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CPNE4 copine 4 [ Homo sapiens (human) ]

Gene ID: 131034, updated on 11-Jun-2021

Summary

Official Symbol
CPNE4provided by HGNC
Official Full Name
copine 4provided by HGNC
Primary source
HGNC:HGNC:2317
See related
Ensembl:ENSG00000196353 MIM:604208
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
Also known as
CPN4; COPN4
Summary
This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression
Biased expression in prostate (RPKM 9.1), brain (RPKM 2.4) and 2 other tissues See more
Orthologs
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Genomic context

See CPNE4 in Genome Data Viewer
Location:
3q22.1
Exon count:
28
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (131533569..132285696, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (131252413..131758450, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374114 Neighboring gene mitochondrial ribosomal protein L3 Neighboring gene BCL2 like 12 pseudogene 1 Neighboring gene uncharacterized LOC105374113 Neighboring gene uncharacterized LOC105374111 Neighboring gene microRNA 5704 Neighboring gene PSMC2 pseudogene 1 Neighboring gene tRNA-Cys (anticodon GCA) 6-1 Neighboring gene tRNA-Cys (anticodon GCA) 9-1 Neighboring gene ribosomal protein L7 pseudogene 16 Neighboring gene g2/M phase-specific E3 ubiquitin-protein ligase-like Neighboring gene acid phosphatase 3

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
GeneReviews: Not available
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC15604

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
copine-4
Names
copine 8
copine IV

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001289112.2NP_001276041.1  copine-4 isoform 1

    See identical proteins and their annotated locations for NP_001276041.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AF465771, AK295557, BC028613, BM930746, DC330179
    Consensus CDS
    CCDS75010.1
    UniProtKB/Swiss-Prot
    Q96A23
    UniProtKB/TrEMBL
    B7Z370, Q4G168
    Related
    ENSP00000478878.1, ENST00000617767.4
    Conserved Domains (3) summary
    cd04047
    Location:173285
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:42158
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:344561
    Copine; Copine
  2. NM_001388326.1NP_001375255.1  copine-4 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC076961, AC107027, AC135002, AC136276
    Conserved Domains (3) summary
    cd04047
    Location:42154
    C2B_Copine; C2 domain second repeat in Copine
    pfam07002
    Location:213430
    Copine
    cl14603
    Location:127
    C2; C2 domain
  3. NM_001388327.1NP_001375256.1  copine-4 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC076961, AC107027, AC135002, AC136276
    Conserved Domains (3) summary
    cd04047
    Location:42154
    C2B_Copine; C2 domain second repeat in Copine
    pfam07002
    Location:213430
    Copine
    cl14603
    Location:127
    C2; C2 domain
  4. NM_130808.3NP_570720.1  copine-4 isoform 2

    See identical proteins and their annotated locations for NP_570720.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation from a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC014396, BC028613, DA156722, DA194161
    Consensus CDS
    CCDS3072.1
    UniProtKB/Swiss-Prot
    Q96A23
    UniProtKB/TrEMBL
    Q4G168
    Related
    ENSP00000411904.1, ENST00000429747.6
    Conserved Domains (3) summary
    cd04047
    Location:155267
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:24140
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:326543
    Copine
  5. NM_153429.2NP_702907.1  copine-4 isoform 1

    See identical proteins and their annotated locations for NP_702907.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AF465771, BC028613, BM930746
    Consensus CDS
    CCDS75010.1
    UniProtKB/Swiss-Prot
    Q96A23
    UniProtKB/TrEMBL
    Q4G168
    Related
    ENSP00000424853.1, ENST00000512332.5
    Conserved Domains (3) summary
    cd04047
    Location:173285
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:42158
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:344561
    Copine; Copine

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    131533569..132285696 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453338.1XP_024309106.1  copine-4 isoform X1

    Conserved Domains (3) summary
    cd04047
    Location:177289
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:46162
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:348565
    Copine
  2. XM_017005696.1XP_016861185.1  copine-4 isoform X6

  3. XM_024453340.1XP_024309108.1  copine-4 isoform X4

    Conserved Domains (3) summary
    cd04047
    Location:42154
    C2B_Copine; C2 domain second repeat in Copine
    pfam07002
    Location:213430
    Copine
    cl14603
    Location:127
    C2; C2 domain
  4. XM_017005695.2XP_016861184.1  copine-4 isoform X5

    Conserved Domains (2) summary
    pfam07002
    Location:186403
    Copine; Copine
    cl14603
    Location:90127
    C2; C2 domain
  5. XM_024453339.1XP_024309107.1  copine-4 isoform X2

    Related
    ENSP00000423811.1, ENST00000511604.5
    Conserved Domains (3) summary
    cd04047
    Location:155267
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:24140
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:326543
    Copine
  6. XM_011512408.2XP_011510710.1  copine-4 isoform X4

    See identical proteins and their annotated locations for XP_011510710.1

    Conserved Domains (3) summary
    cd04047
    Location:42154
    C2B_Copine; C2 domain second repeat in Copine
    pfam07002
    Location:213430
    Copine
    cl14603
    Location:127
    C2; C2 domain
  7. XM_017005694.2XP_016861183.2  copine-4 isoform X3

    Conserved Domains (3) summary
    cd04047
    Location:177289
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:46162
    C2A_Copine; C2 domain first repeat in Copine
    cl00057
    Location:348453
    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 ...
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