CPNE8 copine 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CPNE8provided by HGNC
Official Full Name: copine 8provided by HGNC
Primary source: HGNC:HGNC:23498
See related: Ensembl:ENSG00000139117 AllianceGenome:HGNC:23498
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: mouse all
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Genomic context

Location:: 12q12

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (38652203..38906835, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (38601932..38855989, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (39046005..39299393, complement)

Chromosome 12 - NC_000012.12 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CPNE8 Promotes Gastric Cancer Metastasis by Modulating Focal Adhesion Pathway and Tumor Microenvironment.
Title: CPNE8 Promotes Gastric Cancer Metastasis by Modulating Focal Adhesion Pathway and Tumor Microenvironment.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

D12S1820 (e-PCR)
- UniSTS:44037

SHGC-31202 (e-PCR)
- UniSTS:31507

D12S331 (e-PCR)
- UniSTS:60471

RH48252 (e-PCR)
- UniSTS:64569

RH94045 (e-PCR)
- UniSTS:83788

G64688 (e-PCR)
- UniSTS:163719

RH78833 (e-PCR)
- UniSTS:60039

G64687 (e-PCR)
- UniSTS:163720

D12S2001 (e-PCR)
- UniSTS:8080

G64690 (e-PCR)
- UniSTS:163740

G64689 (e-PCR)
- UniSTS:163741

SHGC-81670 (e-PCR)
- UniSTS:103870

SHGC-105720 (e-PCR)
- UniSTS:169425

G17654 (e-PCR)
- UniSTS:64985

SHGC-111123 (e-PCR)
- UniSTS:168155

G10701 (e-PCR)
- UniSTS:7672

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
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

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: copine-8

Names: copine VIII

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_153634.3 → NP_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

Q2TB41, Q86VY2, Q86YQ8

UniProtKB/TrEMBL

E7ENV7

Related

ENSP00000329748.5, ENST00000331366.10

Conserved Domains (3) summary

cd04047
Location:158 → 269

C2B_Copine; C2 domain second repeat in Copine

cd04048
Location:24 → 145

C2A_Copine; C2 domain first repeat in Copine

cd01459
Location:279 → 535

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: 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_000012.12 Reference GRCh38.p14 Primary Assembly

Range

38652203..38906835 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018852.2 → XP_016874341.1 copine-8 isoform X2

Conserved Domains (2) summary

cd04047
Location:1 → 108

C2B_Copine; C2 domain second repeat in Copine

cd01459
Location:118 → 374

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_047428345.1 → XP_047284301.1 copine-8 isoform X1
XM_011537951.4 → XP_011536253.1 copine-8 isoform X3

Conserved Domains (3) summary

cd04047
Location:158 → 269

C2B_Copine; C2 domain second repeat in Copine

cd04048
Location:24 → 145

C2A_Copine; C2 domain first repeat in Copine

cl00057
Location:279 → 379

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_011537952.4 → XP_011536254.1 copine-8 isoform X4

Conserved Domains (3) summary

cd04047
Location:158 → 269

C2B_Copine; C2 domain second repeat in Copine

cd04048
Location:24 → 145

C2A_Copine; C2 domain first repeat in Copine

cl00057
Location:279 → 320

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 ...