SIPA1L2 (signal induced proliferation associated 1 like 2)

2003-05-01  

Identity

HGNC
SIPA1L2
LOCATION
1q42.2
LOCUSID
57568
ALIAS
SPAL2,SPAR2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57568
MIM: 611609
HGNC: 23800
Ensembl: ENSG00000116991

Variants:

dbSNP: 57568
ClinVar: 57568
TCGA: ENSG00000116991
COSMIC: SIPA1L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116991ENST00000262861Q9P2F8
ENSG00000116991ENST00000308942Q9P2F8
ENSG00000116991ENST00000366630Q9P2F8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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

Pathways

PathwaySourceExternal ID
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015

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
307065312019Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.18
307065312019Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.18
283803282017Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson's disease in a Han Chinese population.6
283803282017Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson's disease in a Han Chinese population.6
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206027512010Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.9
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206027512010Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.9

Citation

Dessen P

SIPA1L2 (signal induced proliferation associated 1 like 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42299/gene-fusions/js/lib/meetings/