CD52 CD52 molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD52provided by HGNC
Official Full Name: CD52 moleculeprovided by HGNC
Primary source: HGNC:HGNC:1804
See related: Ensembl:ENSG00000169442 MIM:114280; AllianceGenome:HGNC:1804
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HE5; CDW52; EDDM5
Summary: Involved in positive regulation of cytosolic calcium ion concentration. Predicted to be located in extracellular region and plasma membrane. Predicted to be intrinsic component of plasma membrane. Predicted to be active in sperm midpiece. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in lymph node (RPKM 265.0), spleen (RPKM 195.7) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (26317958..26320523)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (26155410..26157976)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (26644449..26647014)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CD52 mRNA expression predicts prognosis and response to immune checkpoint blockade in melanoma.
Title: CD52 mRNA expression predicts prognosis and response to immune checkpoint blockade in melanoma.
Base-Edited CAR7 T Cells for Relapsed T-Cell Acute Lymphoblastic Leukemia.
Title: Base-Edited CAR7 T Cells for Relapsed T-Cell Acute Lymphoblastic Leukemia.
Mutations in PIGA cause a CD52-/GPI-anchor-deficient phenotype complicating alemtuzumab treatment in T-cell prolymphocytic leukemia.
Title: Mutations in PIGA cause a CD52-/GPI-anchor-deficient phenotype complicating alemtuzumab treatment in T-cell prolymphocytic leukemia.
High expression of CD52 in adipocytes: a potential therapeutic target for obesity with type 2 diabetes.
Title: High expression of CD52 in adipocytes: a potential therapeutic target for obesity with type 2 diabetes.
CD52 Is Elevated on B cells of SLE Patients and Regulates B Cell Function.
Title: CD52 Is Elevated on B cells of SLE Patients and Regulates B Cell Function.
This polyclonal mutational landscape in the PIGA gene was also found in CD52(-) T cells present.
Title: High Mutation Frequency of the PIGA Gene in T Cells Results in Reconstitution of GPI Anchor(-)/CD52(-) T Cells That Can Give Early Immune Protection after Alemtuzumab-Based T Cell-Depleted Allogeneic Stem Cell Transplantation.
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.
Title: CD52 glycan binds the proinflammatory B box of HMGB1 to engage the Siglec-10 receptor and suppress human T cell function.
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.
Title: Identification of campath-1 (CD52) as novel drug target in neoplastic stem cells in 5q-patients with MDS and AML.
A molecular and computational diagnostic approach identifies FOXP3, ICOS, CD52 and CASP1 as the most informative biomarkers in acute graft-versus-host disease.
Title: A molecular and computational diagnostic approach identifies FOXP3, ICOS, CD52 and CASP1 as the most informative biomarkers in acute graft-versus-host disease.
carbohydrate moiety of sperm protein interferes with the complement system via binding to C1q
Title: The N-linked carbohydrate moiety of male reproductive tract CD52 (mrt-CD52) interferes with the complement system via binding to C1q.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3354 (e-PCR)
- UniSTS:57392

RH70873 (e-PCR)
- UniSTS:44478

G62004 (e-PCR)
- UniSTS:139225

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in positive regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cytosolic calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed
involved_in respiratory burst	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in side of membrane	IEA Inferred from Electronic Annotation more info
is_active_in sperm midpiece	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: CAMPATH-1 antigen

Names: CD52 antigen (CAMPATH-1 antigen); CDW52 antigen (CAMPATH-1 antigen); HEL-S-171mP; cambridge pathology 1 antigen; epididymal secretory protein E5; epididymis secretory sperm binding protein Li 171mP; human epididymis-specific protein 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.