Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84662
Gene name Gene Name - the full gene name approved by the HGNC.	GLIS family zinc finger 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GLIS2
Synonyms (NCBI Gene) Gene synonyms aliases	NKL, NPHP7
Disease Acronyms (UniProt) Disease acronyms from UniProt database	NPHP7
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 ne

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144447862	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150071733	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs587777353	T>C	Pathogenic	Missense variant, coding sequence variant
rs753999588	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs878855335	G>T	Pathogenic	Splice donor variant

Show/Hide all(216)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050468	hsa-miR-22-3p	CLASH	23622248
MIRT755863	hsa-miR-3142	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC), RNA pull down assay	36574090
MIRT1021082	hsa-miR-1	CLIP-seq
MIRT1021083	hsa-miR-1205	CLIP-seq
MIRT1021084	hsa-miR-1275	CLIP-seq
MIRT1021085	hsa-miR-1293	CLIP-seq
MIRT1021086	hsa-miR-1321	CLIP-seq
MIRT1021087	hsa-miR-1324	CLIP-seq
MIRT1021088	hsa-miR-137	CLIP-seq
MIRT1021089	hsa-miR-1468	CLIP-seq
MIRT1021090	hsa-miR-1909	CLIP-seq
MIRT1021091	hsa-miR-192	CLIP-seq
MIRT1021092	hsa-miR-19a	CLIP-seq
MIRT1021093	hsa-miR-19b	CLIP-seq
MIRT1021094	hsa-miR-200b	CLIP-seq
MIRT1021095	hsa-miR-200c	CLIP-seq
MIRT1021096	hsa-miR-206	CLIP-seq
MIRT1021097	hsa-miR-214	CLIP-seq
MIRT1021098	hsa-miR-215	CLIP-seq
MIRT1021099	hsa-miR-22	CLIP-seq
MIRT1021100	hsa-miR-27a	CLIP-seq
MIRT1021101	hsa-miR-27b	CLIP-seq
MIRT1021102	hsa-miR-2861	CLIP-seq
MIRT1021103	hsa-miR-29a	CLIP-seq
MIRT1021104	hsa-miR-29b	CLIP-seq
MIRT1021105	hsa-miR-29c	CLIP-seq
MIRT1021106	hsa-miR-3126-5p	CLIP-seq
MIRT1021107	hsa-miR-3150a-3p	CLIP-seq
MIRT1021108	hsa-miR-3175	CLIP-seq
MIRT1021109	hsa-miR-3190	CLIP-seq
MIRT1021110	hsa-miR-3202	CLIP-seq
MIRT1021111	hsa-miR-323-5p	CLIP-seq
MIRT1021112	hsa-miR-329	CLIP-seq
MIRT1021113	hsa-miR-340	CLIP-seq
MIRT1021114	hsa-miR-34a	CLIP-seq
MIRT1021115	hsa-miR-34c-5p	CLIP-seq
MIRT1021116	hsa-miR-3619-5p	CLIP-seq
MIRT1021117	hsa-miR-362-3p	CLIP-seq
MIRT1021118	hsa-miR-362-5p	CLIP-seq
MIRT1021119	hsa-miR-3673	CLIP-seq
MIRT1021120	hsa-miR-3680	CLIP-seq
MIRT1021121	hsa-miR-3689d	CLIP-seq
MIRT1021122	hsa-miR-3690	CLIP-seq
MIRT1021123	hsa-miR-371-3p	CLIP-seq
MIRT1021124	hsa-miR-3918	CLIP-seq
MIRT1021125	hsa-miR-4254	CLIP-seq
MIRT1021126	hsa-miR-4257	CLIP-seq
MIRT1021127	hsa-miR-4258	CLIP-seq
MIRT1021128	hsa-miR-429	CLIP-seq
MIRT1021129	hsa-miR-4291	CLIP-seq
MIRT1021130	hsa-miR-4299	CLIP-seq
MIRT1021131	hsa-miR-4300	CLIP-seq
MIRT1021132	hsa-miR-4419a	CLIP-seq
MIRT1021133	hsa-miR-4436b-3p	CLIP-seq
MIRT1021134	hsa-miR-4447	CLIP-seq
MIRT1021135	hsa-miR-4472	CLIP-seq
MIRT1021136	hsa-miR-4483	CLIP-seq
MIRT1021137	hsa-miR-449a	CLIP-seq
MIRT1021138	hsa-miR-449b	CLIP-seq
MIRT1021139	hsa-miR-450b-5p	CLIP-seq
MIRT1021140	hsa-miR-4510	CLIP-seq
MIRT1021141	hsa-miR-4512	CLIP-seq
MIRT1021142	hsa-miR-4521	CLIP-seq
MIRT1021143	hsa-miR-4525	CLIP-seq
MIRT1021144	hsa-miR-4533	CLIP-seq
MIRT1021145	hsa-miR-4650-5p	CLIP-seq
MIRT1021146	hsa-miR-4659a-5p	CLIP-seq
MIRT1021147	hsa-miR-4659b-5p	CLIP-seq
MIRT1021148	hsa-miR-4665-5p	CLIP-seq
MIRT1021149	hsa-miR-4701-5p	CLIP-seq
MIRT1021150	hsa-miR-4710	CLIP-seq
MIRT1021151	hsa-miR-4723-5p	CLIP-seq
MIRT1021152	hsa-miR-4739	CLIP-seq
MIRT1021153	hsa-miR-4751	CLIP-seq
MIRT1021154	hsa-miR-4755-3p	CLIP-seq
MIRT1021155	hsa-miR-4756-5p	CLIP-seq
MIRT1021156	hsa-miR-4776-3p	CLIP-seq
MIRT1021157	hsa-miR-4786-3p	CLIP-seq
MIRT1021158	hsa-miR-4787-5p	CLIP-seq
MIRT1021159	hsa-miR-486-3p	CLIP-seq
MIRT1021160	hsa-miR-492	CLIP-seq
MIRT1021161	hsa-miR-500b	CLIP-seq
MIRT1021162	hsa-miR-502-5p	CLIP-seq
MIRT1021163	hsa-miR-513a-5p	CLIP-seq
MIRT1021164	hsa-miR-541	CLIP-seq
MIRT1021165	hsa-miR-549	CLIP-seq
MIRT1021166	hsa-miR-558	CLIP-seq
MIRT1021167	hsa-miR-588	CLIP-seq
MIRT1021168	hsa-miR-613	CLIP-seq
MIRT1021169	hsa-miR-615-5p	CLIP-seq
MIRT1021170	hsa-miR-625	CLIP-seq
MIRT1021171	hsa-miR-649	CLIP-seq
MIRT1021172	hsa-miR-654-5p	CLIP-seq
MIRT1021173	hsa-miR-761	CLIP-seq
MIRT1021174	hsa-miR-767-5p	CLIP-seq
MIRT1021175	hsa-miR-891b	CLIP-seq
MIRT1021176	hsa-miR-920	CLIP-seq
MIRT1021177	hsa-miR-922	CLIP-seq
MIRT1021178	hsa-miR-939	CLIP-seq
MIRT1021083	hsa-miR-1205	CLIP-seq
MIRT2002540	hsa-miR-1266	CLIP-seq
MIRT2002541	hsa-miR-1271	CLIP-seq
MIRT1021084	hsa-miR-1275	CLIP-seq
MIRT1021086	hsa-miR-1321	CLIP-seq
MIRT1021087	hsa-miR-1324	CLIP-seq
MIRT1021090	hsa-miR-1909	CLIP-seq
MIRT2002542	hsa-miR-21	CLIP-seq
MIRT1021099	hsa-miR-22	CLIP-seq
MIRT2002543	hsa-miR-2355-5p	CLIP-seq
MIRT2002544	hsa-miR-2392	CLIP-seq
MIRT1021102	hsa-miR-2861	CLIP-seq
MIRT2002545	hsa-miR-3065-3p	CLIP-seq
MIRT1021106	hsa-miR-3126-5p	CLIP-seq
MIRT2002546	hsa-miR-3127-3p	CLIP-seq
MIRT2002547	hsa-miR-3127-5p	CLIP-seq
MIRT1021107	hsa-miR-3150a-3p	CLIP-seq
MIRT2002548	hsa-miR-3154	CLIP-seq
MIRT1021108	hsa-miR-3175	CLIP-seq
MIRT2002549	hsa-miR-3188	CLIP-seq
MIRT2002550	hsa-miR-3194-5p	CLIP-seq
MIRT1021111	hsa-miR-323-5p	CLIP-seq
MIRT2002551	hsa-miR-342-5p	CLIP-seq
MIRT1021114	hsa-miR-34a	CLIP-seq
MIRT1021115	hsa-miR-34c-5p	CLIP-seq
MIRT2002552	hsa-miR-3616-3p	CLIP-seq
MIRT2002553	hsa-miR-3667-3p	CLIP-seq
MIRT2002554	hsa-miR-3675-3p	CLIP-seq
MIRT1021121	hsa-miR-3689d	CLIP-seq
MIRT1021123	hsa-miR-371-3p	CLIP-seq
MIRT1021124	hsa-miR-3918	CLIP-seq
MIRT1021126	hsa-miR-4257	CLIP-seq
MIRT2002555	hsa-miR-4270	CLIP-seq
MIRT2002556	hsa-miR-4287	CLIP-seq
MIRT1021129	hsa-miR-4291	CLIP-seq
MIRT1021131	hsa-miR-4300	CLIP-seq
MIRT1021132	hsa-miR-4419a	CLIP-seq
MIRT2002557	hsa-miR-4441	CLIP-seq
MIRT1021134	hsa-miR-4447	CLIP-seq
MIRT2002558	hsa-miR-4469	CLIP-seq
MIRT1021135	hsa-miR-4472	CLIP-seq
MIRT1021137	hsa-miR-449a	CLIP-seq
MIRT1021138	hsa-miR-449b	CLIP-seq
MIRT1021140	hsa-miR-4510	CLIP-seq
MIRT2002559	hsa-miR-4518	CLIP-seq
MIRT1021142	hsa-miR-4521	CLIP-seq
MIRT1021143	hsa-miR-4525	CLIP-seq
MIRT2002560	hsa-miR-4640-5p	CLIP-seq
MIRT2002561	hsa-miR-4664-5p	CLIP-seq
MIRT1021148	hsa-miR-4665-5p	CLIP-seq
MIRT2002562	hsa-miR-4685-3p	CLIP-seq
MIRT1021149	hsa-miR-4701-5p	CLIP-seq
MIRT1021150	hsa-miR-4710	CLIP-seq
MIRT2002563	hsa-miR-4721	CLIP-seq
MIRT1021151	hsa-miR-4723-5p	CLIP-seq
MIRT2002564	hsa-miR-4726-3p	CLIP-seq
MIRT2002565	hsa-miR-4726-5p	CLIP-seq
MIRT1021152	hsa-miR-4739	CLIP-seq
MIRT2002566	hsa-miR-4753-3p	CLIP-seq
MIRT1021154	hsa-miR-4755-3p	CLIP-seq
MIRT1021155	hsa-miR-4756-5p	CLIP-seq
MIRT1021158	hsa-miR-4787-5p	CLIP-seq
MIRT2002567	hsa-miR-4797-3p	CLIP-seq
MIRT1021159	hsa-miR-486-3p	CLIP-seq
MIRT1021164	hsa-miR-541	CLIP-seq
MIRT1021165	hsa-miR-549	CLIP-seq
MIRT1021166	hsa-miR-558	CLIP-seq
MIRT1021167	hsa-miR-588	CLIP-seq
MIRT2002568	hsa-miR-590-5p	CLIP-seq
MIRT2002569	hsa-miR-604	CLIP-seq
MIRT2002570	hsa-miR-619	CLIP-seq
MIRT1021170	hsa-miR-625	CLIP-seq
MIRT2002571	hsa-miR-647	CLIP-seq
MIRT1021172	hsa-miR-654-5p	CLIP-seq
MIRT2002572	hsa-miR-665	CLIP-seq
MIRT2002573	hsa-miR-668	CLIP-seq
MIRT2002574	hsa-miR-765	CLIP-seq
MIRT1021175	hsa-miR-891b	CLIP-seq
MIRT1021176	hsa-miR-920	CLIP-seq
MIRT1021178	hsa-miR-939	CLIP-seq
MIRT2002575	hsa-miR-96	CLIP-seq
MIRT2235559	hsa-miR-3192	CLIP-seq
MIRT1021124	hsa-miR-3918	CLIP-seq
MIRT2235560	hsa-miR-4283	CLIP-seq
MIRT2235561	hsa-miR-4292	CLIP-seq
MIRT1021131	hsa-miR-4300	CLIP-seq
MIRT1021134	hsa-miR-4447	CLIP-seq
MIRT1021135	hsa-miR-4472	CLIP-seq
MIRT2235562	hsa-miR-4492	CLIP-seq
MIRT2235563	hsa-miR-4498	CLIP-seq
MIRT2235564	hsa-miR-4505	CLIP-seq
MIRT2235565	hsa-miR-762	CLIP-seq
MIRT1021176	hsa-miR-920	CLIP-seq
MIRT1021099	hsa-miR-22	CLIP-seq
MIRT1021131	hsa-miR-4300	CLIP-seq
MIRT1021166	hsa-miR-558	CLIP-seq
MIRT1021176	hsa-miR-920	CLIP-seq
MIRT2450359	hsa-miR-4640-3p	CLIP-seq
MIRT2450360	hsa-miR-4715-3p	CLIP-seq
MIRT1021083	hsa-miR-1205	CLIP-seq
MIRT1021090	hsa-miR-1909	CLIP-seq
MIRT1021099	hsa-miR-22	CLIP-seq
MIRT2450359	hsa-miR-4640-3p	CLIP-seq
MIRT2450360	hsa-miR-4715-3p	CLIP-seq
MIRT1021153	hsa-miR-4751	CLIP-seq
MIRT2539429	hsa-miR-4803	CLIP-seq
MIRT1021160	hsa-miR-492	CLIP-seq
MIRT1021166	hsa-miR-558	CLIP-seq
MIRT2539430	hsa-miR-570	CLIP-seq
MIRT1021083	hsa-miR-1205	CLIP-seq
MIRT1021090	hsa-miR-1909	CLIP-seq
MIRT1021099	hsa-miR-22	CLIP-seq
MIRT2450359	hsa-miR-4640-3p	CLIP-seq
MIRT2450360	hsa-miR-4715-3p	CLIP-seq
MIRT1021153	hsa-miR-4751	CLIP-seq
MIRT1021160	hsa-miR-492	CLIP-seq
MIRT1021166	hsa-miR-558	CLIP-seq

Show/Hide all(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0005515	Function	Protein binding	IPI	17289029, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007417	Process	Central nervous system development	IBA	21873635
GO:0016607	Component	Nuclear speck	ISS
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	ISS
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0060994	Process	Regulation of transcription from RNA polymerase II promoter involved in kidney development	IEA
GO:0061005	Process	Cell differentiation involved in kidney development	IEA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0097730	Component	Non-motile cilium	IEA
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
608539	29450	ENSG00000126603

Protein

UniProt ID

Q9BZE0

Protein name

Zinc finger protein GLIS2 (GLI-similar 2) (Neuronal Krueppel-like protein)

Protein function

Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By simila

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	235 → 257	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	263 → 287	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	293 → 317	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in kidney and at low levels in heart, lung and placenta. Expressed in colon. {ECO:0000269|PubMed:11738817, ECO:0000269|PubMed:17289029}.

Sequence

MHSLDEPLDLKLSITKLRAAREKRERTLGVVRPRALHRELGLVDDSPTPGSPGSPPSGFL
LNSKFPEKVEGRFSAAPLVDLSLSPPSGLDSPNGSSSLSPERQGNGDLPPVPSASDFQPL
RYLDGVPSSFQFFLPLGSGGALHLPASSFLTPPKDKCLSPDLPLPKQLVCRWAKCNQLFE
LLQDLVDHVNDYHVKPEKDAGYCCHWEGCARHGRGFNARYKMLIHIRTHTNEKPHRCPTC
SKSFSRLENLKIHNRSHTGEKPYVCPYEGCNKRYSNSSDRFKHTRTHYVDKPYYCKMPGC
HKRYTDPSSLRKHIKAHGHFVSHEQQELLQLRPPPKPPLPAPDGGPYVSGAQIIIPNPAA
LFGGPGLPGLPLPLAPGPLDLSALACGNGGGSGGGGGMGPGLPGPVLPLNLAKNPLLPSP
FGAGGLGLPVVSLLAGAAGGKAEGEKGRGSVPTRALGMEGHKTPLERTESSCSRPSPDGL
PLLPGTVLDLSTGVNSAASSPEALAPGWVVIPPGSVLLKPAVVN

Sequence length

524

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512 View all (59 more)	27793025
Kidney disease	Kidney Diseases, Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	17618285
Megakaryoblastic leukemia without down syndrome	Acute megakaryoblastic leukemia without Down syndrome	rs121917830
Nephronophthisis	Nephronophthisis, Nephronophthisis, familial juvenile, NEPHRONOPHTHISIS 7, Juvenile nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856 View all (190 more)	18227149, 23559409, 17618285

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Diabetes	Diabetes			GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Inhibit	37574724
Caroli Disease	Associate	23559409
Chromosome 7 monosomy	Associate	27114462
Ciliopathies	Associate	21068128, 23559409
Colorectal Neoplasms	Associate	32968054
Fibrosis	Associate	34237252
Leukemia	Associate	31719049, 34768865
Leukemia	Stimulate	36585521
Leukemia Megakaryoblastic Acute	Associate	27094503, 27114462, 28109323, 31719049, 35294081
Leukemia Myeloid Acute	Associate	23407549, 24127550, 28109323, 31719049, 31825998, 32865882, 33811445, 36585521
Lymphoma	Associate	23637834, 31160637, 34768865
Lymphoma Large B Cell Diffuse	Associate	23637834
Neoplasms	Associate	23637834, 37019972
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	28151996, 29746601, 31612466
Stomach Neoplasms	Associate	30320360

GLIS2 (GLIS family zinc finger 2)