CNN3 calponin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CNN3provided by HGNC
Official Full Name: calponin 3provided by HGNC
Primary source: HGNC:HGNC:2157
See related: Ensembl:ENSG00000117519 MIM:602374; AllianceGenome:HGNC:2157
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 52.9), placenta (RPKM 49.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p21.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (94896957..94927110, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (94745314..94775463, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (95362513..95392666, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Calponin 3 Acts as a Potential Diagnostic and Prognostic Marker and Promotes Glioma Cell Proliferation, Migration, and Invasion.
Title: Calponin 3 Acts as a Potential Diagnostic and Prognostic Marker and Promotes Glioma Cell Proliferation, Migration, and Invasion.
Calponin 3 is associated with poor prognosis and regulates proliferation and metastasis in osteosarcoma.
Title: Calponin 3 is associated with poor prognosis and regulates proliferation and metastasis in osteosarcoma.
CNN3 acts as a potential oncogene in cervical cancer by affecting RPLP1 mRNA expression.
Title: CNN3 acts as a potential oncogene in cervical cancer by affecting RPLP1 mRNA expression.
Cnn3 depletion resulted in increased and uncoordinated contractility of stress fibers that often led to breakage of individual actomyosin bundles within the stress fiber network.
Title: Calponin-3 is critical for coordinated contractility of actin stress fibers.
These results reveal the importance of the MEKK1-calponin-3 signaling pathway to cell contractility.
Title: MEKK1-dependent phosphorylation of calponin-3 tunes cell contractility.
overexpressed CNN3 during sonic vibration increases expression of glutamate receptors and promotes functional neural differentiation of human umbilical cords-mesenchymal stem cells.
Title: Overexpressed Calponin3 by Subsonic Vibration Induces Neural Differentiation of hUC-MSCs by Regulating the Ionotropic Glutamate Receptor.
CNN3 as a new pro-invasive protein in trophoblast cells that is induced under low oxygen conditions.
Title: CNN3 regulates trophoblast invasion and is upregulated by hypoxia in BeWo cells.
Participates in actin stress fiber remodeling
Title: Calponin 3 regulates stress fiber formation in dermal fibroblasts during wound healing.
The mRNA and protein level of calponin-3 were increase expression in brain in patiens with epilepsy.
Title: Increased expression of calponin-3 in epileptic patients and experimental rats.
Results indicate that CNN3 regulates actin cytoskeleton rearrangement which is required for the plasma membranes of trophoblasts to become fusion competent.
Title: Calponin 3 regulates actin cytoskeleton rearrangement in trophoblastic cell fusion.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-75190 (e-PCR)
- UniSTS:10054

SHGC-75189 (e-PCR)
- UniSTS:60999

SHGC-75183 (e-PCR)
- UniSTS:17372

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding involved in cell-cell adhesion	HDA more info	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
involved_in cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
located_in adherens junction	HDA more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in focal adhesion	HDA more info	PubMed

General protein information

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Preferred Names: calponin-3

Names: calponin 3, acidic; dJ639P13.2.2 (acidic calponin 3)

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)

NM_001286055.2 → NP_001272984.1 calponin-3 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC093429, AC105942, AK298145

Consensus CDS

CCDS65593.1

UniProtKB/Swiss-Prot

Q15417

Related

ENSP00000377752.4, ENST00000394202.8

Conserved Domains (3) summary

COG5199
Location:16 → 182

SCP1; Calponin [Cytoskeleton]

cd00014
Location:28 → 79

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:118 → 141

Calponin; Calponin family repeat
NM_001286056.2 → NP_001272985.1 calponin-3 isoform 3

See identical proteins and their annotated locations for NP_001272985.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks a portion of the 5' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC093429, AK316398

Consensus CDS

CCDS65592.1

UniProtKB/Swiss-Prot

Q15417

Related

ENSP00000440081.1, ENST00000545882.5

Conserved Domains (2) summary

pfam00307
Location:6 → 84

CH; Calponin homology (CH) domain

pfam00402
Location:123 → 146

Calponin; Calponin family repeat
NM_001839.5 → NP_001830.1 calponin-3 isoform 1

See identical proteins and their annotated locations for NP_001830.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC093429, AC105942, AK312370

Consensus CDS

CCDS30775.1

UniProtKB/Swiss-Prot

B4DFK6, B4DP09, F8WA86, Q15417, Q6FHA7

Related

ENSP00000359225.4, ENST00000370206.9

Conserved Domains (2) summary

pfam00402
Location:243 → 266

Calponin; Calponin family repeat

cl27700
Location:16 → 188

Calponin; Calponin family repeat