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

2013-05-01  

Identity

HGNC
SMCHD1
LOCATION
18p11.32
LOCUSID
23347
ALIAS
BAMS,FSHD2
FUSION GENES
Show Gene Fusions

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
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
388099762024DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.0
388099762024DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.0
368004232023DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.4
369446002023Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant.0
373348292023In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.0
373808872023SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.0
368004232023DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.4
369446002023Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant.0
373348292023In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.0
373808872023SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.0
351216732022Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.1
351216732022Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.1
341099742021SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization.1
348459972021A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2.1
348803142021A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.2

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/css/template-nav.css