GLIS3 - GLIS family zinc finger 3 Gene

Also Known as NDH; ZNF515

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 169792

About GLIS3

Cytogenetic location: 9p24.2 Genomic coordinates (GRCh38): 9:3,824,127-4,490,465 (from NCBI)

This gene has 24 transcripts (splice variants), 197 orthologues, 14 paralogues and is associated with 3 phenotypes. Biased expression in thyroid (RPKM 8.8), gall bladder (RPKM 2.6) and 13 other tissues.

Summary

This gene is a member of the GLI-similar Zinc Finger Protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]

GLIS3 Products (2)

mRNA	Protein	Name
NM_001042413.2	NP_001035878.1	zinc finger protein GLIS3 isoform a
NM_152629.4	NP_689842.3	zinc finger protein GLIS3 isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	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

GLIS3 Protein Structure

zf-C2H2_4

zf-H2C2_2

zf-C2H2

0
200
400
600
775 a.a.

Protein Preferred Names	Protein Names
zinc finger protein GLIS3	GLI-similar 3

Related Diseases

Diseases	Alias
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Neonatal Diabetes Mellitus With Congenital Hypothyroidism Ndh Syndrome NDH Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome
Neonatal Diabetes	Neonatal Diabetes Mellitus Diabetes Mellitus Syndrome In Newborn Infant Ndm
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Permanent Neonatal Diabetes Mellitus	Pndm Permanent Diabetes Mellitus Of Infancy Pdmi Neonatal Diabetes Mellitus, Permanent
Diabetes Mellitus	Diabetes
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Wolcott-Rallison Syndrome Med-Iddm Syndrome Iddm-Med Syndrome Wolcott Rallison Syndrome WRS Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus
Primary Angle-Closure Glaucoma	Primary Angle Closure Glaucoma Angle Closure Glaucoma Acg - [Angle Closure Glaucoma] Angle-Closure Glaucoma Closed Angle Glaucoma Acute Glaucoma Prodromal Angle Closure Glaucoma
Pancreatic Agenesis	Partial Pancreatic Agenesis Congenital Pancreatic Agenesis Partial Agenesis Of The Pancreas Agenesis, Pancreatic Pancreatic Agenesis, Congenital
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Maturity-Onset Diabetes Of The Young, Type 10	Maturity-Onset Diabetes Of The Young Type 10 MODY10 Maturity-Onset Diabetes Of The Young 10 Mody-10 Mody Type 10 Diabetes Of The Young, Maturity-Onset, Type 10
Hypothyroidism, Congenital, Nongoitrous, 1	Tsh Resistance CHNG1 Hypothyroidism Due To Tsh Receptor Mutations Thyrotropin Resistance Thyroid-Stimulating Hormone Rtsh Hypothyroidism Due To Unresponsiveness To Thyrotropin Congenital Nongoitrous Hypothyroidism 1 Thyroid-Stimulating Hormone, Resistance To Hypothyroidism, Nonautoimmune Hypothyroidism, Congenital, Due To Tsh Resistance Hypothyroidism, Congenital, Non-Goitrous, 1 Congenital Hypothyroidism Due To Tsh Resistance Non-Autoimmune Hypothyroidism Thyroid-Stimulating Hormone Resistance Hypothyroidism, Congenital, Nongoitrous, Type 1 Hypothyroidism, Congenital, Nongoitrous, 3 Thyroid Hormone Resistance Syndrome
Thiamine-Responsive Megaloblastic Anemia Syndrome	TRMA Rogers Syndrome Thiamine-Responsive Myelodysplasia Thiamine-Responsive Anemia Syndrome Thiamine Metabolism Dysfunction Syndrome 1 Thmd1 Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness Thiamine Responsive Megaloblastic Anemia Syndrome Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia Thiamine-Responsive Anaemia Syndrome Thiamine-Responsive Megaloblastic Anaemia Syndrome Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss
Intestinal Atresia
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-Onset Diabetes Of The Young Type 1 MODY1 Mild Juvenile Diabetes Mellitus Mody, Type I Diabetes Mellitus Type 2 Mody Type 1 Mody, Type 1 Maturity-Onset Diabetes Of The Young 1 Mody-1 Diabetes Of The Young, Maturity-Onset, Type 1
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-Onset Diabetes Of The Young Type 3 MODY3 Mody, Type Iii Mody Type 3 Mody, Type 3 Maturity-Onset Diabetes Of The Young 3 Mody-3 Diabetes Of The Young, Maturity-Onset, Type 3
Wolfram Syndrome	Didmoad Syndrome Didmoad Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Wfs Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness Didmoadud Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Fibrolamellar Carcinoma	Fibrolamellar Hepatocellular Carcinoma Fhcc Fibrolamellar Hepatocarcinoma Hepatocellular Carcinoma, Fibrolamellar Oncocytic Hepatocellular Tumor Eosinophilic Glassy Cell Hepatoma Eosinophilic Hepatocellular Carcinoma With Lamellar Fibrosis Fl-Hcc Fibrolamellar Oncocytic Hepatoma Hepatocellular Carcinoma With Increased Stromal Fibrosis Polygonal Cell Hepatocellular Carcinoma With Fibrous Stroma
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant

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.	Product Name	Effect	Purity	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
Canis familiaris	GLIS3	VGNC	VGNC:41263
Mus musculus	GLIS3	MGD	MGI:2444289
Rattus norvegicus	GLIS3	RGD	RGD:1565505
Felis catus	GLIS3	VGNC	VGNC:102933
Others	GLIS3	NCBI