ISLR2 (immunoglobulin superfamily containing leucine rich repeat 2)

2014-11-01  

Identity

HGNC
ISLR2
LOCATION
15q24.1
LOCUSID
57611
ALIAS
LINX
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57611
MIM: 614179
HGNC: 29286
Ensembl: ENSG00000167178

Variants:

dbSNP: 57611
ClinVar: 57611
TCGA: ENSG00000167178
COSMIC: ISLR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167178ENST00000361742Q6UXK2
ENSG00000167178ENST00000419208Q24JQ5
ENSG00000167178ENST00000435464Q6UXK2
ENSG00000167178ENST00000453268Q6UXK2
ENSG00000167178ENST00000561740H3BNZ6
ENSG00000167178ENST00000565159Q6UXK2
ENSG00000167178ENST00000565332H3BM69
ENSG00000167178ENST00000565540Q6UXK2
ENSG00000167178ENST00000569886H3BM95

Expression (GTEx)

0
5
10
15
20
25
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
N/A

References

Pubmed IDYearTitleCitations
304839602019A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.0

Citation

Dessen P

ISLR2 (immunoglobulin superfamily containing leucine rich repeat 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64672/islr2