ITM2B

Curated reports relevant to this gene

• Cerebral Amyloid Angiopathy

  • Autosomal dominant

    Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.

    • ClinGen rates the link moderate
    • 1 GenCC submitter rates it definitive or strong

• Hereditary Amyloidosis

  • Autosomal dominant

    Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII).

    • ClinGen rates the link moderate
    • 1 GenCC submitter rates it definitive or strong

    ▶Actionability

    Tafamidis (kinetic stabilizer), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisense), liver transplantation

How ITM2B is laid out

Exons make up 10.1 kb of the gene's 37.2 kb; 801 of those bases code for the protein.

Sequencing ITM2B

Genes linked to the same conditions

• APPamyloid beta precursor proteinShares 2 conditions
• CST3cystatin CShares 2 conditions
• APOA1apolipoprotein A1Shares 1 condition
• APOA4apolipoprotein A4Shares 1 condition
• B2Mbeta-2-microglobulinShares 1 condition
• FGAfibrinogen alpha chainShares 1 condition
• GPNMBglycoprotein nmbShares 1 condition
• GSNgelsolinShares 1 condition
• LYZlysozymeShares 1 condition
• OSMRoncostatin M receptorShares 1 condition
• TTRtransthyretinShares 1 condition

Traits linked to ITM2B

The Human Phenotype Ontology lists these as features of the rare conditions ITM2B can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.17-8666dff2.

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