CDR2 cerebellar degeneration related protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDR2provided by HGNC
Official Full Name: cerebellar degeneration related protein 2provided by HGNC
Primary source: HGNC:HGNC:1799
See related: Ensembl:ENSG00000140743 MIM:117340; AllianceGenome:HGNC:1799
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: Yo; CDR62
Summary: Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 38.3), thyroid (RPKM 28.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (22345936..22374619, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (21842595..21871275)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (22357257..22385940, complement)

Chromosome 16 - NC_000016.10 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 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?

A cerebellar degeneration-related protein 2-like cell-based assay for anti-Yo detection in patients with paraneoplastic cerebellar degeneration.
Title: A cerebellar degeneration-related protein 2-like cell-based assay for anti-Yo detection in patients with paraneoplastic cerebellar degeneration.
MicroRNA 452 regulates ASB8, NOL8, and CDR2 expression in colorectal cancer cells.
Title: MicroRNA 452 regulates ASB8, NOL8, and CDR2 expression in colorectal cancer cells.
Our data pinpointed the enrichment of acquired immune response, particularly high density of CD8+ lymphocytes, and high-level expression of CDR-related antigens in anti-Yo paraneoplastic cerebellar degeneration ovarian tumours.
Title: Transcriptomic immune profiling of ovarian cancers in paraneoplastic cerebellar degeneration associated with anti-Yo antibodies.
Paraneoplastic cerebellar degenerations with anti-Yo antibodies (Yo-PCD) tumors differed from the 116 control tumors by more abundant T and B cells infiltration occasionally organized in tertiary lymphoid structures harboring CDR2L protein deposits. 65% of Yo-PCD tumors cohort presented at least one somatic mutation in CDR2 and CDR2L with a predominance of missense mutations.
Title: Genetic alterations and tumor immune attack in Yo paraneoplastic cerebellar degeneration.
Both cerebellar degeneration related protein 2 (CDR2) and cerebellar degeneration-related antigen CDR2L (CDR2L) are more widely expressed than previously thought, both in normal and cancerous tissues.
Title: Cerebellar degeneration-related proteins 2 and 2-like are present in ovarian cancer in patients with and without Yo antibodies.
the role of cdr2 in experimental models of Parkinson's disease, is reported.
Title: Proteolytic degradation and potential role of onconeural protein cdr2 in neurodegeneration.
Onconeuronal antigen Cdr2 correlates with HIF prolyl-4-hydroxylase PHD1 and worse prognosis in renal cell carcinoma.
Title: Onconeuronal antigen Cdr2 correlates with HIF prolyl-4-hydroxylase PHD1 and worse prognosis in renal cell carcinoma.
This study shows a very high frequency of HER2 overexpression in breast cancers in patients with anti-Yo-associated paraneoplastic cerebellar degeneration.
Title: Human epidermal growth factor receptor 2 overexpression in breast cancer of patients with anti-Yo--associated paraneoplastic cerebellar degeneration.
The association between Yo and CCDC104 antibodies in paraneoplastic neurological syndromes may indicate functional similarities.
Title: Antibody to CCDC104 is associated with a paraneoplastic antibody to CDR2 (anti-Yo).
The results suggest that Yo antibodies are not only related to the expression of CDR2 alone, but also to immune dysregulation.
Title: CDR2 antigen and Yo antibodies.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

SHGC-12405 (e-PCR)
- UniSTS:76322

SHGC-61181 (e-PCR)
- UniSTS:23860

SHGC-30064 (e-PCR)
- UniSTS:29014

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cerebellar degeneration-related protein 2

Names: Yo paraneoplastic antigen; cerebellar degeneration-related protein 2, 62kDa; major Yo paraneoplastic antigen; paraneoplastic cerebellar degeneration-associated antigen

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.