CD52
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:1804 |
| Approved symbol | CD52 |
| Name | CD52 molecule |
| Location | 1p36.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HE5, EDDM5 |
| Ensembl gene | ENSG00000169442 |
| Ensembl biotype | protein_coding |
| OMIM | 114280 |
| Entrez | 1043 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001231714 | 26320171 | 26320523 |
| ENSE00001878102 | 26317958 | 26318071 |
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:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Whole Blood | eqtl | 1.3e-51 | +0.39 | 1:26305436:T:C |
| Heart Left Ventricle | eqtl | 2.5e-39 | -0.85 | 1:26312009:C:A |
| Lung | eqtl | 3.7e-24 | +0.35 | 1:26296209:C:T |
| Nerve Tibial | eqtl | 4.6e-22 | -0.52 | 1:26294610:G:A |
| Muscle Skeletal | eqtl | 3.1e-15 | +0.40 | 1:26296209:C:T |
| Esophagus Muscularis | eqtl | 1.7e-13 | -0.36 | 1:26251494:G:A |
| Brain Anterior cingulate cortex BA24 | eqtl | 4.4e-10 | -0.66 | 1:26242435:G:A |
| Adipose Visceral Omentum | eqtl | 9.4e-10 | +0.28 | 1:26300121:C:T |
| Brain Frontal Cortex BA9 | eqtl | 1.9e-09 | -0.55 | 1:26286760:T:C |
| Skin Not Sun Exposed Suprapubic | eqtl | 2.4e-09 | -0.27 | 1:26263941:G:A |
| Esophagus Gastroesophageal Junction | eqtl | 2.7e-08 | +0.30 | 1:26305436:T:C |
| Skin Sun Exposed Lower leg | eqtl | 3.0e-08 | +0.24 | 1:26163267:G:T |
| Breast Mammary Tissue | eqtl | 1.1e-07 | -0.32 | 1:26295313:G:A |
| Adipose Subcutaneous | eqtl | 1.2e-07 | -0.20 | 1:26275079:A:G |
| Uterus | eqtl | 1.5e-07 | -0.71 | 1:26275079:A:G |
| Pancreas | eqtl | 1.1e-06 | +0.33 | 1:26305436:T:C |
| Brain Cortex | eqtl | 1.1e-06 | -0.48 | 1:26275079:A:G |
| Heart Atrial Appendage | eqtl | 1.2e-06 | -0.35 | 1:26263691:G:A |
| Brain Amygdala | eqtl | 2.0e-05 | -0.55 | 1:26251494:G:A |
| Artery Tibial | eqtl | 2.7e-05 | +0.18 | 1:26319479:T:A |
FANTOM5 promoters
2 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1599 | 187.1837 | 727 |
| 1598 | 15.9064 | 534 |
Top tissues by expression
showing 100 of 284 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 100.00 | gold quality |
| cauda epididymis | UBERON:0004360 | 99.89 | gold quality |
| granulocyte | CL:0000094 | 99.87 | gold quality |
| leukocyte | CL:0000738 | 99.63 | gold quality |
| monocyte | CL:0000576 | 99.62 | gold quality |
| mononuclear cell | CL:0000842 | 99.62 | gold quality |
| spleen | UBERON:0002106 | 99.52 | gold quality |
| thymus | UBERON:0002370 | 99.20 | gold quality |
| right lung | UBERON:0002167 | 98.98 | gold quality |
| lymph node | UBERON:0000029 | 98.80 | gold quality |
| vermiform appendix | UBERON:0001154 | 98.79 | gold quality |
| blood | UBERON:0000178 | 98.72 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.48 | gold quality |
| upper lobe of lung | UBERON:0008948 | 98.21 | gold quality |
| gall bladder | UBERON:0002110 | 97.79 | gold quality |
| lower lobe of lung | UBERON:0008949 | 97.79 | gold quality |
| bone marrow | UBERON:0002371 | 97.66 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.62 | gold quality |
| rectum | UBERON:0001052 | 97.35 | gold quality |
| bone marrow cell | CL:0002092 | 96.43 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.28 | gold quality |
| caecum | UBERON:0001153 | 96.07 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.54 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.48 | gold quality |
| lung | UBERON:0002048 | 95.23 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.16 | gold quality |
| adult organism | UBERON:0007023 | 94.53 | gold quality |
| small intestine | UBERON:0002108 | 92.64 | gold quality |
| periodontal ligament | UBERON:0008266 | 91.89 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.65 | gold quality |
| caput epididymis | UBERON:0004358 | 91.50 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.41 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.32 | gold quality |
| seminal vesicle | UBERON:0000998 | 90.29 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.21 | gold quality |
| visceral pleura | UBERON:0002401 | 90.15 | gold quality |
| omental fat pad | UBERON:0010414 | 90.08 | gold quality |
| peritoneum | UBERON:0002358 | 90.02 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 89.74 | gold quality |
| tonsil | UBERON:0002372 | 88.89 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 88.70 | gold quality |
| right coronary artery | UBERON:0001625 | 88.34 | gold quality |
| transverse colon | UBERON:0001157 | 88.03 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 87.58 | gold quality |
| adipose tissue | UBERON:0001013 | 86.74 | gold quality |
| intestine | UBERON:0000160 | 86.51 | gold quality |
| type B pancreatic cell | CL:0000169 | 86.35 | gold quality |
| connective tissue | UBERON:0002384 | 86.28 | gold quality |
| jejunal mucosa | UBERON:0000399 | 86.15 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 86.11 | gold quality |
| olfactory bulb | UBERON:0002264 | 85.96 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 85.87 | gold quality |
| bronchus | UBERON:0002185 | 85.81 | gold quality |
| apex of heart | UBERON:0002098 | 85.57 | gold quality |
| minor salivary gland | UBERON:0001830 | 85.45 | gold quality |
| duodenum | UBERON:0002114 | 85.11 | gold quality |
| bronchial epithelial cell | CL:0002328 | 84.90 | gold quality |
| large intestine | UBERON:0000059 | 84.82 | gold quality |
| oral cavity | UBERON:0000167 | 84.72 | gold quality |
| right uterine tube | UBERON:0001302 | 84.70 | gold quality |
| fundus of stomach | UBERON:0001160 | 84.57 | gold quality |
| body of stomach | UBERON:0001161 | 84.57 | gold quality |
| colon | UBERON:0001155 | 84.41 | gold quality |
| esophagus mucosa | UBERON:0002469 | 84.40 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.39 | gold quality |
| amniotic fluid | UBERON:0000173 | 84.26 | gold quality |
| upper arm skin | UBERON:0004263 | 84.14 | gold quality |
| right lobe of liver | UBERON:0001114 | 83.99 | gold quality |
| colonic mucosa | UBERON:0000317 | 83.82 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 83.78 | gold quality |
| skin of abdomen | UBERON:0001416 | 83.60 | gold quality |
| stomach | UBERON:0000945 | 83.58 | gold quality |
| mammary duct | UBERON:0001765 | 83.55 | gold quality |
| decidua | UBERON:0002450 | 83.52 | gold quality |
| mouth mucosa | UBERON:0003729 | 83.44 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 83.23 | gold quality |
| pylorus | UBERON:0001166 | 83.18 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 83.15 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 83.12 | gold quality |
| pleura | UBERON:0000977 | 83.10 | gold quality |
| left coronary artery | UBERON:0001626 | 82.92 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 82.88 | gold quality |
| esophagus | UBERON:0001043 | 82.86 | gold quality |
| cervix epithelium | UBERON:0004801 | 82.76 | gold quality |
| urinary bladder | UBERON:0001255 | 82.74 | gold quality |
| coronary artery | UBERON:0001621 | 82.72 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 82.62 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 82.33 | gold quality |
| zone of skin | UBERON:0000014 | 82.09 | gold quality |
| skin of leg | UBERON:0001511 | 81.93 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 81.71 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 81.69 | gold quality |
| left uterine tube | UBERON:0001303 | 81.57 | gold quality |
| trachea | UBERON:0003126 | 81.43 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 81.29 | gold quality |
| lower esophagus | UBERON:0013473 | 81.28 | gold quality |
| vagina | UBERON:0000996 | 80.98 | gold quality |
| mammalian vulva | UBERON:0000997 | 80.97 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 80.96 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 80.86 | silver quality |
Single-cell (SCXA)
Detected in 57 experiment(s), a significant marker in 46.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9467 | yes | 3831.98 |
| E-MTAB-7606 | yes | 3765.60 |
| E-HCAD-36 | yes | 3653.91 |
| E-HCAD-4 | yes | 3429.35 |
| E-MTAB-7407 | yes | 3154.53 |
| E-MTAB-6701 | yes | 3041.92 |
| E-MTAB-9906 | yes | 2997.65 |
| E-GEOD-111727 | yes | 2784.70 |
| E-HCAD-15 | yes | 2741.45 |
| E-HCAD-8 | yes | 2724.25 |
| E-MTAB-8410 | yes | 2630.46 |
| E-MTAB-8221 | yes | 2559.99 |
| E-CURD-79 | yes | 2415.74 |
| E-HCAD-10 | yes | 2147.98 |
| E-MTAB-8530 | yes | 2137.75 |
HPA expression
RNA tissue specificity: Tissue enriched
showing 60 of 76 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM |
|---|---|---|
| Epididymis | tissue | 34113.9 |
| Tonsil | tissue | 1172.5 |
| Lymph node | tissue | 1009.2 |
| Thymus | tissue | 977.7 |
| Spleen | tissue | 517.0 |
| Lung | tissue | 422.4 |
| Appendix | tissue | 280.5 |
| Bone marrow | tissue | 251.5 |
| Urinary bladder | tissue | 126.3 |
| Seminal vesicle | tissue | 98.1 |
| Rectum | tissue | 90.7 |
| Gallbladder | tissue | 83.6 |
| Stomach 1 | tissue | 81.9 |
| Colon | tissue | 64.1 |
| Small intestine | tissue | 55.7 |
| Breast | tissue | 55.6 |
| Liver | tissue | 51.2 |
| Smooth muscle | tissue | 44.1 |
| Duodenum | tissue | 39.1 |
| Salivary gland | tissue | 35.3 |
| Adipose tissue | tissue | 33.8 |
| Esophagus | tissue | 32.9 |
| Skin 1 | tissue | 26.3 |
| Cervix | tissue | 24.5 |
| Endometrium 1 | tissue | 19.9 |
| Prostate | tissue | 17.9 |
| Fallopian tube | tissue | 17.2 |
| Heart muscle | tissue | 16.8 |
| Placenta | tissue | 15.8 |
| Thyroid gland | tissue | 13.8 |
| Vagina | tissue | 13.2 |
| Tongue | tissue | 12.8 |
| Kidney | tissue | 11.6 |
| Ovary | tissue | 9.6 |
| Adrenal gland | tissue | 9.6 |
| Frontal cortex | tissue | 9.1 |
| Caudate putamen | tissue | 9.0 |
| Skeletal muscle | tissue | 8.8 |
| Choroid plexus | tissue | 7.2 |
| Pancreas | tissue | 6.6 |
| Pituitary gland | tissue | 5.9 |
| Postcentral gyrus | tissue | 5.3 |
| Parathyroid gland | tissue | 5.1 |
| Testis | tissue | 4.4 |
| Spinal cord | tissue | 2.4 |
| Hippocampus | tissue | 1.6 |
| Locus coeruleus | tissue | 1.4 |
| Nucleus accumbens | tissue | 1.3 |
| Olfactory bulb | tissue | 1.0 |
| Substantia nigra | tissue | 0.9 |
| Medulla oblongata | tissue | 0.8 |
| Superior colliculi | tissue | 0.7 |
| Pons | tissue | 0.6 |
| Hypothalamus | tissue | 0.6 |
| Hippocampal formation | tissue | 0.6 |
| Septum | tissue | 0.6 |
| Cerebral cortex | tissue | 0.5 |
| Putamen | tissue | 0.5 |
| Midbrain | tissue | 0.5 |
| Thalamus | tissue | 0.5 |
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:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-214-5P | 97.34 | 66.50 | 617 |
| HSA-MIR-6859-3P | 97.26 | 64.69 | 428 |
| HSA-MIR-6798-3P | 94.55 | 68.78 | 325 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cd52 | ENSMUSG00000000682 |
| rattus_norvegicus | Cd52 | ENSRNOG00000015403 |
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 level | 1 |
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.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Macaca fascicularis | P32763 | 86.9% | Diamond |
| Canis lupus familiaris | Q28896 | 55.2% | 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).
| Symbol | Type | Entrez |
|---|---|---|
| ZNF683 | protein-coding | 257101 |
| CRYBG2 | protein-coding | 55057 |
| LIN28A | protein-coding | 79727 |
| SH3BGRL3 | protein-coding | 83442 |
| UBXN11 | protein-coding | 91544 |
| CEP85 | protein-coding | 64793 |
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)
| ID | Name | Type |
|---|---|---|
| IPR026643 | CAMPATH-1 | Family |
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:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 6OBD | Crystal structure of anti-GLD52 Fab complex with human GLD52 peptide mimetic | X-RAY DIFFRACTION | 2.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P31358-F1 | 68.22 | 0.00 |
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)
| Type | Positions |
|---|---|
| Gpi-anchor amidated serine | 36 |
Glycosylation sites (2)
| Type | Positions |
|---|---|
| N-linked (glcnac…) asparagine | 27, 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:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-163125 | Post-translational modification: synthesis of GPI-anchored proteins | curated |
| R-HSA-392499 | Metabolism of proteins | — |
| R-HSA-597592 | Post-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:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
8 GO namespaces:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| membrane | 2 |
| regulation of biological quality | 1 |
| metabolic process | 1 |
| binding | 1 |
| cell periphery | 1 |
| sperm flagellum | 1 |
| leaflet of membrane bilayer | 1 |
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 term | NS | Evidence |
|---|---|---|
| positive regulation of cytosolic calcium ion concentration | BP | direct assay |
Protein interactions and networks
STRING
showing 15 of 1,856 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CD52 | CD19 | P15391 | 654 |
| CD52 | CD22 | P20273 | 622 |
| CD52 | CD4 | P01730 | 621 |
| CD52 | CD8A | P01732 | 592 |
| CD52 | TNFRSF8 | P28908 | 572 |
| CD52 | SIGLEC10 | Q96LC7 | 572 |
| CD52 | CD5 | P06127 | 570 |
| CD52 | CD38 | P28907 | 568 |
| CD52 | CD7 | P09564 | 567 |
| CD52 | CD2 | P06729 | 549 |
| CD52 | CD33 | P20138 | 535 |
| CD52 | CTLA4 | P16410 | 505 |
| CD52 | CD37 | P11049 | 500 |
| CD52 | CD28 | P10747 | 493 |
| CD52 | NCOR2 | Q9Y618 | 485 |
IntAct
Human interaction partners of CD52 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
1 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| SIGLEC10 | direct interaction | 0.610 | 3 |
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:
| A | Effect | B | Mechanism |
|---|---|---|---|
| SATB1 | “up-regulates quantity by expression” | CD52 | “transcriptional regulation” |
| alemtuzumab | “down-regulates activity” | CD52 | binding |
Ligand–receptor pairs (CellPhoneDB) (1)
Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.
1 ligand–receptor pairs:
| Partner | This gene’s role | Signaling class |
|---|---|---|
| SIGLEC10 | ligand |
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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 2 |
| Benign | 2 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 19 predictions of 84):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 1:26318072–26318073 | donor_loss | 0.9900 | 5 |
| 1:26318772 | donor_gain | 0.9900 | |
| 1:26320169–26320170 | acceptor_loss | 0.9900 | 6 |
| 1:26318919 | donor_gain | 0.9400 | |
| 1:26318923 | donor_gain | 0.9100 | |
| 1:26318652 | donor_gain | 0.9000 | |
| 1:26318721 | donor_gain | 0.8900 | |
| 1:26320168 | acceptor_gain | 0.8100 | |
| 1:26318766 | donor_gain | 0.7700 | |
| 1:26318945 | donor_gain | 0.7600 |
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:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| S12 | 4 | 0.922 | 0.988 |
| L13 | 3 | 0.822 | 0.850 |
| F4 | 3 | 0.774 | 0.774 |
| S61 | 3 | 0.755 | 0.755 |
| F58 | 3 | 0.746 | 0.746 |
| L14 | 3 | 0.728 | 0.840 |
| I19 | 3 | 0.701 | 0.759 |
| Q18 | 3 | 0.634 | 0.662 |
| I54 | 2 | 0.793 | 0.821 |
| A51 | 2 | 0.710 | 0.783 |
| L8 | 2 | 0.670 | 0.752 |
| L47 | 2 | 0.659 | 0.685 |
| L9 | 2 | 0.648 | 0.681 |
| A53 | 2 | 0.645 | 0.664 |
| M16 | 2 | 0.599 | 0.603 |
| N52 | 2 | 0.587 | 0.587 |
| V15 | 1 | 0.841 | 0.841 |
| V50 | 1 | 0.701 | 0.701 |
| L57 | 1 | 0.666 | 0.666 |
| I11 | 1 | 0.659 | 0.659 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
2 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Breast Invasive Carcinoma (TCGA) | favorable | 0.000416 |
| Skin Cutaneous Melanoma (TCGA) | favorable | 0.000961 |
Disease associations
OMIM: gene MIM:114280 | disease phenotypes:
GWAS associations
2 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST004609_102 | Monocyte percentage of white cells | 7e-16 |
| GCST90002381_418 | Eosinophil count | 7e-13 |
EFO canonical traits (from GWAS)
2 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004842 | eosinophil 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:
| Drug | Modality | Max phase |
|---|---|---|
| ALEMTUZUMAB | Antibody | 4 |
| ALEMTUZUMAB BETA | Antibody | 2 |
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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | affects cotreatment, increases expression | 5 |
| Arsenic Trioxide | decreases expression, increases expression, affects cotreatment | 4 |
| Air Pollutants | increases expression, decreases expression, affects expression, increases abundance | 3 |
| perfluorooctanoic acid | decreases expression, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Fluorouracil | affects expression, affects reaction, decreases expression | 2 |
| Nickel | increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| GSK-J4 | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| pentanal | increases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Vorinostat | increases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | affects expression | 1 |
| Diuron | decreases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Silicon Dioxide | increases expression | 1 |
| Isotretinoin | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Targeted by drugs: Alemtuzumab