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

Gene ID: 30850, updated on 27-Nov-2024

Summary

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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, Nov 2024]
Expression
Ubiquitous expression in duodenum (RPKM 11.0), stomach (RPKM 7.1) and 23 other tissues See more
Orthologs
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Genomic context

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See CDR2L in Genome Data Viewer
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_000017.11Genomic Context describing neighboring genes Neighboring gene HID1 domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8947 Neighboring gene HID1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72978097-72979046 Neighboring gene uncharacterized LOC124904058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:72983565-72984066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72989567-72990068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72990069-72990568 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73008409-73009092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73009093-73009775 Neighboring gene mitochondrial ribosomal protein L58 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73015923-73017122 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73021286-73021443 Neighboring gene RNA, U6 small nuclear 362, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. CDR2L Antibodies: A New Player in Paraneoplastic Cerebellar Degeneration. Eichler TW, et al. PLoS One, 2013. PMID 23823982, Free PMC Article
  2. Paraneoplastic Cerebellar Degeneration: The Importance of Including CDR2L as a Diagnostic Marker. Herdlevær I, et al. Neurol Neuroimmunol Neuroinflamm, 2021 Mar. PMID 33531379, Free PMC Article
  3. CDR2L Is the Major Yo Antibody Target in Paraneoplastic Cerebellar Degeneration. Kråkenes T, et al. Ann Neurol, 2019 Aug. PMID 31148214
  4. A cerebellar degeneration-related protein 2-like cell-based assay for anti-Yo detection in patients with paraneoplastic cerebellar degeneration. Erikstad KI, et al. Eur J Neurol, 2023 Jun. PMID 36912432
  5. Genetic alterations and tumor immune attack in Yo paraneoplastic cerebellar degeneration. Small M, et al. Acta Neuropathol, 2018 Apr. PMID 29299667

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
Submit: New GeneRIF Correction

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

Homology

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)

  1. 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

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    74987632..75005800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    75879422..75897596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315894.1 → XP_054171869.1  cerebellar degeneration-related protein 2-like isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86X02.2 GenPept UniProtKB/Swiss-Prot:Q86X02

Gene LinkOut

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