3MJ13	413
CCDC200	ARHGAP45	Q92619	400
CCDC200	ADAMTSL2	Q86TH1	396
CCDC200	AJAP1	Q9UKB5	370
CCDC200	ZNF736	B4DX44	366
CCDC200	ANO2	Q9NQ90	356
CCDC200	HFM1	A2PYH4	352
CCDC200	PTPN3	P26045	336
CCDC200	CFAP20DC	Q6ZVT6	328
CCDC200	SGCG	Q13326	318
CCDC200	LEMD3	Q9Y2U8	311
CCDC200	TMEM52	Q8NDY8	311
CCDC200	METTL23	Q86XA0	278

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVQ3, A0A1W2PPK0, A0A1W2PPM1, A2A9I7, A6NCI8, A6QQS3, A7XCE8, E9PI22, E9PXT9, O15016, O91083, P09414, P0DMB1, P17923, P18804, P20879, P35965, P49750, Q0P670, Q12857, Q1RMX6, Q32LN6, Q32MG2, Q3B8N5, Q3T016, Q3V0A6, Q4JK59, Q5BI31, Q5T035, Q5ZKH6, Q642A3, Q6AXV6, Q6IMN6, Q6P1W5, Q6PEX7, Q6X4T0, Q80YD3, Q86UF4, Q8BII1, Q8C5V0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

343 predictions. Top by Δscore:

Variant	Effect	Δscore
17:43217258:GCAAA:G	acceptor_gain	1.0000
17:43217313:G:GG	donor_gain	1.0000
17:43217258:GCA:G	acceptor_gain	0.9900
17:43217255:TCAG:T	acceptor_loss	0.9800
17:43217257:A:AG	acceptor_gain	0.9800
17:43217258:G:GG	acceptor_gain	0.9800
17:43217258:GC:G	acceptor_gain	0.9800
17:43217258:GCAA:G	acceptor_gain	0.9800
17:43217260:A:AG	acceptor_gain	0.9800
17:43216962:A:AG	acceptor_gain	0.9700
17:43217261:A:G	acceptor_gain	0.9700
17:43217309:TCCA:T	donor_gain	0.9700
17:43217310:CCA:C	donor_gain	0.9700
17:43217311:CA:C	donor_gain	0.9600
17:43217308:ATCCA:A	donor_gain	0.9500
17:43217311:CAGT:C	donor_loss	0.9500
17:43217312:AG:A	donor_loss	0.9500
17:43217313:G:A	donor_loss	0.9500
17:43217314:TAAGT:T	donor_loss	0.9500
17:43217315:AA:A	donor_loss	0.9500
17:43217316:AG:A	donor_loss	0.9500
17:43217317:G:C	donor_loss	0.9400
17:43217650:GCCAT:G	acceptor_gain	0.9300
17:43217056:G:GG	donor_gain	0.8700
17:43217262:A:G	acceptor_gain	0.8600
17:43217678:CA:C	acceptor_loss	0.8300
17:43217680:G:T	acceptor_loss	0.8300
17:43217679:AG:A	acceptor_gain	0.8200
17:43217679:AGG:A	acceptor_gain	0.8200
17:43217680:GG:G	acceptor_gain	0.8200

AlphaMissense

1087 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:43221576:A:G	W168R	0.988
17:43221576:A:T	W168R	0.988
17:43221574:C:A	W168C	0.974
17:43221574:C:G	W168C	0.974
17:43221575:C:G	W168S	0.945
17:43221575:C:A	W168L	0.915
17:43221576:A:C	W168G	0.823
17:43221577:C:A	Q167H	0.766
17:43221577:C:G	Q167H	0.766
17:43221596:G:A	S161F	0.756
17:43221580:C:A	Q166H	0.729
17:43221580:C:G	Q166H	0.729
17:43221588:A:G	Y164H	0.728
17:43221589:A:C	N163K	0.703
17:43221589:A:T	N163K	0.703
17:43221590:T:A	N163I	0.668
17:43221587:T:G	Y164S	0.657
17:43221588:A:C	Y164D	0.603
17:43223560:A:G	L159P	0.599
17:43221597:A:G	S161P	0.597
17:43221588:A:T	Y164N	0.579
17:43223556:C:A	K160N	0.574
17:43223556:C:G	K160N	0.574
17:43221578:T:G	Q167P	0.569

dbSNP variants (sampled 300 via entrez): RS1000376047 (17:43223441 A>T), RS1000406989 (17:43226186 A>G), RS1001284195 (17:43221497 C>G), RS1001345434 (17:43222245 A>AACCTCC), RS1001952185 (17:43224405 G>A), RS1002680243 (17:43227178 C>T), RS1002684563 (17:43221406 C>G,T), RS1003111438 (17:43223165 C>T), RS1003128507 (17:43221046 TG>T), RS1003177392 (17:43226223 C>T), RS1003448861 (17:43221638 C>G), RS1003917507 (17:43226168 G>A), RS1004348082 (17:43226586 G>A), RS1004919639 (17:43224381 G>A), RS1005297491 (17:43221586 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

1 associations (top):

Study	Trait	p-value
GCST90002398_276	Neutrophil count	2.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004833	neutrophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
dicrotophos	increases expression	1
di-n-butylphosphoric acid	affects expression	1
fipronil	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
DEET	affects cotreatment, decreases expression	1
Oligomycins	increases expression	1
Rotenone	decreases expression, affects response to substance	1
Tobacco Smoke Pollution	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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