1. Gene
  2. CPNE4 - copine 4 Gene

CPNE4 - copine 4 Gene

Homo sapiens

Also known as CPN4; COPN4

Gene ID: 131034 | Gene type: protein coding

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

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