• Gene id: 3698

Gene Summary

• Gene Symbol: ITIH2   Gene   UCSC   Ensembl
• Aliases: H2P, SHAP
• Gene name: inter-alpha-trypsin inhibitor heavy chain 2
• Alternate names: inter-alpha-trypsin inhibitor heavy chain H2, ITI heavy chain H2, ITI-HC2, inter-alpha (globulin) inhibitor H2, inter-alpha (globulin) inhibitor, H2 polypeptide, inter-alpha-inhibitor heavy chain 2, inter-alpha-trypsin inhibitor complex component II, serum-deriv,
• Gene location: 10p14 (7703315: 7749519)     Exons: 21     NC_000010.11
• Gene summary(Entrez): The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a li
• OMIM: 146640

SNPs

rs7969759

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.67435923G>A
NC_000012.11   g.67829703G>A|SEQ=[G/A]|GENE=LOC105369812

Protein Summary

• Protein general information: P19823  
  • Name: Inter alpha trypsin inhibitor heavy chain H2 (ITI heavy chain H2) (ITI HC2) (Inter alpha inhibitor heavy chain 2) (Inter alpha trypsin inhibitor complex component II) (Serum derived hyaluronan associated protein) (SHAP)
  • Length: 946  
  • Mass: 106463
  • Tissue specificity: Plasma.
• Sequence:

  MKRLTCFFICFFLSEVSGFEIPINGLSEFVDYEDLVELAPGKFQLVAENRRYQRSLPGESEEMMEEVDQVTLYSY
  KVQSTITSRMATTMIQSKVVNNSPQPQNVVFDVQIPKGAFISNFSMTVDGKTFRSSIKEKTVGRALYAQARAKGK
  TAGLVRSSALDMENFRTEVNVLPGAKVQFELHYQEVKWRKLGSYEHRIYLQPGRLAKHLEVDVWVIEPQGLRFLH
  VPDTFEGHFDGVPVISKGQQKAHVSFKPTVAQQRICPNCRETAVDGELVVLYDVKREEKAGELEVFNGYFVHFFA
  PDNLDPIPKNILFVIDVSGSMWGVKMKQTVEAMKTILDDLRAEDHFSVIDFNQNIRTWRNDLISATKTQVADAKR
  YIEKIQPSGGTNINEALLRAIFILNEANNLGLLDPNSVSLIILVSDGDPTVGELKLSKIQKNVKENIQDNISLFS
  LGMGFDVDYDFLKRLSNENHGIAQRIYGNQDTSSQLKKFYNQVSTPLLRNVQFNYPHTSVTDVTQNNFHNYFGGS
  EIVVAGKFDPAKLDQIESVITATSANTQLVLETLAQMDDLQDFLSKDKHADPDFTRKLWAYLTINQLLAERSLAP
  TAAAKRRITRSILQMSLDHHIVTPLTSLVIENEAGDERMLADAPPQDPSCCSGALYYGSKVVPDSTPSWANPSPT
  PVISMLAQGSQVLESTPPPHVMRVENDPHFIIYLPKSQKNICFNIDSEPGKILNLVSDPESGIVVNGQLVGAKKP
  NNGKLSTYFGKLGFYFQSEDIKIEISTETITLSHGSSTFSLSWSDTAQVTNQRVQISVKKEKVVTITLDKEMSFS
  VLLHRVWKKHPVNVDFLGIYIPPTNKFSPKAHGLIGQFMQEPKIHIFNERPGKDPEKPEASMEVKGQKLIITRGL
  QKDYRTDLVFGTDVTCWFVHNSGKGFIDGHYKDYFVPQLYSFLKRP

• Structural information:
  • Protein Domains: (56..18-)
    (/note="VIT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00801-)
    (308..46-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR010600  IPR013694  IPR002035  IPR036465  
  • Prosite: PS51468 PS50234
  • STRING: ENSP00000351190
• Other Databases: GeneCards:  ITIH2  Malacards:  ITIH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030212	hyaluronan metabolic process	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004866	endopeptidase inhibitor activity	TAS	molecular function
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0005576	extracellular region	IEA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0005576	extracellular region	NAS	cellular component

Diseases

Associated diseases	References
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)