CCDC71L

Summary

CCDC71L (coiled-coil domain containing 71 like, HGNC:26685) is a protein-coding gene on chromosome 7q22.3, encoding Coiled-coil domain-containing protein 71L (Q8N9Z2).

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_175884

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26685
Approved symbol	CCDC71L
Name	coiled-coil domain containing 71 like
Location	7q22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36031
Ensembl gene	ENSG00000253276
Ensembl biotype	protein_coding
Entrez	168455

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000523505

RefSeq mRNA: 1 — MANE Select: NM_175884 NM_175884

CCDS: CCDS55151

Canonical transcript exons

ENST00000523505 — 1 exons

Exon	Start	End
ENSE00002092942	106654360	106661158

Expression profiles

Bgee: expression breadth ubiquitous, 237 present calls, max score 95.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8700 / max 198.5671, expressed in 1779 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85577	7.4154	1638
85579	2.9462	1088
85578	1.9691	1267
85576	0.2929	123
85575	0.2465	105

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pericardium	UBERON:0002407	95.24	gold quality
left uterine tube	UBERON:0001303	92.91	gold quality
visceral pleura	UBERON:0002401	91.26	gold quality
lower lobe of lung	UBERON:0008949	89.80	gold quality
epithelial cell of pancreas	CL:0000083	89.57	silver quality
parietal pleura	UBERON:0002400	89.32	gold quality
caput epididymis	UBERON:0004358	88.20	gold quality
ileal mucosa	UBERON:0000331	87.60	gold quality
peritoneum	UBERON:0002358	87.44	gold quality
omental fat pad	UBERON:0010414	87.44	gold quality
mucosa of stomach	UBERON:0001199	87.34	gold quality
adipose tissue of abdominal region	UBERON:0007808	87.31	gold quality
stromal cell of endometrium	CL:0002255	86.86	gold quality
thymus	UBERON:0002370	86.67	silver quality
superficial temporal artery	UBERON:0001614	86.45	gold quality
germinal epithelium of ovary	UBERON:0001304	86.30	gold quality
cardiac muscle of right atrium	UBERON:0003379	86.24	silver quality
adipose tissue	UBERON:0001013	85.94	gold quality
cortical plate	UBERON:0005343	85.88	gold quality
cauda epididymis	UBERON:0004360	85.83	gold quality
vermiform appendix	UBERON:0001154	85.55	gold quality
corpus epididymis	UBERON:0004359	85.55	gold quality
right lobe of liver	UBERON:0001114	85.35	gold quality
thoracic mammary gland	UBERON:0005200	85.14	gold quality
mammary gland	UBERON:0001911	85.00	gold quality
parotid gland	UBERON:0001831	84.79	gold quality
blood	UBERON:0000178	84.47	gold quality
endometrium	UBERON:0001295	84.36	gold quality
decidua	UBERON:0002450	83.88	gold quality
left coronary artery	UBERON:0001626	83.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.86

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

221 targeting CCDC71L, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc71l	ENSMUSG00000090946
rattus_norvegicus	Ccdc71l	ENSRNOG00000065519

Paralogs (1): CCDC71 (ENSG00000177352)

Protein

Protein identifiers

Coiled-coil domain-containing protein 71L — Q8N9Z2 (reviewed: Q8N9Z2)

All UniProt accessions (1): Q8N9Z2

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N9Z2-1	1	yes
Q8N9Z2-2	2

RefSeq proteins (1): NP_787080* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026695	Ccdc71/71L	Family

Pfam: PF15374

UniProt features (11 total): modified residue 4, compositionally biased region 3, region of interest 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9Z2-F1	60.34	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 52, 89, 185, 198

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 185 (showing top): RNGTGGGC_UNKNOWN, YY1_Q6, GTGCCTT_MIR506, FOSTER_TOLERANT_MACROPHAGE_DN, FREAC3_01, ZIC1_01, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, AGCTCCT_MIR28, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_8D_UP, WGTTNNNNNAAA_UNKNOWN, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, WANG_SMARCE1_TARGETS_UP, AAGWWRNYGGC_UNKNOWN, CHICAS_RB1_TARGETS_SENESCENT

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

294 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC71L	ZNF280A	P59817	446
CCDC71L	MTMR8	Q96EF0	423
CCDC71L	GCSAML	Q5JQS6	396
CCDC71L	ZNF280B	Q86YH2	393
CCDC71L	ZNF71	Q9NQZ8	383
CCDC71L	DDX3Y	O15523	369
CCDC71L	SLC17A4	Q9Y2C5	368
CCDC71L	CLVS1	Q8IUQ0	368
CCDC71L	KIAA0232	Q92628	357
CCDC71L	FN3K	Q9H479	349
CCDC71L	LONRF3	Q496Y0	338
CCDC71L	EVA1B	Q9NVM1	323
CCDC71L	TTC39A	Q5SRH9	323
CCDC71L	EEPD1	Q7L9B9	322
CCDC71L	SHISA6	Q6ZSJ9	317

IntAct

19 interactions, top by confidence:

A	B	Type	Score
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
CBX3	E2F6	psi-mi:“MI:0914”(association)	0.640
NHLH2	AP3B1	psi-mi:“MI:0914”(association)	0.530
CBX1	ZNF292	psi-mi:“MI:0914”(association)	0.530
Naa11		psi-mi:“MI:0914”(association)	0.350
Cbx1		psi-mi:“MI:0914”(association)	0.350
Cdca8	NAP1L1	psi-mi:“MI:0914”(association)	0.350
Srp72		psi-mi:“MI:0914”(association)	0.350
Kif22	SARS1	psi-mi:“MI:0914”(association)	0.350
CBX3	ZNF324	psi-mi:“MI:0914”(association)	0.350
CHCHD2	ZNF593	psi-mi:“MI:0914”(association)	0.350
SLC15A3	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CBX3	MYL12B	psi-mi:“MI:0914”(association)	0.350
CBX5	ZNF292	psi-mi:“MI:0914”(association)	0.350
H2BC10	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
FASTKD2	MED19	psi-mi:“MI:2364”(proximity)	0.270
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (41): CCDC71L (Proximity Label-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Proximity Label-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS), CCDC71L (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUV1, A0A1B0GVM6, A0A3B3IS91, A0A455ZAR2, A0A6I8MX38, A0A6I8PU40, A5CVC4, C0HLZ6, D3DTV9, I3L0S3, L7N648, O70738, O83165, O90299, P03289, P11300, P12064, P16807, P16814, P16838, P25133, P28964, P29164, P69616, P69617, P89476, Q04221, Q04612, Q2J4A0, Q5JLA7, Q5R4B0, Q64364, Q6IPW1, Q6ZSA8, Q81870, Q86625, Q8N1X5, Q8N726, Q8N7S6, Q8N9T2

Diamond homologs: Q2HJ91, Q4V7C4, Q8IV32, Q8N9Z2, Q8VEG0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

82 predictions. Top by Δscore:

Variant	Effect	Δscore
7:106660607:T:TA	donor_gain	0.9100
7:106657427:A:C	acceptor_gain	0.6800
7:106660461:T:TA	donor_gain	0.6500
7:106657426:C:CT	acceptor_gain	0.6400
7:106659226:TTA:T	donor_gain	0.6200
7:106660577:A:T	donor_gain	0.5800
7:106657429:A:C	acceptor_gain	0.5500
7:106660608:C:A	donor_gain	0.4800
7:106660920:CG:C	donor_gain	0.4800
7:106660217:AGCCT:A	donor_loss	0.4500
7:106660218:GCCTC:G	donor_loss	0.4500
7:106660219:C:CA	donor_gain	0.4500
7:106660219:CCTCA:C	donor_loss	0.4500
7:106660220:CTCAC:C	donor_loss	0.4500
7:106660221:T:TA	donor_loss	0.4500
7:106660222:CA:C	donor_loss	0.4500
7:106660223:ACCA:A	donor_loss	0.4500
7:106660224:C:T	donor_loss	0.4500
7:106660464:T:TA	donor_gain	0.4500
7:106660885:A:AC	donor_gain	0.4400
7:106660886:C:CC	donor_gain	0.4400
7:106660216:GAGCC:G	donor_loss	0.4300
7:106660225:C:G	donor_loss	0.4300
7:106660421:T:A	donor_gain	0.4300
7:106660571:G:C	donor_gain	0.3700
7:106660105:ACTC:A	acceptor_gain	0.3500
7:106660222:C:T	donor_gain	0.3500
7:106658818:G:A	acceptor_gain	0.3400
7:106660217:AGC:A	donor_gain	0.3400
7:106660226:A:T	donor_gain	0.3400

AlphaMissense

1491 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:106660633:G:C	F88L	0.999
7:106660633:G:T	F88L	0.999
7:106660635:A:G	F88L	0.999
7:106660657:G:C	F80L	0.998
7:106660657:G:T	F80L	0.998
7:106660659:A:G	F80L	0.998
7:106660622:A:G	I92T	0.997
7:106660687:G:C	F70L	0.997
7:106660687:G:T	F70L	0.997
7:106660689:A:G	F70L	0.997
7:106660612:G:C	S95R	0.996
7:106660612:G:T	S95R	0.996
7:106660614:T:G	S95R	0.996
7:106660622:A:T	I92N	0.996
7:106660634:A:G	F88S	0.996
7:106660688:A:G	F70S	0.996
7:106660613:C:A	S95I	0.995
7:106660658:A:G	F80S	0.995
7:106660688:A:C	F70C	0.995
7:106660596:A:G	Y101H	0.994
7:106660622:A:C	I92S	0.994
7:106660718:A:G	F60S	0.994
7:106660604:A:T	V98D	0.993
7:106660619:A:G	L93P	0.993
7:106660628:G:T	P90Q	0.993
7:106660642:C:A	K85N	0.993
7:106660642:C:G	K85N	0.993
7:106660655:A:T	L81H	0.993
7:106660663:C:A	W78C	0.993
7:106660663:C:G	W78C	0.993

dbSNP variants (sampled 300 via entrez): RS1000667404 (7:106657230 T>C), RS1000674102 (7:106656898 A>C), RS1000879162 (7:106660411 C>A,G,T), RS1001514776 (7:106656506 T>A), RS1001563454 (7:106662906 T>G), RS1001600125 (7:106662997 C>T), RS1001900453 (7:106661360 G>A,T), RS1002118304 (7:106656431 A>G), RS1002174958 (7:106656752 A>G), RS1002187887 (7:106657802 C>T), RS1002787867 (7:106659118 C>A), RS1003274177 (7:106661379 A>G), RS1003584202 (7:106654890 T>C), RS1004731051 (7:106653911 T>C), RS1005142644 (7:106660061 C>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST001335_16	Mean platelet volume	7.000000e-57
GCST001337_21	Platelet count	6.000000e-25
GCST002184_6	Mean platelet volume	5.000000e-22
GCST005054_3	Platelet count	3.000000e-10
GCST005991_91	Platelet count	2.000000e-11
GCST006009_6	Pulse pressure	1.000000e-08
GCST006168_21	Pulse pressure x alcohol consumption interaction (2df test)	1.000000e-99
GCST006168_47	Pulse pressure x alcohol consumption interaction (2df test)	2.000000e-97
GCST006170_27	Systolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test)	1.000000e-14
GCST006171_10	Pulse pressure x alcohol consumption (light vs heavy) interaction (2df test)	5.000000e-32
GCST006171_2	Pulse pressure x alcohol consumption (light vs heavy) interaction (2df test)	4.000000e-33
GCST006434_109	Systolic blood pressure x alcohol consumption interaction (2df test)	1.000000e-24
GCST006434_50	Systolic blood pressure x alcohol consumption interaction (2df test)	6.000000e-35
GCST007095_132	Systolic blood pressure	2.000000e-10
GCST007095_133	Systolic blood pressure	2.000000e-08
GCST007096_78	Pulse pressure	4.000000e-100
GCST007097_122	Pulse pressure	9.000000e-30
GCST007097_123	Pulse pressure	1.000000e-34
GCST007099_225	Systolic blood pressure	3.000000e-36
GCST007705_75	Pulse pressure	2.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0005763	pulse pressure measurement
EFO:0004329	alcohol drinking
EFO:0006335	systolic blood pressure

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression, affects expression	4
Particulate Matter	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
lead acetate	increases expression	1
arsenite	decreases methylation	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, decreases expression	1
abrine	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases reaction, increases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methotrexate	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	increases expression	1
Progesterone	decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery