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Gene

IGSF1

immunoglobulin superfamily member 1

Summary

Cytogenetic location
Xq26.1
Coordinates
Chromosome X: 131,273,506–131,289,306 (GRCh38)
Exons
20 exons across 15.8 kb
Protein
1,336 amino acids
Also known as
KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2
MANE Select transcript
ENST00000361420.8NM_001555.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Congenital Hypothyroidism

    • A thyroid hormone deficiency present from birth.

      • 4 GenCC submitters rate it definitive or strong

  • Thyroid Cancer

    • Hypothyroidism

      Abnormally low levels of thyroid hormone.

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

      A disease involving the thyroid gland.

      • 4 GenCC submitters rate it definitive or strong

How IGSF1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where IGSF1 sits. IGSF1 and 3 genes near it on chromosome X, from 130,781,406 to 131,781,405.Chromosome XXq26.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28130.8 Mb131 Mb131.2 Mb131.4 Mb131.6 MbENOX2: 130,622,325–130,903,272, reverse strandENOX2ARHGAP36: 131,036,573–131,089,885, forward strandARHGAP36IGSF1: 131,273,506–131,289,306, reverse strandIGSF1OR13H1: 131,544,074–131,545,000, forward strandOR13H1Diagram of IGSF1: 20 exons on the reverse strand of chromosome XExon 19: 2 known disease-causing sitesExon 18: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 20: 131,273,506–131,273,931, 426 basesExon 19: 131,274,083–131,274,206, 124 basesExon 18: 131,274,599–131,274,877, 279 basesExon 17: 131,274,999–131,275,286, 288 basesExon 16: 131,275,478–131,275,765, 288 basesExon 15: 131,275,961–131,276,248, 288 basesExon 14: 131,276,939–131,277,226, 288 basesExon 13: 131,277,856–131,278,134, 279 basesExon 12: 131,278,461–131,278,751, 291 basesExon 11: 131,279,143–131,279,175, 33 basesExon 10: 131,279,271–131,279,341, 71 basesExon 9: 131,281,218–131,281,338, 121 basesExon 8: 131,281,666–131,281,944, 279 basesExon 7: 131,282,444–131,282,737, 294 basesExon 6: 131,282,980–131,283,264, 285 basesExon 5: 131,285,179–131,285,466, 288 basesExon 4: 131,285,767–131,286,048, 282 basesExon 3: 131,286,437–131,286,463, 27 basesExon 2: 131,286,605–131,286,741, 137 basesExon 1: 131,289,214–131,289,306, 93 bases201816141210864215′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 4.5 kb of the gene's 15.8 kb; 4,011 of those bases code for the protein.

Sequencing IGSF1

0Low

How hard IGSF1 is to sequence with short reads, out of 100

  • Mappability0%
  • Homology0%
  • Repeats0.4%
  • GC content0.9%
  • Reference coverage0%

13

positions in IGSF1 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 15.8 kb of IGSF1, introns included, not only the 4.5 kb of exons.

Genes linked to the same conditions

Traits linked to IGSF1

The Human Phenotype Ontology lists these as features of the rare conditions IGSF1 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • 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.

Cite this page

APA

Dante Labs. (n.d.). IGSF1 gene: immunoglobulin superfamily member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/igsf1

Vancouver

Dante Labs. IGSF1 gene: immunoglobulin superfamily member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/igsf1

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