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ITIH4 (inter-alpha-trypsin inhibitor heavy chain family member 4)

Identity

Alias_namesITIHL1
inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)
inter-alpha-trypsin inhibitor heavy chain family, member 4
Alias_symbol (synonym)IHRP
H4P
Other aliasGP120
ITI-HC4
PK-120
PK120
HGNC (Hugo) ITIH4
LocusID (NCBI) 3700
Atlas_Id 53598
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 52847006 and ends at 52864717 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARHGEF1 (19q13.2) / ITIH4 (3p21.1)ONECUT1 (15q21.3) / ITIH4 (3p21.1)SART1 (11q13.1) / ITIH4 (3p21.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ITIH4   6169
Cards
Entrez_Gene (NCBI)ITIH4  3700  inter-alpha-trypsin inhibitor heavy chain family member 4
AliasesGP120; H4P; IHRP; ITI-HC4; 
ITIHL1; PK-120; PK120
GeneCards (Weizmann)ITIH4
Ensembl hg19 (Hinxton)ENSG00000055955 [Gene_View]  chr3:52847006-52864717 [Contig_View]  ITIH4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000055955 [Gene_View]  chr3:52847006-52864717 [Contig_View]  ITIH4 [Vega]
ICGC DataPortalENSG00000055955
TCGA cBioPortalITIH4
AceView (NCBI)ITIH4
Genatlas (Paris)ITIH4
WikiGenes3700
SOURCE (Princeton)ITIH4
Genetics Home Reference (NIH)ITIH4
Genomic and cartography
GoldenPath hg19 (UCSC)ITIH4  -     chr3:52847006-52864717 -  3p21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ITIH4  -     3p21.1   [Description]    (hg38-Dec_2013)
EnsemblITIH4 - 3p21.1 [CytoView hg19]  ITIH4 - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBIITIH4 [Mapview hg19]  ITIH4 [Mapview hg38]
OMIM143890   600564   
Gene and transcription
Genbank (Entrez)AB209388 AI217735 AK298407 AK298412 AK298429
RefSeq transcript (Entrez)NM_001166449 NM_002218
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_016006 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)ITIH4
Cluster EST : UnigeneHs.709406 [ NCBI ]
CGAP (NCI)Hs.709406
Alternative Splicing GalleryENSG00000055955
Gene ExpressionITIH4 [ NCBI-GEO ]   ITIH4 [ EBI - ARRAY_EXPRESS ]   ITIH4 [ SEEK ]   ITIH4 [ MEM ]
Gene Expression Viewer (FireBrowse)ITIH4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3700
GTEX Portal (Tissue expression)ITIH4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14624   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14624  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14624
Splice isoforms : SwissVarQ14624
PhosPhoSitePlusQ14624
Domaine pattern : Prosite (Expaxy)VIT (PS51468)    VWFA (PS50234)   
Domains : Interpro (EBI)ITI_HC_C    VIT    VWF_A   
Domain families : Pfam (Sanger)ITI_HC_C (PF06668)    VIT (PF08487)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam06668    pfam08487    pfam00092   
Domain families : Smart (EMBL)VIT (SM00609)  VWA (SM00327)  
Conserved Domain (NCBI)ITIH4
DMDM Disease mutations3700
Blocks (Seattle)ITIH4
SuperfamilyQ14624
Human Protein AtlasENSG00000055955
Peptide AtlasQ14624
HPRD02781
IPIIPI00896419   IPI00218192   IPI01010866   IPI01018048   IPI00896413   IPI00798006   IPI00944960   
Protein Interaction databases
DIP (DOE-UCLA)Q14624
IntAct (EBI)Q14624
FunCoupENSG00000055955
BioGRIDITIH4
STRING (EMBL)ITIH4
ZODIACITIH4
Ontologies - Pathways
QuickGOQ14624
Ontology : AmiGOplatelet degranulation  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  plasma membrane  acute-phase response  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  hyaluronan metabolic process  platelet dense granule lumen  response to cytokine  extracellular exosome  blood microparticle  
Ontology : EGO-EBIplatelet degranulation  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  plasma membrane  acute-phase response  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  hyaluronan metabolic process  platelet dense granule lumen  response to cytokine  extracellular exosome  blood microparticle  
NDEx NetworkITIH4
Atlas of Cancer Signalling NetworkITIH4
Wikipedia pathwaysITIH4
Orthology - Evolution
OrthoDB3700
GeneTree (enSembl)ENSG00000055955
Phylogenetic Trees/Animal Genes : TreeFamITIH4
HOVERGENQ14624
HOGENOMQ14624
Homologs : HomoloGeneITIH4
Homology/Alignments : Family Browser (UCSC)ITIH4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITIH4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITIH4
dbVarITIH4
ClinVarITIH4
1000_GenomesITIH4 
Exome Variant ServerITIH4
ExAC (Exome Aggregation Consortium)ITIH4 (select the gene name)
Genetic variants : HAPMAP3700
Genomic Variants (DGV)ITIH4 [DGVbeta]
DECIPHER (Syndromes)3:52847006-52864717  ENSG00000055955
CONAN: Copy Number AnalysisITIH4 
Mutations
ICGC Data PortalITIH4 
TCGA Data PortalITIH4 
Broad Tumor PortalITIH4
OASIS PortalITIH4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITIH4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITIH4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ITIH4
DgiDB (Drug Gene Interaction Database)ITIH4
DoCM (Curated mutations)ITIH4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITIH4 (select a term)
intoGenITIH4
Cancer3DITIH4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM143890    600564   
Orphanet
MedgenITIH4
Genetic Testing Registry ITIH4
NextProtQ14624 [Medical]
TSGene3700
GENETestsITIH4
Huge Navigator ITIH4 [HugePedia]
snp3D : Map Gene to Disease3700
BioCentury BCIQITIH4
ClinGenITIH4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3700
Chemical/Pharm GKB GenePA29967
Clinical trialITIH4
Miscellaneous
canSAR (ICR)ITIH4 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITIH4
EVEXITIH4
GoPubMedITIH4
iHOPITIH4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:05:37 CEST 2017

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