• Gene id: 345651

Gene Summary

• Gene Symbol: ACTBL2   Gene   UCSC   Ensembl
• Aliases: ACT
• Gene name: actin beta like 2
• Alternate names: beta-actin-like protein 2, actin-like protein, kappa-actin,
• Gene location: 5q11.2 (57482810: 57480017)     Exons: 1     NC_000005.10
• OMIM: 610184

Protein Summary

• Protein general information: Q562R1  
  • Name: Beta actin like protein 2 (Kappa actin)
  • Length: 376  
  • Mass: 42003
• Sequence:

  MTDNELSALVVDNGSGMCKAGFGGDDAPRAVFPSMIGRPRHQGVMVGMGQKDCYVGDEAQSKRGVLTLKYPIEHG
  VVTNWDDMEKIWYHTFYNELRVAPDEHPILLTEAPLNPKINREKMTQIMFEAFNTPAMYVAIQAVLSLYASGRTT
  GIVMDSGDGVTHIVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYNFTTTAEREIVRDVKEKLCYVALDFE
  QEMVRAAASSSPERSYELPDGQVITIGNERFRCPEAIFQPSFLGIESSGIHETTFNSIMKCDVDIRKDLYANTVL
  SGGSTMYPGIADRMQKEIITLAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPPIVHRKC
  F

• Structural information:
  • Interpro: IPR004000  IPR020902  IPR004001  
  • Prosite: PS00406 PS00432 PS01132
  • STRING: ENSP00000416706
• Other Databases: GeneCards:  ACTBL2  Malacards:  ACTBL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098978	glutamatergic synapse	IBA	cellular component
GO:0005884	actin filament	IBA	cellular component
GO:0098973	structural constituent of postsynaptic actin cytoskeleton	IBA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0098974	postsynaptic actin cytoskeleton organization	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq