IGSF1 (immunoglobulin superfamily member 1)

2015-08-01  

Identity

HGNC
LOCATION
Xq26.1
LOCUSID
ALIAS
CHTE,IGCD1,IGDC1,INHBP,PGSF2,p120
FUSION GENES

Other Information

Locus ID:

NCBI: 3547
MIM: 300137
HGNC: 5948
Ensembl: ENSG00000147255

Variants:

dbSNP: 3547
ClinVar: 3547
TCGA: ENSG00000147255
COSMIC: IGSF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147255ENST00000361420Q8N6C5
ENSG00000147255ENST00000370900Q8N6C5
ENSG00000147255ENST00000370901Q8N6C5
ENSG00000147255ENST00000370903Q8N6C5
ENSG00000147255ENST00000370904Q8N6C5
ENSG00000147255ENST00000370910Q8N6C5
ENSG00000147255ENST00000650730A0A494C0E7
ENSG00000147255ENST00000650945A0A494C0H8
ENSG00000147255ENST00000651402A0A494C0W8
ENSG00000147255ENST00000651556Q8N6C5
ENSG00000147255ENST00000652189A0A494C0K8

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
231435982012Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.43
241083132013The IGSF1 deficiency syndrome: characteristics of male and female patients.20
268400472016IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.17
189811732008An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein.14
239662452013Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.14
253544292015IGSF1 variants in boys with familial delayed puberty.9
271463572016Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.9
263027672015Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.8
273106812016Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.8
277627342016A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.6

Citation

Dessen P

IGSF1 (immunoglobulin superfamily member 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-08-01

Online version: http://atlasgeneticsoncology.org/gene/55381/igsf1