• Gene id: 433

Gene Summary

• Gene Symbol: ASGR2   Gene   UCSC   Ensembl
• Aliases: ASGP-R2, ASGPR2, CLEC4H2, HBXBP, HL-2
• Gene name: asialoglycoprotein receptor 2
• Alternate names: asialoglycoprotein receptor 2, C-type lectin domain family 4 member H2, HBxAg-binding protein, hepatic lectin H2,
• Gene location: 17p13.1 (73308866: 73302515)     Exons: 9     NC_000007.14
• Gene summary(Entrez): This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed term
• OMIM: 108361

Protein Summary

• Protein general information: P07307  
  • Name: Asialoglycoprotein receptor 2 (ASGP R 2) (ASGPR 2) (C type lectin domain family 4 member H2) (Hepatic lectin H2) (HL 2)
  • Length: 311  
  • Mass: 35092
  • Tissue specificity: Expressed exclusively in hepatic parenchymal cells.
• Sequence:

  MAKDFQDIQQLSSEENDHPFHQGEGPGTRRLNPRRGNPFLKGPPPAQPLAQRLCSMVCFSLLALSFNILLLVVIC
  VTGSQSEGHGGAQLQAELRSLKEAFSNFSSSTLTEVQAISTHGGSVGDKITSLGAKLEKQQQDLKADHDALLFHL
  KHFPVDLRFVACQMELLHSNGSQRTCCPVNWVEHQGSCYWFSHSGKAWAEAEKYCQLENAHLVVINSWEEQKFIV
  QHTNPFNTWIGLTDSDGSWKWVDGTDYRHNYKNWAVTQPDNWHGHELGGSEDCVEVQPDGRWNDDFCLQVYRWVC
  EKRRNATGEVA

• Structural information:
  • Protein Domains: (176..30-)
    (/note="C-type-lectin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00040"-)
  • Interpro: IPR001304  IPR016186  IPR018378  IPR033989  IPR016187  
  • Prosite: PS00615 PS50041
  • CDD: cd03590
  • STRING: ENSP00000347140
• Other Databases: GeneCards:  ASGR2  Malacards:  ASGR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0018279	protein N-linked glycosylation via asparagine	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009100	glycoprotein metabolic process	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0055088	lipid homeostasis	IEA	biological process
GO:0031647	regulation of protein stability	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	IDA	cellular component
GO:0004873	asialoglycoprotein receptor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04918	Thyroid hormone synthesis

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			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
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
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