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CNN2 calponin 2 [ Homo sapiens (human) ]

Gene ID: 1265, updated on 11-Sep-2019

Summary

Official Symbol
CNN2provided by HGNC
Official Full Name
calponin 2provided by HGNC
Primary source
HGNC:HGNC:2156
See related
Ensembl:ENSG00000064666 MIM:602373
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Ubiquitous expression in lymph node (RPKM 70.8), appendix (RPKM 62.8) and 24 other tissues See more
Orthologs

Genomic context

See CNN2 in Genome Data Viewer
Location:
19p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (1026608..1039065)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1026274..1039064)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor NMDA type subunit 3B Neighboring gene transmembrane protein 259 Neighboring gene RNA, U6 small nuclear 2 Neighboring gene ATP binding cassette subfamily A member 7 Neighboring gene Rho GTPase activating protein 45 Neighboring gene RNA polymerase II subunit E

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
    Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actomyosin structure organization IEA
Inferred from Electronic Annotation
more info
 
cellular response to mechanical stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton organization TAS
Traceable Author Statement
more info
PubMed 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
regulation of actin filament-based process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell-cell junction TAS
Traceable Author Statement
more info
PubMed 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
focal adhesion HDA PubMed 
membrane HDA PubMed 
specific granule lumen TAS
Traceable Author Statement
more info
 
stress fiber IDA
Inferred from Direct Assay
more info
PubMed 
tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
calponin-2
Names
calponin H2, smooth muscle
neutral calponin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001303499.2NP_001290428.1  calponin-2 isoform c

    See identical proteins and their annotated locations for NP_001290428.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate in-frame splice sites in the central coding region, compared to variant 4. The encoded isoform (c) is shorter than isoform d.
    Source sequence(s)
    AA283126, AC011558, AK293171, BC141818, HY174321
    Consensus CDS
    CCDS77204.1
    UniProtKB/Swiss-Prot
    Q99439
    UniProtKB/TrEMBL
    B4DDF4
    Related
    ENSP00000457968.1, ENST00000565096.6
    Conserved Domains (2) summary
    pfam00402
    Location:195218
    Calponin; Calponin family repeat
    cl27700
    Location:19179
    Calponin; Calponin family repeat
  2. NM_001303501.2NP_001290430.1  calponin-2 isoform d

    See identical proteins and their annotated locations for NP_001290430.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (d).
    Source sequence(s)
    AA283126, AC011558, AK300788, BC141818, HY174321
    Consensus CDS
    CCDS77205.1
    UniProtKB/Swiss-Prot
    Q99439
    UniProtKB/TrEMBL
    B4DUT8
    Related
    ENSP00000456436.1, ENST00000562958.6
    Conserved Domains (2) summary
    pfam00402
    Location:227250
    Calponin; Calponin family repeat
    cl27700
    Location:19211
    Calponin; Calponin family repeat
  3. NM_004368.4NP_004359.1  calponin-2 isoform a

    See identical proteins and their annotated locations for NP_004359.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in the central coding region, compared to variant 4. The encoded isoform (a) is shorter than isoform d.
    Source sequence(s)
    AA283126, AC011558, BC141818, HY174321
    Consensus CDS
    CCDS12053.1
    UniProtKB/Swiss-Prot
    Q99439
    Related
    ENSP00000263097.2, ENST00000263097.9
    Conserved Domains (2) summary
    pfam00402
    Location:206229
    Calponin; Calponin family repeat
    cl27700
    Location:19190
    Calponin; Calponin family repeat
  4. NM_201277.3NP_958434.1  calponin-2 isoform b

    See identical proteins and their annotated locations for NP_958434.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. The encoded isoform (b) is shorter than isoform d.
    Source sequence(s)
    AA283126, AC011558, AK057960, BC141818, HY174321
    Consensus CDS
    CCDS12054.1
    UniProtKB/Swiss-Prot
    Q99439
    Related
    ENSP00000340129.2, ENST00000348419.7
    Conserved Domains (2) summary
    cd00014
    Location:31127
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    pfam00402
    Location:167190
    Calponin; Calponin family repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    1026608..1039065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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