• Gene id: 118429

Gene Summary

• Gene Symbol: ANTXR2   Gene   UCSC   Ensembl
• Aliases: CMG-2, CMG2, HFS, ISH, JHF
• Gene name: ANTXR cell adhesion molecule 2
• Alternate names: anthrax toxin receptor 2, capillary morphogenesis gene 2 protein, capillary morphogenesis protein 2,
• Gene location: 4q21.21 (6706946: 6688432)     Exons: 5     NC_000007.14
• Gene summary(Entrez): This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
• OMIM: 608041

Protein Summary

• Protein general information: P58335  
  • Name: Anthrax toxin receptor 2 (Capillary morphogenesis gene 2 protein) (CMG 2)
  • Length: 489  
  • Mass: 53666
  • Tissue specificity: Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen. {ECO
• Sequence:

  MVAERSPARSPGSWLFPGLWLLVLSGPGGLLRAQEQPSCRRAFDLYFVLDKSGSVANNWIEIYNFVQQLAERFVS
  PEMRLSFIVFSSQATIILPLTGDRGKISKGLEDLKRVSPVGETYIHEGLKLANEQIQKAGGLKTSSIIIALTDGK
  LDGLVPSYAEKEAKISRSLGASVYCVGVLDFEQAQLERIADSKEQVFPVKGGFQALKGIINSILAQSCTEILELQ
  PSSVCVGEEFQIVLSGRGFMLGSRNGSVLCTYTVNETYTTSVKPVSVQLNSMLCPAPILNKAGETLDVSVSFNGG
  KSVISGSLIVTATECSNGIAAIIVILVLLLLLGIGLMWWFWPLCCKVVIKDPPPPPAPAPKEEEEEPLPTKKWPT
  VDASYYGGRGVGGIKRMEVRWGDKGSTEEGARLEKAKNAVVKIPEETEEPIRPRPPRPKPTHQPPQTKWYTPIKG
  RLDALWALLRRQYDRVSLMRPQEGDEVCIWECIEKELTA

• Structural information:
  • Protein Domains: (44..21-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR017360  IPR008399  IPR008400  IPR002035  IPR036465  
  • Prosite: PS50234
  • PDB: 1SHT 1SHU 1T6B 1TZN
  • PDBsum: 1SHT 1SHU 1T6B 1TZN
  • DIP: 32476
  • STRING: ENSP00000306185
• Other Databases: GeneCards:  ANTXR2  Malacards:  ANTXR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901998	toxin transport	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0004888	transmembrane signaling receptor activity	IBA	molecular function
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0022414	reproductive process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:1901998	toxin transport	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Hyaline fibromatosis syndrome	KEGG:H00614
Hyaline fibromatosis syndrome	KEGG:H00614
fibroma	PMID:14508707
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq