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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	64412
Gene name	GDNF inducible zinc finger protein 1
Gene symbol	GZF1
Synonyms (NCBI Gene)	JLSMZBTB23ZNF336
Chromosome	20
Chromosome location	20p11.21

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555786618	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555786729	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

207

Show/Hide all (207)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005048	hsa-let-7b-5p	Microarray	17699775
MIRT047985	hsa-miR-30c-5p	CLASH	23622248
MIRT1039045	hsa-miR-124	CLIP-seq
MIRT1039046	hsa-miR-1244	CLIP-seq
MIRT1039047	hsa-miR-1257	CLIP-seq
MIRT1039048	hsa-miR-1294	CLIP-seq
MIRT1039049	hsa-miR-133a	CLIP-seq
MIRT1039050	hsa-miR-133b	CLIP-seq
MIRT1039051	hsa-miR-142-5p	CLIP-seq
MIRT1039052	hsa-miR-154	CLIP-seq
MIRT1039053	hsa-miR-2115	CLIP-seq
MIRT1039054	hsa-miR-218	CLIP-seq
MIRT1039055	hsa-miR-223	CLIP-seq
MIRT1039056	hsa-miR-299-3p	CLIP-seq
MIRT1039057	hsa-miR-3120-3p	CLIP-seq
MIRT1039058	hsa-miR-3162-3p	CLIP-seq
MIRT1039059	hsa-miR-3166	CLIP-seq
MIRT1039060	hsa-miR-3200-3p	CLIP-seq
MIRT1039061	hsa-miR-330-3p	CLIP-seq
MIRT1039062	hsa-miR-3607-3p	CLIP-seq
MIRT1039063	hsa-miR-3610	CLIP-seq
MIRT1039064	hsa-miR-3611	CLIP-seq
MIRT1039065	hsa-miR-3647-3p	CLIP-seq
MIRT1039066	hsa-miR-3665	CLIP-seq
MIRT1039067	hsa-miR-3672	CLIP-seq
MIRT1039068	hsa-miR-3686	CLIP-seq
MIRT1039069	hsa-miR-3714	CLIP-seq
MIRT1039070	hsa-miR-382	CLIP-seq
MIRT1039071	hsa-miR-3909	CLIP-seq
MIRT1039072	hsa-miR-3910	CLIP-seq
MIRT1039073	hsa-miR-3934	CLIP-seq
MIRT1039074	hsa-miR-3942-5p	CLIP-seq
MIRT1039075	hsa-miR-412	CLIP-seq
MIRT1039076	hsa-miR-421	CLIP-seq
MIRT1039077	hsa-miR-4263	CLIP-seq
MIRT1039078	hsa-miR-4272	CLIP-seq
MIRT1039079	hsa-miR-4281	CLIP-seq
MIRT1039080	hsa-miR-4289	CLIP-seq
MIRT1039081	hsa-miR-4310	CLIP-seq
MIRT1039082	hsa-miR-4328	CLIP-seq
MIRT1039083	hsa-miR-4329	CLIP-seq
MIRT1039084	hsa-miR-4420	CLIP-seq
MIRT1039085	hsa-miR-4436b-3p	CLIP-seq
MIRT1039086	hsa-miR-4436b-5p	CLIP-seq
MIRT1039087	hsa-miR-4453	CLIP-seq
MIRT1039088	hsa-miR-4459	CLIP-seq
MIRT1039089	hsa-miR-4477a	CLIP-seq
MIRT1039090	hsa-miR-4477b	CLIP-seq
MIRT1039091	hsa-miR-4491	CLIP-seq
MIRT1039092	hsa-miR-4538	CLIP-seq
MIRT1039093	hsa-miR-4657	CLIP-seq
MIRT1039094	hsa-miR-4663	CLIP-seq
MIRT1039095	hsa-miR-4687-3p	CLIP-seq
MIRT1039096	hsa-miR-4697-3p	CLIP-seq
MIRT1039097	hsa-miR-4703-5p	CLIP-seq
MIRT1039098	hsa-miR-4704-3p	CLIP-seq
MIRT1039099	hsa-miR-4709-5p	CLIP-seq
MIRT1039100	hsa-miR-4712-3p	CLIP-seq
MIRT1039101	hsa-miR-4729	CLIP-seq
MIRT1039102	hsa-miR-4736	CLIP-seq
MIRT1039103	hsa-miR-488	CLIP-seq
MIRT1039104	hsa-miR-495	CLIP-seq
MIRT1039105	hsa-miR-506	CLIP-seq
MIRT1039106	hsa-miR-512-5p	CLIP-seq
MIRT1039107	hsa-miR-513b	CLIP-seq
MIRT1039108	hsa-miR-520d-5p	CLIP-seq
MIRT1039109	hsa-miR-524-5p	CLIP-seq
MIRT1039110	hsa-miR-548a-5p	CLIP-seq
MIRT1039111	hsa-miR-548ab	CLIP-seq
MIRT1039112	hsa-miR-548ak	CLIP-seq
MIRT1039113	hsa-miR-548b-5p	CLIP-seq
MIRT1039114	hsa-miR-548c-5p	CLIP-seq
MIRT1039115	hsa-miR-548d-5p	CLIP-seq
MIRT1039116	hsa-miR-548h	CLIP-seq
MIRT1039117	hsa-miR-548i	CLIP-seq
MIRT1039118	hsa-miR-548j	CLIP-seq
MIRT1039119	hsa-miR-548k	CLIP-seq
MIRT1039120	hsa-miR-548l	CLIP-seq
MIRT1039121	hsa-miR-548w	CLIP-seq
MIRT1039122	hsa-miR-548y	CLIP-seq
MIRT1039123	hsa-miR-559	CLIP-seq
MIRT1039124	hsa-miR-562	CLIP-seq
MIRT1039125	hsa-miR-576-5p	CLIP-seq
MIRT1039126	hsa-miR-595	CLIP-seq
MIRT1039127	hsa-miR-636	CLIP-seq
MIRT1039128	hsa-miR-648	CLIP-seq
MIRT1039129	hsa-miR-663b	CLIP-seq
MIRT1039130	hsa-miR-665	CLIP-seq
MIRT1039131	hsa-miR-7	CLIP-seq
MIRT1039132	hsa-miR-922	CLIP-seq
MIRT2008062	hsa-miR-1264	CLIP-seq
MIRT2008063	hsa-miR-1290	CLIP-seq
MIRT2008064	hsa-miR-1304	CLIP-seq
MIRT2008065	hsa-miR-1470	CLIP-seq
MIRT2008066	hsa-miR-27a	CLIP-seq
MIRT2008067	hsa-miR-27b	CLIP-seq
MIRT1039057	hsa-miR-3120-3p	CLIP-seq
MIRT2008068	hsa-miR-3126-5p	CLIP-seq
MIRT2008069	hsa-miR-3189-3p	CLIP-seq
MIRT1039062	hsa-miR-3607-3p	CLIP-seq
MIRT1039068	hsa-miR-3686	CLIP-seq
MIRT2008070	hsa-miR-3689a-5p	CLIP-seq
MIRT2008071	hsa-miR-3689b	CLIP-seq
MIRT2008072	hsa-miR-3689e	CLIP-seq
MIRT2008073	hsa-miR-3689f	CLIP-seq
MIRT2008074	hsa-miR-3920	CLIP-seq
MIRT2008075	hsa-miR-3925-3p	CLIP-seq
MIRT2008076	hsa-miR-4286	CLIP-seq
MIRT2008077	hsa-miR-432	CLIP-seq
MIRT2008078	hsa-miR-4443	CLIP-seq
MIRT1039088	hsa-miR-4459	CLIP-seq
MIRT2008079	hsa-miR-4667-3p	CLIP-seq
MIRT2008080	hsa-miR-4679	CLIP-seq
MIRT1039098	hsa-miR-4704-3p	CLIP-seq
MIRT2008081	hsa-miR-4712-5p	CLIP-seq
MIRT1039102	hsa-miR-4736	CLIP-seq
MIRT2008082	hsa-miR-4775	CLIP-seq
MIRT1039104	hsa-miR-495	CLIP-seq
MIRT2008083	hsa-miR-5096	CLIP-seq
MIRT2008084	hsa-miR-513a-5p	CLIP-seq
MIRT2008085	hsa-miR-548c-3p	CLIP-seq
MIRT2008086	hsa-miR-624	CLIP-seq
MIRT2008087	hsa-miR-642a	CLIP-seq
MIRT2008088	hsa-miR-770-5p	CLIP-seq
MIRT1039057	hsa-miR-3120-3p	CLIP-seq
MIRT2008068	hsa-miR-3126-5p	CLIP-seq
MIRT2240727	hsa-miR-3140-3p	CLIP-seq
MIRT2240728	hsa-miR-3156-3p	CLIP-seq
MIRT1039059	hsa-miR-3166	CLIP-seq
MIRT2240729	hsa-miR-3183	CLIP-seq
MIRT2008069	hsa-miR-3189-3p	CLIP-seq
MIRT1039061	hsa-miR-330-3p	CLIP-seq
MIRT2240730	hsa-miR-361-5p	CLIP-seq
MIRT2240731	hsa-miR-3662	CLIP-seq
MIRT2008075	hsa-miR-3925-3p	CLIP-seq
MIRT2240732	hsa-miR-4279	CLIP-seq
MIRT2240733	hsa-miR-4301	CLIP-seq
MIRT2008077	hsa-miR-432	CLIP-seq
MIRT2008078	hsa-miR-4443	CLIP-seq
MIRT1039088	hsa-miR-4459	CLIP-seq
MIRT2240734	hsa-miR-4661-3p	CLIP-seq
MIRT2240735	hsa-miR-4717-3p	CLIP-seq
MIRT2240736	hsa-miR-4723-3p	CLIP-seq
MIRT1039101	hsa-miR-4729	CLIP-seq
MIRT2240737	hsa-miR-4782-5p	CLIP-seq
MIRT2240738	hsa-miR-4802-3p	CLIP-seq
MIRT2240739	hsa-miR-507	CLIP-seq
MIRT1039108	hsa-miR-520d-5p	CLIP-seq
MIRT1039109	hsa-miR-524-5p	CLIP-seq
MIRT2240740	hsa-miR-545	CLIP-seq
MIRT2008085	hsa-miR-548c-3p	CLIP-seq
MIRT2240741	hsa-miR-548p	CLIP-seq
MIRT2240742	hsa-miR-557	CLIP-seq
MIRT2008086	hsa-miR-624	CLIP-seq
MIRT1039130	hsa-miR-665	CLIP-seq
MIRT2240743	hsa-miR-766	CLIP-seq
MIRT1039046	hsa-miR-1244	CLIP-seq
MIRT1039047	hsa-miR-1257	CLIP-seq
MIRT2008062	hsa-miR-1264	CLIP-seq
MIRT2544236	hsa-miR-1278	CLIP-seq
MIRT2544237	hsa-miR-140-5p	CLIP-seq
MIRT2544238	hsa-miR-142-3p	CLIP-seq
MIRT1039056	hsa-miR-299-3p	CLIP-seq
MIRT2544239	hsa-miR-3117-5p	CLIP-seq
MIRT1039057	hsa-miR-3120-3p	CLIP-seq
MIRT2544240	hsa-miR-3128	CLIP-seq
MIRT2544241	hsa-miR-3129-3p	CLIP-seq
MIRT1039060	hsa-miR-3200-3p	CLIP-seq
MIRT2544242	hsa-miR-3545-5p	CLIP-seq
MIRT1039064	hsa-miR-3611	CLIP-seq
MIRT2544243	hsa-miR-3616-5p	CLIP-seq
MIRT1039065	hsa-miR-3647-3p	CLIP-seq
MIRT2544244	hsa-miR-3647-5p	CLIP-seq
MIRT2544245	hsa-miR-3922-5p	CLIP-seq
MIRT1039080	hsa-miR-4289	CLIP-seq
MIRT1039082	hsa-miR-4328	CLIP-seq
MIRT1039087	hsa-miR-4453	CLIP-seq
MIRT2544246	hsa-miR-4460	CLIP-seq
MIRT2544247	hsa-miR-4476	CLIP-seq
MIRT1039091	hsa-miR-4491	CLIP-seq
MIRT1039092	hsa-miR-4538	CLIP-seq
MIRT1039093	hsa-miR-4657	CLIP-seq
MIRT1039100	hsa-miR-4712-3p	CLIP-seq
MIRT2240735	hsa-miR-4717-3p	CLIP-seq
MIRT2544248	hsa-miR-4720-5p	CLIP-seq
MIRT2008082	hsa-miR-4775	CLIP-seq
MIRT2544249	hsa-miR-4799-3p	CLIP-seq
MIRT2544250	hsa-miR-4803	CLIP-seq
MIRT1039103	hsa-miR-488	CLIP-seq
MIRT2544251	hsa-miR-494	CLIP-seq
MIRT1039104	hsa-miR-495	CLIP-seq
MIRT2544252	hsa-miR-505	CLIP-seq
MIRT2544253	hsa-miR-513a-3p	CLIP-seq
MIRT2544254	hsa-miR-573	CLIP-seq
MIRT2008087	hsa-miR-642a	CLIP-seq
MIRT1039129	hsa-miR-663b	CLIP-seq
MIRT1039131	hsa-miR-7	CLIP-seq
MIRT2544255	hsa-miR-888	CLIP-seq
MIRT2008062	hsa-miR-1264	CLIP-seq
MIRT2544237	hsa-miR-140-5p	CLIP-seq
MIRT2544238	hsa-miR-142-3p	CLIP-seq
MIRT2544242	hsa-miR-3545-5p	CLIP-seq
MIRT2544246	hsa-miR-4460	CLIP-seq
MIRT2544247	hsa-miR-4476	CLIP-seq
MIRT2544250	hsa-miR-4803	CLIP-seq
MIRT2544251	hsa-miR-494	CLIP-seq
MIRT2008087	hsa-miR-642a	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16049025
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	16049025
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	16049025
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	16049025
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	16049025
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP	16049025
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	16049025
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	16049025
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
613842	15808	ENSG00000125812

Q9H116

Protein name

GDNF-inducible zinc finger protein 1 (Zinc finger and BTB domain-containing protein 23) (Zinc finger protein 336)

Protein function

Transcriptional repressor that binds the GZF1 responsive element (GRE) (consensus: 5'-TGCGCN[TG][CA]TATA-3'). May be regulating VSX2/HOX10 expression.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	21 → 133	BTB/POZ domain	Domain
PF00096	zf-C2H2	348 → 371	Zinc finger, C2H2 type	Domain
PF13894	zf-C2H2_4	377 → 400		Domain
PF13912	zf-C2H2_6	406 → 431		Domain
PF00096	zf-C2H2	435 → 457	Zinc finger, C2H2 type	Domain
PF13912	zf-C2H2_6	463 → 488		Domain
PF00096	zf-C2H2	491 → 513	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	519 → 541	Zinc finger, C2H2 type	Domain
PF13912	zf-C2H2_6	547 → 572		Domain
PF00096	zf-C2H2	575 → 597	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult brain, heart, skeletal muscle, kidney and liver. Also detected in fetal brain and kidney, and at lower levels in fetal lung and liver. {ECO:0000269|PubMed:14522971}.

Sequence

MESGAVLLESKSSPFNLLHEMHELRLLGHLCDVTVSVEYQGVRKDFMAHKAVLAATSKFF
KEVFLNEKSVDGTRTNVYLNEVQVADFASFLEFVYTAKVQVEEDRVQRMLEVAEKLKCLD
LSETCFQLKKQMLESVLLELQNFSESQEVEVSSGSQVSAAPAPRASVATDGPHPSGLTDS
LDYPGERASNGMSSDLPPKKSKDKLDKKKEVVKPPYPKIRRASGRLAGRKVFVEIPKKKY
TRRLREQQKTAEGDVGDYRCPQDQSPDRVGTEMEQVSKNEGCQAGAELEELSKKAGPEEE
EEEEEEDEEGEKKKSNFKCSICEKAFLYEKSFLKHSKHRHGVATEVVYRCDTCGQTFANR
CNLKSHQRHVHSSERHFPCELCGKKFKRKKDVKRHVLQVHEGGGERHRCGQCGKGLSSKT
ALRLHERTHTGDRPYGCTECGARFSQPSALKTHMRIHTGEKPFVCDECGARFTQNHMLIY
HKRCHTGERPFMCETCGKSFASKEYLKHHNRIHTGSKPFKCEVCFRTFAQRNSLYQHIKV
HTGERPYCCDQCGKQFTQLNALQRHRRIHTGERPFMCNACGRTFTDKSTLRRHTSIHDKN
TPWKSFLVIVDGSPKNDDGHKTEQPDEEYVSSKLSDKLLSFAENGHFHNLAAVQDTVPTM
QENSSADTACKADDSVVSQDTLLATTISELSELTPQTDSMPTQLHSLSNME

Sequence length

711

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Joint laxity, short stature, and myopia	Likely pathogenic; Pathogenic	rs1227208547, rs2123057775, rs1210751666, rs1555786618, rs1555786729	RCV003155407 RCV002251144 RCV002251193 RCV000505270 RCV000505273

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs143775476	RCV005925457
GZF1-related disorder	Benign; Uncertain significance; Likely benign	rs10485644, rs547594353, rs866817750, rs150491728, rs750609719, rs1329900771, rs138315434, rs532203811, rs777850882, rs138617042	RCV003980743 RCV003958428 RCV003401815 RCV003933623 RCV003978701 RCV003926733 RCV004750904 RCV003939096 RCV003983515 RCV003940632
Larsen syndrome	Uncertain significance	rs2514919821	RCV005863714
Sarcoma	Likely benign	rs148077942	RCV005928790
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs143775476	RCV005925456

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Dyskinesia Familial with Facial Myokymia	Associate	28475863
Intra Articular Fractures	Associate	28475863
Joint Dislocations	Associate	28475863
Larsen Syndrome	Associate	28475863
Myopia	Associate	28475863
Retinal Detachment	Associate	28475863

GZF1 (GDNF inducible zinc finger protein 1)