1. Gene
  2. GLIS3 - GLIS family zinc finger 3 Gene

GLIS3 - GLIS family zinc finger 3 Gene

Homo sapiens

Also known as NDH; ZNF515

Gene ID: 169792 | Gene type: protein coding

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

GLIS3 Protein Structure

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (346 - 370)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (399 - 425)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (428 - 455)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (472 - 496)

  • 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

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