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CNN2 calponin 2 [ Homo sapiens (human) ]

Gene ID: 1265, updated on 11-Apr-2024

Summary

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Official Symbol
CNN2provided by HGNC
Official Full Name
calponin 2provided by HGNC
Primary source
HGNC:HGNC:2156
See related
Ensembl:ENSG00000064666 MIM:602373; AllianceGenome:HGNC:2156
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
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Genomic context

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Location:
19p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1026608..1039065)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (989277..1001734)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1026607..1039064)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor NMDA type subunit 3B Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1009528-1009718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1014734-1015267 Neighboring gene transmembrane protein 259 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1018406-1018625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1019009-1019608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9651 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:1025533-1026264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9652 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1028384-1028559 Neighboring gene RNA, U6 small nuclear 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1038259-1038760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1038761-1039260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1041153-1041950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9655 Neighboring gene ATP binding cassette subfamily A member 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1051115-1051279 Neighboring gene MPRA-validated peak3219 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1056183-1056682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1061566-1062329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1063170-1064022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1066609-1067115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13580 Neighboring gene Rho GTPase activating protein 45 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9661 Neighboring gene Sharpr-MPRA regulatory region 10458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13581 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1081390-1082265 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1085889-1086388 Neighboring gene RNA polymerase II, I and III subunit E

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Serum calponin 2 is a novel biomarker of tubal ectopic pregnancy. Zhang R, et al. Fertil Steril, 2021 Oct. PMID 34217487
  2. Lentivirus-mediated shRNA Targeting CNN2 Inhibits Hepatocarcinoma in Vitro and in Vivo. Kang X, et al. Int J Med Sci, 2018. PMID 29333089, Free PMC Article
  3. Knockdown of calponin 2 suppressed cell growth in gastric cancer cells. Hu J, et al. Tumour Biol, 2017 Jul. PMID 28714360
  4. Calponin-h2: a potential serum marker for the early detection of human breast cancer? Debald M, et al. Tumour Biol, 2014 Nov. PMID 25099617
  5. Increased fibroblast functionality on CNN2-loaded titania nanotubes. Wei H, et al. Int J Nanomedicine, 2012. PMID 22403489, Free PMC Article

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Calponin 2 regulates ketogenesis to mitigate acute kidney injury.
    Title: Calponin 2 regulates ketogenesis to mitigate acute kidney injury.
  2. Serum calponin 2 is a novel biomarker of tubal ectopic pregnancy.
    Title: Serum calponin 2 is a novel biomarker of tubal ectopic pregnancy.
  3. A rapid degradation of calponin 2 is required for cytokinesis.
    Title: A rapid degradation of calponin 2 is required for cytokinesis.
  4. Study in human hepatocellular carcinoma cell line and xenograft mouse model shows that CNN2 plays an important role in tumor growth and metastasis, possibly through MEK1/2-ERK1/2 signaling pathway.
    Title: Lentivirus-mediated shRNA Targeting CNN2 Inhibits Hepatocarcinoma in Vitro and in Vivo.
  5. our results demonstrated that knockdown of endogenous CNN2 in AGS cells could significantly activate cell apoptosis pathway and therefore suppress cell growth in vitro. The deletion of CNN2 might be a potential therapeutic approach to inhibit aggressive growth of gastric cancer.
    Title: Knockdown of calponin 2 suppressed cell growth in gastric cancer cells.
  6. High Calponin-h2 serum levels are associated with breast cancer.
    Title: Calponin-h2: a potential serum marker for the early detection of human breast cancer?
  7. h2-Calponin gene expression is further affected by the treatment of cells with Notch inhibitor and activator, suggesting an upstream signaling mechanism.
    Title: Mechanoregulation of h2-calponin gene expression and the role of Notch signaling.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding TAS
Traceable Author Statement
more info
 PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cadherin binding HDA PubMed 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actomyosin structure organization IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cellular response to mechanical stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cytoskeleton organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in hemopoiesis IEA
Inferred from Electronic Annotation
more info
  
involved_in macrophage migration IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of macrophage migration IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of phagocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in phagocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of actin filament-based process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of mononuclear cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in wound healing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell-cell junction TAS
Traceable Author Statement
more info
 PubMed 
located_in cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in focal adhesion HDA PubMed 
located_in membrane HDA PubMed 
located_in specific granule lumen TAS
Traceable Author Statement
more info
  
located_in stress fiber IDA
Inferred from Direct Assay
more info
 PubMed 
located_in tertiary granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001303499.2 → NP_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/TrEMBL
    B4DDF4, Q53GK7, Q6FHE4
    Related
    ENSP00000457968.1, ENST00000565096.6
    Conserved Domains (2) summary
    pfam00402
    Location:195 → 218
    Calponin; Calponin family repeat
    cl27700
    Location:19 → 179
    Calponin; Calponin family repeat

  2. NM_001303501.2 → NP_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/TrEMBL
    B4DUT8, Q53GK7, Q6FHE4
    Related
    ENSP00000456436.1, ENST00000562958.6
    Conserved Domains (2) summary
    pfam00402
    Location:227 → 250
    Calponin; Calponin family repeat
    cl27700
    Location:19 → 211
    Calponin; Calponin family repeat

  3. NM_004368.4 → NP_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
    A5D8U8, A6NFI4, D6W5X9, Q92578, Q99439
    UniProtKB/TrEMBL
    Q53GK7, Q6FHE4
    Related
    ENSP00000263097.2, ENST00000263097.9
    Conserved Domains (2) summary
    pfam00402
    Location:206 → 229
    Calponin; Calponin family repeat
    cl27700
    Location:19 → 190
    Calponin; Calponin family repeat

  4. NM_201277.3 → NP_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/TrEMBL
    Q53GK7
    Related
    ENSP00000340129.2, ENST00000348419.7
    Conserved Domains (2) summary
    cd00014
    Location:31 → 127
    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:167 → 190
    Calponin; Calponin family repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    989277..1001734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99439.4 GenPept UniProtKB/Swiss-Prot:Q99439

Gene LinkOut

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