Format

Send to:

Choose Destination

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

Gene ID: 3698, updated on 28-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (7703316..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 Functions

What'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 Updated 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)
Support Center