IGSF3 (immunoglobulin superfamily member 3)

2014-08-01  

Identity

HGNC
IGSF3
LOCATION
1p13.1
LOCUSID
3321
ALIAS
EWI-3,LCDD,V8
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
325734892020IGSF3 mutation identified in patient with severe COPD alters cell function and motility.4
325734892020IGSF3 mutation identified in patient with severe COPD alters cell function and motility.4
315601402019Osteoclastogenesis inhibition by mutated IGSF23 results in human osteopetrosis.5
315601402019Osteoclastogenesis inhibition by mutated IGSF23 results in human osteopetrosis.5
243724062014Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.6
243724062014Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.6

Citation

Dessen P

IGSF3 (immunoglobulin superfamily member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54375/case-report-explorer/deep-insight-explorer/