CDCP2

gene
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Summary

CDCP2 (CUB domain containing protein 2, HGNC:27297) is a protein-coding gene on chromosome 1p32.3, encoding CUB domain-containing protein 2 (Q5VXM1).

Predicted to be located in membrane.

Source: NCBI Gene 200008 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 94 total
  • MANE Select transcript: NM_001353655

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:27297
Approved symbolCDCP2
NameCUB domain containing protein 2
Location1p32.3
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000157211
Ensembl biotypeprotein_coding
OMIM612320
Entrez200008

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000371330, ENST00000530059

RefSeq mRNA: 2 — MANE Select: NM_001353655 NM_001353655, NM_201546

CCDS: CCDS588, CCDS85977

Canonical transcript exons

ENST00000530059 — 6 exons

ExonStartEnd
ENSE000014549595414109854141433
ENSE000014549605414446654144813
ENSE000037956685413663054136808
ENSE000037958815413975354140106
ENSE000039782685413268754133294
ENSE000039782695415284454153000

Expression profiles

Bgee: expression breadth broad, 19 present calls, max score 45.05.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
granulocyteCL:000009445.05silver quality
bone marrow cellCL:000209241.95gold quality
prefrontal cortexUBERON:000045141.16gold quality
ganglionic eminenceUBERON:000402340.88gold quality
bone marrowUBERON:000237140.53gold quality
sural nerveUBERON:001548840.09gold quality
spleenUBERON:000210639.97gold quality
ventricular zoneUBERON:000305339.81gold quality
lower esophagus mucosaUBERON:003583439.56gold quality
ectocervixUBERON:001224939.31gold quality
urinary bladderUBERON:000125539.20silver quality
colonic epitheliumUBERON:000039737.20gold quality
uterine cervixUBERON:000000236.88silver quality
cortical plateUBERON:000534336.47gold quality
skeletal muscle tissueUBERON:000113436.09gold quality
hindlimb stylopod muscleUBERON:000425235.39gold quality
muscle tissueUBERON:000238535.28gold quality
frontal cortexUBERON:000187035.26silver quality
liverUBERON:000210735.16gold quality
omental fat padUBERON:001041434.66silver quality
myometriumUBERON:000129634.40gold quality
mucosa of transverse colonUBERON:000499134.29gold quality
metanephros cortexUBERON:001053333.75silver quality
primary visual cortexUBERON:000243633.36gold quality
endocervixUBERON:000045833.32gold quality
adipose tissueUBERON:000101333.13silver quality
left adrenal gland cortexUBERON:003582533.06silver quality
superior frontal gyrusUBERON:000266133.03gold quality
mucosa of stomachUBERON:000119932.76gold quality
smooth muscle tissueUBERON:000113532.75gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting CDCP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-518D-5P100.0067.51979
HSA-MIR-518E-5P100.0067.66954
HSA-MIR-518F-5P100.0067.51979
HSA-MIR-519A-5P100.0067.66954
HSA-MIR-519B-5P100.0067.66954
HSA-MIR-519C-5P100.0067.66954
HSA-MIR-520C-5P100.0067.51979
HSA-MIR-522-5P100.0067.66954
HSA-MIR-523-5P100.0067.66954
HSA-MIR-526A-5P100.0067.51979
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-118499.9968.191458
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-3140-3P99.8868.472069
HSA-MIR-129-5P99.8870.263273
HSA-MIR-6885-3P99.7570.363187
HSA-MIR-556-3P99.7468.751203
HSA-MIR-6887-3P99.6667.831778
HSA-MIR-4756-3P99.6266.301319
HSA-MIR-516A-3P99.4667.961378
HSA-MIR-516B-3P99.4667.961378
HSA-MIR-7162-5P99.4668.081368
HSA-MIR-431699.3765.751360
HSA-MIR-127699.3668.181642
HSA-MIR-3160-5P99.2869.071938
HSA-MIR-126499.2566.811317
HSA-MIR-316899.0867.751384
HSA-MIR-4716-5P98.8268.571168
HSA-MIR-5590-5P98.8168.78969

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriocdcp2ENSDARG00000075866
mus_musculusCdcp2ENSMUSG00000047636
rattus_norvegicusCdcp2ENSRNOG00000009221

Paralogs (35): NRXN3 (ENSG00000021645), TLL1 (ENSG00000038295), CP (ENSG00000047457), DCBLD2 (ENSG00000057019), HEPH (ENSG00000089472), TLL2 (ENSG00000095587), NRP1 (ENSG00000099250), PCOLCE (ENSG00000106333), CNTNAP3 (ENSG00000106714), CUBN (ENSG00000107611), CNTNAP1 (ENSG00000108797), NRXN2 (ENSG00000110076), MEP1A (ENSG00000112818), NRP2 (ENSG00000118257), CUZD1 (ENSG00000138161), MFGE8 (ENSG00000140545), MEP1B (ENSG00000141434), PDGFC (ENSG00000145431), CNTNAP4 (ENSG00000152910), CNTNAP3B (ENSG00000154529), CNTNAP5 (ENSG00000155052), PCOLCE2 (ENSG00000163710), EDIL3 (ENSG00000164176), NETO1 (ENSG00000166342), BMP1 (ENSG00000168487), PDGFD (ENSG00000170962), NETO2 (ENSG00000171208), CNTNAP2 (ENSG00000174469), NRXN1 (ENSG00000179915), HEPHL1 (ENSG00000181333), F8 (ENSG00000185010), ASTL (ENSG00000188886), F5 (ENSG00000198734), MFRP (ENSG00000235718), CNTNAP3C (ENSG00000283378)

Protein

Protein identifiers

CUB domain-containing protein 2Q5VXM1 (reviewed: Q5VXM1)

All UniProt accessions (1): Q5VXM1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (2)

UniProt IDNamesCanonical?
Q5VXM1-31yes
Q5VXM1-12

RefSeq proteins (2): NP_001340584, NP_963840 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000859CUB_domDomain
IPR035914Sperma_CUB_dom_sfHomologous_superfamily
IPR055356ZP-NDomain

Pfam: PF00431, PF23344

UniProt features (22 total): disulfide bond 6, glycosylation site 5, domain 3, splice variant 2, topological domain 2, signal peptide 1, chain 1, sequence variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5VXM1-F182.430.43

Functional residue map

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

Disulfide bonds (6): 30–56, 83–106, 145–171, 198–218, 257–283, 314–336

Glycosylation sites (5): 377, 435, 436, 40, 267

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 14 (showing top): TGACCTY_ERR1_Q2, TGGAAA_NFAT_Q4_01, LINDGREN_BLADDER_CANCER_CLUSTER_1_DN, CHEN_METABOLIC_SYNDROM_NETWORK, NABA_ECM_GLYCOPROTEINS, MIR2467_5P, MIR6874_3P, MIR148B_5P, MIR331_3P, NABA_CORE_MATRISOME, NABA_MATRISOME, chr1p32, GSE3720_UNSTIM_VS_LPS_STIM_VD2_GAMMADELTA_TCELL_DN, GSE19941_UNSTIM_VS_LPS_AND_IL10_STIM_IL10_KO_NFKBP50_KO_MACROPHAGE_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure1

Protein interactions and networks

STRING

440 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CDCP2USP24Q9UPU5890
CDCP2HIVEP3Q5T1R4847
CDCP2EIF2B3Q9NR50776
CDCP2ELAVL4P26378763
CDCP2ZNF852Q6ZMS4697
CDCP2CCDC73Q6ZRK6561
CDCP2MROH7Q68CQ1541
CDCP2WDR27A2RRH5508
CDCP2PRDM15P57071486
CDCP2ANKRD65E5RJM6476
CDCP2SCLT1Q96NL6451
CDCP2JPH4Q96JJ6451
CDCP2ZDBF2Q9HCK1451
CDCP2FAM111BQ6SJ93450
CDCP2FOXI3A8MTJ6428

IntAct

2 interactions, top by confidence:

ABTypeScore
CDCP2EDEM1psi-mi:“MI:0914”(association)0.350

BioGRID (3): EDEM1 (Affinity Capture-MS), CDC6 (Affinity Capture-MS), EHD4 (Affinity Capture-MS)

ESM2 similar proteins: A0JNA2, A2RRU4, A6QM06, C0HL12, D3ZTD8, O14514, O54693, O60241, O60242, O75077, O75462, P08138, P97260, Q0GA42, Q13591, Q29RN8, Q3TMX7, Q3UHD1, Q4V7F2, Q4V9Z5, Q53EL9, Q5R7Y0, Q5VXM1, Q62217, Q6GQT6, Q6UXD5, Q6ZRP7, Q7TSK2, Q7TSQ1, Q7TT36, Q80ZF8, Q8BQC3, Q8BQH6, Q8CGM1, Q8IVU1, Q8IWK6, Q91XD7, Q924S4, Q92838, Q96MU8

Diamond homologs: A0A0C5PRQ1, A0FKN6, A0JNA2, A8Q2D1, C6K2K4, C9D7R3, D2KBH9, D5FM34, D5FM37, D5FM38, K7Z9Q9, O16977, O17264, O35276, O35375, O43897, O57382, O57460, O60462, O60494, O70244, P07584, P0DM61, P0DM62, P13497, P28825, P28826, P31579, P31580, P31581, P42674, P55112, P55113, P55114, P55115, P84748, P91828, P98060, P98061, P98068

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance82
Likely benign6
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1210 predictions. Top by Δscore:

VariantEffectΔscore
1:54140104:CTC:Cacceptor_gain1.0000
1:54144583:T:TAdonor_gain1.0000
1:54144584:C:Adonor_gain1.0000
1:54139754:T:TAdonor_gain0.9900
1:54140102:TTCTC:Tacceptor_gain0.9900
1:54140105:TC:Tacceptor_gain0.9900
1:54140106:CC:Cacceptor_gain0.9900
1:54140106:CCTGG:Cacceptor_loss0.9900
1:54140107:C:CCacceptor_gain0.9900
1:54140111:A:Cacceptor_gain0.9900
1:54140118:A:ACacceptor_gain0.9900
1:54140118:A:Cacceptor_gain0.9900
1:54140126:G:Cacceptor_gain0.9900
1:54141092:TCCTA:Tdonor_loss0.9900
1:54141093:CCTA:Cdonor_loss0.9900
1:54141094:CTAC:Cdonor_loss0.9900
1:54141095:TACC:Tdonor_loss0.9900
1:54141096:ACCTG:Adonor_loss0.9900
1:54141097:CCTG:Cdonor_loss0.9900
1:54141431:CAT:Cacceptor_gain0.9900
1:54144496:TGGC:Tdonor_gain0.9900
1:54144572:G:Adonor_gain0.9900
1:54153084:T:TAdonor_gain0.9900
1:54153094:A:ACdonor_gain0.9900
1:54153095:C:CCdonor_gain0.9900
1:54153298:C:Adonor_gain0.9900
1:54153642:T:TAdonor_gain0.9900
1:54140103:TCTC:Tacceptor_gain0.9800
1:54140104:CTCC:Cacceptor_gain0.9800
1:54140105:TCCT:Tacceptor_gain0.9800

AlphaMissense

3516 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:54141118:A:CF248C0.999
1:54141118:A:GF248S0.999
1:54141145:G:AS239F0.999
1:54141259:T:AD201V0.999
1:54141349:C:GC171S0.999
1:54141350:A:TC171S0.999
1:54141387:A:CS158R0.999
1:54141387:A:TS158R0.999
1:54141389:T:GS158R0.999
1:54144486:A:GF136S0.999
1:54144636:T:AD86V0.999
1:54139762:A:CY370D0.998
1:54140022:C:GC283S0.998
1:54140023:A:TC283S0.998
1:54140060:G:CS270R0.998
1:54140060:G:TS270R0.998
1:54140062:T:GS270R0.998
1:54141117:G:CF248L0.998
1:54141117:G:TF248L0.998
1:54141119:A:GF248L0.998
1:54141142:T:AD240V0.998
1:54141260:C:AD201Y0.998
1:54141260:C:GD201H0.998
1:54141301:A:CF187C0.998
1:54141342:C:AW173C0.998
1:54141342:C:GW173C0.998
1:54144485:A:CF136L0.998
1:54144485:A:TF136L0.998
1:54144486:A:CF136C0.998
1:54144487:A:GF136L0.998

dbSNP variants (sampled 300 via entrez): RS1000175520 (1:54138312 A>G), RS1000249456 (1:54144019 G>T), RS1000265132 (1:54134207 C>A,T), RS1000294561 (1:54144267 C>T), RS1000526750 (1:54152153 GGGA>G), RS1000628871 (1:54142891 T>C), RS1000784867 (1:54137327 A>G), RS1000934805 (1:54154457 C>T), RS1001022187 (1:54149163 C>T), RS1001191284 (1:54137656 G>C,T), RS1001264396 (1:54135578 G>A), RS1001297053 (1:54135306 G>A), RS1001325740 (1:54147151 C>A,T), RS1001437442 (1:54147372 C>T), RS1001494229 (1:54148838 C>T)

Disease associations

OMIM: gene MIM:612320 | 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):

StudyTraitp-value
GCST012335_13Hodgkin’s lymphoma2.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

ChemicalActions (top 5)PubMed papers
Resveratrolaffects cotreatment, decreases expression2
Arsenicaffects methylation, increases abundance, increases expression2
ethylbenzeneincreases expression, affects cotreatment, decreases methylation1
alpha phellandreneincreases expression1
bisphenol Aaffects cotreatment, increases methylation1
sodium arseniteincreases abundance, increases expression1
CGP 52608affects binding, increases reaction1
Fulvestrantaffects cotreatment, increases methylation1
Air Pollutantsdecreases expression, increases abundance1
Air Pollutants, Occupationaldecreases methylation, increases expression1
Benzo(a)pyreneincreases methylation1
Copperaffects cotreatment, decreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Tolueneincreases expression, affects cotreatment, decreases methylation1
Xylenesaffects cotreatment, decreases methylation, increases expression1
Particulate Matterdecreases expression, increases abundance1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Hodgkins lymphoma