SETD5 (SET domain containing 5)

2014-11-01  

Identity

HGNC
SETD5
LOCATION
3p25.3
LOCUSID
55209
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55209
MIM: 615743
HGNC: 25566
Ensembl: ENSG00000168137

Variants:

dbSNP: 55209
ClinVar: 55209
TCGA: ENSG00000168137
COSMIC: SETD5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168137ENST00000399686H0Y3R4
ENSG00000168137ENST00000402198Q9C0A6
ENSG00000168137ENST00000406341Q9C0A6
ENSG00000168137ENST00000407969E7EWN3
ENSG00000168137ENST00000413704H7C1Q2
ENSG00000168137ENST00000415650F8WD12
ENSG00000168137ENST00000421188H7C1F2
ENSG00000168137ENST00000431285F2Z2J0
ENSG00000168137ENST00000443339F2Z2J0
ENSG00000168137ENST00000468208F2Z2J0
ENSG00000168137ENST00000663774F2Z2J0
ENSG00000168137ENST00000665872F2Z2J0
ENSG00000168137ENST00000666307F2Z2J0
ENSG00000168137ENST00000670063F2Z2J0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
246808892014De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.27
301906122019Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.25
245627692014miR126-5p repression of ALCAM and SetD5 in endothelial cells regulates leucocyte adhesion and transmigration.18
251380992015Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.18
273752342016SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.6
288813852018Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.2
294848502018Genetic variations on SETD5 underlying autistic conditions.2
285492042017SETD5 gene variant associated with mild intellectual disability - a case report.1
313451852019SET domain containing protein 5 (SETD5) enhances tumor cell invasion and is associated with a poor prognosis in non-small cell lung cancer patients.1

Citation

Dessen P

SETD5 (SET domain containing 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73156/setd5