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Aliases for ITIH6 Gene

Aliases for ITIH6 Gene

  • Inter-Alpha-Trypsin Inhibitor Heavy Chain Family Member 6 2 3 5
  • Inter-Alpha-Trypsin Inhibitor Heavy Chain H5-Like Protein 3 4
  • Inter-Alpha Inhibitor H5-Like Protein 3 4
  • ITIH5L 3 4
  • Inter-Alpha-Trypsin Inhibitor Heavy Chain Family, Member 6 2
  • Inter-Alpha-Trypsin Inhibitor Heavy Chain H6 3
  • Inter-Alpha (Globulin) Inhibitor H5-Like 2
  • ITI-Like Protein 3
  • DJ14O9.1 3
  • UNQ6369 3

External Ids for ITIH6 Gene

Previous HGNC Symbols for ITIH6 Gene

  • ITIH5L

Summaries for ITIH6 Gene

Entrez Gene Summary for ITIH6 Gene

  • The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]

GeneCards Summary for ITIH6 Gene

ITIH6 (Inter-Alpha-Trypsin Inhibitor Heavy Chain Family Member 6) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is ITIH3.

Additional gene information for ITIH6 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITIH6 Gene

Genomics for ITIH6 Gene

GeneHancer (GH) Regulatory Elements for ITIH6 Gene

Promoters and enhancers for ITIH6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI054798 Promoter 0.5 EPDnew 550.8 0.0 -35 0.1 ITIH6 MAGED2
GH0XI054773 Enhancer 0.7 Ensembl ENCODE 0.3 +22.9 22870 4.4 ZNF449 GLIS1 WT1 RFX5 ZNF592 ZBTB20 TRO MAGED2 ITIH6 PGAM4P1
GH0XI054746 Enhancer 0.6 ENCODE 0.2 +50.5 50465 2.7 NCOA3 ZNF687 RFX1 NFIB NEUROD1 ZKSCAN1 FOXA1 CTBP1 GATA3 CREB1 ITIH6 PGAM4P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ITIH6 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ITIH6 Gene

Genomic Locations for ITIH6 Gene
49,342 bases
Minus strand

Genomic View for ITIH6 Gene

Genes around ITIH6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITIH6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITIH6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITIH6 Gene

Proteins for ITIH6 Gene

  • Protein details for ITIH6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Inter-alpha-trypsin inhibitor heavy chain H6
    Protein Accession:
    Secondary Accessions:
    • A6NN03

    Protein attributes for ITIH6 Gene

    1313 amino acids
    Molecular mass:
    143187 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ITIH6 Gene

Post-translational modifications for ITIH6 Gene

  • Glycosylation at posLast=8383, isoforms=374, posLast=540540, isoforms=594, isoforms=971, and posLast=12311231
  • Modification sites at PhosphoSitePlus

Other Protein References for ITIH6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITIH6 Gene

Domains & Families for ITIH6 Gene

Gene Families for ITIH6 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ITIH6 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ITIH family.
  • Belongs to the ITIH family.
genes like me logo Genes that share domains with ITIH6: view

Function for ITIH6 Gene

Phenotypes From GWAS Catalog for ITIH6 Gene

Gene Ontology (GO) - Molecular Function for ITIH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with ITIH6: view
genes like me logo Genes that share phenotypes with ITIH6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ITIH6 Gene

Localization for ITIH6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITIH6 Gene


Subcellular locations from

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 ITIH6 gene
Compartment Confidence
extracellular 4
plasma membrane 2
endoplasmic reticulum 2
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ITIH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with ITIH6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ITIH6 Gene

Pathways & Interactions for ITIH6 Gene

SuperPathways for ITIH6 Gene

No Data Available

Interacting Proteins for ITIH6 Gene

Gene Ontology (GO) - Biological Process for ITIH6 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 --
genes like me logo Genes that share ontologies with ITIH6: view

No data available for Pathways by source and SIGNOR curated interactions for ITIH6 Gene

Drugs & Compounds for ITIH6 Gene

No Compound Related Data Available

Transcripts for ITIH6 Gene

mRNA/cDNA for ITIH6 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ITIH6 Gene

Inter-alpha-trypsin inhibitor heavy chain family, member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITIH6 Gene

No ASD Table

Relevant External Links for ITIH6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ITIH6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITIH6 Gene

mRNA differential expression in normal tissues according to GTEx for ITIH6 Gene

This gene is overexpressed in Muscle - Skeletal (x34.2), Breast - Mammary Tissue (x6.3), and Prostate (x5.3).

Protein differential expression in normal tissues from HIPED for ITIH6 Gene

This gene is overexpressed in Cerebrospinal fluid (62.9) and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ITIH6 Gene

Protein tissue co-expression partners for ITIH6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ITIH6 Gene:


SOURCE GeneReport for Unigene cluster for ITIH6 Gene:

genes like me logo Genes that share expression patterns with ITIH6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITIH6 Gene

Orthologs for ITIH6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITIH6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ITIH5L 33
  • 99.44 (n)
ITIH6 34
  • 99 (a)
(Mus musculus)
Mammalia Itih5l-ps 33 16
  • 79.02 (n)
(Ornithorhynchus anatinus)
Mammalia ITIH6 34
  • 47 (a)
(Monodelphis domestica)
Mammalia ITIH6 34
  • 43 (a)
(Gallus gallus)
Aves ITIH6 33 34
  • 57.41 (n)
(Anolis carolinensis)
Reptilia ITIH6 34
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488634 33
  • 54.37 (n)
(Danio rerio)
Actinopterygii itih6 33 34
  • 52.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
-- 34
  • 25 (a)
-- 34
  • 22 (a)
Species where no ortholog for ITIH6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ITIH6 Gene

Gene Tree for ITIH6 (if available)
Gene Tree for ITIH6 (if available)

Paralogs for ITIH6 Gene

Paralogs for ITIH6 Gene

(2) SIMAP similar genes for ITIH6 Gene using alignment to 1 proteins: Pseudogenes for ITIH6 Gene

genes like me logo Genes that share paralogs with ITIH6: view

Variants for ITIH6 Gene

Sequence variations from dbSNP and Humsavar for ITIH6 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000070996 -- 54,786,902(-) G/A intron_variant
rs1000084327 -- 54,775,531(-) A/G intron_variant
rs1000237378 -- 54,754,943(-) C/T intron_variant
rs1000287836 -- 54,775,942(-) A/T intron_variant
rs1000444449 -- 54,795,998(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ITIH6 Gene

Variant ID Type Subtype PubMed ID
esv2740175 CNV deletion 23290073
nsv435891 CNV deletion 17901297

Variation tolerance for ITIH6 Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.48; 71.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITIH6 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITIH6 Gene

Disorders for ITIH6 Gene

Additional Disease Information for ITIH6

No disorders were found for ITIH6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ITIH6 Gene

Publications for ITIH6 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 58
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 4 58

Products for ITIH6 Gene

Sources for ITIH6 Gene

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