CPNE5 copine 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CPNE5provided by HGNC
Official Full Name: copine 5provided by HGNC
Primary source: HGNC:HGNC:2318
See related: Ensembl:ENSG00000124772 MIM:604209; AllianceGenome:HGNC:2318
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: CPN5; COPN5
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. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015]
Expression: Biased expression in brain (RPKM 15.7), lymph node (RPKM 8.6) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.2

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (36740775..36839998, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (36561362..36660596, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (36708552..36807774, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High expression of CPNE5 and CPNE9 predicts positive prognosis in multiple myeloma.
Title: High expression of CPNE5 and CPNE9 predicts positive prognosis in multiple myeloma.
Data revealed that CPNE5 mRNA expression was significantly lower in ESCC tissues and cell lines and correlated with significantly shorter overall survival. Multivariable analysis identified low CPNE5 expression to be an independent prognostic factor of OS. Analysis of recurrence patterns revealed that significantly more patients with local recurrence expressed lower levels of CPNE5 mRNA.
Title: Copine 5 expression predicts prognosis following curative resection of esophageal squamous cell carcinoma.
Results provide the first evidence of genetic variants in the CPNE5 gene influencing both alcohol dependence and obesity
Title: Genetic variants in the CPNE5 gene are associated with alcohol dependence and obesity in Caucasian populations.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH46641 (e-PCR)
- UniSTS:65292

SGC30669 (e-PCR)
- UniSTS:61875

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-dependent phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of dendrite extension	IDA Inferred from Direct Assay more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: copine-5

Names: copine V

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)

NM_001314017.1 → NP_001300946.1 copine-5 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several 3' exons and contains an alternate 3' terminal exon compared to variant 1. This results in a novel 3' coding region and 3' UTR compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AA912142, AI951562, DA265730

Conserved Domains (1) summary

cd04048
Location:23 → 135

C2A_Copine; C2 domain first repeat in Copine
NM_001314018.2 → NP_001300947.1 copine-5 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several 5' exons and contains an alternate 5' terminal exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 7 both encode the same isoform (c).

Source sequence(s)

BC036840, BC053872, Z85996

Consensus CDS

CCDS83078.1

UniProtKB/Swiss-Prot

Q9HCH3

Related

ENSP00000376885.2, ENST00000393189.2

Conserved Domains (1) summary

cd01459
Location:2 → 262

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. ...
NM_001314019.2 → NP_001300948.1 copine-5 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks several 5' exons and contains an alternate 5' terminal exon and internal exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (d).

Source sequence(s)

BC036840, BC053872, Z85996

UniProtKB/Swiss-Prot

Q9HCH3

Related

ENST00000459703.5

Conserved Domains (1) summary

pfam07002
Location:1 → 213

Copine
NM_001314020.2 → NP_001300949.1 copine-5 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks several 5' exons and an internal exon and contains an alternate 5' terminal exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (d).

Source sequence(s)

BC012765, BC053872, Z85996

UniProtKB/Swiss-Prot

Q9HCH3

Conserved Domains (1) summary

pfam07002
Location:1 → 213

Copine
NM_001376888.1 → NP_001363817.1 copine-5 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variants 4 and 5, encodes isoform d.

Source sequence(s)

Z85996

Conserved Domains (1) summary

pfam07002
Location:1 → 213

Copine
NM_001376889.1 → NP_001363818.1 copine-5 isoform e

Status: REVIEWED

Source sequence(s)

KF510949, Z85996

Conserved Domains (3) summary

cd04047
Location:194 → 305

C2B_Copine; C2 domain second repeat in Copine

cd04048
Location:23 → 137

C2A_Copine; C2 domain first repeat in Copine

cd01459
Location:315 → 538

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. ...
NM_001376890.1 → NP_001363819.1 copine-5 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variant 3, encodes isoform c.

Source sequence(s)

Z85996

Consensus CDS

CCDS83078.1

Conserved Domains (1) summary

cd01459
Location:2 → 262

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. ...
NM_001376891.1 → NP_001363820.1 copine-5 isoform f

Status: REVIEWED

Source sequence(s)

Z85996

Conserved Domains (1) summary

cd01459
Location:2 → 229

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. ...
NM_001376892.1 → NP_001363821.1 copine-5 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variant 11, encodes isoform g.

Source sequence(s)

Z85996

Conserved Domains (1) summary

pfam07002
Location:1 → 191

Copine
NM_001376893.1 → NP_001363822.1 copine-5 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (11), as well as variant 10, encodes isoform g.

Source sequence(s)

Z85996

Conserved Domains (1) summary

pfam07002
Location:1 → 191

Copine
NM_001376894.1 → NP_001363823.1 copine-5 isoform i

Status: REVIEWED

Source sequence(s)

Z85996

Conserved Domains (1) summary

cd01459
Location:2 → 204

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. ...
NM_001376895.1 → NP_001363824.1 copine-5 isoform h

Status: REVIEWED

Source sequence(s)

Z85996

Conserved Domains (1) summary

cd01459
Location:2 → 229

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. ...
NM_001410887.1 → NP_001397816.1 copine-5 isoform j

Status: REVIEWED

Source sequence(s)

KF510949, Z85996

Consensus CDS

CCDS93904.1

UniProtKB/TrEMBL

A0A0J9YWA1

Related

ENSP00000487872.2, ENST00000633136.2
NM_020939.2 → NP_065990.1 copine-5 isoform a

See identical proteins and their annotated locations for NP_065990.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AI989513, BC036840, BC053872, DA265730, DB320492, Z85996

Consensus CDS

CCDS4825.1

UniProtKB/Swiss-Prot

Q7Z6C8, Q9HCH3

Related

ENSP00000244751.2, ENST00000244751.7

Conserved Domains (3) summary

cd04047
Location:177 → 288

C2B_Copine; C2 domain second repeat in Copine

cd04048
Location:23 → 137

C2A_Copine; C2 domain first repeat in Copine

cd01459
Location:298 → 554

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. ...

RNA

NR_164866.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

KF510949, Z85996

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

36740775..36839998 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047419191.1 → XP_047275147.1 copine-5 isoform X6

Conserved Domains (2) summary

cd04047
Location:46 → 157

C2B_Copine; C2 domain second repeat in Copine

cd01459
Location:167 → 423

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. ...
XM_011514769.2 → XP_011513071.1 copine-5 isoform X2

Conserved Domains (3) summary

cd04047
Location:177 → 288

C2B_Copine; C2 domain second repeat in Copine

cd04048
Location:23 → 137

C2A_Copine; C2 domain first repeat in Copine

cd01459
Location:298 → 521

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. ...
XM_011514768.2 → XP_011513070.1 copine-5 isoform X1

Conserved Domains (3) summary

cd04047
Location:194 → 305

C2B_Copine; C2 domain second repeat in Copine

cd04048
Location:23 → 137

C2A_Copine; C2 domain first repeat in Copine

cd01459
Location:315 → 538

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. ...
XM_011514770.2 → XP_011513072.1 copine-5 isoform X3

See identical proteins and their annotated locations for XP_011513072.1

Conserved Domains (3) summary

cd04047
Location:156 → 267

C2B_Copine; C2 domain second repeat in Copine

cd04048
Location:2 → 99

C2A_Copine; C2 domain first repeat in Copine

cd01459
Location:277 → 500

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. ...
XM_047419190.1 → XP_047275146.1 copine-5 isoform X3
XM_011514771.3 → XP_011513073.1 copine-5 isoform X3

See identical proteins and their annotated locations for XP_011513073.1

Conserved Domains (3) summary

cd04047
Location:156 → 267

C2B_Copine; C2 domain second repeat in Copine

cd04048
Location:2 → 99

C2A_Copine; C2 domain first repeat in Copine

cd01459
Location:277 → 500

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. ...
XM_017011139.3 → XP_016866628.1 copine-5 isoform X7
XM_011514773.3 → XP_011513075.1 copine-5 isoform X5

Conserved Domains (2) summary

cd04047
Location:1 → 108

C2B_Copine; C2 domain second repeat in Copine

cd01459
Location:118 → 341

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. ...
XM_011514772.1 → XP_011513074.1 copine-5 isoform X4

Conserved Domains (3) summary

cd04047
Location:194 → 305

C2B_Copine; C2 domain second repeat in Copine

cd04048
Location:23 → 137

C2A_Copine; C2 domain first repeat in Copine

cl00057
Location:315 → 495

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 ...
XM_047419192.1 → XP_047275148.1 copine-5 isoform X8
XM_047419193.1 → XP_047275149.1 copine-5 isoform X9