CD52

protein-coding

CD52 molecule, the group of CD molecules

Gene summary

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. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

CDW52

MANE transcript

NM_001803.3

Inheritance

—

ClinVar variants

U:11B:2

Top phenotype

CD52-related disorder

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr1:26,317,958-26,320,523

External References & Databases

Ensembl (ENSG00000169442)

Transcript & Mutation Effects

hg38 • Region Span ~2.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CD52 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 10

CD52-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001803.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			11 clinvar	1 clinvar		12
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	11	2	0	13

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001803.3	RefSeq	NP_001794.2	2	MANE Select
ENST00000374213.3	Ensembl	ENSP00000363330.2	2	MANE Select
ENST00001100343.1	Ensembl	ENSP00000770149.1	2	Standard
ENST00001100344.1	Ensembl	ENSP00000770150.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational modification: synthesis of GPI-anchored proteins
Post-translational protein modification
Metabolism of proteins

Biological Process

positive regulation of cytosolic calcium ion concentration
respiratory burst

Cellular Component

extracellular region
plasma membrane
membrane
anchored component of membrane
intrinsic component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374213
Coding exons: 2
Length: 2567
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.513	27	35.6	0.758	0.00000193	400
Missense (PolyPhen)		2	2.4551	0.81464		19
Synonymous	0.596	11	13.8	0.796	8.42e-7	120
Loss of Function	0.965	0	1.08	0.00	4.61e-8	12

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.129

Intolerance Scores

LoFtool: 0.375
RVIS EVS: 0.72
RVIS percentile EVS: 85.92

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium