• Gene id: 145501

Gene Summary

• Gene Symbol: ISM2   Gene   UCSC   Ensembl
• Aliases: TAIL1, THSD3
• Gene name: isthmin 2
• Alternate names: isthmin-2, isthmin 2 homolog, thrombospondin and AMOP containing isthmin-like 1, thrombospondin and AMOP domain-containing isthmin-like protein 1, thrombospondin type-1 domain-containing protein 3, thrombospondin, type I, domain containing 3,
• Gene location: 14q24.3 (77498815: 77474393)     Exons: 8     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript varian
• OMIM: 615585

Protein Summary

• Protein general information: Q6H9L7  
  • Name: Isthmin 2 (Thrombospondin and AMOP domain containing isthmin like protein 1) (Thrombospondin type 1 domain containing protein 3)
  • Length: 571  
  • Mass: 63906
  • Tissue specificity: Expressed at high levels in the placenta and at moderate levels in the pancreas, kidney, heart, liver, lung, brain and skeletal muscle. {ECO
• Sequence:

  MRALRDRAGLLLCVLLLAALLEAALGLPVKKPRLRGPRPGSLTRLAEVSASPDPRPLKEEEEAPLLPRTHLQAEP
  HQHGCWTVTEPAAMTPGNATPPRTPEVTPLRLELQKLPGLANTTLSTPNPDTQASASPDPRPLREEEEARLLPRT
  HLQAELHQHGCWTVTEPAALTPGNATPPRTQEVTPLLLELQKLPELVHATLSTPNPDNQVTIKVVEDPQAEVSID
  LLAEPSNPPPQDTLSWLPALWSFLWGDYKGEEKDRAPGEKGEEKEEDEDYPSEDIEGEDQEDKEEDEEEQALWFN
  GTTDNWDQGWLAPGDWVFKDSVSYDYEPQKEWSPWSPCSGNCSTGKQQRTRPCGYGCTATETRTCDLPSCPGTED
  KDTLGLPSEEWKLLARNATDMHDQDVDSCEKWLNCKSDFLIKYLSQMLRDLPSCPCAYPLEAMDSPVSLQDEHQG
  RSFRWRDASGPRERLDIYQPTARFCLRSMLSGESSTLAAQHCCYDEDSRLLTRGKGAGMPNLISTDFSPKLHFKF
  DTTPWILCKGDWSRLHAVLPPNNGRACTDNPLEEEYLAQLQEAKEY

• Structural information:
  • Protein Domains: (327..37-)
    (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (396..55-)
    (/note="AMOP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00347"-)
  • Interpro: IPR005533  IPR042413  IPR000884  IPR036383  
  • Prosite: PS50856 PS50092
  • STRING: ENSP00000341490
• Other Databases: GeneCards:  ISM2  Malacards:  ISM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray