SNTB2 (syntrophin beta 2)

2014-08-01 Affiliation

Identity

HGNC

SNTB2

LOCATION

16q22.1

LOCUSID

6645

ALIAS

D16S2531E,EST25263,SNT2B2,SNT3,SNTL

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6645
MIM: 600027
HGNC: 11169
Ensembl: ENSG00000168807

Variants:

dbSNP: 6645
ClinVar: 6645
TCGA: ENSG00000168807
COSMIC: SNTB2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000168807	ENST00000336278	Q13425
ENSG00000168807	ENST00000336278	A0A024R732
ENSG00000168807	ENST00000360496	H7BY41
ENSG00000168807	ENST00000467311	Q13425
ENSG00000168807	ENST00000524887	J3KT21
ENSG00000168807	ENST00000525632	H0YCS0

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
12899872	2003	Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.	10
30571189	2018	Reduced Na<sup>+</sup> Current in Native Cardiomyocytes of a Brugada Syndrome Patient Associated With β-2-Syntrophin Mutation.	1
22735534	2012	Equilibrium unfolding of the PDZ domain of β2-syntrophin.	0
30990585	2019	Adipocyte Hypertrophy and Improved Postprandial Lipid Response in Beta 2 Syntrophin Deficient Mice.	0

Citation

Dessen P

SNTB2 (syntrophin beta 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54650/sntb2