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ITIH4 Gene

protein-coding   GIFtS: 55
GCID: GC03M052846

Inter-Alpha-Trypsin Inhibitor Heavy Chain Family, Member...

(Previous name: inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive...)
(Previous symbol: ITIHL1)
  See ITIH4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Inter-Alpha-Trypsin Inhibitor Heavy Chain Family, Member 41 2     ITI Heavy Chain H42 3
ITIHL11 2 3 5     Plasma Kallikrein-Sensitive Glycoprotein1
PK1202 3 5     GP1202
Inter-Alpha (Globulin) Inhibitor H4 (Plasma Kallikrein-Sensitive
Glycoprotein)1 2
     H4P2
Inter-Alpha-Inhibitor Heavy Chain 42 3     Inter-Alpha-Trypsin Inhibitor Heavy Chain H42
Inter-Alpha-Trypsin Inhibitor Family Heavy Chain-Related Protein2 3     Inter-Alpha-Trypsin Inhibitor, Heavy Chain-Like, 12
IHRP2 3     Plasma Kallikrein-Sensitive Glycoprotein 1202
ITI-HC42 3     Gp1203
PK-1202 3     Plasma Kallikrein Sensitive Glycoprotein 1203

External Ids:    HGNC: 61691   Entrez Gene: 37002   Ensembl: ENSG000000559557   OMIM: 6005645   UniProtKB: Q146243   

Export aliases for ITIH4 gene to outside databases

Previous GC identifers: GC03M051939 GC03M052098 GC03M052701 GC03M052804 GC03M052822


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ITIH4 Gene:
The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two
smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during
surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Oct 2009)

GeneCards Summary for ITIH4 Gene:
ITIH4 (inter-alpha-trypsin inhibitor heavy chain family, member 4) is a protein-coding gene. Diseases associated with ITIH4 include hypercholesterolemia, and aids dementia complex. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity. An important paralog of this gene is ITIH5.

UniProtKB/Swiss-Prot: ITIH4_HUMAN, Q14624
Function: Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in
liver development or regeneration

Gene Wiki entry for ITIH4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ITIH4 gene promoter:
         c-Fos   AP-2alpha isoform 3   AP-1   AP-2alpha isoform 2   AP-2alpha isoform 4   c-Jun   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITIH4 promoter sequence
   Search Chromatin IP Primers for ITIH4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITIH4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.1   HGNC cytogenetic band: 3p21.1

ITIH4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITIH4 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M052846:  view genomic region     (about GC identifiers)

Start:
52,846,991 bp from pter      End:
52,865,495 bp from pter
Size:
18,505 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ITIH4_HUMAN, Q14624 (See protein sequence)
Recommended Name: Inter-alpha-trypsin inhibitor heavy chain H4 precursor  
Size: 930 amino acids; 103357 Da
Subunit: Interacts (via C-terminus) with DNAJC1 (via SANT 2 domain); this interaction protects ITIH4 against
cleavage by kallikrein in vitro
Miscellaneous: Possible biomarker for acute ischemic stroke (PubMed:19263524). Peptides derived from the
proline-rich potentially active peptide (PRO_0000016542) may be biomarkers for a variety of disease states
including breast cancer (PubMed:21137033)
Secondary accessions: B7Z545 E9PGN5 Q15135 Q9P190 Q9UQ54
Alternative splicing: 4 isoforms:  Q14624-1   Q14624-2   Q14624-3   Q14624-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ITIH4: NX_Q14624

Explore proteomics data for ITIH4 at MOPED

Post-translational modifications: 

  • Cleaved by plasma kallikrein to yield 100 kDa and 35 kDa fragments, and the resulting 100 kDa fragment is further
    converted to a 70 kDa fragment1
  • N- and O-glycosylated. In urine, O-linked glycosylation on threonine residues in the region from Thr-719 to
    Thr-725 consists of core 1 or possibly core 8 glycans. Mainly Hex(HexNAc)(2), but also some Hex(3)(HexNAc)(3).
    N-glycosylated but not O-glycosylated in plasma1
  • Glycosylation2 at Asn81, Asn207, Asn517, Asn577, Thr720
  • Modification sites at PhosphoSitePlus

  • See ITIH4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159921.1  NP_002209.2  

    ENSEMBL proteins: 
     ENSP00000266041   ENSP00000417824   ENSP00000384425   ENSP00000395634   ENSP00000340520  
     ENSP00000440036  

    ITIH4 Human Recombinant Protein Products:

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    Novus Biologicals ITIH4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ITIH4

     
    Search eBioscience for Proteins for ITIH4 

    ITIH4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for ITIH4
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    LSBio Antibodies in human, mouse, rat for ITIH4

    ITIH4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ITIH4
    Cloud-Clone Corp. CLIAs for ITIH4
    Search eBioscience for ELISAs for ITIH4 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR013694 VIT
     IPR010600 ITI_HC_C
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q14624

    ProtoNet protein and cluster: Q14624

    3 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB006587 Vault protein inter-alpha-trypsin
    IPB010600 Inter-alpha-trypsin inhibitor heavy chain


    UniProtKB/Swiss-Prot: ITIH4_HUMAN, Q14624
    Similarity: Belongs to the ITIH family
    Similarity: Contains 1 VIT domain
    Similarity: Contains 1 VWFA domain


    Find genes that share domains with ITIH4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITIH4_HUMAN, Q14624
    Function: Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in
    liver development or regeneration
    Induction: Levels increase from 1.4 to 3-fold in acute-phase processes such as in acute ischemia stroke (AIS),
    unstable angina and programmed surgery. In hepatocytes, induced by IL6 but not by other cytokines such as IL1B

         Genatlas biochemistry entry for ITIH4:
    trypsin inhibitor inter-alpha (protein HC),heavy chain 4

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity TAS9756925
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
    GO:0005515protein binding IPI16271702
         
    Find genes that share ontologies with ITIH4           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Itih4):
     cellular  liver/biliary system  normal  tumorigenesis 

    Find genes that share phenotypes with ITIH4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Itih4tm1Mish for ITIH4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITIH4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITIH4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITIH4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITIH4

    miRNA
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    miRTarBase miRNAs that target ITIH4:
    hsa-mir-375 (MIRT019901)

    Block miRNA regulation of human, mouse, rat ITIH4 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ITIH4:
    hsa-miR-1323 hsa-miR-548o
    SwitchGear 3'UTR luciferase reporter plasmidITIH4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ITIH4

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    OriGene ORF clones in mouse, rat for ITIH4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ITIH4 (NM_002218)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITIH4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITIH4

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITIH4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ITIH4_HUMAN, Q14624: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    mitochondrion2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14718574
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867
    GO:0072562blood microparticle IDA--

    Find genes that share ontologies with ITIH4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including ITIH4: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ITIH4

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for ITIH4 (Q146243 ENSP000002660414) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJC1Q96KC83, ENSP000003661794I2D: score=1 STRING: ENSP00000366179
    GRB2P629933, ENSP000003390074I2D: score=2 STRING: ENSP00000339007
    LGALS3P179313I2D: score=1 
    LGALS8O002143I2D: score=1 
    LGALS9O001823I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006953acute-phase response IEP19263524
    GO:0010951negative regulation of endopeptidase activity TAS9756925
    GO:0030212hyaluronan metabolic process IEA--
    GO:0034097response to cytokine IEP10486281

    Find genes that share ontologies with ITIH4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ITIH4

    Selected Novoseek inferred chemical compound relationships for ITIH4 gene (see all 97)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    c-d4i 87.2 23 12208966 (4), 12487827 (3), 15857992 (2), 12970440 (2) (see all 13)
    galactosylceramide 76.8 52 8457384 (3), 7983725 (3), 8179824 (3), 7929093 (3) (see all 20)
    ic9564 75.2 9 15207637 (5), 9343174 (1), 11120945 (1)
    jm2763 72.9 1 8551604 (1)
    enfuvirtide 72 11 15158765 (2), 10728472 (1), 15956589 (1), 16912327 (1) (see all 7)
    cyanovirin 68.9 8 16912292 (3), 17348010 (2), 19235857 (1)
    cg 10 68.1 4 15829299 (2), 14505910 (1), 17241712 (1)
    bicyclam 67.9 2 8551604 (1), 9420029 (1)
    siamycin i 64.7 1 8787894 (1)
    dextran sulfate 62.4 11 1995952 (3), 8043225 (2), 1551875 (1), 10333239 (1) (see all 5)



    Find genes that share compounds with ITIH4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ITIH4 gene (2 alternative transcripts): 
    NM_001166449.1  NM_002218.4  

    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000266041(uc011bem.2 uc003dfz.3) ENST00000485816 ENST00000406595
    ENST00000464000 ENST00000441637 ENST00000491663 ENST00000461966 ENST00000481977
    ENST00000537897 ENST00000471505 ENST00000484632 ENST00000485894 ENST00000467462
    ENST00000483372 ENST00000473904(uc010hmp.1) ENST00000346281(uc011bel.2 uc003dfy.3 uc011ben.2)
    ENST00000434759
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate ITIH4:
    hsa-miR-1323 hsa-miR-548o
    SwitchGear 3'UTR luciferase reporter plasmidITIH4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ITIH4
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ITIH4
      QuantiFast Probe-based Assays in human, mouse, rat ITIH4

    Selected AceView cDNA sequences (see all 428):

    CR591457 AL557947 BE909286 AA723367 AV654981 AI962765 F27979 AV648742 
    CR625639 CD614258 AV647796 CR603484 BF969985 H96309 BI963802 CB154334 
    CR614295 AA346122 CB163884 CB161586 BI966873 AV653979 NM_002218 AV647813 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ITIH4 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^
    SP1:                                                                                                                                      -                 -   
    SP2:                                                        -     -                                                                       -                 -   
    SP3:                                                                                                                                      -                 -   
    SP4:                                                                                                                                      -                 -   
    SP5:                                                                                                                                                            

    ExUns: 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c · 22d · 22e ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26
    SP1:                          -           -                       -     -                                                         
    SP2:        -     -     -     -           -                       -     -     -     -     -                                       
    SP3:        -     -     -     -           -                       -                                                               
    SP4:                          -                                                                                                   
    SP5:                                      -                                                                                       


    ECgene alternative splicing isoforms for ITIH4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ITIH4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAGGAAGA
    ITIH4 Expression
    About this image


    ITIH4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Sertoli cells Seminiferous Tubules
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ITIH4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITIH4 Protein Expression

    UniProtKB/Swiss-Prot: ITIH4_HUMAN, Q14624
    Tissue specificity: Liver specific

        Pathway & Disease-focused RT2 Profiler PCR Array including ITIH4: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITIH4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for ITIH4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itih41 , 5 inter alpha-trypsin inhibitor, heavy chain 41, 5 74.72(n)1
    69.35(a)1
      14 (19.09 cM)5
    164271  NM_018746.31  NP_061216.21 
     308864765 
    lizard
    (Anolis carolinensis)
    Reptilia ITIH46
    inter-alpha-trypsin inhibitor heavy chain family, ...
    48(a)
    1 ↔ 1
    2(154998971-155035401)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004871721 inter-alpha-trypsin inhibitor heavy chain H3-like 56.47(n)
    51.72(a)
      100487172  XM_002941932.2  XP_002941978.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb66b032 Danio rerio cDNA clone MGC56244 IMAGE5601539, complete cds less 73.69(n)    BC050509.1 


    ENSEMBL Gene Tree for ITIH4 (if available)
    TreeFam Gene Tree for ITIH4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITIH4 gene
    ITIH52  ITIH12  ITIH32  ITIH22  ITIH62  
    6 SIMAP similar genes for ITIH4 using alignment to 5 protein entries:     ITIH4_HUMAN (see all proteins):
    DKFZp686G21125    ITIH3    ITIH1    ITIH5    ITIH2    ITIH6

    Find genes that share paralogs with ITIH4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ITIH4 (see all 647)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs98738561,2
    C,F--52778797(+) gtcacG/Attgcc 2 -- ds50012Minor allele frequency- A:0.06WA 120
    rs1817544261,2
    --52778840(+) TCCTCA/CGGCCT 2 -- ds50010--------
    rs1449886701,2
    --52778928(+) TACAGG/TAATTG 2 -- ds50010--------
    rs1471416801,2
    --52778948(+) TTGGGA/GTGCCT 2 -- ds50010--------
    rs1460021441,2
    C--52778976(+) AGGAA-/AGGAGACC 2 -- ds50010--------
    rs285142861,2
    C,F--52779059(+) TATTTC/ACCTGC 2 -- ds50012Minor allele frequency- A:0.06WA 120
    rs1866467521,2
    --52779079(+) GGCCTC/TGCCTC 2 -- ds50010--------
    rs669664391,2
    C--52779271(-) ACTAC-/AAAAAAAAAAA
    /AAAAAAAAAAAA
    AAAAA
    4 -- ds5001 cds11NA 2
    rs591052191,2
    C--52779281(+) TTTTT-/T/TT  
            
    GTAGT
    4 -- ut311NA 2
    rs764086101,2
    C--52779282(+) TTTTTG/TTAGTC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ITIH4 (52846991 - 52865495 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ITIH4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508928CNV Insertion20534489
    nsv3822CNV Insertion18451855
    nsv876798CNV Loss21882294
    nsv876797CNV Loss21882294
    nsv834698CNV Gain17160897

    Human Gene Mutation Database (HGMD): ITIH4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITIH4
    DNA2.0 Custom Variant and Variant Library Synthesis for ITIH4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600564   
    OMIM disorders: 143890  
    4 diseases for ITIH4:    
    About MalaCards
    hypercholesterolemia    aids dementia complex    rabies    hiv-1


    Find genes that share disorders with ITIH4           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ITIH4 gene (see all 57)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    immunodeficiency 92.3 462 1549584 (3), 8620895 (3), 10799583 (2), 11711617 (2) (see all 99)
    aids dementia complex 76.2 9 8558011 (1), 19634757 (1), 19100722 (1), 17505985 (1) (see all 8)
    hiv infections 75 80 9295204 (4), 1706342 (3), 12775419 (3), 20088758 (2) (see all 61)
    aids 70.4 65 15481145 (2), 7874383 (2), 2234433 (1), 9893752 (1) (see all 57)
    hiv encephalitis 58.3 5 11125889 (2), 7856083 (1), 10665489 (1), 10482626 (1)
    virus infection 50.9 21 10092648 (2), 15540608 (1), 18203956 (1), 18439274 (1) (see all 19)
    dementia 48.5 20 11125889 (2), 2234433 (1), 10817620 (1), 11222997 (1) (see all 19)
    aids-related complex 37.7 2 1671648 (1), 1867027 (1)
    caprine arthritis-encephalitis 36 1 14592773 (1)
    mimicry 34.8 7 9345046 (2), 7678970 (1), 8510178 (1), 18544021 (1) (see all 6)

    Genetic Association Database (GAD): ITIH4
    Human Genome Epidemiology (HuGE) Navigator: ITIH4 (2 documents)

    Export disorders for ITIH4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ITIH4 gene, integrated from 10 sources (see all 845):
    (articles sorted by number of sources associating them with ITIH4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA and deduced amino acid sequence of human PK-120, a plasma kallikrein-sensitive glycoprotein. (PubMed id 7805892)1, 2, 3 Nishimura H....Nagasawa S. (FEBS Lett. 1995)
    2. Isolation and characterization of the human inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) gene (ITIHL1). (PubMed id 8797089)1, 2, 9 Saguchi K.... Tomita M. (J. Biochem. 1996)
    3. Purification and characterization of a novel glycoprotein which has significant homology to heavy chains of inter-alpha-trypsin inhibitor family from human plasma. (PubMed id 7541790)1, 2, 9 Choi-Miura N.-H.... Tomita M. (J. Biochem. 1995)
    4. SNP analysis of the inter-alpha-trypsin inhibitor family heavy chain- related protein (IHRP) gene by a fluorescence-adapted SSCP method. (PubMed id 12147176)1, 2, 9 Tozaki T.... Tomita M. (BMC Med. Genet. 2002)
    5. Cloning and characterization of cDNA for inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP), a novel human plasma glycoprotein. (PubMed id 7775381)1, 2, 9 Saguchi K....Tomita M. (J. Biochem. 1995)
    6. Genome-wide association study identifies five new schizophrenia loci. (PubMed id 21926974)1, 4 (Nat. Genet. 2011)
    7. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)1, 4 So H.C....Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    8. Inter-alpha-trypsin inhibitor heavy chain 4 is a novel marker of acute ischemic stroke. (PubMed id 19263524)1, 2 Kashyap R.S.... Daginawala H.F. (Clin. Chim. Acta 2009)
    9. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    10. BIP co-chaperone MTJ1/ERDJ1 interacts with inter-alpha-trypsin inhibitor heavy chain 4. (PubMed id 16271702)1, 2 Kroczynska B....Blond S.Y. (Biochem. Biophys. Res. Commun. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3700 HGNC: 6169 AceView: ITIH4andMGC52022andMUSTN1 Ensembl:ENSG00000055955 euGenes: HUgn3700
    ECgene: ITIH4 H-InvDB: ITIH4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ITIH4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ITIH4 gene:
    Search GeneIP for patents involving ITIH4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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