SCYL2 (SCY1 like pseudokinase 2)

2006-10-01  

Identity

HGNC
SCYL2
LOCATION
12q23.1
LOCUSID
55681
ALIAS
AMC4,AMCNACC,CVAK104
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55681
MIM: 616365
HGNC: 19286
Ensembl: ENSG00000136021

Variants:

dbSNP: 55681
ClinVar: 55681
TCGA: ENSG00000136021
COSMIC: SCYL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136021ENST00000360820Q6P3W7
ENSG00000136021ENST00000548392F8VPW3
ENSG00000136021ENST00000548871H0YI32
ENSG00000136021ENST00000549687F8VSC5
ENSG00000136021ENST00000550251H0YIK6
ENSG00000136021ENST00000635101A0A0U1RQQ9

Expression (GTEx)

0
5
10
15
20
25
30
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
319601342020Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.7
319601342020Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.7
230479232012Interferon-induced SCYL2 limits release of HIV-1 by triggering PP2A-mediated dephosphorylation of the viral protein Vpu.12
230479232012Interferon-induced SCYL2 limits release of HIV-1 by triggering PP2A-mediated dephosphorylation of the viral protein Vpu.12
196437322009A coated vesicle-associated kinase of 104 kDa (CVAK104) induces lysosomal degradation of frizzled 5 (Fzd5).11
196437322009A coated vesicle-associated kinase of 104 kDa (CVAK104) induces lysosomal degradation of frizzled 5 (Fzd5).11
175874082007CVAK104 is a novel regulator of clathrin-mediated SNARE sorting.18
175874082007CVAK104 is a novel regulator of clathrin-mediated SNARE sorting.18
169145212006Clathrin-dependent association of CVAK104 with endosomes and the trans-Golgi network.16
169145212006Clathrin-dependent association of CVAK104 with endosomes and the trans-Golgi network.16
158092932005CVAK104 is a novel poly-L-lysine-stimulated kinase that targets the beta2-subunit of AP2.19
158092932005CVAK104 is a novel poly-L-lysine-stimulated kinase that targets the beta2-subunit of AP2.19

Citation

Dessen P

SCYL2 (SCY1 like pseudokinase 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43487/scyl2