IGSF1 — immunoglobulin superfamily member 1

5 sources retrieved · Most recent: April 2026 · Index updated 5 months ago

37PubMed Papers

#10,592 · top 54% of 19K genes

21Diseases

top 21%

0Drugs

31Pathogenic Variants

top 35%

OMIM Disease GeneReceptorExperimental GO EvidenceSwiss-Prot Reviewed

negative regulation of activin receptor signaling pathwayinhibin bindingmembraneactivin receptor antagonist activityX-linked central congenital hypothyroidism with late-onset testicular enlargementneurodegenerative diseasehereditary diseasepost-traumatic stress disorder

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

immunoglobulin superfamily member 1

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

X-linked central congenital hypothyroidism with late-onset testicular enlargementOpen Targets

0.78Strong

neurodegenerative diseaseOpen Targets

0.52Moderate

hereditary diseaseOpen Targets

0.47Moderate

post-traumatic stress disorderOpen Targets

0.39Weak

MacroorchidismOpen Targets

0.38Weak

Central hypothyroidismOpen Targets

0.38Weak

hypopituitarismOpen Targets

0.34Weak

cancerOpen Targets

0.08Suggestive

neoplasmOpen Targets

0.08Suggestive

Combined pituitary hormone deficiencies, genetic formsOpen Targets

0.07Suggestive

familial thyroid dyshormonogenesisOpen Targets

0.07Suggestive

type 2 diabetes mellitusOpen Targets

0.06Suggestive

thyroid hormone metabolism, abnormal 1Open Targets

0.06Suggestive

hypothyroidism due to TSH receptor mutationsOpen Targets

0.06Suggestive

obesity due to pro-opiomelanocortin deficiencyOpen Targets

0.06Suggestive

generalized resistance to thyroid hormoneOpen Targets

0.06Suggestive

hypothyroidism, congenital, nongoitrous, 7Open Targets

0.05Suggestive

thyroid ectopiaOpen Targets

0.05Suggestive

thyroid hormone metabolism, abnormal, 3Open Targets

0.05Suggestive

thyrotoxic periodic paralysisOpen Targets

0.05Suggestive

Hypothyroidism, central, and testicular enlargementUniProt

Pathogenic Variants31

NM_001555.5(IGSF1):c.1814_1836dup (p.Arg613delinsGlyArgThrTer)Pathogenic

Inborn genetic diseases|X-linked central congenital hypothyroidism with late-onset testicular enlargement|not provided

★★☆☆2025→ Residue 613

NM_001555.5(IGSF1):c.2407dup (p.His803fs)Pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement

★★☆☆2023→ Residue 803

NM_001555.5(IGSF1):c.3550C>T (p.Arg1184Ter)Pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement|not provided

★★☆☆2021→ Residue 1184

NM_001555.5(IGSF1):c.2974C>T (p.Arg992Ter)Pathogenic

Pituitary hormone deficiency

★☆☆☆2026→ Residue 992

NM_001555.5(IGSF1):c.2145T>A (p.Tyr715Ter)Pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement

★☆☆☆2026→ Residue 715

NM_001555.5(IGSF1):c.2036_2037insA (p.Thr680fs)Likely pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement

★☆☆☆2026→ Residue 680

NM_001555.5(IGSF1):c.2303T>C (p.Leu768Pro)Pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement|not provided

★☆☆☆2025→ Residue 768

NM_001555.5(IGSF1):c.2380C>T (p.Arg794Ter)Pathogenic

IGSF1-related disorder

★☆☆☆2025→ Residue 794

NM_001555.5(IGSF1):c.2175del (p.Gln725fs)Pathogenic

Inborn genetic diseases

★☆☆☆2025→ Residue 725

NM_001555.5(IGSF1):c.380-1G>ALikely pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement

★☆☆☆2025

NM_001555.5(IGSF1):c.2816_2819dup (p.Tyr940Ter)Likely pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement

★☆☆☆2025→ Residue 940

NM_001555.5(IGSF1):c.257_264dup (p.Val89fs)Pathogenic

Pituitary hormone deficiency

★☆☆☆2025→ Residue 89

NM_001555.5(IGSF1):c.461_486del (p.Gly154fs)Pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement

★☆☆☆2024→ Residue 154

NM_001555.5(IGSF1):c.404_407del (p.Trp135fs)Pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement

★☆☆☆2024→ Residue 135

NM_001555.5(IGSF1):c.2333dup (p.Pro779fs)Pathogenic

Paediatric disorders

★☆☆☆2024→ Residue 779

NM_001555.5(IGSF1):c.3868C>T (p.Arg1290Ter)Likely pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement

★☆☆☆2024→ Residue 1290

NM_001555.5(IGSF1):c.3763C>T (p.Gln1255Ter)Pathogenic

not provided

★☆☆☆2023→ Residue 1255

NM_001555.5(IGSF1):c.2042-1_2042delLikely pathogenic

X-linked central congenital hypothyroidism with late-onset testicular enlargement

★☆☆☆2022

NM_001555.5(IGSF1):c.70+1G>APathogenic

not provided|Thyroid cancer, nonmedullary, 1

★☆☆☆2022

NM_001555.5(IGSF1):c.3043G>T (p.Gly1015Ter)Pathogenic

not provided

★☆☆☆2022→ Residue 1015

Tissue Expression6 tissues

Heart

100%

Brain

29%

Liver

10%

Ovary

Lung

Bone Marrow

Gene Interaction Network6 neighbors

Click a node to explore

StructureAlphaFold

Preparing viewer…

AlphaFoldAI-predicted · UniProt Q8N6C5

View on AlphaFold

ConstraintgnomAD v4.1

LOEUFⓘ

0.55Moderately Constrained

pLIⓘ

0.10Tolerant

Observed/Expected LoF0.42 [0.33–0.55]

Rankings3 dim

Where IGSF1 stands among ~20K protein-coding genes

#10,636of 20,598
Most Researched37
#1,832of 5,529
Most Pathogenic Variants31
#3,496of 17,882
Most Constrained (LOEUF)0.55 · top quartile