CPNE7 - copine 7 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27132

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to calcium ion IDA
IDA: Inferred from direct assay
21087455 GOA
Cellular Component GO Annotation Evidence References 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

C2

C2: C2 domain (29 - 112)

C2

C2: C2 domain (236 - 320)

Copine

Copine: Copine (401 - 548)

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  • 500
  • 600
  • 633 a.a.
Protein Preferred Names Protein Names

copine-7

  • copine VII

CPNE7 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CPNE7 Q9UBL6 ADAMTSL4 Homo sapiens Q6UY14-3 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others CPNE7 NCBI