CCDC201

Summary

CCDC201 (coiled-coil domain containing 201, HGNC:54081) is a protein-coding gene on chromosome 7p12.3, encoding Coiled-coil domain-containing protein 201 (A0A1B0GTI1).

At a glance

• MANE Select transcript: NM_001395235

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:54081
Approved symbol	CCDC201
Name	coiled-coil domain containing 201
Location	7p12.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283247
Ensembl biotype	protein_coding
OMIM	621299
Entrez	114515518

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000636578

RefSeq mRNA: 1 — MANE Select: NM_001395235 NM_001395235

CCDS: CCDS94096

Canonical transcript exons

ENST00000636578 — 3 exons

Exon	Start	End
ENSE00003792296	45866036	45866494
ENSE00003794505	45859994	45863171
ENSE00003795866	45872990	45873082

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 62.97.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0082 / max 13.3702, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83940	0.0082	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
placenta	UBERON:0001987	62.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	55.09	silver quality
cortical plate	UBERON:0005343	39.83	gold quality
sural nerve	UBERON:0015488	39.48	gold quality
skeletal muscle tissue	UBERON:0001134	39.08	gold quality
stromal cell of endometrium	CL:0002255	38.71	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.15	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
muscle tissue	UBERON:0002385	35.25	gold quality
apex of heart	UBERON:0002098	34.68	gold quality
bone marrow	UBERON:0002371	32.78	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
mucosa of stomach	UBERON:0001199	31.68	gold quality
leukocyte	CL:0000738	30.65	gold quality
monocyte	CL:0000576	30.34	gold quality
tonsil	UBERON:0002372	30.14	gold quality
prefrontal cortex	UBERON:0000451	29.76	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	28.74	gold quality
right uterine tube	UBERON:0001302	28.41	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
endometrium	UBERON:0001295	27.55	gold quality
blood	UBERON:0000178	27.54	gold quality
urinary bladder	UBERON:0001255	27.45	gold quality
left uterine tube	UBERON:0001303	27.28	gold quality
islet of Langerhans	UBERON:0000006	27.22	gold quality
cortex of kidney	UBERON:0001225	26.92	gold quality
kidney	UBERON:0002113	26.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.61

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency. (PMID:39192094)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm14891	ENSMUSG00000081341
mus_musculus	Ccdc201	ENSMUSG00000087512
rattus_norvegicus	Ccdc201	ENSRNOG00000068472

Protein

Protein identifiers

Coiled-coil domain-containing protein 201 — A0A1B0GTI1 (reviewed: A0A1B0GTI1)

All UniProt accessions (1): A0A1B0GTI1

RefSeq proteins (1): NP_001382164* (*=MANE)

Domains & families (InterPro)

UniProt features (5 total): region of interest 2, chain 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GTI1-F1	66.54	0.14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr7p12

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

76 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC201	C1orf232	A0A0U1RR37	786
CCDC201	EDDM13	A0A1B0GTR0	774
CCDC201	C10orf143	A0A1B0GUT2	713
CCDC201	OR4F5	Q8NH21	645
CCDC201	SMIM31	A0A1B0GVY4	630
CCDC201	SRFBP1	Q8NEF9	604
CCDC201	SMIM36	A0A1B0GVT2	600
CCDC201	SMIM38	A0A286YFK9	586
CCDC201	SMIM41	A0A2R8YCJ5	585
CCDC201	SCYGR7	A0A286YF01	580
CCDC201	TMDD1	P0DPE3	580
CCDC201	FAM240C	A0A1B0GVR7	571
CCDC201	TBRG4	Q969Z0	562
CCDC201	FTMT	Q8N4E7	528
CCDC201	TSKU	Q8WUA8	526

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GTI1, A2BIL8, A5PKK9, C5DY61, E2QSX5, E7F555, O35147, O43151, P11805, P19416, P24940, P27579, Q06616, Q17QE3, Q1LZE2, Q1RMQ5, Q1T763, Q28CW2, Q2HR82, Q2TBN9, Q3B8E9, Q3ZBS1, Q567C6, Q5RDK8, Q62417, Q68FW2, Q6AY26, Q6DFB0, Q6P6I6, Q6PKN7, Q80U49, Q86YL5, Q8C3W1, Q8QVM1, Q8VEB3, Q8VI59, Q96FT9, Q96GV9, Q96GY3, Q99618

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 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

197 predictions. Top by Δscore:

Variant	Effect	Δscore
7:45863172:C:CC	acceptor_gain	0.9700
7:45866040:G:C	donor_gain	0.9700
7:45866068:T:TA	donor_gain	0.9700
7:45866030:GCATA:G	donor_loss	0.9600
7:45866031:CATAC:C	donor_loss	0.9600
7:45866032:ATACC:A	donor_loss	0.9600
7:45866033:TA:T	donor_loss	0.9600
7:45866034:ACC:A	donor_loss	0.9600
7:45866035:CCG:C	donor_gain	0.9600
7:45863168:CCAT:C	acceptor_gain	0.9500
7:45863169:CATC:C	acceptor_gain	0.9500
7:45863169:CATCT:C	acceptor_loss	0.9500
7:45863171:TC:T	acceptor_loss	0.9500
7:45863172:C:A	acceptor_loss	0.9500
7:45863173:T:G	acceptor_loss	0.9500
7:45866034:A:AC	donor_gain	0.9500
7:45866035:C:CC	donor_gain	0.9500
7:45866072:C:CA	donor_gain	0.9500
7:45863174:G:C	acceptor_loss	0.9300
7:45864828:A:AC	acceptor_gain	0.9300
7:45864829:G:C	acceptor_gain	0.9300
7:45863169:CAT:C	acceptor_gain	0.9200
7:45866050:T:TA	donor_gain	0.9200
7:45866034:AC:A	donor_gain	0.8200
7:45866035:CC:C	donor_gain	0.8200
7:45863246:GCTTT:G	acceptor_gain	0.8100
7:45866039:AGCTG:A	donor_gain	0.8100
7:45865221:C:CT	donor_gain	0.7600
7:45865222:T:TT	donor_gain	0.7600
7:45863167:TCCAT:T	acceptor_gain	0.7400

AlphaMissense

1199 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:45863151:C:A	W166C	0.995
7:45863151:C:G	W166C	0.995
7:45863120:C:G	A177P	0.990
7:45863104:A:G	L182P	0.985
7:45863153:A:G	W166R	0.980
7:45863153:A:T	W166R	0.980
7:45863137:A:G	L171P	0.971
7:45863152:C:G	W166S	0.965
7:45863106:C:A	E181D	0.956
7:45863106:C:G	E181D	0.956
7:45863110:T:G	H180P	0.955
7:45863158:C:G	R164P	0.955
7:45863128:A:T	I174N	0.951
7:45863128:A:C	I174S	0.949
7:45863109:A:C	H180Q	0.948
7:45863109:A:T	H180Q	0.948
7:45863148:C:A	E167D	0.948
7:45863148:C:G	E167D	0.948
7:45863111:G:C	H180D	0.944
7:45863164:C:G	R162P	0.944
7:45863107:T:A	E181V	0.934
7:45863104:A:T	L182H	0.933
7:45863152:C:A	W166L	0.933
7:45863107:T:C	E181G	0.932
7:45863137:A:T	L171H	0.928
7:45863098:A:T	I184N	0.920
7:45863119:G:T	A177D	0.918
7:45866088:A:G	I142T	0.918
7:45863149:T:A	E167V	0.917
7:45863134:T:G	Q172P	0.912

dbSNP variants (sampled 300 via entrez): RS1000082648 (7:45877476 T>C), RS1000170113 (7:45859641 T>C), RS1000200112 (7:45878674 A>G), RS1000344509 (7:45865137 G>C), RS1000395408 (7:45883963 TTCTTTTTC>T), RS1000559986 (7:45860766 G>A,C,T), RS1000594389 (7:45867065 A>G), RS1000711413 (7:45866416 G>C), RS1000779193 (7:45864876 G>A), RS1001170308 (7:45876600 T>C), RS1001188515 (7:45871230 T>C), RS1001357279 (7:45881977 T>C), RS1001457067 (7:45882603 G>A), RS1001554922 (7:45861525 T>C,G), RS1001766255 (7:45864324 G>A)

Disease associations

OMIM: gene MIM:621299 | 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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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