• Gene id: 55176

Gene Summary

• Gene Symbol: SEC61A2   Gene   UCSC   Ensembl
• Gene name: SEC61 translocon subunit alpha 2
• Alternate names: protein transport protein Sec61 subunit alpha isoform 2, SEC61 translocon alpha 2 subunit, Sec61 alpha 2 subunit, Sec61 alpha form 2, protein transport protein Sec61 subunit alpha, sec61 alpha-2,
• Gene location: 10p14 (12129640: 12169957)     Exons: 15     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. A
• OMIM: 618271

Protein Summary

• Protein general information: Q9H9S3  
  • Name: Protein transport protein Sec61 subunit alpha isoform 2 (Sec61 alpha 2)
  • Length: 476  
  • Mass: 52248
• Sequence:

  MGIKFLEVIKPFCAVLPEIQKPERKIQFREKVLWTAITLFIFLVCCQIPLFGIMSSDSADPFYWMRVILASNRGT
  LMELGISPIVTSGLIMQLLAGAKIIEVGDTPKDRALFNGAQKLFGMIITIGQAIVYVMTGMYGDPAEMGAGICLL
  IIIQLFVAGLIVLLLDELLQKGYGLGSGISLFIATNICETIVWKAFSPTTINTGRGTEFEGAVIALFHLLATRTD
  KVRALREAFYRQNLPNLMNLIATVFVFAVVIYFQGFRVDLPIKSARYRGQYSSYPIKLFYTSNIPIILQSALVSN
  LYVISQMLSVRFSGNFLVNLLGQWADVSGGGPARSYPVGGLCYYLSPPESMGAIFEDPVHVVVYIIFMLGSCAFF
  SKTWIEVSGSSAKDVAKQLKEQQMVMRGHRDTSMVHELNRYIPTAAAFGGLCIGALSVLADFLGAIGSGTGILLA
  VTIIYQYFEIFVKEQAEVGGMGALFF

• Structural information:
  • Interpro: IPR002208  IPR030659  IPR023201  IPR019561  
  • Prosite: PS00755 PS00756
  • STRING: ENSP00000298428
• Other Databases: GeneCards:  SEC61A2  Malacards:  SEC61A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043022	ribosome binding	IBA	molecular function
GO:0031204	posttranslational protein targeting to membrane, translocation	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005784	Sec61 translocon complex	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005048	signal sequence binding	IBA	molecular function
GO:0008320	protein transmembrane transporter activity	IBA	molecular function
GO:0006616	SRP-dependent cotranslational protein targeting to membrane, translocation	IBA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043022	ribosome binding	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum
hsa04145	Phagosome
hsa05110	Vibrio cholerae infection
hsa03060	Protein export

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray