ILVBL (ilvB acetolactate synthase like)

2014-11-01  

Identity

HGNC
ILVBL
LOCATION
19p13.12
LOCUSID
10994
ALIAS
209L8,AHAS,HACL1L,ILV2H
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10994
MIM: 605770
HGNC: 6041
Ensembl: ENSG00000105135

Variants:

dbSNP: 10994
ClinVar: 10994
TCGA: ENSG00000105135
COSMIC: ILVBL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105135ENST00000263383A1L0T0
ENSG00000105135ENST00000527093E9PJS0
ENSG00000105135ENST00000533148E9PNL1
ENSG00000105135ENST00000533747E9PL44
ENSG00000105135ENST00000534378M0R026
ENSG00000105135ENST00000598709M0QZX5
ENSG00000105135ENST00000600984M0R1B5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
292462162017Association analysis of ILVBL gene polymorphisms with aspirin-exacerbated respiratory disease in asthma.2
292462162017Association analysis of ILVBL gene polymorphisms with aspirin-exacerbated respiratory disease in asthma.2

Citation

Dessen P

ILVBL (ilvB acetolactate synthase like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64606/ilvbl-(ilvb-acetolactate-synthase-like)