GLI3 (GLI family zinc finger 3)

2003-02-01  

Identity

HGNC
GLI3
LOCATION
7p14.1
LOCUSID
2737
ALIAS
ACLS,GCPS,GLI3-190,GLI3FL,PAP-A,PAPA,PAPA1,PAPB,PHS,PPDIV
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2737
MIM: 165240
HGNC: 4319
Ensembl: ENSG00000106571

Variants:

dbSNP: 2737
ClinVar: 2737
TCGA: ENSG00000106571
COSMIC: GLI3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106571ENST00000395925P10071
ENSG00000106571ENST00000437480F8WEV4
ENSG00000106571ENST00000448703C9J9N4
ENSG00000106571ENST00000479210A0A2R8YGX0
ENSG00000106571ENST00000642432A0A2R8Y6R3
ENSG00000106571ENST00000643264A0A2R8Y723
ENSG00000106571ENST00000647255A0A2R8Y723

Expression (GTEx)

0
5
10
15
20
25
30
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

Pathways

PathwaySourceExternal ID
Hedgehog signaling pathwayKEGGko04340
Basal cell carcinomaKEGGko05217
Hedgehog signaling pathwayKEGGhsa04340
Pathways in cancerKEGGhsa05200
Basal cell carcinomaKEGGhsa05217
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Hedgehog signalingKEGGhsa_M00678
Hedgehog signalingKEGGM00678
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787
GLI3 is processed to GLI3R by the proteasomeREACTOMER-HSA-5610785
Hedgehog 'on' stateREACTOMER-HSA-5632684
GLI proteins bind promoters of Hh responsive genes to promote transcriptionREACTOMER-HSA-5635851

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
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
364110302023Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.6
364110302023Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.6
346109622022GLI3 Is Stabilized by SPOP Mutations and Promotes Castration Resistance via Functional Cooperation with Androgen Receptor in Prostate Cancer.10
351344682022GLI3 and androgen receptor are mutually dependent for their malignancy-promoting activity in ovarian and breast cancer cells.8
352181582022Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.4
355463072022A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.3
359374992022A novel mechanism of regulation of the oncogenic transcription factor GLI3 by toll-like receptor signaling.1
346109622022GLI3 Is Stabilized by SPOP Mutations and Promotes Castration Resistance via Functional Cooperation with Androgen Receptor in Prostate Cancer.10
351344682022GLI3 and androgen receptor are mutually dependent for their malignancy-promoting activity in ovarian and breast cancer cells.8
352181582022Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.4
355463072022A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.3
359374992022A novel mechanism of regulation of the oncogenic transcription factor GLI3 by toll-like receptor signaling.1
325913442021Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.2
326961762021Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis.3
330584472021Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.3

Citation

Dessen P

GLI3 (GLI family zinc finger 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40719/img/favicon/welcome