• Gene id: 1265

Gene Summary

• Gene Symbol: CNN2   Gene   UCSC   Ensembl
• Gene name: calponin 2
• Alternate names: calponin-2, calponin H2, smooth muscle, neutral calponin,
• Gene location: 19p13.3 (1026607: 1039064)     Exons: 7     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 602373

SNPs

rs17167484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134371303T>G
NC_000005.9   g.133706994T>G
NG_042179.2   g.4745A>C
NG_046936.1   g.5128T>G
NM_003337.3   c.-293T>G
XM_017009544.2   c.-937A>C
XM_017009545.2   c.-742A>C
XM_024446086.1   c.-327A>C
XM_024446097.1   c.-729A>C
XM_024446096.1   c.-708A>C
XM_0  

Protein Summary

• Protein general information: Q99439  
  • Name: Calponin 2 (Calponin H2, smooth muscle) (Neutral calponin)
  • Length: 309  
  • Mass: 33697
  • Tissue specificity: Heart and smooth muscle.
• Sequence:

  MSSTQFNKGPSYGLSAEVKNRLLSKYDPQKEAELRTWIEGLTGLSIGPDFQKGLKDGTILCTLMNKLQPGSVPKI
  NRSMQNWHQLENLSNFIKAMVSYGMNPVDLFEANDLFESGNMTQVQVSLLALAGKAKTKGLQSGVDIGVKYSEKQ
  ERNFDDATMKAGQCVIGLQMGTNKCASQSGMTAYGTRRHLYDPKNHILPPMDHSTISLQMGTNKCASQVGMTAPG
  TRRHIYDTKLGTDKCDNSSMSLQMGYTQGANQSGQVFGLGRQIYDPKYCPQGTVADGAPSGTGDCPDPGEVPEYP
  PYYQEEAGY

• Structural information:
  • Protein Domains: (28..13-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001997  IPR000557  IPR001715  IPR036872  IPR003096  
  • Prosite: PS01052 PS51122 PS50021
  • CDD: cd00014
  • PDB: 1WYN
  • PDBsum: 1WYN
  • STRING: ENSP00000263097
• Other Databases: GeneCards:  CNN2  Malacards:  CNN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0031032	actomyosin structure organization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005911	cell-cell junction	TAS	cellular component
GO:0007010	cytoskeleton organization	TAS	biological process
GO:0071260	cellular response to mechanical stimulus	IDA	biological process
GO:0032970	regulation of actin filament-based process	IDA	biological process
GO:0001725	stress fiber	IDA	cellular component
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R