CDR2L cerebellar degeneration related protein 2 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDR2Lprovided by HGNC
Official Full Name: cerebellar degeneration related protein 2 likeprovided by HGNC
Primary source: HGNC:HGNC:29999
See related: Ensembl:ENSG00000109089 AllianceGenome:HGNC:29999
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: HUMPPA
Summary: Enables identical protein binding activity. Predicted to be involved in Golgi to secretory granule transport and vesicle transport along microtubule. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in duodenum (RPKM 11.0), stomach (RPKM 7.1) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (74987632..75005800)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (75879422..75897596)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (72983727..73001895)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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.
Paraneoplastic Cerebellar Degeneration: The Importance of Including CDR2L as a Diagnostic Marker.
Title: Paraneoplastic Cerebellar Degeneration: The Importance of Including CDR2L as a Diagnostic Marker.
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.

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to secretory granule transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle transport along microtubule	IBA Inferred from Biological aspect of Ancestor more info

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-like

Names: paraneoplastic 62 kDa antigen; paraneoplastic 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.

mRNA and Protein(s)

NM_014603.3 → NP_055418.2 cerebellar degeneration-related protein 2-like

See identical proteins and their annotated locations for NP_055418.2

Status: VALIDATED

Source sequence(s)

AC087651, AW239343, BC013105, BC047534

Consensus CDS

CCDS11710.2

UniProtKB/Swiss-Prot

B4DFA7, Q15175, Q86X02

Related

ENSP00000336587.5, ENST00000337231.5

Conserved Domains (1) summary

COG1196
Location:2 → 241

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

74987632..75005800

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721852.3 → XP_006721915.1 cerebellar degeneration-related protein 2-like isoform X1

Conserved Domains (1) summary

TIGR02168
Location:23 → 225

SMC_prok_B; chromosome segregation protein SMC, common bacterial type