Gene Gene information from NCBI Gene database.
Entrez ID 2737
Gene name GLI family zinc finger 3
Gene symbol GLI3
Synonyms (NCBI Gene)
ACLSGCPSGLI3-190GLI3FLPAP-APAPAPAPA1PAPBPHSPPDIV
Chromosome 7
Chromosome location 7p14.1
Summary This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene l
SNPs SNP information provided by dbSNP.
86
SNP ID Visualize variation Clinical significance Consequence
rs28933372 C>G Pathogenic Missense variant, coding sequence variant
rs34245321 C>A,G,T Conflicting-interpretations-of-pathogenicity, benign, likely-benign Synonymous variant, coding sequence variant
rs79625212 C>A,T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs116840742 TCGG>- Pathogenic Coding sequence variant, frameshift variant
rs116840743 C>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
477
miRTarBase ID miRNA Experiments Reference
MIRT048909 hsa-miR-93-5p CLASH 23622248
MIRT043590 hsa-miR-148b-3p CLASH 23622248
MIRT043590 hsa-miR-148b-3p CLASH 23622248
MIRT035969 hsa-miR-1301-3p CLASH 23622248
MIRT438838 hsa-miR-200c-3p qRT-PCR 23294929
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
167
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10693759
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12435627, 19084012
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 18298960
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
165240 4319 ENSG00000106571
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10071
Protein name Transcriptional activator GLI3 (GLI3 form of 190 kDa) (GLI3-190) (GLI3 full-length protein) (GLI3FL) [Cleaved into: Transcriptional repressor GLI3R (GLI3 C-terminally truncated form) (GLI3 form of 83 kDa) (GLI3-83)]
Protein function Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activato
PDB 4BLD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 513 540 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 546 570 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 576 601 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 607 632 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium.
Sequence
MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITM
QPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEP
HYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHMTSALSSSPTYPDLPFIRISPHR
NPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISATRGLSPTDAPHAGVSPAEYYHQ
MALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFSSPRLSARPSRKRTLSISPLS
DHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTYSSAPVSLHMH
QQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQNKPTSE
SAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGTTLVKEEGDKDESKQEPEVIYET
NCHWEGCAREFDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRH
TGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRT
H
SNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPEAHVTKKQRGDIHPRPPPPRDSGSHS
QSRSPGRPTQGALGEQQDLSNTTSKREECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPI
SNYSNSGLELPLTDGGSIGDLSAIDETPIMDSTISTATTALALQARRNPAGTKWMEHVKL
ERLKQVNGMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLPGRSDLSGVDVTM
LNMLNRRDSSASTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPIST
DASRRSSEASQSDGLPSLLSLTPAQQYRLKAKYAAATGGPPPTPLPNMERMSLKTRLALL
GDALEPGVALPPVHAPRRCSDGGAHGYGRRHLQPHDAPGHGVRRASDPVRTGSEGLALPR
VPRFSSLSSCNPPAMATSAEKRSLVLQNYTRPEGGQSRNFHSSPCPPSITENVTLESLTM
DADANLNDEDFLPDDVVQYLNSQNQAGYEQHFPSALPDDSKVPHGPGDFDAPGLPDSHAG
QQFHALEQPCPEGSKTDLPIQWNEVSSGSADLSSSKLKCGPRPAVPQTRAFGFCNGMVVH
PQNPLRSGPAGGYQTLGENSNPYGGPEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNR
QPVAPGALDGACGAGIQASKLKSTPMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQ
GYLAHQLLGDSMQHPGAGRPGQQMLGQISATSHINIYQGPESCLPGAHGMGSQPSSLAVV
RGYQPCASFGGSRRQAMPRDSLALQSGQLSDTSQTCRVNGIKMEMKGQPHPLCSNLQNYS
GQFYDQTVGFSQQDTKAGSFSISDASCLLQGTSAKNSELLSPGANQVTSTVDSLDSHDLE
GVQIDFDAIIDDGDHSSLMSGALSPSIIQNLSHSSSRLTTPRASLPFPALSMSTTNMAIG
DMSSLLTSLAEESKFLAVMQ
Sequence length 1580
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cAMP signaling pathway
Hedgehog signaling pathway
Pathways in cancer
Basal cell carcinoma
  GLI3 is processed to GLI3R by the proteasome
Hedgehog 'off' state
Hedgehog 'on' state
GLI proteins bind promoters of Hh responsive genes to promote transcription
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2410
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of prenatal development or birth Pathogenic rs121917709 RCV001836708
GLI3-related disorder Pathogenic; Likely pathogenic rs2128705618, rs2484374381, rs1562656975, rs2484638597, rs2484371899, rs1382875512, rs2484380066, rs2484361638, rs121917709, rs121917714, rs1375768446, rs780256503, rs1057520063 RCV004733380
RCV003335857
RCV004528642
RCV004534302
RCV004536757
RCV004528057
RCV004529263
RCV004527966
RCV004528110
RCV004732544
RCV004532036
RCV004532025
RCV005863137
Greig cephalopolysyndactyly syndrome Likely pathogenic; Pathogenic rs2128738764, rs2128705693, rs2128709888, rs2128705042, rs2128705420, rs781422192, rs2128710014, rs2128712235, rs2128732074, rs2128742651, rs2128741200, rs2128705618, rs2128705204, rs148043302, rs2128742642
View all (68 more)
RCV001379344
RCV001388671
RCV001385743
RCV001450017
RCV001450029
RCV001450018
RCV002501578
RCV001450020
RCV001450027
RCV001450023
RCV001730107
RCV005225496
RCV001918776
RCV001924251
RCV001894291
RCV001888445
RCV002042151
RCV001935371
RCV001895418
RCV002227906
RCV002255230
RCV002470432
RCV002820371
RCV002889144
RCV002847628
RCV002871660
RCV002871086
RCV002898865
RCV002872385
RCV002877275
RCV002907614
RCV002938784
RCV003008916
RCV000014833
RCV000014835
RCV000014837
RCV000014840
RCV000014842
RCV000014844
RCV000014845
RCV003806113
RCV003806840
RCV003805564
RCV003803344
RCV003801235
RCV003804681
RCV003802161
RCV003813457
RCV003815627
RCV003813149
RCV003985969
RCV003986033
RCV003991530
RCV004557280
RCV000634034
RCV000503394
RCV000549394
RCV000534797
RCV000814115
RCV000627064
RCV000634035
RCV000634032
RCV000634030
RCV000686853
RCV000701080
RCV000700476
RCV000796308
RCV000806324
RCV000822914
RCV000799089
RCV000856781
RCV000987864
RCV001056604
RCV001047710
RCV001054833
RCV001036674
RCV001063154
RCV001071422
RCV001041488
RCV001221370
RCV001223594
RCV001248778
RCV001255861
Greig cephalopolysyndactyly syndrome, severe Pathogenic rs28933372 RCV000030896
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs78280303 RCV005891193
Cholangiocarcinoma Benign rs846265 RCV005918471
Congenital diaphragmatic hernia risk factor rs780263938 RCV000578089
Congenital hypothalamic hamartoma syndrome Conflicting classifications of pathogenicity; Uncertain significance rs772839719, rs376725882, rs1554304659 RCV000764715
RCV000764716
RCV000764714
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Absence of Tibia Associate 37626311
Acrocephalopolysyndactyly Type II Associate 21326280
Adenocarcinoma of Lung Associate 25103784, 26647728
Agenesis of Corpus Callosum Associate 32591344, 35436645
Alzheimer Disease Associate 28577822
Anodontia Associate 23549991, 24278334
Anophthalmos with limb anomalies Associate 32591344
Arthropathy progressive pseudorheumatoid of childhood Associate 10441570
Autistic Disorder Associate 31010437
Bone Diseases Associate 31399769