CNN2 calponin 2 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (1026608..1039065)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (989277..1001734)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (1026607..1039064)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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 2 regulates ketogenesis to mitigate acute kidney injury.
Title: Calponin 2 regulates ketogenesis to mitigate acute kidney injury.
Serum calponin 2 is a novel biomarker of tubal ectopic pregnancy.
Title: Serum calponin 2 is a novel biomarker of tubal ectopic pregnancy.
A rapid degradation of calponin 2 is required for cytokinesis.
Title: A rapid degradation of calponin 2 is required for cytokinesis.
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.
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.
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?
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

NoName (e-PCR)
- UniSTS:489765

D8S2279 (e-PCR)
- UniSTS:473907

REU1927 (e-PCR)
- UniSTS:257091

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

RH70510 (e-PCR)
- UniSTS:10876

D11S3114 (e-PCR)
- UniSTS:152207

CNN2_8268 (e-PCR)
- UniSTS:467613

GDB:335751 (e-PCR)
- UniSTS:156601

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 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
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 more info	PubMed
located_in membrane	HDA more info	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)

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
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
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
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