Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2737
Gene name Gene Name - the full gene name approved by the HGNC.
GLI family zinc finger 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLI3
Synonyms (NCBI Gene) Gene synonyms aliases
ACLS, GCPS, GLI3-190, GLI3FL, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
165240 4319 ENSG00000106571
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Greig Cephalopolysyndactyly Syndrome greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome, severe rs1583728165, rs2128704804, rs1583728402, rs121917711, rs1583500982, rs1787127981, rs121917712, rs28933372, rs121917713, rs1057520063, rs121917714, rs772948115, rs1554317931, rs121917715 N/A
Pallister-Hall Syndrome pallister-hall syndrome rs116840767, rs116840744, rs116840743, rs116840768, rs116840754 N/A
Polydactyly Postaxial polydactyly, type A1/B, polydactyly, postaxial, type a1, Postaxial polydactyly type B rs121917709, rs398122899, rs1057518698, rs1583734240, rs1060499558, rs121917714, rs1375768446, rs1583729398 N/A
Polysyndactyly Polysyndactyly 4 rs121917713, rs1583729562 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Acrocallosal Syndrome acrocallosal syndrome N/A N/A GenCC
Asthma Asthma N/A N/A GWAS
Congenital diaphragmatic hernia congenital diaphragmatic hernia N/A N/A ClinVar
Cronkhite-Canada Syndrome cronkhite-canada syndrome N/A N/A ClinVar
Associations from Text Mining Disease 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