IGSF3 (immunoglobulin superfamily member 3)

2014-08-01  

Identity

HGNC
LOCATION
1p13.1
LOCUSID
ALIAS
EWI-3,LCDD,V8
FUSION GENES

Other Information

Locus ID:

NCBI: 3321
MIM: 603491
HGNC: 5950
Ensembl: ENSG00000143061

Variants:

dbSNP: 3321
ClinVar: 3321
TCGA: ENSG00000143061
COSMIC: IGSF3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143061ENST00000318837O75054
ENSG00000143061ENST00000369483O75054
ENSG00000143061ENST00000369486O75054

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
243724062014Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.2
315601402019Osteoclastogenesis inhibition by mutated IGSF23 results in human osteopetrosis.1

Citation

Dessen P

IGSF3 (immunoglobulin superfamily member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54375/igsf3