ITIH2

Chr 10

inter-alpha-trypsin inhibitor heavy chain 2

Also known as: H2P, ITI-HC2, SHAP

The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]

OMIMResearchGenerating clinical summary…
0
Active trials
23
Pubs (1 yr)
P/LP submissions
P/LP missense
1.09
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.09LOEUF
pLI 0.000
Z-score 1.04
OE 0.84 (0.651.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.61Z-score
OE missense 0.93 (0.861.00)
495 obs / 534.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.84 (0.651.09)
00.351.4
Missense OE?0.93 (0.861.00)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 39 / 46.6Missense obs/exp: 495 / 534.9Syn Z: 0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ITIH2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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