CPNE7 - copine 7 Gene

Homo sapiens

Gene ID: 27132 | Gene type: protein coding

About CPNE7

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,575,758-89,597,246 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues and 8 paralogues. Broad expression in brain (RPKM 2.3), stomach (RPKM 1.2) and 16 other tissues.

Summary

This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

CPNE7 Products(2)

mRNA	Protein	Name
NM_014427.5	NP_055242.1	copine-7 isoform b
NM_153636.3	NP_705900.1	copine-7 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to calcium ion	IDA IDA: Inferred from direct assay	21087455	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	21087455	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21087455	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	21087455	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CPNE7 Protein Structure

Copine

0
100
200
300
400
500
633 a.a.

Protein Preferred Names

Protein Names

copine-7

copine VII

Related Diseases

Diseases

Alias

Dentin Caries

Compound Dental Caries	Dental Caries Extending Into Dentine
Dental Caries Extending Into Dentin

Nephronophthisis 3

NPHP3	Nph3
Adolescent Nephronophthisis	Nephronophthisis, Type 3

Dentin Sensitivity

Sensitive Dentin

Kbg Syndrome

KBGS	Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies	Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome	Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03109	CPNE7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CPNE7	MGD	MGI:2142747
Macaca mulatta	CPNE7	VGNC	VGNC:71469
Bos taurus	CPNE7	VGNC	VGNC:27663
Felis catus	CPNE7	VGNC	VGNC:61134
Rattus norvegicus	CPNE7	RGD	RGD:1307466
Canis familiaris	CPNE7	VGNC	VGNC:39566

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