• Gene id: 10483

Gene Summary

• Gene Symbol: SEC23B   Gene   UCSC   Ensembl
• Aliases: CDA-II, CDAII, CDAN2, CWS7, HEMPAS, hSec23B
• Gene name: SEC23 homolog B, COPII coat complex component
• Alternate names: protein transport protein Sec23B, SEC23 homolog B, coat complex II component, SEC23-like protein B, SEC23-related protein B, transport protein SEC23B,
• Gene location: 20p11.23 (105037468: 105099959)     Exons: 12     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible f
• OMIM: 610512

Protein Summary

• Protein general information: Q15437  
  • Name: Protein transport protein Sec23B (hSec23B) (SEC23 related protein B)
  • Length: 767  
  • Mass: 86479
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MATYLEFIQQNEERDGVRFSWNVWPSSRLEATRMVVPLACLLTPLKERPDLPPVQYEPVLCSRPTCKAVLNPLCQ
  VDYRAKLWACNFCFQRNQFPPAYGGISEVNQPAELMPQFSTIEYVIQRGAQSPLIFLYVVDTCLEEDDLQALKES
  LQMSLSLLPPDALVGLITFGRMVQVHELSCEGISKSYVFRGTKDLTAKQIQDMLGLTKPAMPMQQARPAQPQEHP
  FASSRFLQPVHKIDMNLTDLLGELQRDPWPVTQGKRPLRSTGVALSIAVGLLEGTFPNTGARIMLFTGGPPTQGP
  GMVVGDELKIPIRSWHDIEKDNARFMKKATKHYEMLANRTAANGHCIDIYACALDQTGLLEMKCCANLTGGYMVM
  GDSFNTSLFKQTFQRIFTKDFNGDFRMAFGATLDVKTSRELKIAGAIGPCVSLNVKGPCVSENELGVGGTSQWKI
  CGLDPTSTLGIYFEVVNQHNTPIPQGGRGAIQFVTHYQHSSTQRRIRVTTIARNWADVQSQLRHIEAAFDQEAAA
  VLMARLGVFRAESEEGPDVLRWLDRQLIRLCQKFGQYNKEDPTSFRLSDSFSLYPQFMFHLRRSPFLQVFNNSPD
  ESSYYRHHFARQDLTQSLIMIQPILYSYSFHGPPEPVLLDSSSILADRILLMDTFFQIVIYLGETIAQWRKAGYQ
  DMPEYENFKHLLQAPLDDAQEILQARFPMPRYINTEHGGSQARFLLSKVNPSQTHNNLYAWGQETGAPILTDDVS
  LQVFMDHLKKLAVSSAC

• Structural information:
  • Interpro: IPR029006  IPR007123  IPR036180  IPR037364  IPR006900   IPR036175  IPR006896  IPR012990  IPR037550  IPR036465  IPR006895  IPR036174  
  • CDD: cd11287
  • STRING: ENSP00000338844
• Other Databases: GeneCards:  SEC23B  Malacards:  SEC23B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090110	COPII-coated vesicle cargo loading	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0030127	COPII vesicle coat	IBA	cellular component
GO:0070971	endoplasmic reticulum exit site	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0090114	COPII-coated vesicle budding	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IEA	biological process
GO:0030127	COPII vesicle coat	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0012505	endomembrane system	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Congenital dyserythropoietic anemias	KEGG:H00917
Cowden syndrome	KEGG:H01222
Congenital dyserythropoietic anemias	KEGG:H00917
Cowden syndrome	KEGG:H01222
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 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			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R