Gene
SULT2B1
sulfotransferase family 2B member 1
- HGNC 11459(opens in a new tab)
- Ensembl gene ENSG00000088002(opens in a new tab)
- NCBI Gene 6820(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.33
- Coordinates
- Chromosome 19: 48,552,172–48,599,423 (GRCh38)
- Exons
- 7 exons across 47.3 kb
- Protein
- 365 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- HSST2
- MANE Select transcript
- ENST00000201586.7NM_177973.2
- 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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Inherited Ichthyoses
- Autosomal recessive congenital ichthyosisAutosomal recessive
A group of recessive ichthyoses, including harlequin ichthyosis and lamellar ichthyosis, usually present at birth, often with a collodion membrane.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Early diagnosis guides neonatal care, emollient and keratolytic regimens, and heat-intolerance precautions.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SULT2B1 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 1.2 kb of the gene's 47.3 kb; 1,098 of those bases code for the protein.
How a genome test reads SULT2B1
7
positions in SULT2B1 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 47.3 kb of SULT2B1, introns included, not only the 1.2 kb of exons.
Traits linked to SULT2B1
The Human Phenotype Ontology lists these as features of the rare conditions SULT2B1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Everted eyelid
- Cicatricial ectropion
- Eyelids stay open
- Hair loss on scalp from scarring condition
- Outward turned lips
- Sparse or absent eyebrows
- Chronic irritative conjunctivitis
- Euryblepharon
Show 4 more traits
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.
- GenCC and ClinGen, released 2026-10-16: 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 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SULT2B1 gene: sulfotransferase family 2B member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/sult2b1
Dante Labs. SULT2B1 gene: sulfotransferase family 2B member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sult2b1
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