SMN2 (survival of motor neuron 2, centromeric)

2014-11-01  

Identity

HGNC
SMN2
LOCATION
5q13.2
LOCUSID
6607
ALIAS
BCD541,C-BCD541,GEMIN1,SMNC,TDRD16B

Other Information

Locus ID:

NCBI: 6607
MIM: 601627
HGNC: 11118
Ensembl: ENSG00000205571

Variants:

dbSNP: 6607
ClinVar: 6607
TCGA: ENSG00000205571
COSMIC: SMN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205571ENST00000380741Q16637
ENSG00000205571ENST00000380742Q16637
ENSG00000205571ENST00000380743Q16637
ENSG00000205571ENST00000506734E7EQZ4
ENSG00000205571ENST00000507458U3KPX7
ENSG00000205571ENST00000511812B4DP61
ENSG00000205571ENST00000511873H0YBZ9
ENSG00000205571ENST00000614240Q16637
ENSG00000205571ENST00000626847Q16637
ENSG00000205571ENST00000628696E7EQZ4
ENSG00000205571ENST00000638794A0A1W2PRV5

Expression (GTEx)

0
1
2
3
4
5
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
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Survival motor neuron (SMN) complexKEGGhsa_M00426
Survival motor neuron (SMN) complexKEGGM00426
Gene ExpressionREACTOMER-HSA-74160
Metabolism of non-coding RNAREACTOMER-HSA-194441
snRNP AssemblyREACTOMER-HSA-191859

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166182882nusinersenChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
362557392023A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy.0
369731142023Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.5
375103072023The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.0
376952062023Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?4
362557392023A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy.0
369731142023Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.5
375103072023The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.0
376952062023Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?4
350184322022Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA.6
350881202022Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA.1
352198152022Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA.1
354312592022Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?9
354564912022High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts.1
356126222022Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.3
356676852022Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression.0

Citation

Dessen P

SMN2 (survival of motor neuron 2, centromeric)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73587/haematological-explorer/css/gene-fusions-explorer/