CCDC150

Summary

CCDC150 (coiled-coil domain containing 150, HGNC:26834) is a protein-coding gene on chromosome 2q33.1, encoding Coiled-coil domain-containing protein 150 (Q8NCX0).

At a glance

• Clinical variants (ClinVar): 190 total
• MANE Select transcript: NM_001080539

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26834
Approved symbol	CCDC150
Name	coiled-coil domain containing 150
Location	2q33.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ39660
Ensembl gene	ENSG00000144395
Ensembl biotype	protein_coding
Entrez	284992

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 11 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 3 retained_intron, 2 protein_coding

ENST00000389175, ENST00000409270, ENST00000424427, ENST00000431807, ENST00000448409, ENST00000460114, ENST00000461243, ENST00000461825, ENST00000463826, ENST00000465092, ENST00000469429, ENST00000471033, ENST00000471546, ENST00000483877, ENST00000487663, ENST00000494389, ENST00000495513, ENST00000497159, ENST00000498512

RefSeq mRNA: 4 — MANE Select: NM_001080539 NM_001080539, NM_001353339, NM_001353340, NM_001412753

CCDS: CCDS46478

Canonical transcript exons

ENST00000389175 — 28 exons

Exon	Start	End
ENSE00002207185	196732446	196732801
ENSE00002237029	196712677	196712739
ENSE00002323999	196666719	196666848
ENSE00003472395	196639715	196639778
ENSE00003476453	196656958	196657136
ENSE00003480417	196701109	196701180
ENSE00003497857	196656633	196656853
ENSE00003501404	196646341	196646504
ENSE00003510984	196725973	196726099
ENSE00003511093	196719497	196719666
ENSE00003517647	196729957	196730118
ENSE00003530345	196672345	196672437
ENSE00003532913	196718503	196718631
ENSE00003537971	196732033	196732152
ENSE00003539109	196677293	196677361
ENSE00003546629	196674241	196674348
ENSE00003553016	196676143	196676267
ENSE00003575279	196712145	196712252
ENSE00003602423	196676554	196676731
ENSE00003603409	196720575	196720668
ENSE00003608774	196729193	196729387
ENSE00003618097	196658792	196658860
ENSE00003623872	196669833	196669876
ENSE00003630692	196665567	196665683
ENSE00003632804	196730859	196730945
ENSE00003657674	196695046	196695159
ENSE00003664591	196721522	196721691
ENSE00003679053	196729793	196729861

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 93.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.2435 / max 152.9024, expressed in 954 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24461	3.5867	836
24460	0.6513	366
24462	0.0055	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	93.04	gold quality
left testis	UBERON:0004533	90.63	gold quality
right testis	UBERON:0004534	90.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.21	gold quality
sperm	CL:0000019	88.87	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.82	gold quality
testis	UBERON:0000473	88.29	gold quality
ventricular zone	UBERON:0003053	82.22	gold quality
right lobe of liver	UBERON:0001114	80.72	gold quality
stromal cell of endometrium	CL:0002255	80.06	gold quality
ganglionic eminence	UBERON:0004023	79.67	gold quality
pancreatic ductal cell	CL:0002079	79.30	silver quality
sural nerve	UBERON:0015488	76.58	gold quality
lower esophagus mucosa	UBERON:0035834	75.32	gold quality
kidney epithelium	UBERON:0004819	74.50	gold quality
liver	UBERON:0002107	73.17	gold quality
adrenal tissue	UBERON:0018303	72.90	gold quality
bone marrow cell	CL:0002092	72.06	gold quality
secondary oocyte	CL:0000655	71.88	silver quality
esophagus mucosa	UBERON:0002469	71.75	gold quality
cortex of kidney	UBERON:0001225	70.85	gold quality
mucosa of transverse colon	UBERON:0004991	70.72	gold quality
rectum	UBERON:0001052	70.62	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	70.41	gold quality
calcaneal tendon	UBERON:0003701	69.58	gold quality
skin of leg	UBERON:0001511	69.10	gold quality
right uterine tube	UBERON:0001302	68.99	gold quality
bone marrow	UBERON:0002371	68.95	gold quality
skin of abdomen	UBERON:0001416	68.24	gold quality
vermiform appendix	UBERON:0001154	68.14	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting CCDC150, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-154-3P	99.50	70.05	831
HSA-MIR-487A-3P	99.50	69.95	840
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-2116-5P	99.32	69.34	1273
HSA-MIR-8066	99.05	68.66	1532
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-10526-3P	97.86	64.97	1342
HSA-MIR-3936	97.64	64.47	732
HSA-MIR-4475	97.36	66.95	761
HSA-MIR-122-5P	97.23	64.92	1024
HSA-MIR-1293	96.16	64.69	916
HSA-MIR-9900	96.06	65.48	557
HSA-MIR-3927-5P	94.90	68.11	399

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-75b17.1	ENSDARG00000090935
mus_musculus	Ccdc150	ENSMUSG00000025983
rattus_norvegicus	Ccdc150	ENSRNOG00000013318

Protein

Protein identifiers

Coiled-coil domain-containing protein 150 — Q8NCX0 (reviewed: Q8NCX0)

All UniProt accessions (4): Q8NCX0, B8ZZI4, E9PCV3, F8WCU1

UniProt curated annotations — full annotation on UniProt →

Isoforms (4)

UniProt ID	Names	Canonical?
Q8NCX0-1	1	yes
Q8NCX0-2	2
Q8NCX0-3	3
Q8NCX0-4	4

RefSeq proteins (4): NP_001074008, NP_001340268, NP_001340269, NP_001399682 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038807	CCDC150	Family

UniProt features (17 total): splice variant 7, coiled-coil region 4, sequence conflict 2, chain 1, region of interest 1, sequence variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCX0-F1	74.19	0.13

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 63 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, AACYNNNNTTCCS_UNKNOWN, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, HOOI_ST7_TARGETS_DN, FISCHER_DREAM_TARGETS, TCCCRNNRTGC_UNKNOWN, MARSON_BOUND_BY_E2F4_UNSTIMULATED, WHITFIELD_CELL_CYCLE_S, ZWANG_DOWN_BY_2ND_EGF_PULSE, HSD17B8_TARGET_GENES, MAFG_TARGET_GENES, NKX2_2_TARGET_GENES, SALL4_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

452 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC150	ARMH2	H3BNL8	581
CCDC150	J3KS56	J3KS56	577
CCDC150	CCDC77	Q9BR77	572
CCDC150	GTF3C3	Q9Y5Q9	559
CCDC150	CEP15	Q9HBI5	559
CCDC150	C9orf40	Q8IXQ3	556
CCDC150	NEMP1	O14524	542
CCDC150	CEP85	Q6P2H3	534
CCDC150	CCDC34	Q96HJ3	530
CCDC150	REEP4	Q9H6H4	528
CCDC150	UBALD2	Q8IYN6	516
CCDC150	IQCK	Q8N0W5	514
CCDC150	GSTCD	Q8NEC7	507
CCDC150	DEPDC1B	Q8WUY9	490
CCDC150	ZNF367	Q7RTV3	489

IntAct

11 interactions, top by confidence:

A	B	Type	Score
CCDC150	NUP62	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	CCDC150	psi-mi:“MI:0915”(physical association)	0.560
EFHC1	SRM	psi-mi:“MI:0914”(association)	0.510
CCDC150	CFAP161	psi-mi:“MI:0915”(physical association)	0.000
EFHC1	CCDC150	psi-mi:“MI:0915”(physical association)	0.000
RAD50	CCDC150	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (22): CCDC150 (Two-hybrid), CCDC150 (Two-hybrid), CCDC150 (Affinity Capture-MS), C15orf26 (Affinity Capture-MS), CCDC150 (Affinity Capture-MS), CCDC150 (Proximity Label-MS), CCDC150 (Two-hybrid), CCDC150 (Two-hybrid), EAF1 (Two-hybrid), PRPF18 (Two-hybrid), GOLGA2 (Two-hybrid), CCDC150 (Affinity Capture-MS), CCDC150 (Cross-Linking-MS (XL-MS)), EEA1 (Cross-Linking-MS (XL-MS)), KLHL2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A2R8QCI3, A3KGV1, A3KNA5, A7MD70, B1WB65, B8JK76, F6ZDS4, G5E861, O35550, O35551, P55937, P85001, Q08DR9, Q15276, Q2T9U2, Q4R6W3, Q4R703, Q4R8C3, Q502I3, Q5BJF6, Q5M9N0, Q5PQ23, Q5PR68, Q5R829, Q5RG45, Q5ZKK5, Q66GS9, Q66KE8, Q6AYX5, Q6NRC9, Q6NRW2, Q6NY15, Q6P5D4, Q6ZU80, Q80UF4, Q811U3, Q86SQ7, Q8BI22, Q8CDI6, Q8CDI7

Diamond homologs: Q8CDI7, Q8NCX0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	164
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4495 predictions. Top by Δscore:

Variant	Effect	Δscore
2:196639778:GGT:G	donor_loss	1.0000
2:196658790:A:AG	acceptor_gain	1.0000
2:196658791:G:GA	acceptor_gain	1.0000
2:196658791:GA:G	acceptor_gain	1.0000
2:196658791:GAA:G	acceptor_gain	1.0000
2:196658791:GAAGA:G	acceptor_gain	1.0000
2:196658857:AGAGG:A	donor_loss	1.0000
2:196658858:GAG:G	donor_gain	1.0000
2:196658859:AGGT:A	donor_loss	1.0000
2:196658862:T:G	donor_loss	1.0000
2:196666842:GATC:G	donor_gain	1.0000
2:196666845:C:CG	donor_gain	1.0000
2:196666845:C:G	donor_gain	1.0000
2:196672438:G:GG	donor_gain	1.0000
2:196676134:A:AG	acceptor_gain	1.0000
2:196676135:A:G	acceptor_gain	1.0000
2:196676136:C:G	acceptor_gain	1.0000
2:196676137:A:AG	acceptor_gain	1.0000
2:196676138:C:G	acceptor_gain	1.0000
2:196676139:TCAG:T	acceptor_loss	1.0000
2:196676140:CA:C	acceptor_loss	1.0000
2:196676141:A:AG	acceptor_gain	1.0000
2:196676142:G:GG	acceptor_gain	1.0000
2:196676142:G:GT	acceptor_loss	1.0000
2:196676142:GGT:G	acceptor_gain	1.0000
2:196676142:GGTA:G	acceptor_gain	1.0000
2:196676263:CATCT:C	donor_gain	1.0000
2:196676264:ATCT:A	donor_gain	1.0000
2:196676265:TCT:T	donor_gain	1.0000
2:196676265:TCTG:T	donor_loss	1.0000

AlphaMissense

7360 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:196719561:T:C	L687S	0.991
2:196719527:G:C	A676P	0.989
2:196719573:T:C	L691P	0.985
2:196719603:T:C	L701P	0.985
2:196719581:C:G	H694D	0.984
2:196719578:T:C	S693P	0.982
2:196719624:T:C	L708P	0.982
2:196721586:T:C	L775P	0.982
2:196719654:T:C	L718P	0.978
2:196721574:T:C	L771P	0.977
2:196721598:T:C	L779P	0.974
2:196719583:C:A	H694Q	0.973
2:196719583:C:G	H694Q	0.973
2:196729997:T:C	L954P	0.973
2:196721616:T:C	L785P	0.972
2:196729257:T:C	L874P	0.972
2:196720604:T:C	L732P	0.971
2:196719582:A:C	H694P	0.970
2:196719591:T:C	M697T	0.967
2:196719561:T:G	L687W	0.966
2:196721594:G:C	A778P	0.965
2:196719575:G:C	A692P	0.964
2:196719570:T:A	V690E	0.963
2:196729214:G:C	A860P	0.963
2:196721576:G:C	A772P	0.960
2:196719564:A:T	E688V	0.959
2:196719599:G:C	A700P	0.959
2:196732066:T:C	F1035L	0.958
2:196732068:T:A	F1035L	0.958
2:196732068:T:G	F1035L	0.958

dbSNP variants (sampled 300 via entrez): RS1000020127 (2:196693615 C>T), RS1000057212 (2:196648633 T>C), RS1000082844 (2:196669148 A>G), RS1000119123 (2:196664430 A>G), RS1000148976 (2:196688360 A>G), RS1000264319 (2:196694549 C>G), RS1000297890 (2:196706925 G>A), RS1000353666 (2:196637820 G>A,C), RS1000396465 (2:196706681 A>G), RS1000427859 (2:196711665 C>A), RS1000474228 (2:196718783 A>G), RS1000500210 (2:196668025 C>A,T), RS1000501720 (2:196675642 A>G), RS1000517953 (2:196687337 T>C), RS1000533076 (2:196648347 T>G)

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

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	3
Arsenic	increases methylation, decreases expression, increases abundance	2
Silicon Dioxide	increases expression, decreases expression	2
Valproic Acid	affects expression, decreases expression, increases methylation	2
Cyclosporine	decreases expression	2
Cadmium Chloride	decreases expression	2
dicrotophos	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
titanium dioxide	decreases expression	1
sodium arsenite	decreases expression, increases abundance	1
perfluorooctanoic acid	decreases expression	1
jinfukang	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Vorinostat	increases expression	1
Benzo(a)pyrene	increases methylation	1
Hydrogen Peroxide	affects expression	1
Latex	increases expression	1
Methyl Methanesulfonate	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Gold Compounds	decreases expression	1
Okadaic Acid	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D9B7	Ubigene HEK293 CCDC150 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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