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CDCP2 CUB domain containing protein 2 [ Homo sapiens (human) ]

Gene ID: 200008, updated on 2-Nov-2024

Summary

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Official Symbol
CDCP2provided by HGNC
Official Full Name
CUB domain containing protein 2provided by HGNC
Primary source
HGNC:HGNC:27297
See related
Ensembl:ENSG00000157211 MIM:612320; AllianceGenome:HGNC:27297
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
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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See CDCP2 in Genome Data Viewer
Location:
1p32.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (54132687..54153000, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (54015559..54035905, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54598360..54618673, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 4781 Neighboring gene transcription elongation factor A N-terminal and central domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1053 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54576503-54576742 Neighboring gene COX7B pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54603591-54604217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54630713-54631214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:54646436-54646936 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54652758-54652971 Neighboring gene cytochrome b5 reductase like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54689121-54689841 Neighboring gene mitochondrial ribosomal protein L37 Neighboring gene single stranded DNA binding protein 3

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 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. Investigation of the PARK10 gene in Parkinson disease. Li YJ, et al. Ann Hum Genet, 2007 Sep. PMID 17388942
  2. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of the PARK10 gene in Parkinson disease.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Potential readthrough

Included gene: CYB5RL

Homology

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
CUB domain-containing protein 2

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_001353655.3 → NP_001340584.1  CUB domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AL357673
    Consensus CDS
    CCDS85977.1
    UniProtKB/Swiss-Prot
    A0A1B0GU47, Q5VXM1, Q6ZWJ3
    Related
    ENSP00000489959.1, ENST00000530059.3
    Conserved Domains (3) summary
    cd00041
    Location:30 → 141
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00431
    Location:257 → 370
    CUB; CUB domain
    cl27758
    Location:380 → 463
    Zona_pellucida; Zona pellucida-like domain

  2. NM_001412141.1 → NP_001399070.1  CUB domain-containing protein 2 isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses the same exon combination as variant (2) but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (3) has a frameshifted C-terminus compared to isoform 2.
    Source sequence(s)
    CP068277

  3. NM_201546.5 → NP_963840.2  CUB domain-containing protein 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_963840.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the allele encoded by the GRCh38 reference genome and encodes isoform (2).
    Source sequence(s)
    AL357673
    Consensus CDS
    CCDS588.2
    Related
    ENSP00000360381.1, ENST00000371330.1
    Conserved Domains (2) summary
    cd00041
    Location:30 → 141
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00431
    Location:257 → 370
    CUB; CUB domain

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    54132687..54153000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    54015559..54035905 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VXM1.2 GenPept UniProtKB/Swiss-Prot:Q5VXM1

Gene LinkOut

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