GRHL3 (grainyhead like transcription factor 3)

2008-12-01  

Identity

HGNC
GRHL3
LOCATION
1p36.11
LOCUSID
57822
ALIAS
SOM,TFCP2L4,VWS2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57822
MIM: 608317
HGNC: 25839
Ensembl: ENSG00000158055

Variants:

dbSNP: 57822
ClinVar: 57822
TCGA: ENSG00000158055
COSMIC: GRHL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158055ENST00000236255Q8TE85
ENSG00000158055ENST00000350501Q8TE85
ENSG00000158055ENST00000356046Q8TE85
ENSG00000158055ENST00000361548Q8TE85
ENSG00000158055ENST00000524724E9PLT6
ENSG00000158055ENST00000528064E9PLG9

Expression (GTEx)

0
50
100
150
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
243608092014Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.61
229319252013Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3.41
270184722016A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.38
228297842012GRHL3/GET1 and trithorax group members collaborate to activate the epidermal progenitor differentiation program.34
125499792003The identification and characterization of human Sister-of-Mammalian Grainyhead (SOM) expands the grainyhead-like family of developmental transcription factors.32
226140192013The Grainyhead transcription factor Grhl3/Get1 suppresses miR-21 expression and tumorigenesis in skin: modulation of the miR-21 target MSH2 by RNA-binding protein DND1.27
270184752016Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.23
260692692015Recent discoveries concerning the involvement of transcription factors from the Grainyhead-like family in cancer.18
287149582017Roles of Grainyhead-like transcription factors in cancer.13
260637912015Identification of a Novel Proto-oncogenic Network in Head and Neck Squamous Cell Carcinoma.12

Citation

Dessen P

GRHL3 (grainyhead like transcription factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50516/grhl3