ITIH3

inter-alpha-trypsin inhibitor heavy chain 3, the group of Inter-alpha-trypsin inhibitor heavy chains

Basic information

Region (hg38): 3:52794768-52808799

Links

ENSG00000162267 ∙ NCBI:3699 ∙ OMIM:146650 ∙ HGNC:6168 ∙ Uniprot:Q06033 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ITIH3 gene.

• not_specified (116 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITIH3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002217.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	3	4
missense			114	2	2	118
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	114	3	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ITIH3	protein_coding	protein_coding	ENST00000449956	22	14242

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.46e-13	0.923	124994	0	133	125127	0.000532

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.836	465	519	0.897	0.0000300	5849
Missense in Polyphen		136	150.65	0.90274		1801
Synonymous	-0.208	218	214	1.02	0.0000141	1656
Loss of Function	2.12	27	41.8	0.646	0.00000186	517

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00135	0.00133
Ashkenazi Jewish	0.000801	0.000795
East Asian	0.000335	0.000330
Finnish	0.000143	0.000139
European (Non-Finnish)	0.000446	0.000424
Middle Eastern	0.000335	0.000330
South Asian	0.000922	0.000882
Other	0.000720	0.000656

dbNSFP

Source: dbNSFP

• Function: 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.
• Pathway: Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.673
• rvis_EVS: 0.99
• rvis_percentile_EVS: 90.49

Haploinsufficiency Scores

• pHI: 0.225
• hipred: N
• hipred_score: 0.170
• ghis: 0.453

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.163

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Itih3

Gene ontology

• Biological process: platelet degranulation;negative regulation of endopeptidase activity;hyaluronan metabolic process
• Cellular component: extracellular region;platelet dense granule lumen;extracellular exosome
• Molecular function: endopeptidase inhibitor activity;serine-type endopeptidase inhibitor activity