ITIH2

inter-alpha-trypsin inhibitor heavy chain 2, the group of Inter-alpha-trypsin inhibitor heavy chains|Gla domain containing

Basic information

Region (hg38): 10:7703316-7749520

Links

ENSG00000151655 ∙ NCBI:3698 ∙ OMIM:146640 ∙ HGNC:6167 ∙ Uniprot:P19823 ∙ 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 ITIH2 gene.

• not_specified (129 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITIH2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002216.3. 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		1
missense			131	2		133
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	132	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ITIH2	protein_coding	protein_coding	ENST00000358415	21	46252

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.80e-23	0.0154	125363	2	382	125747	0.00153

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.613	495	535	0.925	0.0000296	6237
Missense in Polyphen		159	168.65	0.94281		2038
Synonymous	0.337	209	215	0.971	0.0000138	1797
Loss of Function	1.04	39	46.6	0.836	0.00000223	570

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00101	0.00101
Ashkenazi Jewish	0.00218	0.00218
East Asian	0.00164	0.00163
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.00119	0.00119
Middle Eastern	0.00164	0.00163
South Asian	0.00511	0.00501
Other	0.00196	0.00196

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: Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Recessive Scores

• pRec: 0.131

Intolerance Scores

• loftool: 0.557
• rvis_EVS: 0.15
• rvis_percentile_EVS: 63.82

Haploinsufficiency Scores

• pHI: 0.191
• hipred: N
• hipred_score: 0.443
• ghis: 0.427

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.835

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Itih2

Gene ontology

• Biological process: negative regulation of endopeptidase activity;hyaluronan metabolic process;post-translational protein modification;cellular protein metabolic process
• Cellular component: extracellular region;endoplasmic reticulum lumen;collagen-containing extracellular matrix;extracellular exosome;blood microparticle
• Molecular function: endopeptidase inhibitor activity;serine-type endopeptidase inhibitor activity