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Gene

SECISBP2

SECIS binding protein 2

Summary

Cytogenetic location
9q22.2
Coordinates
Chromosome 9: 89,318,500–89,359,663 (GRCh38)
Exons
17 exons across 41.2 kb
Protein
854 amino acids
Inheritance
Autosomal recessive
Also known as
SBP2
MANE Select transcript
ENST00000375807.8NM_024077.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Congenital Hypothyroidism

    • A thyroid hormone deficiency present from birth.

      • 3 GenCC submitters rate it definitive or strong

  • Thyroid Cancer

    • Hypothyroidism

      Abnormally low levels of thyroid hormone.

      • 3 GenCC submitters rate it definitive or strong
    • Thyroid Gland Disorder

      A disease involving the thyroid gland.

      • 3 GenCC submitters rate it definitive or strong

  • Thyroid Hormone Resistance, Transport & Metabolism Defects

    • SECISBP2-related abnormal thyroid hormone metabolismAutosomal recessive

      A defect in selenoprotein production that disturbs thyroid hormone processing, with high T4, low T3 and other features.

      • 3 GenCC submitters rate it definitive or strong

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 SECISBP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where SECISBP2 sits. SECISBP2 and 5 genes near it on chromosome 9, from 88,839,082 to 89,839,081.Chromosome 99q22.2p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.389 Mb89.2 Mb89.4 Mb89.6 Mb89.8 MbS1PR3: 88,990,863–89,005,328, forward strandS1PR3SHC3: 89,005,771–89,180,070, reverse strandSHC3CKS2: 89,311,155–89,316,715, forward strandCKS2SECISBP2: 89,318,500–89,359,663, forward strandSECISBP2SEMA4D: 89,360,781–89,498,201, reverse strandSEMA4DGADD45G: 89,604,939–89,609,775, forward strandGADD45GDiagram of SECISBP2: 17 exons on the forward strand of chromosome 9Exon 3: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 1: 89,318,500–89,318,612, 113 basesExon 2: 89,319,652–89,319,797, 146 basesExon 3: 89,325,427–89,325,676, 250 basesExon 4: 89,325,897–89,326,038, 142 basesExon 5: 89,328,660–89,328,886, 227 basesExon 6: 89,332,908–89,332,986, 79 basesExon 7: 89,334,522–89,334,730, 209 basesExon 8: 89,338,458–89,338,580, 123 basesExon 9: 89,339,864–89,339,953, 90 basesExon 10: 89,341,347–89,341,479, 133 basesExon 11: 89,346,882–89,347,048, 167 basesExon 12: 89,348,079–89,348,214, 136 basesExon 13: 89,349,776–89,349,929, 154 basesExon 14: 89,350,632–89,350,852, 221 basesExon 15: 89,357,411–89,357,565, 155 basesExon 16: 89,357,999–89,358,191, 193 basesExon 17: 89,358,721–89,359,663, 943 bases1246810121416175′3′

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 3.5 kb of the gene's 41.2 kb; 2,565 of those bases code for the protein.

How a genome test reads SECISBP2

8

positions in SECISBP2 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 41.2 kb of SECISBP2, introns included, not only the 3.5 kb of exons.

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

APA

Dante Labs. (n.d.). SECISBP2 gene: SECIS binding protein 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/secisbp2

Vancouver

Dante Labs. SECISBP2 gene: SECIS binding protein 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/secisbp2

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