Gene
SH2B3
SH2B adaptor protein 3
- HGNC 29605↗(opens in a new tab)
- Ensembl gene ENSG00000111252↗(opens in a new tab)
- NCBI Gene 10019↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q24.12
- Coordinates
- Chromosome 12: 111,405,923–111,451,623 (GRCh38)
- Exons
- 8 exons across 45.7 kb
- Protein
- 575 amino acids
- Also known as
- LNK, IDDM20
- MANE Select transcript
- ENST00000341259.7NM_005475.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads SH2B3 yet. The test sequences your whole genome, so your data includes it all the same.
How SH2B3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.4 kb of the gene's 45.7 kb; 1,728 of those bases code for the protein.
How a genome test reads SH2B3
2
positions in SH2B3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 45.7 kb of SH2B3, introns included, not only the 5.4 kb of exons.
Traits linked to SH2B3
The Human Phenotype Ontology lists these as features of the rare conditions SH2B3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of blood and blood-forming tissues
- Extramedullary hematopoiesis
- Impaired ADP-induced platelet aggregation
- Impaired collagen-induced platelet aggregation
- Impaired epinephrine-induced platelet aggregation
- Increased circulating hemoglobin concentration
- Increased hematocrit
- Increased number of platelets in blood
- Myelofibrosis
Show 19 more traits
- Abnormal shape of platelets
- Blood clot in artery
- Blood clot in vein
- Bone marrow disease
- Increased megakaryocyte count
- Megakaryocyte nucleus hyperlobulation
- Platelet abnormalities
- Prolonged bleeding time
- Bleeding tendency
- Acute blood cancer
- Blood clot in liver vein
- Bruising susceptibility
- Elevated white blood count
- Myelodysplasia
- Bleeding in brain
- Blood spots
- Increased red blood cell mass
- Myeloproliferative disorder
- Peripheral blood clot
External links
Gene records
Transcript
Protein
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.
- 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 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SH2B3 gene: SH2B adaptor protein 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/sh2b3
Dante Labs. SH2B3 gene: SH2B adaptor protein 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sh2b3
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