CCDC70

Summary

CCDC70 (coiled-coil domain containing 70, HGNC:25303) is a protein-coding gene on chromosome 13q14.3, encoding Coiled-coil domain-containing protein 70 (Q6NSX1).

Located in plasma membrane.

Source: NCBI Gene 83446 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_031290

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25303
Approved symbol	CCDC70
Name	coiled-coil domain containing 70
Location	13q14.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434K1172, FLJ25853
Ensembl gene	ENSG00000123171
Ensembl biotype	protein_coding
Entrez	83446

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000242819

RefSeq mRNA: 2 — MANE Select: NM_031290 NM_001346075, NM_031290

CCDS: CCDS9431

Canonical transcript exons

ENST00000242819 — 2 exons

Exon	Start	End
ENSE00000836936	51865332	51866232
ENSE00001092683	51861969	51862229

Expression profiles

Bgee: expression breadth broad, 39 present calls, max score 95.78.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0629 / max 65.4073, expressed in 6 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
207038	0.0186	3
135214	0.0153	4
207037	0.0151	4
135213	0.0071	3
135215	0.0068	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	95.78	gold quality
right testis	UBERON:0004534	95.69	gold quality
testis	UBERON:0000473	92.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.39	gold quality
sperm	CL:0000019	91.85	gold quality
male germ cell	CL:0000015	90.78	gold quality
adult organism	UBERON:0007023	78.18	gold quality
pancreatic ductal cell	CL:0002079	64.84	silver quality
gingival epithelium	UBERON:0001949	59.67	gold quality
gingiva	UBERON:0001828	56.47	gold quality
tibialis anterior	UBERON:0001385	56.04	silver quality
germinal epithelium of ovary	UBERON:0001304	55.39	gold quality
cerebellar vermis	UBERON:0004720	54.90	gold quality
deltoid	UBERON:0001476	54.48	gold quality
triceps brachii	UBERON:0001509	52.65	gold quality
epithelial cell of pancreas	CL:0000083	52.03	gold quality
hair follicle	UBERON:0002073	51.64	gold quality
quadriceps femoris	UBERON:0001377	50.69	gold quality
vastus lateralis	UBERON:0001379	49.54	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.50	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
thymus	UBERON:0002370	48.49	gold quality
cervix epithelium	UBERON:0004801	48.35	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

5 targeting CCDC70, 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-574-5P	100.00	66.01	989
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-4786-5P	97.45	67.89	924
HSA-MIR-1915-5P	95.25	65.78	571

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc70	ENSMUSG00000017049
rattus_norvegicus	Ccdc70	ENSRNOG00000013740

Paralogs (3): CBY1 (ENSG00000100211), CBY2 (ENSG00000174015), CBY3 (ENSG00000204659)

Protein

Protein identifiers

Coiled-coil domain-containing protein 70 — Q6NSX1 (reviewed: Q6NSX1)

All UniProt accessions (1): Q6NSX1

RefSeq proteins (2): NP_001333004, NP_112580* (*=MANE)

Domains & families (InterPro)

UniProt features (5 total): sequence variant 2, chain 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NSX1-F1	83.60	0.70

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 28 (showing top): GNF2_CCNA1, chr13q14, NOTCH_DN.V1_DN, GSE14415_INDUCED_VS_NATURAL_TREG_UP, ZIM3_TARGET_GENES, MIR574_5P, GSE13229_IMM_VS_INTMATURE_NKCELL_UP, GSE13306_TREG_RA_VS_TCONV_RA_UP, GSE13306_RA_VS_UNTREATED_TREG_UP, GSE9946_MATURE_STIMULATORY_VS_LISTERIA_INF_MATURE_DC_UP, GSE20366_TREG_VS_NAIVE_CD4_TCELL_DN, GSE24142_EARLY_THYMIC_PROGENITOR_VS_DN2_THYMOCYTE_FETAL_DN, GSE11367_CTRL_VS_IL17_TREATED_SMOOTH_MUSCLE_CELL_UP, GSE7459_UNTREATED_VS_IL6_TREATED_ACT_CD4_TCELL_UP, GSE13173_UNTREATED_VS_IL12_TREATED_ACT_CD8_TCELL_DN

GO Biological Process (0):

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

GO Cellular Component (1): plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

300 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC70	CCDC74B	Q96LY2	569
CCDC70	SAMD4A	Q9UPU9	569
CCDC70	CFAP184	Q2M329	554
CCDC70	CFAP20DC	Q6ZVT6	537
CCDC70	CCDC125	Q86Z20	537
CCDC70	ALG11	Q2TAA5	528
CCDC70	RASA4	O43374	524
CCDC70	PRICKLE2	Q7Z3G6	513
CCDC70	XKR5	Q6UX68	507
CCDC70	CCDC92	Q53HC0	506
CCDC70	TMEM168	Q9H0V1	495
CCDC70	CFAP263	Q9H0I3	472
CCDC70	PLP1	P04400	467
CCDC70	ARMCX2	Q7L311	457
CCDC70	MRPL57	Q9BQC6	457

IntAct

48 interactions, top by confidence:

A	B	Type	Score
CCDC70	FATE1	psi-mi:“MI:0915”(physical association)	0.780
FATE1	CCDC70	psi-mi:“MI:0915”(physical association)	0.780
CCDC70	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
CCDC70	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	CCDC70	psi-mi:“MI:0915”(physical association)	0.560
FAM9B	CCDC70	psi-mi:“MI:0915”(physical association)	0.560
MAP7	CCDC70	psi-mi:“MI:0915”(physical association)	0.560
TBC1D10B	CCDC70	psi-mi:“MI:0915”(physical association)	0.560
BMP10	CCDC70	psi-mi:“MI:0915”(physical association)	0.560
CCDC70	TCP10L	psi-mi:“MI:0915”(physical association)	0.560
CCDC70	PRPF31	psi-mi:“MI:0915”(physical association)	0.560
CCDC70	USE1	psi-mi:“MI:0915”(physical association)	0.560
TNF	CCDC70	psi-mi:“MI:0915”(physical association)	0.560
TMEM11	CCDC70	psi-mi:“MI:0915”(physical association)	0.560
CCDC70	AGTRAP	psi-mi:“MI:0915”(physical association)	0.560
CXCL16	CCDC70	psi-mi:“MI:0915”(physical association)	0.560
CCDC70	PRPF8	psi-mi:“MI:0915”(physical association)	0.400
ECE1	CCDC70	psi-mi:“MI:0915”(physical association)	0.370
CCDC70	HSPB1	psi-mi:“MI:0915”(physical association)	0.370
CCDC70	ZC3H18	psi-mi:“MI:0914”(association)	0.350
CCDC70	FATE1	psi-mi:“MI:0915”(physical association)	0.000
BMP10	CCDC70	psi-mi:“MI:0915”(physical association)	0.000
CCDC70	TCP10L	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (19): CCDC70 (Two-hybrid), FATE1 (Two-hybrid), FAM9B (Two-hybrid), CCDC70 (Two-hybrid), CCDC70 (Two-hybrid), CCDC70 (Two-hybrid), MAP7 (Two-hybrid), FATE1 (Two-hybrid), CXCL16 (Two-hybrid), BMP10 (Two-hybrid), TBC1D10B (Two-hybrid), AGTRAP (Two-hybrid), TMEM11 (Two-hybrid), TNF (Two-hybrid), TCP10L (Two-hybrid)

ESM2 similar proteins: A0A0J9YWL9, A0A0J9YY54, A0A1B0GV03, A6NEF3, A6NEM1, A6NI86, A8MZA4, B4DH59, D3YVF0, F6QRE9, H0YKK7, H0YM25, P0C6Y7, P0C7A2, P0DX00, P0DX01, P0DX02, P14590, P21263, P22793, P24587, P24710, P48997, P48998, Q07283, Q0II65, Q0P6D6, Q13342, Q3BBV2, Q4R9C9, Q5W0A0, Q6AXX0, Q6NSX1, Q6P5H2, Q6P902, Q86T75, Q8CHD8, Q8N2N9, Q8N660, Q8N7Z2

Diamond homologs: Q0II65, Q4R9C9, Q6NSX1, Q9D9B0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

101 predictions. Top by Δscore:

Variant	Effect	Δscore
13:51862227:GCA:G	donor_gain	1.0000
13:51865321:T:A	acceptor_gain	1.0000
13:51865327:CACA:C	acceptor_loss	1.0000
13:51865328:ACAG:A	acceptor_gain	1.0000
13:51865329:CA:C	acceptor_loss	1.0000
13:51865330:A:AG	acceptor_gain	1.0000
13:51865330:A:G	acceptor_loss	1.0000
13:51865330:AG:A	acceptor_gain	1.0000
13:51865330:AGG:A	acceptor_gain	1.0000
13:51865331:G:GG	acceptor_gain	1.0000
13:51865331:GG:G	acceptor_gain	1.0000
13:51865331:GGG:G	acceptor_gain	1.0000
13:51865331:GGGT:G	acceptor_gain	1.0000
13:51865331:GGGTC:G	acceptor_gain	1.0000
13:51862223:C:G	donor_gain	0.9900
13:51862228:CA:C	donor_gain	0.9900
13:51862230:G:GG	donor_gain	0.9900
13:51862225:AAGCA:A	donor_gain	0.9800
13:51862226:AGCA:A	donor_gain	0.9800
13:51862227:GCAG:G	donor_gain	0.9800
13:51862229:AGT:A	donor_loss	0.9800
13:51862231:TA:T	donor_loss	0.9800
13:51862232:AA:A	donor_loss	0.9800
13:51862233:AGT:A	donor_loss	0.9800
13:51865318:T:A	acceptor_gain	0.9800
13:51865328:ACAGG:A	acceptor_gain	0.9800
13:51862234:G:GG	donor_gain	0.9700
13:51865328:A:AG	acceptor_gain	0.9600
13:51865329:C:G	acceptor_gain	0.9600
13:51862216:G:T	donor_gain	0.9500

AlphaMissense

1575 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:51865760:T:C	F128L	0.865
13:51865762:C:A	F128L	0.865
13:51865762:C:G	F128L	0.865
13:51865781:T:C	F135L	0.844
13:51865783:C:A	F135L	0.844
13:51865783:C:G	F135L	0.844
13:51865739:T:C	F121L	0.834
13:51865741:C:A	F121L	0.834
13:51865741:C:G	F121L	0.834
13:51865529:T:C	F51L	0.830
13:51865531:T:A	F51L	0.830
13:51865531:T:G	F51L	0.830
13:51865592:T:C	F72L	0.819
13:51865594:C:A	F72L	0.819
13:51865594:C:G	F72L	0.819
13:51865718:T:C	F114L	0.810
13:51865720:C:A	F114L	0.810
13:51865720:C:G	F114L	0.810
13:51865571:T:C	F65L	0.791
13:51865573:C:A	F65L	0.791
13:51865573:C:G	F65L	0.791
13:51865676:T:C	F100L	0.784
13:51865678:C:A	F100L	0.784
13:51865678:C:G	F100L	0.784
13:51865613:T:C	F79L	0.770
13:51865615:C:A	F79L	0.770
13:51865615:C:G	F79L	0.770
13:51865697:T:C	F107L	0.753
13:51865699:C:A	F107L	0.753
13:51865699:C:G	F107L	0.753

dbSNP variants (sampled 300 via entrez): RS1000003540 (13:51863693 ACACACACACACACAC>A), RS1000960919 (13:51864883 C>T), RS1001013140 (13:51865159 A>G), RS1001360107 (13:51863878 G>A), RS1002069461 (13:51860671 A>G), RS1002140431 (13:51862207 C>A,G), RS1003233574 (13:51866465 G>C), RS1003289085 (13:51860839 G>A), RS1003386508 (13:51861037 C>A,T), RS1003592272 (13:51866343 G>T), RS1004126130 (13:51861115 T>G), RS1004494512 (13:51865652 C>T), RS1004799952 (13:51861828 C>T), RS1005092357 (13:51866712 G>A), RS1005530547 (13:51862699 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation	3
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
theaflavin-3,3’-digallate	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Ethanol	decreases expression	1
Methapyrilene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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