ERC2 (ELKS/RAB6-interacting/CAST family member 2)

2003-11-01  

Identity

HGNC
ERC2
LOCATION
3p14.3
LOCUSID
26059
ALIAS
CAST,CAST1,ELKSL,SPBC110,Spc110
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26059
MIM: 617250
HGNC: 31922
Ensembl: ENSG00000187672

Variants:

dbSNP: 26059
ClinVar: 26059
TCGA: ENSG00000187672
COSMIC: ERC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187672ENST00000288221O15083
ENSG00000187672ENST00000460849O15083
ENSG00000187672ENST00000492584H7C4G9
ENSG00000187672ENST00000612797O15083

Expression (GTEx)

0
5
10
15
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
bronchus
lung
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
347901722021IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.2
347901722021IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.2
316717342019Serine-Arginine Protein Kinase SRPK2 Modulates the Assembly of the Active Zone Scaffolding Protein CAST1/ERC2.5
316717342019Serine-Arginine Protein Kinase SRPK2 Modulates the Assembly of the Active Zone Scaffolding Protein CAST1/ERC2.5
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.52
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.52
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.145
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.145
129231772003Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins.81
129231772003Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins.81

Citation

Dessen P

ERC2 (ELKS/RAB6-interacting/CAST family member 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/928/erc2-(elks-rab6-interacting-cast-family-member-2)