GLI3 (GLI family zinc finger 3)

2003-02-01  

Identity

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

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

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

References

Pubmed IDYearTitleCitations
163714612006Evidence for the direct involvement of {beta}TrCP in Gli3 protein processing.122
167051812006Multisite protein kinase A and glycogen synthase kinase 3beta phosphorylation leads to Gli3 ubiquitination by SCFbetaTrCP.96
180570992008Wnt canonical pathway restricts graded Shh/Gli patterning activity through the regulation of Gli3 expression.78
157391542005Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.61
172830822007A novel protein-processing domain in Gli2 and Gli3 differentially blocks complete protein degradation by the proteasome.59
246084272015miR-506 acts as a tumor suppressor by directly targeting the hedgehog pathway transcription factor Gli3 in human cervical cancer.49
174002062007The Shh-independent activator function of the full-length Gli3 protein and its role in vertebrate limb digit patterning.48
125452752003Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.36
195933282009Sonic hedgehog signaling proteins and ATP-binding cassette G2 are aberrantly expressed in diffuse large B-cell lymphoma.35
241746822013Titration of GLI3 repressor activity by sonic hedgehog signaling is critical for maintaining multiple adult neural stem cell and astrocyte functions.35

Citation

Dessen P

GLI3 (GLI family zinc finger 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40719/gli3-(gli-family-zinc-finger-3)