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GLI3 Gene

protein-coding GIFtS: 68

GC07M041970

GLI family zinc finger 3
(Previous names: Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: GCPS, PHS)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
ACLS ^¹, ², ⁵
GCPS ^²
OTTHUMP00000025248 ^²
OTTHUMP00000159085 ^²
PAP-A ^¹, ²
PAPA ^¹, ², ⁵
PAPA1 ^¹, ²
PAPB ^¹, ², ⁵
PHS ^²
PPDIV ^¹, ²

Descriptions
DNA-binding protein ^²
GLI family zinc finger 3 ^²
GLI-Kruppel family member GLI3 ^¹, ²
Greig cephalopolysyndactyly syndrome ^¹
glioma-associated oncogene family zinc finger 3 ^¹, ²
oncogene GLI3 ^²
zinc finger protein GLI3 ^²

External Ids
HGNC: 4319¹
Entrez Gene: 2737²
UniProtKB: P10071³
Ensembl: ENSG00000106571⁷

Search outside databases for aliases for GLI3 gene

Previous GC identifers: GC07M041650 GC07M041744 GC07M041776

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for GLI3:

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 localizes in the cytoplasm and

activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role

during embryogenesis. Mutations in this gene have been associated with several diseases, including

Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and

postaxial polydactyly types A1 and B. [provided by RefSeq]

UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071

Function: Plays a role in limb and brain development. Implicated in the transduction of SHH signal

(By similarity)

Gene Wiki entry for GLI3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the GLI3 gene

Entrez Gene cytogenetic band: 7p13 Ensembl cytogenetic band: 7p14.1 HGNC cytogenetic band: 7p13

GLI3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M041970: (about GC identifiers)

Start:	41,967,072 bp from pter
End:	42,243,137 bp from pter
Size:	276,066 bases
Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 42,040,400-42,316,454

RefSeq DNA sequence:

NC_000007.12 NT_007819.16 NT_079592.2

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071 (See protein sequence)

Recommended Name: Zinc finger protein GLI3

Size: 1580 amino acids; 169849 Da

Subcellular location: Nucleus

Sequence caution: Sequence=AAA52564.1; Type=Frameshift; Positions=1549;

Secondary accessions: A4D1W1 O75219 Q17RW4 Q75MT0 Q75MU9 Q9UDT5 Q9UJ39

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000159.3

ENSEMBL proteins:

ENSP00000379255 ENSP00000379258

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins and CompoZr ZFN for GLI3
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Gli3)
	Human Recombinant Proteins from Abnova (GLI3)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005634	nucleus	IDA	16254602
GO:0005730	nucleolus	IDA	18029348
GO:0005737	cytoplasm	TAS	10077605
GO:0005929	cilium	IDA	16254602

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Antibodies for GLI3:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for GLI3
	R&D Systems Antibodies for GLI3 (GLI-3)
	Antibodies from Abcam (Gli3), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (GLI3)
	Novus Biologicals Antibodies for GLI3

Assays for GLI3:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P10071

ProtoNet protein and cluster: P10071

1 Blocks protein family: IPB007086 C2H2-type zinc finger signature

UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071

Similarity: Belongs to the GLI C2H2-type zinc-finger protein family

Similarity: Contains 5 C2H2-type zinc fingers

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GLI3)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GLI3)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000168

Applied Biosystems Silencer® siRNAs for GLI3

Sigma-Aldrich siRNA and siRNA Panels for GLI3

Sigma-Aldrich shRNA Panels and shRNA for GLI3

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000168
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000168
untagged cDNA clone in CMV expression vector: NM_000168

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000168

UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071

Function: Plays a role in limb and brain development. Implicated in the transduction of SHH signal

GLI-Kruppel family member GLI3 involved in the development of the CNS,craniofacial

structure,limbs,lung,trachea and oesophagus,with homology to Drosophila segment polarity gene

Cubitus interruptus (CI),more generatly acting both as an activator and a repressor as does CI in

sonic hedgehog signaling,binding CREBBP,also binding to GLT1 promoter and inducing its

transcription in response to SHH

15/23 MGI mutant phenotypes (inferred from 17 alleles) (MGI details for Gli3) (see all 23 ):

	craniofacial	digestive/alimentary	embryogenesis	endocrine/exocrine gland
growth/size	hearing/vestibular/ear	homeostasis/metabolism	lethality-postnatal	lethality-prenatal/perinatal
life span-post-weaning/aging	limbs/digits/tail	nervous system	other	pigmentation

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003682	chromatin binding	IEA	--
GO:0003700	transcription factor activity	TAS	9054938 10077605
GO:0005515	protein binding	IPI	10564661 10806483 11238441
GO:0008270	zinc ion binding	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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4 Sigma-Aldrich "Your Favorite Gene" Pathways for GLI3 (Your Favorite Gene powered by Ingenuity)

Axonal Guidance Signaling
Sonic Hedgehog Signaling
Basal Cell Carcinoma Signaling
Corticotropin Releasing Hormone Signaling

GeneDecks GLI3 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for GLI3

5/8 Interacting proteins for GLI3 (P10071^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 8 )
Interactant Interaction Details
GeneCard External ID(s)
Zic1 Zic1 (xeno) P46684¹^,² EBI-308055, EBI-308006 MINT-14987 MINT-14988
Zic2 Zic2 (xeno) Q62520¹^,² EBI-308055, EBI-308076 MINT-14429 MINT-14430
Zic3 Zic3 (xeno) Q62521¹^,² EBI-308055, EBI-308132 MINT-15590
STK36 Q9NRP7¹ EBI-308055, EBI-863797
SUFU Q9UMX1¹ EBI-308055, EBI-740595
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5/34 Gene Ontology (GO) biological process terms (links to tree view) (see all 34 ):
GO ID Qualified GO term Evidence PubMed IDs
GO:0000060 protein import into nucleus, translocation TAS 10077605
GO:0001656 metanephros development IEA --
GO:0001658 ureteric bud branching IEA --
GO:0006355 regulation of transcription, DNA-dependent IEA --
GO:0007165 signal transduction TAS 10077605
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for GLI3

Sigma-Aldrich Small Molecules for GLI3:

Agonist Inhibitor

Browse Tocris compounds for GLI3
1 Novoseek chemical compound relationship for GLI3 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
zinc	66.12	23	7626222 (3), 9054938 (2), 8688459 (1), 16336945 (1) (see all 17)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GLI3)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GLI3)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000168

Sigma-Aldrich siRNA and siRNA Panels for GLI3

Sigma-Aldrich shRNA Panels and shRNA for GLI3

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000168

REFSEQ mRNAs for GLI3 gene:

NM_000168.5

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000168

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000168
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000168
                                 untagged cDNA clone in CMV expression vector: NM_000168

Additional cDNA sequence:

AK299299.1 AK308429.1 BC032660.2 BC113616.1 BC117168.1 M57609.1

8 DOTS entries:

DT.412849 DT.95140913 DT.70100752 DT.309655 DT.91721200 DT.91746160 DT.92421910 DT.91991149

24/64 AceView cDNA sequences (see all 64 ):

BE221252 BG249639 AU123517 BU627224 CA406166 BQ668725 AA649654 BM552681

BU625637 BM459980 AW953518 BF194991 AI138649 AI863961 AU127370 AI860179

BC032660 BV197662 BX283816 BI915087 AU120131 BU631127 BX426100 BQ447085

highest scoring ESTs for GLI3:

M57609 BF194991 AA176085 AA203238 AA330409 AA418036 AA418124 AA649654 AA649716 AA649736

Unigene Cluster for GLI3:

GLI family zinc finger 3

Hs.21509 [show with all ESTs]

Unigene Representative Sequence: NM_000168

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000395922 ENST00000395925

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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GLI3 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GLI3

¹ / ² / ³

8 probe-sets matching GLI3 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
59780_s_at²^{, 3}	U95-C	1	1.00	1.00	0.95	1.03	AI985269	0.40	1.00	0.76	1
40358_at²^{, 3}	U95-A	1	1.00	1.00	-0.73	0.21	M57609	1.00	1.00	1.00	1
60798_at²^{, 3}	U95-C	1	1.00	1.00	0.98	0.97	AA421712	0.40	1.00	0.76	1
205201_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000168	0.60	1.00	0.82	1
227376_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AW021102	0.20	1.00	0.72	1
205201_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
227376_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1569342_at*²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks GLI3 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
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About these images

CGAP SAGE TAG: TAAATACATT

SOURCE GeneReport for Unigene cluster: Hs.21509
Expression variation in blood from EXPOLDB for GLI3
UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071
Tissue specificity: Is expressed in a wide variety of normal adult tissues, including lung, colon,
spleen, placenta, testis, and myometrium

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for GLI3 gene from 5/12 species (see all 12 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	GLI3¹	--	GLI-Kruppel family member GLI3	86.31(n) 87.17(a)	483244 XM_540363.2 XP_540363.2
chimpanzee (Pan troglodytes)	GLI3¹	--	GLI-Kruppel family member GLI3	99.64(n) 99.75(a)	463369 NM_001034190.1 NP_001029362.1
cow (Bos taurus)	GLI3¹	--	GLI-Kruppel family member GLI3	87.58(n) 88.58(a)	785371 XM_001253425.1 XP_001253426.1
mouse (Mus musculus)	Gli3^{1, 5}	13 (14.00 cM)⁵	GLI-Kruppel family member GLI3^{1, 5}	84.7(n)¹ 86.65(a)¹	14634¹ NM_008130.2¹ NP_032156.2¹ AA413101⁵ AF418601⁵ (see all 19)
chicken (Gallus gallus)	GLI3¹	--	GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly more	76.53(n) 79.63(a)	420769 XM_418866.2 XP_418866.1

About this table Species with no ortholog for GLI3

ENSEMBL Gene Tree for GLI3

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for GLI3 gene

GLI2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/1546 NCBI SNPs in GLI3 are shown (see all 1546 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 593)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs846266^1,2	A,C,F,H	42054747(-)	`ACCCCA/GCTGCT`	1	T/A	mis¹ ese³		20	NA EA MN EU WA	1800
	rs2051935^1,2	A,C,F,H	41970025(-)	`TCCAGC/TTTTTA`	1	--	ut3¹		18	NA PA EU EA WA	1614
	rs3735361^1,2	A,C,F,H	41967449(+)	`CAACAC/TATGAA`	1	--	ut3¹		13	EA EU WA	2710
	rs7805604^1,2	A,C,F,H	41966626(+)	`ACACAA/GGAAAA`	1	--	ng5¹		15	NA EU EA WA	1328
	rs7778774^1,2	A,C,F,H	42244641(+)	`ACCACA/CCAGCC`	1	--	ng3¹		4	EU EA WA	420
	rs12155027^1,2	C,F,H	41966728(+)	`TAGGGC/AATCTC`	1	--	ng5¹		8	EU EA WA	826
	rs929387^1,2	A,C,F	41972203(-)	`TGCGCT/CGGGCC`	1	L/P	mis¹ ese³		3	NA	134
	rs3823720^1,2	C,F,H	41967696(+)	`AAAACA/GTTTAA`	1	--	ut3¹		16	EU EA WA NA	1472
	rs35280470^1,2	C,F	41971189(+)	`CTGCCC/TCCGGG`	1	G/E	mis¹		5	NA EU EA WA	492
	rs35364414^1,2	C,F	41970587(+)	`GAGGCG/AGGAGG`	1	C/R	mis¹		5	NA EU EA WA	496

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HapMap Linkage Disequilibrium images for GLI3 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 165240 disorders: 175700 146510 174700 174200 200990 241800

UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071

Defects in GLI3 are the cause of Greig cephalo-poly-syndactyly syndrome (GCPS)

[MIM:175700]; an autosomal dominant disorder affecting limb and craniofacial development. GCPS is

characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and

hypertelorism

Defects in GLI3 are a cause of Pallister-Hall syndrome (PHS) [MIM:146510]. Pallister-Hall

syndrome is characterized by a wide range of clinical manifestations. It mainly associates central

or postaxial polydactyly, syndactyly, and hypothalamic hamartoma. Malformations are frequent in

the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal

dysplasia. It is an autosomal dominant disorder

Defects in GLI3 are a cause of type A1/B postaxial polydactyly (PAPA1/PAPB) [MIM:174200,

603596]. PAPA in humans is an autosomal dominant trait characterized by an extra digit in the

ulnar and/or fibular side of the upper and/or lower extremities. The extra digit is well formed

and articulates with the fifth, or extra, metacarpal/metatarsal, and thus it is usually functional

Defects in GLI3 are a cause of type IV preaxial polydactyly [MIM:174700]. Preaxial

polydactyly (i.e., polydactyly on the radial/tibial side of the hand/foot) covers a heterogeneous

group of entities. In preaxial polydactyly type IV, the thumb shows only the mildest degree of

duplication, and syndactyly of various degrees affects fingers 3 and 4

Defects in GLI3 are the cause of acrocallosal syndrome (ACS) [MIM:200990]; also

abbreviated ACLS. ACS is characterized by postaxial polydactyly, hallux duplication, macrocephaly,

and absence of the corpus callosum, usually with severe developmental delay

10/16 Novoseek disease relationships for GLI3 gene (see all 16 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
greig cephalopolysyndactyly syndrome	98.44	17	10770668 (1), 7814032 (1), 12794692 (1), 17588959 (1) (see all 17)
pallister-hall syndrome	97.44	17	9192261 (2), 9054938 (2), 18252217 (1), 17588959 (1) (see all 14)
postaxial polydactyly, type a	94.01	5	12734547 (1), 9354785 (1), 10077605 (1), 15390181 (1)
acrocallosal syndrome	89.21	4	17937435 (1), 18154020 (1), 12414818 (1)
polydactyly	87.95	8	10441570 (2), 16865294 (1), 18272352 (1), 9302279 (1) (see all 7)
polydactyly, postaxial	86.46	4	9042919 (1), 10441570 (1), 15778992 (1), 11973619 (1)
syndactyly	76.31	6	15811011 (2), 9302279 (1), 15390181 (1)
anomaly congenital multiple	68.95	2	18241058 (1), 17098889 (1)
hamartoma	67.59	3	18252217 (1), 18478223 (1), 18057317 (1)
developmental delay	61.00	1	15390181 (1)

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GeneTests: GLI3

Greig Cephalopolysyndactyly Syndrome

Human Gene Mutation Database: GLI3
Human Genome Epidemiology Navigator: GLI3 (3 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/142 PubMed articles for GLI3 gene (see all 142 ):

GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity. (PubMed id 2118997)^{1, 2, 3, 4} Ruppert J.M.... Kinzler K.W. (1990)
Point mutations in human GLI3 cause Greig syndrome. (PubMed id 9302279)^{1, 3, 4} Wild A....Grzeschik K.-H. (1997)
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. (PubMed id 12414818)^{1, 3, 4} Elson E.... Black G.C.M. (2002)
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome. (PubMed id 10441342)^{1, 3, 4} Kalff-Suske M.... Grzeschik K.-H. (1999)
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type- A/B; no phenotype prediction from the position of GLI3 mutations. (PubMed id 10441570)^{1, 3, 4} Radhakrishna U.... Antonarakis S.E. (1999)
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. (PubMed id 12794692)^{1, 3, 4} Debeer P....Kalff-Suske M. (2003)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{3, 4} Olsen J.V....Mann M. (2006)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{3, 4} Hillier L.W.... Wilson R.K. (2003)
The GLI-Kruppel family of human genes. (PubMed id 2850480)^{3, 4} Ruppert J.M.... Vogelstein B. (1988)
Multisite protein kinase A and glycogen synthase kinase 3beta phosphorylation leads to Gli3 ubiquitination by SCFbetaTrCP. (PubMed id 16705181)^{1, 3} Tempe D....Concordet J.P. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2737	HGNC: 4319	AceView: GLI3	Ensembl:ENSG00000106571	euGenes: HUgn2737
ECgene: GLI3	H-InvDB: GLI3

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for GLI3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=GLI3

Licensable Technologies for GLI3
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for GLI3:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for GLI3-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for GLI3		Antibodies for GLI3
	Explore super-pooled esiRNAs		Proteins for GLI3
	Lentivirus-delivered shRNAs for GLI3		Small molecules for GLI3
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (GLI3)
	Antibodies (GLI3)
	Chimera RNAi (GLI3)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (Gli3)
	Antibodies (Gli3)

Search OriGene for GLI3

Search Tocris compounds for GLI3

	Drugs for GLI3
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for GLI3

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
GLI3 Gene at Home site.
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GLI3 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for GLI3

Summaries
for GLI3

Genomic Location
for GLI3

Proteins
for GLI3

Protein Domains/
Families
for GLI3

Gene Function
for GLI3

Pathways & Interactions
for GLI3

Drugs & Compounds
for GLI3

Transcripts
for GLI3

Expression
for GLI3

Orthologs
for GLI3

Paralogs
for GLI3

SNPs/Variants
for GLI3

Disorders & Mutations
for GLI3

Medical News
for GLI3

Publications
for GLI3

Search for GLI3

Genome Databases showing GLI3

Other Databases showing GLI3

Specialized Databases showing GLI3

Licensable Technologies
for GLI3

Services
for GLI3

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GLI3 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor GLI3

Summariesfor GLI3

Genomic Locationfor GLI3

Proteinsfor GLI3

Protein Domains/Familiesfor GLI3

Gene Functionfor GLI3

Pathways & Interactionsfor GLI3

Drugs & Compoundsfor GLI3

Transcriptsfor GLI3

Expression for GLI3

Orthologsfor GLI3

Paralogsfor GLI3

SNPs/Variantsfor GLI3

Disorders & Mutationsfor GLI3

Medical Newsfor GLI3

Publicationsfor GLI3

Search for GLI3

Genome Databases showing GLI3

Other Databases showing GLI3

Specialized Databases showing GLI3

Licensable Technologiesfor GLI3

Servicesfor GLI3

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for GLI3

Summaries
for GLI3

Genomic Location
for GLI3

Proteins
for GLI3

Protein Domains/
Families
for GLI3

Gene Function
for GLI3

Pathways & Interactions
for GLI3

Drugs & Compounds
for GLI3

Transcripts
for GLI3

Expression
for GLI3

Orthologs
for GLI3

Paralogs
for GLI3

SNPs/Variants
for GLI3

Disorders & Mutations
for GLI3

Medical News
for GLI3

Publications
for GLI3

Licensable Technologies
for GLI3

Services
for GLI3