SP6 (Sp6 transcription factor)

2016-10-01  

Identity

HGNC
SP6
LOCATION
17q21.32
LOCUSID
80320
ALIAS
EPFN,EPIPROFIN,KLF14

Other Information

Locus ID:

NCBI: 80320
MIM: 608613
HGNC: 14530
Ensembl: ENSG00000189120

Variants:

dbSNP: 80320
ClinVar: 80320
TCGA: ENSG00000189120
COSMIC: SP6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189120ENST00000342234Q3SY56
ENSG00000189120ENST00000536300Q3SY56

Expression (GTEx)

0
5
10
15
20
25
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
336529412021A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta.4
340120612021Novel prostate cancer susceptibility gene SP6 predisposes patients to aggressive disease.5
336529412021A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta.4
340120612021Novel prostate cancer susceptibility gene SP6 predisposes patients to aggressive disease.5
321675582020A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.10
321675582020A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.10
253442552014Epiprofin orchestrates epidermal keratinocyte proliferation and differentiation.15
253442552014Epiprofin orchestrates epidermal keratinocyte proliferation and differentiation.15

Citation

Dessen P

SP6 (Sp6 transcription factor)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56341