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CD52

gene
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Also known as HE5EDDM5

Summary

CD52 (CD52 molecule, HGNC:1804) is a protein-coding gene on chromosome 1p36.11, encoding CAMPATH-1 antigen (P31358). May play a role in carrying and orienting carbohydrate, as well as having a more specific role.

Involved in positive regulation of cytosolic calcium ion concentration. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in sperm midpiece.

Source: NCBI Gene 1043 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 16 total
  • GTEx eGene: eQTL in 29 tissues, sQTL in 2 (q < 0.05)
  • Drug target: yes — 2 curated mechanism-of-action drugs
  • Approved drugs (ChEMBL mechanism of action): 1 — Alemtuzumab
  • Constraint (gnomAD): pLI 0.12 (intermediate), LOEUF 1.79 (unconstrained)
  • MANE Select transcript: NM_001803
  • Interaction hub: 1,856 STRING partners (top 9% of genes corpus-wide)

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:1804
Approved symbolCD52
NameCD52 molecule
Location1p36.11
Locus typegene with protein product
StatusApproved
AliasesHE5, EDDM5
Ensembl geneENSG00000169442
Ensembl biotypeprotein_coding
OMIM114280
Entrez1043

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000374213

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 3: 1

ENST00000374213, ENST00000470468, ENST00000492808, ENST00001100343, ENST00001100344, ENST00001100345, ENST00001145791

RefSeq mRNA: 1 — MANE Select: NM_001803 NM_001803

CCDS: CCDS30647

Canonical transcript exons

ENST00000374213 — 2 exons

ExonStartEnd
ENSE000012317142632017126320523
ENSE000018781022631795826318071

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 100.00.

FANTOM5 (CAGE): breadth broad, TPM avg 203.0901 / max 13755.5005, expressed in 747 samples.

Highest expression (Bgee): corpus epididymis, cauda epididymis, granulocyte, leukocyte, monocyte.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CD52 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 29 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 31 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Whole Bloodeqtl1.3e-51+0.391:26305436:T:C
Heart Left Ventricleeqtl2.5e-39-0.851:26312009:C:A
Lungeqtl3.7e-24+0.351:26296209:C:T
Nerve Tibialeqtl4.6e-22-0.521:26294610:G:A
Muscle Skeletaleqtl3.1e-15+0.401:26296209:C:T
Esophagus Musculariseqtl1.7e-13-0.361:26251494:G:A
Brain Anterior cingulate cortex BA24eqtl4.4e-10-0.661:26242435:G:A
Adipose Visceral Omentumeqtl9.4e-10+0.281:26300121:C:T
Brain Frontal Cortex BA9eqtl1.9e-09-0.551:26286760:T:C
Skin Not Sun Exposed Suprapubiceqtl2.4e-09-0.271:26263941:G:A
Esophagus Gastroesophageal Junctioneqtl2.7e-08+0.301:26305436:T:C
Skin Sun Exposed Lower legeqtl3.0e-08+0.241:26163267:G:T
Breast Mammary Tissueeqtl1.1e-07-0.321:26295313:G:A
Adipose Subcutaneouseqtl1.2e-07-0.201:26275079:A:G
Uteruseqtl1.5e-07-0.711:26275079:A:G
Pancreaseqtl1.1e-06+0.331:26305436:T:C
Brain Cortexeqtl1.1e-06-0.481:26275079:A:G
Heart Atrial Appendageeqtl1.2e-06-0.351:26263691:G:A
Brain Amygdalaeqtl2.0e-05-0.551:26251494:G:A
Artery Tibialeqtl2.7e-05+0.181:26319479:T:A

FANTOM5 promoters

2 alternative TSS:

Promoter IDTPM avgSamples expressed
1599187.1837727
159815.9064534

Top tissues by expression

showing 100 of 284 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
corpus epididymisUBERON:0004359100.00gold quality
cauda epididymisUBERON:000436099.89gold quality
granulocyteCL:000009499.87gold quality
leukocyteCL:000073899.63gold quality
monocyteCL:000057699.62gold quality
mononuclear cellCL:000084299.62gold quality
spleenUBERON:000210699.52gold quality
thymusUBERON:000237099.20gold quality
right lungUBERON:000216798.98gold quality
lymph nodeUBERON:000002998.80gold quality
vermiform appendixUBERON:000115498.79gold quality
bloodUBERON:000017898.72gold quality
upper lobe of left lungUBERON:000895298.48gold quality
upper lobe of lungUBERON:000894898.21gold quality
gall bladderUBERON:000211097.79gold quality
lower lobe of lungUBERON:000894997.79gold quality
bone marrowUBERON:000237197.66gold quality
superficial temporal arteryUBERON:000161497.62gold quality
rectumUBERON:000105297.35gold quality
bone marrow cellCL:000209296.43gold quality
trabecular bone tissueUBERON:000248396.28gold quality
caecumUBERON:000115396.07gold quality
epithelium of nasopharynxUBERON:000195195.54gold quality
mucosa of transverse colonUBERON:000499195.48gold quality
lungUBERON:000204895.23gold quality
small intestine Peyer’s patchUBERON:000345495.16gold quality
adult organismUBERON:000702394.53gold quality
small intestineUBERON:000210892.64gold quality
periodontal ligamentUBERON:000826691.89gold quality
smooth muscle tissueUBERON:000113591.65gold quality
caput epididymisUBERON:000435891.50gold quality
colonic epitheliumUBERON:000039791.41gold quality
ileal mucosaUBERON:000033191.32gold quality
seminal vesicleUBERON:000099890.29gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047390.21gold quality
visceral pleuraUBERON:000240190.15gold quality
omental fat padUBERON:001041490.08gold quality
peritoneumUBERON:000235890.02gold quality
adipose tissue of abdominal regionUBERON:000780889.74gold quality
tonsilUBERON:000237288.89gold quality
mucosa of urinary bladderUBERON:000125988.70gold quality
right coronary arteryUBERON:000162588.34gold quality
transverse colonUBERON:000115788.03gold quality
subcutaneous adipose tissueUBERON:000219087.58gold quality
adipose tissueUBERON:000101386.74gold quality
intestineUBERON:000016086.51gold quality
type B pancreatic cellCL:000016986.35gold quality
connective tissueUBERON:000238486.28gold quality
jejunal mucosaUBERON:000039986.15gold quality
olfactory segment of nasal mucosaUBERON:000538686.11gold quality
olfactory bulbUBERON:000226485.96gold quality
epithelium of bronchusUBERON:000203185.87gold quality
bronchusUBERON:000218585.81gold quality
apex of heartUBERON:000209885.57gold quality
minor salivary glandUBERON:000183085.45gold quality
duodenumUBERON:000211485.11gold quality
bronchial epithelial cellCL:000232884.90gold quality
large intestineUBERON:000005984.82gold quality
oral cavityUBERON:000016784.72gold quality
right uterine tubeUBERON:000130284.70gold quality
fundus of stomachUBERON:000116084.57gold quality
body of stomachUBERON:000116184.57gold quality
colonUBERON:000115584.41gold quality
esophagus mucosaUBERON:000246984.40gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099184.39gold quality
amniotic fluidUBERON:000017384.26gold quality
upper arm skinUBERON:000426384.14gold quality
right lobe of liverUBERON:000111483.99gold quality
colonic mucosaUBERON:000031783.82gold quality
nasal cavity mucosaUBERON:000182683.78gold quality
skin of abdomenUBERON:000141683.60gold quality
stomachUBERON:000094583.58gold quality
mammary ductUBERON:000176583.55gold quality
deciduaUBERON:000245083.52gold quality
mouth mucosaUBERON:000372983.44gold quality
saliva-secreting glandUBERON:000104483.23gold quality
pylorusUBERON:000116683.18gold quality
mucosa of sigmoid colonUBERON:000499383.15gold quality
descending thoracic aortaUBERON:000234583.12gold quality
pleuraUBERON:000097783.10gold quality
left coronary arteryUBERON:000162682.92gold quality
mucosa of paranasal sinusUBERON:000503082.88gold quality
esophagusUBERON:000104382.86gold quality
cervix epitheliumUBERON:000480182.76gold quality
urinary bladderUBERON:000125582.74gold quality
coronary arteryUBERON:000162182.72gold quality
epithelium of mammary glandUBERON:000324482.62gold quality
nasal cavity epitheliumUBERON:000538482.33gold quality
zone of skinUBERON:000001482.09gold quality
skin of legUBERON:000151181.93gold quality
palpebral conjunctivaUBERON:000181281.71gold quality
right lobe of thyroid glandUBERON:000111981.69gold quality
left uterine tubeUBERON:000130381.57gold quality
tracheaUBERON:000312681.43gold quality
lower esophagus muscularis layerUBERON:003583381.29gold quality
lower esophagusUBERON:001347381.28gold quality
vaginaUBERON:000099680.98gold quality
mammalian vulvaUBERON:000099780.97gold quality
esophagogastric junction muscularis propriaUBERON:003584180.96gold quality
left ventricle myocardiumUBERON:000656680.86silver quality

Single-cell (SCXA)

Detected in 57 experiment(s), a significant marker in 46.

ExperimentMarker?Max mean expression
E-MTAB-9467yes3831.98
E-MTAB-7606yes3765.60
E-HCAD-36yes3653.91
E-HCAD-4yes3429.35
E-MTAB-7407yes3154.53
E-MTAB-6701yes3041.92
E-MTAB-9906yes2997.65
E-GEOD-111727yes2784.70
E-HCAD-15yes2741.45
E-HCAD-8yes2724.25
E-MTAB-8410yes2630.46
E-MTAB-8221yes2559.99
E-CURD-79yes2415.74
E-HCAD-10yes2147.98
E-MTAB-8530yes2137.75

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPM
Epididymistissue34113.9
Tonsiltissue1172.5
Lymph nodetissue1009.2
Thymustissue977.7
Spleentissue517.0
Lungtissue422.4
Appendixtissue280.5
Bone marrowtissue251.5
Urinary bladdertissue126.3
Seminal vesicletissue98.1
Rectumtissue90.7
Gallbladdertissue83.6
Stomach 1tissue81.9
Colontissue64.1
Small intestinetissue55.7
Breasttissue55.6
Livertissue51.2
Smooth muscletissue44.1
Duodenumtissue39.1
Salivary glandtissue35.3
Adipose tissuetissue33.8
Esophagustissue32.9
Skin 1tissue26.3
Cervixtissue24.5
Endometrium 1tissue19.9
Prostatetissue17.9
Fallopian tubetissue17.2
Heart muscletissue16.8
Placentatissue15.8
Thyroid glandtissue13.8
Vaginatissue13.2
Tonguetissue12.8
Kidneytissue11.6
Ovarytissue9.6
Adrenal glandtissue9.6
Frontal cortextissue9.1
Caudate putamentissue9.0
Skeletal muscletissue8.8
Choroid plexustissue7.2
Pancreastissue6.6
Pituitary glandtissue5.9
Postcentral gyrustissue5.3
Parathyroid glandtissue5.1
Testistissue4.4
Spinal cordtissue2.4
Hippocampustissue1.6
Locus coeruleustissue1.4
Nucleus accumbenstissue1.3
Olfactory bulbtissue1.0
Substantia nigratissue0.9
Medulla oblongatatissue0.8
Superior colliculitissue0.7
Ponstissue0.6
Hypothalamustissue0.6
Hippocampal formationtissue0.6
Septumtissue0.6
Cerebral cortextissue0.5
Putamentissue0.5
Midbraintissue0.5
Thalamustissue0.5

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Blood vessel (29.7), Anterior thalamic nucleus, ventral (15.2), Area parastriata, superior (11.1), Claustrum (8.9), Nucleus gracilis (4.3).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NKX2-2, SATB1

miRNA regulators (miRDB)

Targeting CD52 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

7 miRNAs:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6887-3P99.6667.831778
HSA-MIR-186-3P99.5166.241685
HSA-MIR-442699.1766.741949
HSA-MIR-447899.0765.162320
HSA-MIR-214-5P97.3466.50617
HSA-MIR-6859-3P97.2664.69428
HSA-MIR-6798-3P94.5568.78325

Functional genomics

gnomAD constraint: pLI 0.118, LOEUF 1.79, missense Z 0.702 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000374213 — one region, missense o/e 0.82.

Literature-anchored findings (GeneRIF, showing 23)

  • A review on CD52 expression and function (PMID:11257744)
  • Review article on CD52 structure and function. (PMID:11860230)
  • HE5(CD52) mRNA and protein, expressed in epithelial cells of the distal epididymis, were not affected by the obstruction of the vas deferens. (PMID:14662784)
  • The relationship between this differential insertion and differences in glycosylation of rat and human CD52 is discussed. (PMID:16266689)
  • CD52 is widely expressed on human mast cells (MCs) and Waldenstrom’s Macroglobulinemia bone marrow lymphoplasmacytic cells and provide the preclinical rationale for the use of alemtuzumab in the treatment of WM and possibly other MC-related disorders. (PMID:16796779)
  • In this study, we identified the antigen of 4C8 mAb as CD52. CD52 is a costimulatory molecule for induction of CD4-positive T cells. (PMID:16797237)
  • In contrast with CLL, the variable expression of CD52 among other hematologic malignancies suggests that target validation on a case-by-case basis will likely be necessary to guide the rational analysis of CAMPATH therapy. (PMID:17145843)
  • Our data demonstrate differences in the intensity of the CD52 antigen expression between B-lymphocytes and tumor lymphocytes of B-CLL patients, and between B-CLL and SLL tumor cells. CD52 antigen is expressed at low level on CD34(+) cells. (PMID:17428002)
  • The semenogelin-CD52 soluble form is a direct consequence of the liquefaction process in human semen. (PMID:17624925)
  • We first showed the expression of CD52 in human cumulus cells. CD52 has some functional roles around fertilization in females as well as in males. (PMID:18647288)
  • Clonal large granular lymphocytes exhibited decreased CD52 expression post-therapy in patients refractory to treatment. (PMID:19794084)
  • Our bioinformatics findings suggest that CD52 polymorphism may affect the efficiency of GPI anchor formation and thus may indirectly alter the response to anti-CD52 agents like alemtuzumabin renal transplantation. (PMID:20349607)
  • CT60 single-nucleotide polymorphism of CTLA4 is a surrogate marker for donor lymphocyte infusion outcome after allogeneic cell transplantation for acute leukemia (PMID:21552305)
  • carbohydrate moiety of sperm protein interferes with the complement system via binding to C1q (PMID:22386526)
  • A molecular and computational diagnostic approach identifies FOXP3, ICOS, CD52 and CASP1 as the most informative biomarkers in acute graft-versus-host disease. (PMID:22491736)
  • CD52 is a novel prognostic NSC marker and a potential NSC target in a subset of patients with MDS and AML, which may have clinical implications and may explain clinical effects produced by alemtuzumab in these patients. (PMID:24799522)
  • This polyclonal mutational landscape in the PIGA gene was also found in CD52(-) T cells present. (PMID:29427418)
  • soluble CD52 exerts a concerted immunosuppressive effect by first sequestering HMGB1 to nullify its proinflammatory Box B, followed by binding to the inhibitory Siglec-10 receptor, triggering recruitment of SHP1 to the intracellular immunoreceptor tyrosine-based inhibitory motif of Siglec-10 and its interaction with the TCR. (PMID:29997173)
  • Mutations in PIGA cause a CD52-/GPI-anchor-deficient phenotype complicating alemtuzumab treatment in T-cell prolymphocytic leukemia. (PMID:32875608)
  • CD52 Is Elevated on B cells of SLE Patients and Regulates B Cell Function. (PMID:33658999)
  • High expression of CD52 in adipocytes: a potential therapeutic target for obesity with type 2 diabetes. (PMID:33705353)
  • Base-Edited CAR7 T Cells for Relapsed T-Cell Acute Lymphoblastic Leukemia. (PMID:37314354)
  • CD52 mRNA expression predicts prognosis and response to immune checkpoint blockade in melanoma. (PMID:37975535)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusCd52ENSMUSG00000000682
rattus_norvegicusCd52ENSRNOG00000015403

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1346088) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)Records
increased circulating glucose level1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Macaca fascicularisP3276386.9%Diamond
Canis lupus familiarisQ2889655.2%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
ZNF683protein-coding257101
CRYBG2protein-coding55057
LIN28Aprotein-coding79727
SH3BGRL3protein-coding83442
UBXN11protein-coding91544
CEP85protein-coding64793

Protein

Protein identifiers

CAMPATH-1 antigen — P31358 (reviewed: P31358)

Alternative names: CDw52, Cambridge pathology 1 antigen, Epididymal secretory protein E5, Human epididymis-specific protein 5

All UniProt accessions (2): P31358, V9HWN9

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in carrying and orienting carbohydrate, as well as having a more specific role.

Subcellular location. Cell membrane.

RefSeq proteins (1): NP_001794* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR026643CAMPATH-1Family

Pfam: PF15116

UniProt features (9 total): glycosylation site 2, sequence variant 2, signal peptide 1, peptide 1, propeptide 1, lipid moiety-binding region 1, helix 1

Structure

Experimental structures (PDB)

1 structures by resolution:

PDBTitleMethodResolution (Å)
6OBDCrystal structure of anti-GLD52 Fab complex with human GLD52 peptide mimeticX-RAY DIFFRACTION2.2

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P31358-F168.220.00

Antibody-complex structures (SAbDab)

2 antibodies co-crystallized with this protein: 6OBD, GATRALIMAB

Human Protein Atlas

Protein class: CD markers, Predicted membrane proteins, Cancer-related genes, Candidate cancer biomarkers, FDA approved drug targets, Biotech drugs

Protein evidence: Evidence at protein level

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 (1)

TypePositions
Gpi-anchor amidated serine36

Glycosylation sites (2)

TypePositions
N-linked (glcnac…) asparagine27, 40

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

3 pathways:

IDPathwayEvidence
R-HSA-163125Post-translational modification: synthesis of GPI-anchored proteinscurated
R-HSA-392499Metabolism of proteins—
R-HSA-597592Post-translational protein modification—

MSigDB gene sets: 259 (showing top): WALLACE_PROSTATE_CANCER_RACE_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, MODULE_45, GRAHAM_CML_QUIESCENT_VS_NORMAL_QUIESCENT_DN, BOYLAN_MULTIPLE_MYELOMA_D_DN, FINAK_BREAST_CANCER_SDPP_SIGNATURE, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, GOBP_RESPIRATORY_BURST, HAHTOLA_CTCL_PATHOGENESIS, BROWN_MYELOID_CELL_DEVELOPMENT_UP, SANSOM_APC_TARGETS_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, KANG_IMMORTALIZED_BY_TERT_DN, VALK_AML_CLUSTER_15, MODULE_60

GO Biological Process (2): positive regulation of cytosolic calcium ion concentration (GO:0007204), respiratory burst (GO:0045730)

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

GO Cellular Component (5): extracellular region (GO:0005576), plasma membrane (GO:0005886), membrane (GO:0016020), sperm midpiece (GO:0097225), side of membrane (GO:0098552)

Reactome top-level categories

2 top-level categories:

CategoryPathways
Post-translational protein modification1
Metabolism of proteins1

GO top-level categories

8 GO namespaces:

CategoryTerms
cellular anatomical structure4
membrane2
regulation of biological quality1
metabolic process1
binding1
cell periphery1
sperm flagellum1
leaflet of membrane bilayer1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO termNSEvidence
positive regulation of cytosolic calcium ion concentrationBPdirect assay

Protein interactions and networks

STRING

showing 15 of 1,856 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
CD52CD19P15391654
CD52CD22P20273622
CD52CD4P01730621
CD52CD8AP01732592
CD52TNFRSF8P28908572
CD52SIGLEC10Q96LC7572
CD52CD5P06127570
CD52CD38P28907568
CD52CD7P09564567
CD52CD2P06729549
CD52CD33P20138535
CD52CTLA4P16410505
CD52CD37P11049500
CD52CD28P10747493
CD52NCOR2Q9Y618485

IntAct

Human interaction partners of CD52 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

PartnerInteraction typeMIscoreRecords
SIGLEC10direct interaction0.6103

BioGRID (6 interactions; top human partners by supporting records): AQP6 (Two-hybrid), CMTM2 (Two-hybrid), DDX58 (Affinity Capture-RNA), LMNA (Two-hybrid), SLC30A2 (Two-hybrid), TRIM21 (Affinity Capture-Western)

SIGNOR signaling

2 signaling interactions:

AEffectBMechanism
SATB1“up-regulates quantity by expression”CD52“transcriptional regulation”
alemtuzumab“down-regulates activity”CD52binding

Ligand–receptor pairs (CellPhoneDB) (1)

Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.

1 ligand–receptor pairs:

PartnerThis gene’s roleSignaling class
SIGLEC10ligand

Disease & clinical

Genetic variants

Variant evidence for CD52: 16 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance10
Likely benign2
Benign2

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 19 predictions of 84):

Position(s)EffectΔscoreSites
1:26318072–26318073donor_loss0.99005
1:26318772donor_gain0.9900
1:26320169–26320170acceptor_loss0.99006
1:26318919donor_gain0.9400
1:26318923donor_gain0.9100
1:26318652donor_gain0.9000
1:26318721donor_gain0.8900
1:26320168acceptor_gain0.8100
1:26318766donor_gain0.7700
1:26318945donor_gain0.7600

AlphaMissense

47 missense substitutions predicted likely pathogenic (of 404 scored), across 22 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
S1240.9220.988
L1330.8220.850
F430.7740.774
S6130.7550.755
F5830.7460.746
L1430.7280.840
I1930.7010.759
Q1830.6340.662
I5420.7930.821
A5120.7100.783
L820.6700.752
L4720.6590.685
L920.6480.681
A5320.6450.664
M1620.5990.603
N5220.5870.587
V1510.8410.841
V5010.7010.701
L5710.6660.666
I1110.6590.659

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

CancerPrognosticp-value
Breast Invasive Carcinoma (TCGA)favorable0.000416
Skin Cutaneous Melanoma (TCGA)favorable0.000961

Disease associations

OMIM: gene MIM:114280 | disease phenotypes:

GWAS associations

2 associations:

StudyTraitp-value
GCST004609_102Monocyte percentage of white cells7e-16
GCST90002381_418Eosinophil count7e-13

EFO canonical traits (from GWAS)

2 canonical traits:

EFO IDTrait name
EFO:0007989monocyte percentage of leukocytes
EFO:0004842eosinophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1912 (SINGLE PROTEIN)

Drugs by curated mechanism of action (ChEMBL)

Drugs whose curated ChEMBL mechanism of action targets the CD52 protein itself — single-protein targets only (drugs acting on a protein family or complex that merely includes it are excluded). Includes antibodies and oligonucleotides that bioactivity screening does not capture.

2 curated-mechanism drugs:

DrugModalityMax phase
ALEMTUZUMABAntibody4
ALEMTUZUMAB BETAAntibody2

PharmGKB: 1 entry (CPIC guideline: no)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — CD molecules

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Tretinoinaffects cotreatment, increases expression5
Arsenic Trioxidedecreases expression, increases expression, affects cotreatment4
Air Pollutantsincreases expression, decreases expression, affects expression, increases abundance3
perfluorooctanoic aciddecreases expression, increases expression2
Panobinostataffects cotreatment, increases expression2
Fluorouracilaffects expression, affects reaction, decreases expression2
Nickelincreases expression2
Valproic Acidincreases expression, increases methylation2
GSK-J4decreases expression1
methylmercuric chloridedecreases expression1
propionaldehydeincreases expression1
bisphenol Adecreases methylation1
pentanalincreases expression1
entinostatincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinincreases expression, affects cotreatment1
(+)-JQ1 compounddecreases expression1
Decitabineaffects expression1
Vorinostatincreases expression, affects cotreatment1
Benzo(a)pyreneincreases methylation1
Cadmiumdecreases expression, increases abundance1
Cisplatinaffects expression1
Diurondecreases expression1
Hydrogen Peroxideincreases expression1
Ozoneaffects expression, increases abundance1
Silicon Dioxideincreases expression1
Isotretinoinincreases expression1
Cyclosporinedecreases expression1
Aflatoxin B1increases methylation1
Sodium Seleniteincreases expression1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.