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Aliases for ITIH2 Gene

Aliases for ITIH2 Gene

  • Inter-Alpha-Trypsin Inhibitor Heavy Chain 2 2 3 5
  • Inter-Alpha-Trypsin Inhibitor Complex Component II 3 4
  • Inter-Alpha (Globulin) Inhibitor, H2 Polypeptide 2 3
  • Serum-Derived Hyaluronan-Associated Protein 3 4
  • Inter-Alpha-Inhibitor Heavy Chain 2 3 4
  • ITI Heavy Chain H2 3 4
  • ITI-HC2 3 4
  • SHAP 3 4
  • Inter-Alpha-Trypsin Inhibitor Heavy Chain H2 3
  • Inter-Alpha (Globulin) Inhibitor H2 3
  • IGHEP2 4
  • H2P 3

External Ids for ITIH2 Gene

Previous GeneCards Identifiers for ITIH2 Gene

  • GC10P007689
  • GC10P007895
  • GC10P007749
  • GC10P007785

Summaries for ITIH2 Gene

Entrez Gene Summary for ITIH2 Gene

  • 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]

GeneCards Summary for ITIH2 Gene

ITIH2 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 2) is a Protein Coding gene. Among its related pathways are Cell adhesion_Cell-matrix glycoconjugates. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity. An important paralog of this gene is ITIH3.

UniProtKB/Swiss-Prot for ITIH2 Gene

  • May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.

Gene Wiki entry for ITIH2 Gene

Additional gene information for ITIH2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITIH2 Gene

Genomics for ITIH2 Gene

Regulatory Elements for ITIH2 Gene

Enhancers for ITIH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H007796 0.9 Ensembl ENCODE 16.9 +94.7 94655 2.3 SMARCE1 JUN DPF2 FOSL1 JUND EGR1 SMARCA4 FOS ZBTB33 HOMEZ ITIH2 GC10M007790 PIR42243 GC10P007806
GH10H007794 0.8 ENCODE 13.6 +92.4 92352 1.8 FOXA2 ARID4B DMAP1 ZSCAN5C THAP11 SP5 MXD4 KAT8 MIER3 KLF16 ITIH2 GC10M007790 ATP5C1
GH10H007786 1 ENCODE 7 +85.5 85527 4.2 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 BRCA1 YY1 ZNF121 ATP5C1 KIN ITIH2 GC10M007790
GH10H007817 1.1 ENCODE 5.1 +115.4 115447 2.3 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ATP5C1 ITIH2 TAF3 GC10M007828
GH10H007549 0.2 dbSUPER 11.9 -153.2 -153225 1 ITIH2 ITIH5 GC10P007544 GC10P007578
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITIH2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ITIH2 Gene

Genomic Locations for ITIH2 Gene
chr10:7,703,269-7,749,520
(GRCh38/hg38)
Size:
46,252 bases
Orientation:
Plus strand
chr10:7,745,232-7,791,483
(GRCh37/hg19)

Genomic View for ITIH2 Gene

Genes around ITIH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITIH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITIH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITIH2 Gene

Proteins for ITIH2 Gene

  • Protein details for ITIH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19823-ITIH2_HUMAN
    Recommended name:
    Inter-alpha-trypsin inhibitor heavy chain H2
    Protein Accession:
    P19823
    Secondary Accessions:
    • Q14659
    • Q15484
    • Q5T986

    Protein attributes for ITIH2 Gene

    Size:
    946 amino acids
    Molecular mass:
    106463 Da
    Quaternary structure:
    • I-alpha-I plasma protease inhibitors are assembled from one or two heavy chains (H1, H2 or H3) and one light chain, bikunin. Inter-alpha-inhibitor (I-alpha-I) is composed of H1, H2 and bikunin, inter-alpha-like inhibitor (I-alpha-LI) of H2 and bikunin, and pre-alpha-inhibitor (P-alpha-I) of H3 and bikunin.
    SequenceCaution:
    • Sequence=CAA30160.1; Type=Frameshift; Positions=363, 373; Evidence={ECO:0000305};

neXtProt entry for ITIH2 Gene

Post-translational modifications for ITIH2 Gene

  • Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage.
  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at isoforms=96, posLast=118118, isoforms=445, isoforms=601, posLast=666666, posLast=673673, isoforms=675, and isoforms=691
  • Modification sites at PhosphoSitePlus

Other Protein References for ITIH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITIH2 Gene

Domains & Families for ITIH2 Gene

Gene Families for ITIH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P19823

UniProtKB/Swiss-Prot:

ITIH2_HUMAN :
  • Belongs to the ITIH family.
Family:
  • Belongs to the ITIH family.
genes like me logo Genes that share domains with ITIH2: view

Function for ITIH2 Gene

Molecular function for ITIH2 Gene

GENATLAS Biochemistry:
trypsin inhibitor,inter-alpha- (protein HC),heavy chain 2
UniProtKB/Swiss-Prot Function:
May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.

Phenotypes From GWAS Catalog for ITIH2 Gene

Gene Ontology (GO) - Molecular Function for ITIH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 2476436
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with ITIH2: view
genes like me logo Genes that share phenotypes with ITIH2: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ITIH2 Gene

Localization for ITIH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITIH2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITIH2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 2
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITIH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0070062 extracellular exosome IDA 20458337
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with ITIH2: view

Pathways & Interactions for ITIH2 Gene

genes like me logo Genes that share pathways with ITIH2: view

Pathways by source for ITIH2 Gene

1 GeneGo (Thomson Reuters) pathway for ITIH2 Gene

Gene Ontology (GO) - Biological Process for ITIH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0030212 hyaluronan metabolic process IEA --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with ITIH2: view

No data available for SIGNOR curated interactions for ITIH2 Gene

Drugs & Compounds for ITIH2 Gene

(2) Drugs for ITIH2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Target 188
Zinc Approved Pharma Target 2359
genes like me logo Genes that share compounds with ITIH2: view

Transcripts for ITIH2 Gene

Unigene Clusters for ITIH2 Gene

Inter-alpha-trypsin inhibitor heavy chain 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITIH2 Gene

No ASD Table

Relevant External Links for ITIH2 Gene

GeneLoc Exon Structure for
ITIH2
ECgene alternative splicing isoforms for
ITIH2

Expression for ITIH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITIH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITIH2 Gene

This gene is overexpressed in Liver (x50.2).

Protein differential expression in normal tissues from HIPED for ITIH2 Gene

This gene is overexpressed in Serum (27.4), Plasma (13.2), and Synovial fluid (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITIH2 Gene



Protein tissue co-expression partners for ITIH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITIH2 Gene:

ITIH2

SOURCE GeneReport for Unigene cluster for ITIH2 Gene:

Hs.75285

mRNA Expression by UniProt/SwissProt for ITIH2 Gene:

P19823-ITIH2_HUMAN
Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for ITIH2 Gene

  • Liver(4.9)
  • Bone marrow(4)
genes like me logo Genes that share expression patterns with ITIH2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ITIH2 Gene

Orthologs for ITIH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITIH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITIH2 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITIH2 33 34
  • 85.2 (n)
cow
(Bos Taurus)
Mammalia ITIH2 33 34
  • 85.13 (n)
mouse
(Mus musculus)
Mammalia Itih2 33 16 34
  • 82.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ITIH2 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITIH2 33 34
  • 68.97 (n)
lizard
(Anolis carolinensis)
Reptilia ITIH2 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itih2 33
  • 63.13 (n)
Str.15358 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5099 33
zebrafish
(Danio rerio)
Actinopterygii itih2 34
  • 52 (a)
OneToOne
Dr.852 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2708 33
Species where no ortholog for ITIH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ITIH2 Gene

ENSEMBL:
Gene Tree for ITIH2 (if available)
TreeFam:
Gene Tree for ITIH2 (if available)

Paralogs for ITIH2 Gene

Paralogs for ITIH2 Gene

(5) SIMAP similar genes for ITIH2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ITIH2: view

Variants for ITIH2 Gene

Sequence variations from dbSNP and Humsavar for ITIH2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000061762 -- 7,702,401(+) CTTCC(A/T)ATTTC upstream-variant-2KB
rs1000098543 -- 7,741,635(+) CTCCT(C/G)TGCAA intron-variant
rs1000176705 -- 7,719,455(+) TCCCG(C/T)GGTAA intron-variant
rs1000206468 -- 7,719,738(+) GCTGG(A/G)TGGCA intron-variant
rs1000230112 -- 7,723,449(+) TTTTC(A/C)GGTGT splice-acceptor-variant

Structural Variations from Database of Genomic Variants (DGV) for ITIH2 Gene

Variant ID Type Subtype PubMed ID
nsv957606 CNV deletion 24416366
nsv549933 CNV gain 21841781
nsv1069015 CNV deletion 25765185
nsv1038131 CNV gain 25217958
esv3891752 CNV gain 25118596
esv3622276 CNV loss 21293372
esv2732384 CNV deletion 23290073
esv2732373 CNV deletion 23290073
esv2670009 CNV deletion 23128226
esv2606150 CNV deletion 19546169
esv1652715 CNV deletion 17803354
esv1496692 CNV insertion 17803354

Variation tolerance for ITIH2 Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.01; 74.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITIH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITIH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITIH2 Gene

Disorders for ITIH2 Gene

Relevant External Links for ITIH2

Genetic Association Database (GAD)
ITIH2
Human Genome Epidemiology (HuGE) Navigator
ITIH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITIH2

No disorders were found for ITIH2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ITIH2 Gene

Publications for ITIH2 Gene

  1. A serum-derived hyaluronan-associated protein (SHAP) is the heavy chain of the inter alpha-trypsin inhibitor. (PMID: 7504674) Huang L … Kimata K (The Journal of biological chemistry 1993) 3 4 22 60
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 45 60
  3. SHAP potentiates the CD44-mediated leukocyte adhesion to the hyaluronan substratum. (PMID: 16702221) Zhuo L … Kimata K (The Journal of biological chemistry 2006) 3 22 60
  4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T … Smith RD (Journal of proteome research 2005) 3 4 60
  5. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PMID: 12754519) Zhang H … Aebersold R (Nature biotechnology 2003) 3 4 60

Products for ITIH2 Gene

Sources for ITIH2 Gene

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