1. Gene
  2. CNN2 - calponin 2 Gene

CNN2 - calponin 2 Gene

Homo sapiens
Gene ID: 1265 | Gene type: protein coding

About CNN2

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,026,608-1,039,065 (from NCBI)

This gene has 12 transcripts (splice variants), 147 orthologues and 5 paralogues. Ubiquitous expression in lymph node (RPKM 70.8), appendix (RPKM 62.8) and 24 other tissues.

Summary

The protein encoded by this gene, which can bind actin, Calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

CNN2 Products(4)

mRNA Protein Name
NM_001303499.2 NP_001290428.1 calponin-2 isoform c
NM_001303501.2 NP_001290430.1 calponin-2 isoform d
NM_004368.4 NP_004359.1 calponin-2 isoform a
NM_201277.3 NP_958434.1 calponin-2 isoform b
Protein Preferred Names Protein Names

calponin-2

calponin H2, smooth muscle

Related Diseases

Diseases Alias
Spastic Paraplegia 77, Autosomal Recessive

SPG77

Hereditary Spastic Paraplegia 77

Autosomal Recessive Spastic Paraplegia 77

Autosomal Recessive Spastic Paraplegia Type 77

Granulomatous Amebic Encephalitis

Granulomatous Amoebic Encephalitis

Acanthamoeba Encephalitis

Acanthamoeba Granulomatous Encephalitis

Granulomatous Amebic Encephalitis Due To Acanthamoeba

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
Macaca mulatta CNN2 VGNC VGNC:109603
Bos taurus CNN2 VGNC VGNC:27509
Canis familiaris CNN2 VGNC VGNC:57307
Mus musculus CNN2 MGD MGI:105093
Rattus norvegicus CNN2 RGD RGD:1589807
Others CNN2 NCBI