SFMBT1 (Scm like with four mbt domains 1)

2004-11-01  

Identity

HGNC
SFMBT1
LOCATION
3p21.1
LOCUSID
51460
ALIAS
RU1,SFMBT,hSFMBT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51460
MIM: 607319
HGNC: 20255
Ensembl: ENSG00000163935

Variants:

dbSNP: 51460
ClinVar: 51460
TCGA: ENSG00000163935
COSMIC: SFMBT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163935ENST00000394752Q9UHJ3
ENSG00000163935ENST00000394752A0A024R338
ENSG00000163935ENST00000482396C9IY64
ENSG00000163935ENST00000483069C9IZZ5
ENSG00000163935ENST00000497586C9JWI3

Expression (GTEx)

0
10
20
30
40
50
60
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 IDYearTitleCitations
235927952013SFMBT1 functions with LSD1 to regulate expression of canonical histone genes and chromatin-related factors.31
175998392007Human SFMBT is a transcriptional repressor protein that selectively binds the N-terminal tail of histone H3.24
224793462012Identification of IGF1, SLC4A4, WWOX, and SFMBT1 as hypertension susceptibility genes in Han Chinese with a genome-wide gene-based association study.23
239283052013The malignant brain tumor (MBT) domain protein SFMBT1 is an integral histone reader subunit of the LSD1 demethylase complex for chromatin association and epithelial-to-mesenchymal transition.17
233494612013Proteomic and functional analyses reveal the role of chromatin reader SFMBT1 in regulating epigenetic silencing and the myogenic gene program.14
213257612011Segmental copy number loss of SFMBT1 gene in elderly individuals with ventriculomegaly: a community-based study.6
298860712018MiR-20a-3p regulates TGF-β1/Survivin pathway to affect keratinocytes proliferation and apoptosis by targeting SFMBT1 in vitro.4
287896182017Genome-wide copy number variation analysis identified deletions in SFMBT1 associated with fasting plasma glucose in a Han Chinese population.3
278615352016A Segmental Copy Number Loss of the SFMBT1 Gene Is a Genetic Risk for Shunt-Responsive, Idiopathic Normal Pressure Hydrocephalus (iNPH): A Case-Control Study.2

Citation

Dessen P

SFMBT1 (Scm like with four mbt domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2004-11-01

Online version: http://atlasgeneticsoncology.org/gene/42951/sfmbt1