Gene Gene information from NCBI Gene database.
Entrez ID 80760
Gene name Inter-alpha-trypsin inhibitor heavy chain 5
Gene symbol ITIH5
Synonyms (NCBI Gene)
ITI-HC5PP14776
Chromosome 10
Chromosome location 10p14
Summary This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasm
miRNA miRNA information provided by mirtarbase database.
294
miRTarBase ID miRNA Experiments Reference
MIRT006553 hsa-miR-29a-3p Luciferase reporter assay 20566844
MIRT667810 hsa-miR-5088-3p HITS-CLIP 23824327
MIRT667809 hsa-miR-1307-3p HITS-CLIP 23824327
MIRT667808 hsa-miR-4638-5p HITS-CLIP 23824327
MIRT667807 hsa-miR-6790-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005576 Component Extracellular region IEA
GO:0030212 Process Hyaluronan metabolic process IEA
GO:0030414 Function Peptidase inhibitor activity IEA
GO:0031012 Component Extracellular matrix HDA 25037231, 28675934
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609783 21449 ENSG00000123243
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86UX2
Protein name Inter-alpha-trypsin inhibitor heavy chain H5 (ITI heavy chain H5) (ITI-HC5) (Inter-alpha-inhibitor heavy chain 5)
Protein function May act as a tumor suppressor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08487 VIT 51 159 Vault protein inter-alpha-trypsin domain Family
PF00092 VWA 295 476 von Willebrand factor type A domain Domain
PF06668 ITI_HC_C 715 909 Inter-alpha-trypsin inhibitor heavy chain C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in placenta. Less abundant expression in mammary gland and ovary. Expression is barely detectable levels in all other tissues tested. {ECO:0000269|PubMed:14744536}.
Sequence
MLLLLGLCLGLSLCVGSQEEAQSWGHSSEQDGLRVPRQVRLLQRLKTKPLMTEFSVKSTI
ISRYAFTTVSCRMLNRASEDQDIEFQMQIPAAAFITNFTMLIGDKVYQGEITEREKKSGD
RVKEKRNKTTEENGEKGTEIFRASAVIPSKDKAAFFLSY
EELLQRRLGKYEHSISVRPQQ
LSGRLSVDVNILESAGIASLEVLPLHNSRQRGSGRGEDDSGPPPSTVINQNETFANIIFK
PTVVQQARIAQNGILGDFIIRYDVNREQSIGDIQVLNGYFVHYFAPKDLPPLPKNVVFVL
DSSASMVGTKLRQTKDALFTILHDLRPQDRFSIIGFSNRIKVWKDHLISVTPDSIRDGKV
YIHHMSPTGGTDINGALQRAIRLLNKYVAHSGIGDRSVSLIVFLTDGKPTVGETHTLKIL
NNTREAARGQVCIFTIGIGNDVDFRLLEKLSLENCGLTRRVHEEEDAGSQLIGFYD
EIRT
PLLSDIRIDYPPSSVVQATKTLFPNYFNGSEIIIAGKLVDRKLDHLHVEVTASNSKKFII
LKTDVPVRPQKAGKDVTGSPRPGGDGEGDTNHIERLWSYLTTKELLSSWLQSDDEPEKER
LRQRAQALAVSYRFLTPFTSMKLRGPVPRMDGLEEAHGMSAAMGPEPVVQSVRGAGTQPG
PLLKKPYQPRIKISKTSVDGDPHFVVDFPLSRLTVCFNIDGQPGDILRLVSDHRDSGVTV
NGELIGAPAPPNGHKKQRTYLRTITILINKPERSYLEITPSRVILDGGDRLVLPCNQSVV
VGSWGLEVSVSANANVTVTIQGSIAFVILIHLYKKPAPFQRHHLGFYIANSEGLSSNCHG
LLGQFLNQDARLTEDPAGPSQNLTHPLLLQVGEGPEAVLTVKGHQVPVVWKQRKIYNGEE
QIDCWFARN
NAAKLIDGEYKDYLAFHPFDTGMTLGQGMSREL
Sequence length 942
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 26252352
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26252352
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28289921
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 40123161 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 24265292
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 14744536, 17653090, 28231808, 28940371
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23320751 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 17653090
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 24265292
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 26252352
★☆☆☆☆
Found in Text Mining only