SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)

2013-05-01  

Identity

HGNC
LOCATION
18p11.32
LOCUSID
ALIAS
BAMS,FSHD2
FUSION GENES

Other Information

Locus ID:

NCBI: 23347
MIM: 614982
HGNC: 29090
Ensembl: ENSG00000101596

Variants:

dbSNP: 23347
ClinVar: 23347
TCGA: ENSG00000101596
COSMIC: SMCHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101596ENST00000320876A6NHR9
ENSG00000101596ENST00000577880J3KTL8
ENSG00000101596ENST00000583800J3KTK7
ENSG00000101596ENST00000584897J3QSH1
ENSG00000101596ENST00000585229J3KRK8
ENSG00000101596ENST00000642953A0A2R8YCU7
ENSG00000101596ENST00000645355A0A2R8YE92

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
231436002012Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.200
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
240751872013The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.62
235421552013Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway.59
263560062015Genetic and epigenetic contributors to FSHD.36
253700342015Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.34
280679092017SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.32
263919512015Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.20
280679112017De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.20
232692772013Epigenetic regulator Smchd1 functions as a tumor suppressor.19

Citation

Dessen P

SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53305/smchd1