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

    Gene ID: 200008, updated on 10-Dec-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, Dec 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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