CDR2L

protein-coding

cerebellar degeneration related protein 2 like

Gene summary

Enables identical protein binding activity. Predicted to be involved in Golgi to secretory granule transport and vesicle transport along microtubule. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_014603.3

Inheritance

—

ClinVar variants

U:70

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.44

Max pathogenic AF

—

Genomic locus

chr17:74,987,632-75,005,800

External References & Databases

Ensembl (ENSG00000109089)

Transcript & Mutation Effects

hg38 • Region Span ~18.2 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 CDR2L variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 67

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014603.3. 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						0
missense			69 clinvar			69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	70	0	0	70

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014603.3	RefSeq	NP_055418.2	5	MANE Select
ENST00000337231.5	Ensembl	ENSP00000336587.5	5	MANE Select
ENST00000909937.1	Ensembl	ENSP00000579996.1	5	Standard
ENST00000909937.2	Ensembl	ENSP00000579996.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000337231
Coding exons: 5
Length: 18169
Individuals with no LoFs: 125140
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 125151
p: 0.0000439

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.73	172	249	0.692	0.0000174	2905
Missense (PolyPhen)		70	96.742	0.72358		1195
Synonymous	1.92	87	113	0.770	0.00000816	916
Loss of Function	2.05	7	15.8	0.443	6.78e-7	208

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	0.00012	0.00011	rare
Finnish	0.000095	0.000046	rare
European (Non-Finnish)	0.000068	0.000062	rare
South Asian	0.000035	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0896

Intolerance Scores

LoFtool: 0.771
RVIS EVS: -0.18
RVIS percentile EVS: 39.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0773

Gene Damage Prediction

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