CPNE4 - copine 4 Gene

Also Known as CPN4; COPN4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 131034

About CPNE4

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:131,533,569-132,039,606 (from NCBI)

This gene has 14 transcripts (splice variants), 317 orthologues and 8 paralogues. Biased expression in prostate (RPKM 9.1), brain (RPKM 2.4) and 2 other tissues.

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]

CPNE4 Products (5)

mRNA Protein Name
NM_001289112.2 NP_001276041.1 copine-4 isoform 1
NM_001388326.1 NP_001375255.1 copine-4 isoform 3
NM_001388327.1 NP_001375256.1 copine-4 isoform 3
NM_130808.3 NP_570720.1 copine-4 isoform 2
NM_153429.2 NP_702907.1 copine-4 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12522145 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

CPNE4 Protein Structure

C2

C2: C2 domain (31 - 113)

C2

C2: C2 domain (162 - 245)

Copine

Copine: Copine (326 - 473)

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  • 500
  • 557 a.a.
Protein Preferred Names Protein Names

copine-4

  • copine 8

Related Diseases

Diseases Alias
Baraitser-Winter Syndrome
  • Fryns-Aftimos Syndrome

  • Brws

  • Cerebro-Frontofacial Syndrome, Type 3

  • Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

  • Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability

  • Trigonocephaly Ptosis Coloboma

  • Trigonocephaly Ptosis Intellectual Disability

  • Cerebrofrontofacial Syndrome Type 3

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 CPNE4 MGD MGI:1921270
Bos taurus CPNE4 VGNC VGNC:56215
Macaca mulatta CPNE4 VGNC VGNC:71466
Felis catus CPNE4 VGNC VGNC:61131
Canis familiaris CPNE4 VGNC VGNC:39563
Rattus norvegicus CPNE4 RGD RGD:1308844
Others CPNE4 NCBI