GLI3 - GLI family zinc finger 3 Gene

Also Known as PHS; ACLS; GCPS; PAPA; PAPB; PAP-A; PAPA1; PPDIV; GLI3FL; GLI3-190

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2737

About GLI3

Cytogenetic location: 7p14.1 Genomic coordinates (GRCh38): 7:41,960,949-42,264,268 (from NCBI)

This gene has 13 transcripts (splice variants), 208 orthologues, 14 paralogues and is associated with 13 phenotypes. Broad expression in ovary (RPKM 4.0), endometrium (RPKM 3.1) and 22 other tissues.

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 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, Jul 2008]

GLI3 Products (1)

mRNA	Protein	Name
NM_000168.6	NP_000159.3	transcriptional activator GLI3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	10077605	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	2118997	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	18298960	GOA
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	17331723	GOA
enables histone acetyltransferase binding	IPI IPI: Inferred from physical interaction	10075717	GOA
enables histone deacetylase binding	IDA IDA: Inferred from direct assay	12435627	GOA
enables mediator complex binding	IDA IDA: Inferred from direct assay	17000779	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10564661	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in limb morphogenesis	IMP IMP: Inferred from mutant phenotype	9354785	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12435627	GOA
involved in negative regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	17331723	GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10693759	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12435627	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	17000779	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	18559511	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	24311597	GOA
involved in smoothened signaling pathway	IDA IDA: Inferred from direct assay	31279575	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of GLI-SUFU complex	IPI IPI: Inferred from physical interaction	24311597	GOA
located in cilium	IDA IDA: Inferred from direct assay	16254602	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10077605	GOA
located in cytosol	IDA IDA: Inferred from direct assay	18559511	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10693759	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GLI3 Protein Structure

zf-H2C2_2

zf-C2H2

0
300
600
900
1200
1500
1580 a.a.

Protein Preferred Names	Protein Names
transcriptional activator GLI3	GLI-Kruppel family member GLI3

GLI3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Cross	GLI3	P10071	Zic1	Mus musculus	P46684	Anti Tag CoIP	11238441
Cross	GLI3	P10071	Zic1	Mus musculus	P46684	Pull Down	11238441
Cross	GLI3	P10071	Zic2	Mus musculus	Q62520	Pull Down	11238441
Cross	GLI3	P10071	Spop	Mus musculus	Q6ZWS8	Anti Tag CoIP	19955409
Intra	GLI3	P10071	SUFU	Homo sapiens	Q9UMX1	X-Ray Diffraction	24311597
Intra	GLI3	P10071	SUFU	Homo sapiens	Q9UMX1	Affinity Chrom	35140242
Intra	GLI3	P10071	SUFU	Homo sapiens	Q9UMX1	Pull Down	10564661
Intra	GLI3	P10071	SUFU	Homo sapiens	Q9UMX1	BioID	35140242

Cross: Cross-species interaction Intra: Intraspecies interaction

GLI3 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P82211	GLI3 Antibody (YA1956)	WB, ICC/IF	Human

Related Diseases

Diseases	Alias
Greig Cephalopolysyndactyly Syndrome	GCPS Polysyndactyly With Peculiar Skull Shape Polysyndactyly With Peculiars Skull Shape Greig Syndrome Cephalopolysyndactyly Syndrome Greig Cephalo-Poly-Syndactyly Syndrome Cephalopolysyndactyly, Greig Syndrome Aarskog Syndrome
Polydactyly, Postaxial, Type A1	Postaxial Polydactyly Type A Polydactyly, Postaxial Postaxial Polydactyly PAPA1 Postaxial Polydactyly, Type A Papa Polydactyly, Postaxial, Types A1 And B Postaxial Polydactyly Type B Polydactyly Postaxial Polydactyly, Postaxial A1 Polydactyly, Postaxial B PAPB Postaxial Polydactyly, Type A1/B Polydactyly, Postaxial, Type A Pyogenic Arthritis, Pyoderma Gangrenosum And Acne Postaxial Polydactyly, Type B
Pallister-Hall Syndrome	PHS Hypothalamic Hamartomas Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndrome Hamartoma Of The Hypothalamus Pallister Hall Syndrome Hall-Pallister Syndrome Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly Hamartoma, Hypothalamic
Polydactyly, Preaxial Iv	Polysyndactyly PPD4 Polydactyly, Preaxial, Type Iv Preaxial Polydactyly Type 4 Polysyndactyly, Uncomplicated Polysyndactyly Uncomplicated Crossed Polydactyly Type 1 Polydactyly Preaxial 4 Preaxial Polydactyly 4 Polydactyly, Preaxial 4 Type Iv Preaxial Polydactyly Polysyndactyly Syndrome Syndactyly Of Multiple And Unspecified Sites Syndactyly Of Multiple Digits
Tibial Hemimelia	Tibia, Absence Of Congenital Absence Of Tibia Thm Absence Of Tibia Bilateral Absence Of The Tibia Congenital Aplasia And Dysplasia Of The Tibia With Intact Fibula Congenital Longitudinal Deficiency Of The Tibia Tibial Longitudinal Meromelia Longitudinal Reduction Defect Of Tibia Agenesis Of Tibia Congenital Absence Of Tibia With Or Without Absence Of Some Distal Elements Congenital Absence Of Tibia With Or Without Absence Of Some, But Not All, Distal Elements
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Umbilical Hernia	Hernia, Umbilical
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Holzgreve Syndrome	Holzgreve-Wagner-Rehder Syndrome Holzgreve Wagner Rehder Syndrome Complex Congenital Heart Defect, Renal Agenesis And Cleft Lip And Palate Cleft Palate-Potter Sequence-Congenital Heart Anomalies-Mesoaxial Polydactyly-Multiple Malformations Syndrome
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Mckusick-Kaufman Syndrome	MKKS Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation Hmcs Kaufman-Mckusick Syndrome Hydrometrocolpos Syndrome Hydrometrocolpos-Postaxial Polydactyly Syndrome Kaufman Mckusick Syndrome Mckusick Kaufman Syndrome Mks
Culler-Jones Syndrome	Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome CJS Pallister-Hall Syndrome 2, Formerly Phs2, Formerly Pallister-Hall Syndrome 2 Phs2
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
Holoprosencephaly 9	Pituitary Anomalies With Holoprosencephaly-Like Features HPE9 Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies Holoprosencephaly-9 Holoprosencephaly, Type 9
Orofaciodigital Syndrome Vii	OFD7 Whelan Syndrome Ofds Vii Oral-Facial-Digital Syndrome, Type Vii
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Carpenter Syndrome 1	Carpenter Syndrome Acrocephalopolysyndactyly Type Ii Acps Ii CRPT1 Acrocephalopolysyndactyly Type 2 Acrocephalosyndactyly, Type Ii Acrocephalopolysyndactyly 2 Acps2 Acps 2 Type Ii Acrocephalosyndactyly Carpenter Syndrome, Type 1 Apert-Crouzon Disease
Esophageal Atresia	Tracheoesophageal Fistula Congenital Atresia Of Esophagus Congenital Imperforate Esophagus Imperforate Esophagus Oesophageal Atresia Te Fistula Tef Tracheoesophageal Fistula With Or Without Esophageal Atresia
Anus Disease	Anal Fissure Ulcer Of Anus Anus Diseases Anal Disease Anal Fissure And Fistula Anal Ulcer Fissure In Ano Nontraumatic Tear Of Anus Solitary Anal Ulcer Abnormality Of The Anus Anal Disorders Ulcer Of Anus And Rectum Solitary Ulcer Of Anus Stercoral Ulcer Of Anus
Apert Syndrome	Acrocephalosyndactyly Type I Acs1 Acrocephalosyndactylia Acrocephalosyndactyly Acs I Apert-Crouzon Disease Acrocephalosyndactyly Type 1 Acrocephalosyndactyly, Type I Acs 1 Acrocephalo-Syndactyly Type 1 Syndactylic Oxycephaly Apert'S Syndrome Type I Acrocephalosyndactyly APRS
Basal Cell Nevus Syndrome	Nevoid Basal Cell Carcinoma Syndrome Gorlin Syndrome Nbccs BCNS Gorlin-Goltz Syndrome Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Cerebral Gigantism Jaw Cysts Cramer Niederdellmann Syndrome Gorlin Syndrome Or Gorlin-Goltz Syndrome Naevoid Basal Cell Carcinoma Syndrome
Syndactyly, Type Iv	Syndactyly Type 4 Polysyndactyly, Haas Type SDTY4 Haas Type Syndactyly Sd4 Polysyndactyly Type Haas Syndactyly 4 Polysyndactyly Haas Type Syndactyly Type Iv
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Holoprosencephaly 3	HPE3 Hlp3 Holoprosencephaly-3 Holoprosencephaly, Type 3
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Vacterl Association	Vater Association Vater Syndrome
Laurin-Sandrow Syndrome	Sandrow Syndrome Tetramelic Mirror-Image Polydactyly Mirror-Image Polydactyly Mirror Hands And Feet With Nasal Defects Tmip LSS Mip Mirror Hands And Feets-Nasal Defects Syndrome Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius Miccor Hands And Feet With Nasal Defects Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius Fibula Ulna Duplication Tibia Radius Absence Laurin Sandrow Syndrome Duplication Of Fibula And Ulna With Absence Of Tibia And Radius Segmental Laurin-Sandrow Syndrome Laurin-Sandrow Syndrome, Segmental
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Hypoplastic Or Aplastic Tibia With Polydactyly Absence Of Tibia With Polydactyly Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome THYP Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs With Fibular Dimelia Absent Tibia-Polydactyly Syndrome Werner Mesomelic Syndrome Hypoplastic Tibiae-Postaxial Polydactyly Syndrome Polydactyly With Absent Tibia Werner Mesomelic Spectrum Hypoplasia Or Aplasia Of Tibia With Polydactyly Wms Tibia, Hypoplasia Of, With Polydactyly
Infratentorial Cancer	Infratentorial Neoplasms Brain Neoplasm, Infratentorial Malignant Infratentorial Tumors
Rectal Disease	Rectal Diseases Rectal Disorders
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Feingold Syndrome 1	Feingold Syndrome Oculodigitoesophagoduodenal Syndrome Oded Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum FGLDS1 Mmt Syndrome Brunner-Winter Syndrome Feingold Syndrome Type 1 Oded Moded Fglds Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Moded Syndrome Oculo-Digito-Esophageal-Duodenal Syndrome Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome Microcephaly And Digital Abnormalities With Normal Intelligence Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus, Or Duodenum Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Oculo-Digito-Esophagoduodental Syndrome Fs Mmt Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Brunner-Winter Syndrome Type 1 Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum Type 1 Fs1 Mmt Type 1 Moded Syndrome Type 1 Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 Oded Syndrome Type 1 Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 Feingold Syndrome, Type 1
Bone Development Disease
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Fuhrmann Syndrome Bowing Of The Femurs, Aplasia Or Hypoplasia Of The Fibula, And Digital Anomalies Fibular Hypoplasia Or Aplasia-Femoral Bowing-Oligodactyly Syndrome Fuhrmann-Rieger-De Sousa Syndrome FUHRS Fibular Aplasia Hypoplasia Femoral Bowing And Poly- Syn- And Oligodactyly
Synostosis
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Orofaciodigital Syndrome	Oral-Facial-Digital Syndrome Orofaciodigital Syndromes Ofd Oral Facial Digital Syndromes Oral-Facial-Digital Syndromes Dysplasia Linguofacialis Ofds Oro-Facio-Digital Syndrome Orodigitofacial Dysostosis Orodigitofacial Syndrome Oral Facial Digital Syndrome Orofaciodigital Syndrome I
Acrocapitofemoral Dysplasia	ACFD Dysplasia, Acrocapitofemoral
Skin Tag	Fibroepithelial Polyp Fibroepithelial Polyp Of Skin Soft Fibroma Skin Tags Cutaneous Tag Gardner Fibroma Acrochordon Fibroma Molle
Microphthalmia, Syndromic 3	MCOPS3 Aeg Syndrome Microphthalmia And Esophageal Atresia Syndrome Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-Esophageal-Genital Syndrome Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System Syndromic Microphthalmia 3 Sox2 Anophthalmia Syndrome Anophthalmia Clinical With Associated Anomalies Anophthalmia Esophageal Genital Syndrome Anophthalmia Microphthalmia Esophageal Atresia Syndromic Microphthalmia Type 3 Sox2-Related Eye Disorders Anophthalmia, Clinical, With Associated Anomalies Syndromic Microphthalmia, Type 3 Microphthalmia, Syndromic, 3 Anophthalmia/Microphthalmia-Esophageal Atresia Microphthalmia Syndromic, Type 3
Townes-Brocks Syndrome	Townes Syndrome Renal-Ear-Anal-Radial Syndrome Anus, Imperforate, With Hand, Foot And Ear Anomalies Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome Rear Syndrome Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs Tbs Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs Imperforate Anus With Hand, Foot And Ear Anomalies Anal-Ear-Renal-Radial Malformation Syndrome Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Imperforate Anus-Hand And Foot Anomalies Syndrome Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
Ulnar-Mammary Syndrome	Schinzel Syndrome UMS Pallister Ulnar-Mammary Syndrome Ulnar-Mammary Syndrome Of Pallister
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Kallmann Syndrome 2 Kal2 HH2 Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
Dysostosis	Dysostoses
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Brachydactyly, Type A1	Brachydactyly Type A1 BDA1 Farabee-Type Brachydactyly Farabee Type Brachydactyly Brachydactyly Farabee Type Brachydactyly, Farabee Type Brachydactyly A1 Brachydactyly
Focal Dermal Hypoplasia	Goltz Syndrome Goltz-Gorlin Syndrome FDH FODH Dhof Goltz Gorlin Syndrome Hypoplasia, Dermal, Focal
Joubert Syndrome 32	JBTS32
Saethre-Chotzen Syndrome	SCS Acs3 Acs Iii Chotzen Syndrome Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acrocephalosyndactyly Type 3 Acrocephalosyndactyly, Type Iii Acrocephalosyndactyly Type Iii Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies Auralcephalosyndactyly Acs 3 Acrocephalo-Syndactyly, Type 3 Blepharophimosis,Epicanthus Inversus, And Ptosis 3 Aural Cephalosyndactyly Kurczynski-Casperson Syndrome Acrocephalosyndactyly Iii Dysostosis Craniofacialis With Hypertelorism Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies Sakati Syndrome
Physical Disorder	Physical Illness
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Ohdo Syndrome	Young Simpson Syndrome Ohdo Blepharophimosis Syndrome Blepharophimosis Syndrome Ohdo Type Blepharophimosis Intellectual Disability Syndromes Bmrs Blepharophimosis-Intellectual Disability Syndrome Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth Sbbys Syndrome Say Barber Biesecker Young-Simpson Syndrome Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type Bmrs, Ohdo Type Blepharophimosis Syndrome, Ohdo Type Ohdo-Madokoro-Sonoda Syndrome Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type Blepharophimosis - Intellectual Disability Syndrome
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Opitz-Kaveggia Syndrome	Fg Syndrome Fgs1 Fgs Keller Syndrome OKS Fg Syndrome 1 Fg Syndrome Type 1 Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Majewski Syndrome SRTD6 Srps2a Short Rib-Polydactyly Syndrome, Majewski Type Polydactyly With Neonatal Chondrodystrophy, Type Ii Short Rib-Polydactyly Syndrome Type Iia Short Rib-Polydactyly Syndrome Type 2 Short Rib-Polydactyly Syndrome Type Ii Short Rib-Polydactyly Syndrome, Type Ii Srps, Type Ii Short Rib-Polydactyly Syndrome, Type Iia Polydactyly With Neonatal Chondrodystrophy Type 2 Srps Type 2 Short Rib-Polydactyly Syndrome Majewski Type Polydactyly With Neonatal Chondrodystrophy Type Ii Short Rib-Polydactyly Syndrome 2a Srps Type Ii
Chromosomal Duplication Syndrome
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Orofaciodigital Syndrome Vi	OFD6 Varadi-Papp Syndrome Varadi Syndrome Joubert Syndrome With Orofaciodigital Defect Orofaciodigital Syndrome Type 6 Orofaciodigital Syndrome 6 Oral-Facial-Digital Syndrome, Type Vi Ofds Vi Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation Polydactyly Cleft Lip Palate Psychomotor Retardation Oral-Facial-Digital Syndrome Type 6 Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome Polydactyly - Cleft Lip/Palate - Psychomotor Retardation Váradi Syndrome Váradi-Papp Syndrome Joubert Syndrome With Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome 6 Joubert-Orofaciodigital Syndrome Orofaciodigital Syndrome, Type Vi
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Orofacial Cleft	Cleft, Orofacial
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS05476	GLI3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05482	GLIS3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21349	Gli3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27868	Gli3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29495	Glis3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GLI3	MGD	MGI:95729
Felis catus	GLI3	VGNC	VGNC:62579
Bos taurus	GLI3	VGNC	VGNC:29401
Rattus norvegicus	GLI3	RGD	RGD:620272
Canis familiaris	GLI3	VGNC	VGNC:41258
Macaca mulatta	GLI3	VGNC	VGNC:73071
Others	GLI3	NCBI