CNN2 Gene (Protein Coding)

Calponin 2

GC19P001026
GIFtS:
39
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. Alter... See more...

Aliases for CNN2 Gene

Aliases for CNN2 Gene

  • Calponin 2 2 3 5
  • Calponin H2, Smooth Muscle 3 4
  • Neutral Calponin 3 4
  • Calponin-2 3 4
  • CNN2 5

External Ids for CNN2 Gene

Previous GeneCards Identifiers for CNN2 Gene

  • GC19P001102
  • GC19P000966
  • GC19P000977
  • GC19P000799

Summaries for CNN2 Gene

Entrez Gene Summary for CNN2 Gene

  • 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]

GeneCards Summary for CNN2 Gene

CNN2 (Calponin 2) is a Protein Coding gene. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Innate Immune System. Gene Ontology (GO) annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is CNN3.

UniProtKB/Swiss-Prot Summary for CNN2 Gene

  • Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.

Additional gene information for CNN2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNN2 Gene

Genomics for CNN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CNN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNN2

Top Transcription factor binding sites by QIAGEN in the CNN2 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Brachyury
  • c-Myc
  • COMP1
  • Max1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for CNN2 Gene

Latest Assembly
chr19:1,026,586-1,039,068
(GRCh38/hg38)
Size:
12,483 bases
Orientation:
Plus strand

Previous Assembly
chr19:1,026,607-1,039,064
(GRCh37/hg19 by Entrez Gene)
Size:
12,458 bases
Orientation:
Plus strand

chr19:1,026,298-1,039,068
(GRCh37/hg19 by Ensembl)
Size:
12,771 bases
Orientation:
Plus strand

Genomic View for CNN2 Gene

Genes around CNN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNN2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CNN2 Gene

Proteins for CNN2 Gene

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  • Protein details for CNN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99439-CNN2_HUMAN
    Recommended name:
    Calponin-2
    Protein Accession:
    Q99439
    Secondary Accessions:
    • A5D8U8
    • A6NFI4
    • D6W5X9
    • Q92578

    Protein attributes for CNN2 Gene

    Size:
    309 amino acids
    Molecular mass:
    33697 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CNN2 Gene

    Alternative splice isoforms for CNN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNN2 Gene

Protein Expression for CNN2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CNN2 Gene

  • Ubiquitination at Lys8, Lys19, Lys25, Lys55, Lys160, and Lys174
  • Modification sites at PhosphoSitePlus

Other Protein References for CNN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNN2 Gene

Domains & Families for CNN2 Gene

Gene Families for CNN2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CNN2 Gene

InterPro:
Blocks:
  • Calponin-like actin-binding
  • Calponin signature
  • Calponin-like actin-binding subtype
ProtoNet:

Suggested Antigen Peptide Sequences for CNN2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ44427 fis, clone UTERU2007724, highly similar to Homo sapiens calponin 2 (CNN2), transcript variant 2, mRNA (A6NFI4_HUMAN)
  • Neutral calponin (CNN2_HUMAN)
  • CNN2 protein (Q6FHC3_HUMAN)
  • Calponin 2 (Q6FHE4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99439

UniProtKB/Swiss-Prot:

CNN2_HUMAN :
  • Belongs to the calponin family.
Family:
  • Belongs to the calponin family.
genes like me logo Genes that share domains with CNN2: view

Function for CNN2 Gene

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  1. Animal Models for research
  2. CRISPR products for research
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  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for CNN2 Gene

UniProtKB/Swiss-Prot Function:
Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.
GENATLAS Biochemistry:
calponin neutral,h2,cytoskeletal protein of smooth muscle cells,actin,calmodulin,tropomyosin binding,closely related to non-muscle calponin CNN3

Phenotypes From GWAS Catalog for CNN2 Gene

Gene Ontology (GO) - Molecular Function for CNN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA --
GO:0005516 calmodulin binding IEA --
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with CNN2: view
genes like me logo Genes that share phenotypes with CNN2: view

Animal Models for CNN2 Gene

MGI Knock Outs for CNN2:
  • Cnn2 Cnn2<tm1.2Jin>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNN2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CNN2 Gene

Localization for CNN2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNN2 gene
Compartment Confidence
cytoskeleton 5
extracellular 4
cytosol 4
nucleus 3
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 16236705
GO:0005576 extracellular region TAS --
GO:0005856 cytoskeleton IEA,TAS 8889829
GO:0005911 cell-cell junction TAS 8889829
GO:0005925 focal adhesion HDA 21423176
genes like me logo Genes that share ontologies with CNN2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CNN2 Gene

Pathways & Interactions for CNN2 Gene

genes like me logo Genes that share pathways with CNN2: view

Pathways by source for CNN2 Gene

1 BioSystems pathway for CNN2 Gene
3 Reactome pathways for CNN2 Gene

Gene Ontology (GO) - Biological Process for CNN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA,TAS 8889829
GO:0010628 positive regulation of gene expression IEA --
GO:0030097 hemopoiesis IEA --
GO:0030336 negative regulation of cell migration IEA --
GO:0031032 actomyosin structure organization IEA --
genes like me logo Genes that share ontologies with CNN2: view

No data available for SIGNOR curated interactions for CNN2 Gene

Drugs & Compounds for CNN2 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for CNN2 Gene

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mRNA/cDNA for CNN2 Gene

4 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNN2

Alternative Splicing Database (ASD) splice patterns (SP) for CNN2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b
SP1: - -
SP2: - - -
SP3: - - -
SP4: -
SP5: -

Relevant External Links for CNN2 Gene

GeneLoc Exon Structure for
CNN2

Expression for CNN2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNN2 Gene

mRNA expression in normal human tissues for CNN2 Gene
mRNA expression by GTEx for CNN2 GenemRNA expression by BioGPS for CNN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNN2 Gene

This gene is overexpressed in Whole Blood (x12.5).

Protein differential expression in normal tissues from HIPED for CNN2 Gene

This gene is overexpressed in Bone marrow stromal cell (8.8), Platelet (8.3), and Lymph node (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNN2 Gene



Protein tissue co-expression partners for CNN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNN2

SOURCE GeneReport for Unigene cluster for CNN2 Gene:

Hs.651512

mRNA Expression by UniProt/SwissProt for CNN2 Gene:

Q99439-CNN2_HUMAN
Tissue specificity: Heart and smooth muscle.

Evidence on tissue expression from TISSUES for CNN2 Gene

  • Blood(4.9)
  • Nervous system(4.5)
  • Heart(4.5)
  • Skin(4)
  • Lung(3.4)
  • Kidney(3.3)
  • Intestine(2.9)
  • Spleen(2.5)
  • Muscle(2.5)
  • Liver(2.4)
  • Bone marrow(2.3)
  • Eye(2.3)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with CNN2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CNN2 Gene

Orthologs for CNN2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CNN2 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia CNN2 30 31
  • 91.15 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cnn2 30
  • 90 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CNN2 31
  • 90 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CNN2 30 31
  • 89 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cnn2 30 17 31
  • 88.85 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CNN2 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CNN2 30 31
  • 80.7 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cnn1 30
  • 73.12 (n)
Str.6304 30
African clawed frog
(Xenopus laevis)
 Amphibia cnn2-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii cnn2 30 31
  • 68.28 (n)
 OneToOne
Dr.28235 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Mp20 30 31
  • 51.89 (n)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP012304 30
  • 51.41 (n)
Worm
(Caenorhabditis elegans)
 Secernentea cpn-2 31
  • 35 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SCP1 31
  • 27 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7148 31
  • 40 (a)
 OneToMany
Species where no ortholog for CNN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CNN2 Gene

ENSEMBL:
Gene Tree for CNN2 (if available)
TreeFam:
Gene Tree for CNN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNN2: view image

Paralogs for CNN2 Gene

Paralogs for CNN2 Gene

(26) SIMAP similar genes for CNN2 Gene using alignment to 9 proteins:

  • CNN2_HUMAN
  • B4DDF4_HUMAN
  • B4DUT8_HUMAN
  • H3BQH0_HUMAN
  • H3BVI6_HUMAN
  • K7ES69_HUMAN
  • Q6FHC3_HUMAN
  • Q6FHE4_HUMAN
  • U3KPS3_HUMAN

Pseudogenes.org Pseudogenes for CNN2 Gene

genes like me logo Genes that share paralogs with CNN2: view

Variants for CNN2 Gene

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dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CNN2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CNN2 Gene

Variant ID Type Subtype PubMed ID
dgv135n111 CNV deletion 26073780
dgv136n111 CNV deletion 26073780
dgv486e201 CNV deletion 23290073
dgv487e201 CNV deletion 23290073
esv1006717 CNV loss 20482838
esv1680853 CNV deletion 17803354
esv2044506 CNV deletion 18987734
esv22453 CNV loss 19812545
esv2492823 CNV deletion 19546169
esv25790 CNV loss 19812545
esv2586842 CNV deletion 19546169
esv2677837 CNV deletion 23128226
esv2758743 CNV gain+loss 17122850
esv3102679 CNV deletion 24192839
esv3643383 CNV gain 21293372
nsv1143894 CNV deletion 24896259
nsv1160555 CNV deletion 26073780
nsv469845 CNV loss 16826518
nsv512556 CNV loss 21212237
nsv578188 CNV loss 21841781
nsv833704 CNV gain 17160897
nsv953938 CNV deletion 24416366
nsv960770 CNV duplication 23825009
nsv9662 CNV gain 18304495

Variation tolerance for CNN2 Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNN2 Gene

Human Gene Mutation Database (HGMD)
CNN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNN2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNN2 Gene

Disorders for CNN2 Gene

Additional Disease Information for CNN2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for CNN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CNN2 Gene

Publications for CNN2 Gene

  1. Molecular cloning and characterization of human non-smooth muscle calponin. (PMID: 8889829) Masuda H … Takahashi K (Journal of biochemistry 1996) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K … Vandekerckhove J (Nature biotechnology 2003) 3 4
  4. A unique downregulation of h2-calponin gene expression in Down syndrome: a possible attenuation mechanism for fetal survival by methylation at the CpG island in the trisomic chromosome 21. (PMID: 9001224) Kuromitsu J … Hayashizaki Y (Molecular and cellular biology 1997) 3 4
  5. BioID Performed on Golgi Enriched Fractions Identify C10orf76 as a GBF1 Binding Protein Essential for Golgi Maintenance and Secretion. (PMID: 31519766) Chan CJ … Melançon P (Molecular & cellular proteomics : MCP 2019) 3

ExternalLinks

View latest publications for CNN2 gene in Mastermind

Products for CNN2 Gene

Sources for CNN2 Gene