GLIS2 - GLIS family zinc finger 2 Gene

Homo sapiens

Also known as NKL; NPHP7

Gene ID: 84662 | Gene type: protein coding

About GLIS2

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:4,314,761-4,339,595 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 253 orthologues, 14 paralogues and is associated with 4 phenotypes. Broad expression in kidney (RPKM 14.7), lung (RPKM 9.3) and 23 other tissues.

Summary

This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]

GLIS2 Products(2)

mRNA	Protein	Name
NM_001318918.2	NP_001305847.1	zinc finger protein GLIS2
NM_032575.3	NP_115964.2	zinc finger protein GLIS2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17289029	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	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

GLIS2 Protein Structure

zf-H2C2_2

zf-C2H2

0
100
200
300
400
524 a.a.

Protein Preferred Names

Protein Names

zinc finger protein GLIS2

GLI-similar 2

Related Diseases

Diseases

Alias

Nephronophthisis 7

NPHP7

Nephronophthisis, Type 7

Acute Megakaryoblastic Leukemia Without Down Syndrome

Non-Ds-Amkl

Juvenile Nephronophthisis

Nephronophthisis

Nephronophthisis, Familial Juvenile

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Childhood Acute Megakaryoblastic Leukemia

Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia

Myeloid Leukemia Associated With Down Syndrome

Kidney Disease

Renal Failure	Kidney Failure
Kidney Diseases	Nephropathy
Abnormality Of The Kidney	Impaired Renal Function Disease
Renal Anomaly	Kidney Dysfunction
Renal Disease	Nephropathies
Renal Failure Adverse Event	Abnormal Renal Function

End Stage Renal Disease

End Stage Renal Failure	End-Stage Kidney Disease
Kidney Failure, Chronic	Chronic Kidney Disease Stage 5

Nephronophthisis 15

NPHP15

Nephronophthisis, Type 15

Nephronophthisis 20

NPHP20

Cd3zeta Deficiency

Nephronophthisis 19

NPHP19

Nephronophthisis, Type 19

Childhood Acute Myeloid Leukemia

Childhood Acute Myeloid Leukaemia	Paediatric Acute Myeloid Leukaemia
Pediatric Acute Myeloid Leukemia

Aggressive Nk-Cell Leukemia

Aggressive Nk-Cell Leukaemia	Large Granular Lymphocyte Leukemia, Nk-Cell Type
Natural Killer Cell Leukaemia	Natural Killer Cell Leukemia
Aggressive Nk Cell Leukemia	Ankl
Aggressive Natural Killer Cell Leukemia	Ankcl
Aggressive Nk-Cell Lymphoma	Nk-Cell Lgl Leukemia
Nk-Cell Large Granular Lymphocyte Leukemia	Abnormality Of The Ankles
Aggressive Natural Killer-Cell Leukemia	Leukemia, Large Granular Lymphocytic
Leukemia, Natural Killer Cell Large Granular Lymphocytic

Nephronophthisis 2

NPHP2	Nph2
Nephronophthisis 2, Infantile	Infantile Nephronophthisis 2
Infantile Nephronophthisis	Nephronophthisis, Type 2

Acute Megakaryocytic Leukemia

Acute Megakaryoblastic Leukemia	Acute Megakaryoblastic Leukaemia
Megakaryocytic Myelosis	Thrombocytic Leukaemia
Amkl	Aml M7
Acute Myeloblastic Leukemia Type 7	Acute Myeloid Leukemia M7
Megakaryoblastic Leukemia Acute	Leukemia, Megakaryoblastic, Acute
Acute Myeloid Leukaemia, M7	Acute Megakaryocytic Leukaemia
Acute Megakaryoblastic Leukaemia, Fab M7	Fab M7
Malignant Megakaryocytosis	M7 - Acute Megakaryoblastic Leukaemia
Megakaryoblastic Leukaemia	Megakaryocytic Leukaemia
Acute Megakaryoblastic Leukaemia, Nos	Acute Megakaryoblastic Leukaemia Without Mention Of Remission

Hypertrichosis Universalis Congenita, Ambras Type

Ambras Syndrome	Hypertrichosis, Congenital Generalized
HTC1	HTC2
Chromosome Xq27.1 Interchromosomal Insertion Syndrome	Cgh
Hcg	Ambras Type Hypertrichosis Universalis Congenita
X-Linked Congenital Generalized Hypertrichosis	Congenital Generalized Hypertrichosis, Macias-Flores Type
Macias Flores-Garcia Cruz-Rivera Syndrome	Htc 1
Hypertrichosis Universalis Congenita Ambras Type	Hypertrichosis Congenital Generalized X-Linked
Macias-Flores Garcia-Cruz Rivera Syndrome	Congenital Generalized Hypertrichosis, Ambras Type

Myeloproliferative Syndrome, Transient

Transient Abnormal Myelopoiesis	Transient Myeloproliferative Syndrome
Transient Myeloproliferative Disease	Mst
Tam	Leukemia, Transient, Of Down Syndrome
Tmd	Leukemia, Transient
Transient Leukemia	Transient Leukemia Of Down Syndrome

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease	Arpkd
Polycystic Kidney Disease, Autosomal Recessive	Polycystic Kidney And Hepatic Disease 1
Pkhd1	PKD4
Polycystic Kidney Disease 4 With Or Without Hepatic Disease	Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney Disease, Infantile Type	Polycystic Kidney, Autosomal Recessive
Pkd3, Formerly	Polycystic Kidney Disease 4, With Or Without Hepatic Disease
Arpkd/Chf	Ar-Pkd
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease	Infantile Polycystic Kidney Disease Type I
Pkd3	Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
Polycystic Kidney Disease 3, Autosomal Dominant

Cystic Kidney Disease

Renal Cyst	Simple Renal Cyst
Kidney Cysts	Kidney Diseases, Cystic
Renal Cysts	Kidney Cyst
Cystic Kidney	Congenital Cystic Kidney Disease
Cystic Kidney Diseases	Bosniak 1 Cyst

Senior-Loken Syndrome 1

Senior-Loken Syndrome	Renal Dysplasia And Retinal Aplasia
Renal-Retinal Syndrome	Loken-Senior Syndrome
Juvenile Nephronophthisis With Leber Amaurosis	SLSN1
Senior-Loken Syndrome-1	Loken Senior Syndrome
Senior Loken Syndrome	Renal Dysplasia Retinal Aplasia
Nephronophthisis With Retinal Dystrophy	Renal Dysplasia-Retinal Aplasia Syndrome
Slsn

Polycystic Kidney Disease

Polycystic Kidney Diseases	Pkd
Polycystic Renal Disease	Kidney Disease, Polycystic
Polycystic Kidney, Autosomal Dominant

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

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13901	GANT 61		≥98.0%	Unkown
HY-137567	Prostaglandin E1 ethanolamide	Activator	/	Unkown
HY-RS05475	GLI2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS05481	GLIS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GLIS2	RGD	RGD:1309177
Felis catus	GLIS2	VGNC	VGNC:62581
Bos taurus	GLIS2	VGNC	VGNC:29407
Canis familiaris	GLIS2	VGNC	VGNC:41262
Macaca mulatta	GLIS2	VGNC	VGNC:73031
Mus musculus	GLIS2	MGD	MGI:1932535

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