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Gene

STIM1

stromal interaction molecule 1

Summary

Cytogenetic location
11p15.4
Coordinates
Chromosome 11: 3,855,664–4,093,208 (GRCh38)
Exons
13 exons across 237.5 kb
Protein
716 amino acids
Also known as
GOK, D11S4896E
MANE Select transcript
ENST00000526596.2NM_001382567.1
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

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

How STIM1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where STIM1 sits. STIM1 and 15 genes near it on chromosome 11, from 3,474,436 to 4,474,435.Chromosome 1111p15.4p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q253.6 Mb3.8 Mb4 Mb4.2 Mb4.4 MbART5: 3,638,503–3,643,187, reverse strandART5ART1: 3,645,106–3,668,548, forward strandART1CHRNA10: 3,665,587–3,671,384, reverse strandCHRNA10NUP98: 3,671,083–3,797,792, reverse strandNUP98PGAP2: 3,797,724–3,835,654, forward strandPGAP2RHOG: 3,826,978–3,841,346, reverse strandRHOGSTIM1: 3,855,664–4,093,208, forward strandSTIM1RRM1: 4,094,707–4,140,686, forward strandRRM1SSU72L5: 4,233,217–4,234,287, forward strandSSU72L5SSU72L2: 4,241,641–4,242,706, reverse strandSSU72L2SSU72L4: 4,287,084–4,288,185, reverse strandSSU72L4SSU72L3: 4,329,790–4,330,864, forward strandSSU72L3SSU72L1: 4,338,245–4,339,345, reverse strandSSU72L1OR52B4: 4,367,263–4,368,386, reverse strandOR52B4TRIM21: 4,384,897–4,393,747, reverse strandTRIM21OR52K2: 4,449,295–4,450,361, forward strandOR52K2Diagram of STIM1: 13 exons on the forward strand of chromosome 11Exon 1: 1 known disease-causing siteExon 2: 7 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 6 known disease-causing sitesExon 1: 3,855,664–3,856,409, 746 basesExon 2: 3,967,552–3,967,682, 131 basesExon 3: 4,023,873–4,023,987, 115 basesExon 4: 4,055,526–4,055,637, 112 basesExon 5: 4,059,281–4,059,396, 116 basesExon 6: 4,070,026–4,070,203, 178 basesExon 7: 4,074,502–4,074,679, 178 basesExon 8: 4,082,184–4,082,351, 168 basesExon 9: 4,082,882–4,082,982, 101 basesExon 10: 4,083,263–4,083,498, 236 basesExon 11: 4,084,673–4,084,765, 93 basesExon 12: 4,086,477–4,086,543, 67 basesExon 13: 4,091,282–4,093,208, 1,927 bases1510135′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 4.2 kb of the gene's 237.5 kb; 2,151 of those bases code for the protein.

How a genome test reads STIM1

29

positions in STIM1 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 237.5 kb of STIM1, introns included, not only the 4.2 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.). STIM1 gene: stromal interaction molecule 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/stim1

Vancouver

Dante Labs. STIM1 gene: stromal interaction molecule 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/stim1

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