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    ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 [ Homo sapiens (human) ]

    Gene ID: 3698, updated on 15-Jun-2019

    Summary

    Official Symbol
    ITIH2provided by HGNC
    Official Full Name
    inter-alpha-trypsin inhibitor heavy chain 2provided by HGNC
    Primary source
    HGNC:HGNC:6167
    See related
    Ensembl:ENSG00000151655 MIM:146640
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    H2P; SHAP
    Summary
    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 light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]
    Expression
    Restricted expression toward liver (RPKM 486.6) See more
    Orthologs

    Genomic context

    See ITIH2 in Genome Data Viewer
    Location:
    10p14
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (7703273..7749520)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (7745236..7791483)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene inter-alpha-trypsin inhibitor heavy chain 5 Neighboring gene Sharpr-MPRA regulatory region 2566 Neighboring gene Kin17 DNA and RNA binding protein Neighboring gene uncharacterized LOC105376392 Neighboring gene ATP synthase F1 subunit gamma

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    General protein information

    Preferred Names
    inter-alpha-trypsin inhibitor heavy chain H2
    Names
    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-derived hyaluronan-associated protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002216.3NP_002207.2  inter-alpha-trypsin inhibitor heavy chain H2 precursor

      See identical proteins and their annotated locations for NP_002207.2

      Status: VALIDATED

      Source sequence(s)
      AA406494, AL158044, BG617651, CB154170, X07173
      Consensus CDS
      CCDS31141.1
      UniProtKB/Swiss-Prot
      P19823
      Related
      ENSP00000351190.4, ENST00000358415.9
      Conserved Domains (4) summary
      smart00609
      Location:56185
      VIT; Vault protein Inter-alpha-Trypsin domain
      cd01461
      Location:307488
      vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
      TIGR03788
      Location:80629
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam06668
      Location:736921
      ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      7703316..7749520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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