• Gene id: 29780

Gene Summary

• Gene Symbol: PARVB   Gene   UCSC   Ensembl
• Aliases: CGI-56
• Gene name: parvin beta
• Alternate names: beta-parvin, affixin,
• Gene location: 22q13.31 (43999163: 44172938)     Exons: 19     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filamen
• OMIM: 608121

Protein Summary

• Protein general information: Q9HBI1  
  • Name: Beta parvin (Affixin)
  • Length: 364  
  • Mass: 41714
  • Tissue specificity: Expressed predominantly in heart and skeletal muscle. {ECO
• Sequence:

  MSSAPRSPTPRPRRMKKDESFLGKLGGTLARKRRAREVSDLQEEGKNAINSPMSPALVDVHPEDTQLEENEERTM
  IDPTSKEDPKFKELVKVLLDWINDVLVEERIIVKQLEEDLYDGQVLQKLLEKLAGCKLNVAEVTQSEIGQKQKLQ
  TVLEAVHDLLRPRGWALRWSVDSIHGKNLVAILHLLVSLAMHFRAPIRLPEHVTVQVVVVRKREGLLHSSHISEE
  LTTTTEMMMGRFERDAFDTLFDHAPDKLSVVKKSLITFVNKHLNKLNLEVTELETQFADGVYLVLLMGLLEDYFV
  PLHHFYLTPESFDQKVHNVSFAFELMLDGGLKKPKARPEDVVNLDLKSTLRVLYNLFTKYKNVE

• Structural information:
  • Protein Domains: (87..19-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (254..36-)
    2 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001715  IPR036872  IPR028433  
  • Prosite: PS50021
  • PDB: 4EDL 4EDM 4EDN
  • PDBsum: 4EDL 4EDM 4EDN
  • STRING: ENSP00000384515
• Other Databases: GeneCards:  PARVB  Malacards:  PARVB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030032	lamellipodium assembly	IBA	biological process
GO:0030031	cell projection assembly	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0003779	actin binding	IBA	molecular function
GO:0034446	substrate adhesion-dependent cell spreading	IBA	biological process
GO:0031532	actin cytoskeleton reorganization	IBA	biological process
GO:0030027	lamellipodium	IBA	cellular component
GO:0007163	establishment or maintenance of cell polarity	IBA	biological process
GO:0005925	focal adhesion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0071963	establishment or maintenance of cell polarity regulating cell shape	IMP	biological process
GO:0030032	lamellipodium assembly	IMP	biological process
GO:0030031	cell projection assembly	IMP	biological process
GO:0031532	actin cytoskeleton reorganization	IMP	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0031532	actin cytoskeleton reorganization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030018	Z disc	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04510	Focal adhesion

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq