SMYD1 (SET and MYND domain containing 1)

2007-04-01  

Identity

HGNC
SMYD1
LOCATION
2p11.2
LOCUSID
150572
ALIAS
BOP,KMT3D,ZMYND18,ZMYND22

Other Information

Locus ID:

NCBI: 150572
MIM: 606846
HGNC: 20986
Ensembl: ENSG00000115593

Variants:

dbSNP: 150572
ClinVar: 150572
TCGA: ENSG00000115593
COSMIC: SMYD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115593ENST00000419482Q8NB12
ENSG00000115593ENST00000438570C9JUP3
ENSG00000115593ENST00000444564E9PHG3

Expression (GTEx)

0
50
100
150
200
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
256444302015SMYD1 and G6PD modulation are critical events for miR-206-mediated differentiation of rhabdomyosarcoma.19
191620392009Hepatoma-derived growth factor represses SET and MYND domain containing 1 gene expression through interaction with C-terminal binding protein.13
128585322002Molecular mechanisms of ventricular hypoplasia.3
267997062016SMYD1, an SRF-Interacting Partner, Is Involved in Angiogenesis.2
302056372019A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient.2
299568482018SMYD1 is the underlying gene for the AnWj-negative blood group phenotype.0

Citation

Dessen P

SMYD1 (SET and MYND domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47425/smyd1