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CPNE8 copine 8 [ Homo sapiens (human) ]

Gene ID: 144402, updated on 1-Jun-2020

Summary

Official Symbol
CPNE8provided by HGNC
Official Full Name
copine 8provided by HGNC
Primary source
HGNC:HGNC:23498
See related
Ensembl:ENSG00000139117
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in spleen (RPKM 2.0), placenta (RPKM 2.0) and 24 other tissues See more
Orthologs

Genomic context

See CPNE8 in Genome Data Viewer
Location:
12q12
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (38652200..38906269, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (39046002..39300395, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene neurofibromin 1 pseudogene 12 Neighboring gene ALG10 alpha-1,2-glucosyltransferase B Neighboring gene CPNE8 antisense RNA 1 Neighboring gene sucrase-isomaltase (alpha-glucosidase) pseudogene Neighboring gene uncharacterized LOC107984484

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129645, MGC129646

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_153634.3NP_705898.1  copine-8

    See identical proteins and their annotated locations for NP_705898.1

    Status: REVIEWED

    Source sequence(s)
    AK094998, BC046366, BX538055, R51494
    Consensus CDS
    CCDS8733.1
    UniProtKB/Swiss-Prot
    Q86YQ8
    Related
    ENSP00000329748.5, ENST00000331366.10
    Conserved Domains (3) summary
    cd04047
    Location:158269
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:24145
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:279535
    vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    38652200..38906269 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018852.1XP_016874341.1  copine-8 isoform X1

    Conserved Domains (2) summary
    cd04047
    Location:1108
    C2B_Copine; C2 domain second repeat in Copine
    cd01459
    Location:118374
    vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...
  2. XM_011537951.3XP_011536253.1  copine-8 isoform X2

    Conserved Domains (3) summary
    cd04047
    Location:158269
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:24145
    C2A_Copine; C2 domain first repeat in Copine
    cl00057
    Location:279379
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  3. XM_011537952.3XP_011536254.1  copine-8 isoform X3

    Conserved Domains (3) summary
    cd04047
    Location:158269
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:24145
    C2A_Copine; C2 domain first repeat in Copine
    cl00057
    Location:279320
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RNA

  1. XR_944501.3 RNA Sequence

  2. XR_245896.4 RNA Sequence

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