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	7545
Gene name	Zic family zinc finger 1
Gene symbol	ZIC1
Synonyms (NCBI Gene)	BAIDCSCRS6ZICZNF201
Chromosome	3
Chromosome location	3q24
Summary	This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to t

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057517667	C>A	Pathogenic	Stop gained, coding sequence variant
rs1057517668	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057517669	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057517670	G>C	Pathogenic	Missense variant, coding sequence variant
rs1064794698	C>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1576469513	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1576470734	CGGCCGCCAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576470749	->CACCATCGT	Pathogenic	Inframe insertion, coding sequence variant

175

Show/Hide all (175)

miRTarBase ID	miRNA	Experiments
MIRT1513264	hsa-miR-105	CLIP-seq
MIRT1513265	hsa-miR-1179	CLIP-seq
MIRT1513266	hsa-miR-1224-3p	CLIP-seq
MIRT1513267	hsa-miR-1231	CLIP-seq
MIRT1513268	hsa-miR-1260	CLIP-seq
MIRT1513269	hsa-miR-1260b	CLIP-seq
MIRT1513270	hsa-miR-1261	CLIP-seq
MIRT1513271	hsa-miR-1273g	CLIP-seq
MIRT1513272	hsa-miR-1280	CLIP-seq
MIRT1513273	hsa-miR-1289	CLIP-seq
MIRT1513274	hsa-miR-1470	CLIP-seq
MIRT1513275	hsa-miR-1537	CLIP-seq
MIRT1513276	hsa-miR-191	CLIP-seq
MIRT1513277	hsa-miR-194	CLIP-seq
MIRT1513278	hsa-miR-214	CLIP-seq
MIRT1513279	hsa-miR-299-3p	CLIP-seq
MIRT1513280	hsa-miR-3198	CLIP-seq
MIRT1513281	hsa-miR-323b-5p	CLIP-seq
MIRT1513282	hsa-miR-34c-3p	CLIP-seq
MIRT1513283	hsa-miR-3591-3p	CLIP-seq
MIRT1513284	hsa-miR-361-3p	CLIP-seq
MIRT1513285	hsa-miR-3619-5p	CLIP-seq
MIRT1513286	hsa-miR-3671	CLIP-seq
MIRT1513287	hsa-miR-3917	CLIP-seq
MIRT1513288	hsa-miR-3973	CLIP-seq
MIRT1513289	hsa-miR-4294	CLIP-seq
MIRT1513290	hsa-miR-4309	CLIP-seq
MIRT1513291	hsa-miR-4432	CLIP-seq
MIRT1513292	hsa-miR-4491	CLIP-seq
MIRT1513293	hsa-miR-4530	CLIP-seq
MIRT1513294	hsa-miR-4657	CLIP-seq
MIRT1513295	hsa-miR-4666-5p	CLIP-seq
MIRT1513296	hsa-miR-4667-3p	CLIP-seq
MIRT1513297	hsa-miR-4680-5p	CLIP-seq
MIRT1513298	hsa-miR-4694-3p	CLIP-seq
MIRT1513299	hsa-miR-4699-3p	CLIP-seq
MIRT1513300	hsa-miR-4709-3p	CLIP-seq
MIRT1513301	hsa-miR-4729	CLIP-seq
MIRT1513302	hsa-miR-4746-5p	CLIP-seq
MIRT1513303	hsa-miR-4747-5p	CLIP-seq
MIRT1513304	hsa-miR-4760-3p	CLIP-seq
MIRT1513305	hsa-miR-4776-3p	CLIP-seq
MIRT1513306	hsa-miR-4802-3p	CLIP-seq
MIRT1513307	hsa-miR-4803	CLIP-seq
MIRT1513308	hsa-miR-487a	CLIP-seq
MIRT1513309	hsa-miR-487b	CLIP-seq
MIRT1513310	hsa-miR-490-5p	CLIP-seq
MIRT1513311	hsa-miR-494	CLIP-seq
MIRT1513312	hsa-miR-499-5p	CLIP-seq
MIRT1513313	hsa-miR-516b	CLIP-seq
MIRT1513314	hsa-miR-518a-5p	CLIP-seq
MIRT1513315	hsa-miR-520d-5p	CLIP-seq
MIRT1513316	hsa-miR-524-5p	CLIP-seq
MIRT1513317	hsa-miR-527	CLIP-seq
MIRT1513318	hsa-miR-542-3p	CLIP-seq
MIRT1513319	hsa-miR-548a-5p	CLIP-seq
MIRT1513320	hsa-miR-548ab	CLIP-seq
MIRT1513321	hsa-miR-548ak	CLIP-seq
MIRT1513322	hsa-miR-548b-5p	CLIP-seq
MIRT1513323	hsa-miR-548c-5p	CLIP-seq
MIRT1513324	hsa-miR-548d-5p	CLIP-seq
MIRT1513325	hsa-miR-548h	CLIP-seq
MIRT1513326	hsa-miR-548i	CLIP-seq
MIRT1513327	hsa-miR-548j	CLIP-seq
MIRT1513328	hsa-miR-548n	CLIP-seq
MIRT1513329	hsa-miR-548w	CLIP-seq
MIRT1513330	hsa-miR-548y	CLIP-seq
MIRT1513331	hsa-miR-559	CLIP-seq
MIRT1513332	hsa-miR-607	CLIP-seq
MIRT1513333	hsa-miR-653	CLIP-seq
MIRT1513334	hsa-miR-654-3p	CLIP-seq
MIRT1513335	hsa-miR-761	CLIP-seq
MIRT1513336	hsa-miR-889	CLIP-seq
MIRT2154701	hsa-miR-106a	CLIP-seq
MIRT2154702	hsa-miR-106b	CLIP-seq
MIRT2154703	hsa-miR-1263	CLIP-seq
MIRT2154704	hsa-miR-17	CLIP-seq
MIRT2154705	hsa-miR-208a	CLIP-seq
MIRT2154706	hsa-miR-208b	CLIP-seq
MIRT2154707	hsa-miR-20a	CLIP-seq
MIRT2154708	hsa-miR-20b	CLIP-seq
MIRT2154709	hsa-miR-23a	CLIP-seq
MIRT2154710	hsa-miR-23b	CLIP-seq
MIRT2154711	hsa-miR-23c	CLIP-seq
MIRT2154712	hsa-miR-298	CLIP-seq
MIRT2154713	hsa-miR-300	CLIP-seq
MIRT2154714	hsa-miR-30a	CLIP-seq
MIRT2154715	hsa-miR-30b	CLIP-seq
MIRT2154716	hsa-miR-30c	CLIP-seq
MIRT2154717	hsa-miR-30d	CLIP-seq
MIRT2154718	hsa-miR-30e	CLIP-seq
MIRT2154719	hsa-miR-3119	CLIP-seq
MIRT2154720	hsa-miR-3177-5p	CLIP-seq
MIRT2154721	hsa-miR-3609	CLIP-seq
MIRT2154722	hsa-miR-3613-3p	CLIP-seq
MIRT2154723	hsa-miR-3616-5p	CLIP-seq
MIRT2154724	hsa-miR-3647-5p	CLIP-seq
MIRT2154725	hsa-miR-3658	CLIP-seq
MIRT2154726	hsa-miR-381	CLIP-seq
MIRT2154727	hsa-miR-409-3p	CLIP-seq
MIRT2154728	hsa-miR-4325	CLIP-seq
MIRT2154729	hsa-miR-4328	CLIP-seq
MIRT1513291	hsa-miR-4432	CLIP-seq
MIRT2154730	hsa-miR-4463	CLIP-seq
MIRT2154731	hsa-miR-4643	CLIP-seq
MIRT2154732	hsa-miR-4659a-3p	CLIP-seq
MIRT2154733	hsa-miR-4659b-3p	CLIP-seq
MIRT2154734	hsa-miR-466	CLIP-seq
MIRT2154735	hsa-miR-4666-3p	CLIP-seq
MIRT1513298	hsa-miR-4694-3p	CLIP-seq
MIRT1513299	hsa-miR-4699-3p	CLIP-seq
MIRT2154736	hsa-miR-4715-5p	CLIP-seq
MIRT2154737	hsa-miR-4789-3p	CLIP-seq
MIRT2154738	hsa-miR-4789-5p	CLIP-seq
MIRT2154739	hsa-miR-4796-3p	CLIP-seq
MIRT1513312	hsa-miR-499-5p	CLIP-seq
MIRT2154740	hsa-miR-507	CLIP-seq
MIRT2154741	hsa-miR-519d	CLIP-seq
MIRT2154742	hsa-miR-543	CLIP-seq
MIRT1513319	hsa-miR-548a-5p	CLIP-seq
MIRT1513320	hsa-miR-548ab	CLIP-seq
MIRT2154743	hsa-miR-548ah	CLIP-seq
MIRT1513321	hsa-miR-548ak	CLIP-seq
MIRT1513322	hsa-miR-548b-5p	CLIP-seq
MIRT1513323	hsa-miR-548c-5p	CLIP-seq
MIRT1513324	hsa-miR-548d-5p	CLIP-seq
MIRT1513325	hsa-miR-548h	CLIP-seq
MIRT1513326	hsa-miR-548i	CLIP-seq
MIRT1513327	hsa-miR-548j	CLIP-seq
MIRT1513329	hsa-miR-548w	CLIP-seq
MIRT1513330	hsa-miR-548y	CLIP-seq
MIRT2154744	hsa-miR-557	CLIP-seq
MIRT1513331	hsa-miR-559	CLIP-seq
MIRT2154745	hsa-miR-573	CLIP-seq
MIRT2154746	hsa-miR-93	CLIP-seq
MIRT2374786	hsa-miR-15a	CLIP-seq
MIRT2374787	hsa-miR-15b	CLIP-seq
MIRT2374788	hsa-miR-16	CLIP-seq
MIRT2374789	hsa-miR-195	CLIP-seq
MIRT2154714	hsa-miR-30a	CLIP-seq
MIRT2154715	hsa-miR-30b	CLIP-seq
MIRT2154716	hsa-miR-30c	CLIP-seq
MIRT2154717	hsa-miR-30d	CLIP-seq
MIRT2154718	hsa-miR-30e	CLIP-seq
MIRT2374790	hsa-miR-3130-3p	CLIP-seq
MIRT2374791	hsa-miR-3194-3p	CLIP-seq
MIRT2154723	hsa-miR-3616-5p	CLIP-seq
MIRT2154724	hsa-miR-3647-5p	CLIP-seq
MIRT1513286	hsa-miR-3671	CLIP-seq
MIRT2374792	hsa-miR-424	CLIP-seq
MIRT1513298	hsa-miR-4694-3p	CLIP-seq
MIRT1513300	hsa-miR-4709-3p	CLIP-seq
MIRT2374793	hsa-miR-4793-3p	CLIP-seq
MIRT2374794	hsa-miR-497	CLIP-seq
MIRT2154745	hsa-miR-573	CLIP-seq
MIRT2374795	hsa-miR-603	CLIP-seq
MIRT2154705	hsa-miR-208a	CLIP-seq
MIRT2154706	hsa-miR-208b	CLIP-seq
MIRT2154712	hsa-miR-298	CLIP-seq
MIRT2154725	hsa-miR-3658	CLIP-seq
MIRT1513291	hsa-miR-4432	CLIP-seq
MIRT2154730	hsa-miR-4463	CLIP-seq
MIRT1513312	hsa-miR-499-5p	CLIP-seq
MIRT2463989	hsa-miR-199a-5p	CLIP-seq
MIRT2463990	hsa-miR-199b-5p	CLIP-seq
MIRT2463991	hsa-miR-2355-5p	CLIP-seq
MIRT1513283	hsa-miR-3591-3p	CLIP-seq
MIRT2667356	hsa-miR-3155	CLIP-seq
MIRT2667357	hsa-miR-3155b	CLIP-seq
MIRT2667358	hsa-miR-4462	CLIP-seq
MIRT2667359	hsa-miR-4645-5p	CLIP-seq
MIRT2667360	hsa-miR-4673	CLIP-seq
MIRT2667361	hsa-miR-4700-3p	CLIP-seq
MIRT2667362	hsa-miR-484	CLIP-seq
MIRT2667363	hsa-miR-526b	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8542595
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8542595
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007389	Process	Pattern specification process	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007420	Process	Brain development	IDA	8542595
GO:0007420	Process	Brain development	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	ISS
GO:0010467	Process	Gene expression	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	ISS
GO:0042472	Process	Inner ear morphogenesis	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0098727	Process	Maintenance of cell number	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600470	12872	ENSG00000152977

Q15915

Protein name

Zinc finger protein ZIC 1 (Zinc finger protein 201) (Zinc finger protein of the cerebellum 1)

Protein function

Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distr

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18366	zf_ZIC	218 → 264	Zic proteins zinc finger domain	Domain
PF00096	zf-C2H2	302 → 326	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	332 → 356	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	362 → 384	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: CNS. A high level expression is seen in the cerebellum. Detected in the nuclei of the cerebellar granule cell lineage from the progenitor cells of the external germinal layer to the postmigrated cells of the internal granular layer. De

Sequence

MLLDAGPQYPAIGVTTFGASRHHSAGDVAERDVGLGINPFADGMGAFKLNPSSHELASAG
QTAFTSQAPGYAAAAALGHHHHPGHVGSYSSAAFNSTRDFLFRNRGFGDAAAAASAQHSL
FAASAGGFGGPHGHTDAAGHLLFPGLHEQAAGHASPNVVNGQMRLGFSGDMYPRPEQYGQ
VTSPRSEHYAAPQLHGYGPMNVNMAAHHGAGAFFRYMRQPIKQELICKWIEPEQLANPKK
SCNKTFSTMHELVTHVTVEHVGGPEQSNHICFWEECPREGKPFKAKYKLVNHIRVHTGEK
PFPCPFPGCGKVFARSENLKIHKRTHTGEKPFKCEFEGCDRRFANSSDRKKHMHVHTSDK
PYLCKMCDKSYTHPSSLRKHMKVHESSSQGSQPSPAASSGYESSTPPTIVSPSTDNPTTS
SLSPSSSAVHHTAGHSALSSNFNEWYV

Sequence length

447

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Craniosynostosis 6	Pathogenic; Likely pathogenic	rs1057517670, rs2087399510	RCV000412522 RCV001263209
Structural brain anomalies with impaired intellectual development and craniosynostosis	Likely pathogenic; Pathogenic	rs2107994263, rs1057517667, rs1057517668, rs1057517669, rs1576470749	RCV001839308 RCV000412516 RCV000412596 RCV000412649 RCV000991343

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
See cases	Uncertain significance	rs2107994712	RCV002252644
ZIC1-related disorder	Likely benign; Benign; Uncertain significance	rs145610267, rs748925382, rs768803366, rs2473122551, rs759219980, rs143292136, rs142534672, rs142514189	RCV003903463 RCV003958688 RCV003943713 RCV003408458 RCV003944278 RCV003915441 RCV003930848 RCV003958057

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	29378629
Anus Neoplasms	Associate	30060049
Carcinogenesis	Associate	26207911
Carcinoma Hepatocellular	Associate	24782033, 33772101
Cerebellar Diseases	Associate	35997131
Colorectal Neoplasms	Inhibit	21347233, 31392276
Craniosynostoses	Associate	27884935
Dandy Walker Syndrome	Associate	34238780
Dupuytren Contracture	Associate	20676061
Endometrial Neoplasms	Associate	21347233
Gastrointestinal Neoplasms	Inhibit	22799764
Glioblastoma	Associate	34475426
Glioma	Associate	30264483, 34475426
HIV Infections	Associate	26756119
Holoprosencephaly	Associate	17251188
Kidney Neoplasms	Associate	35628134
Laryngeal Neoplasms	Associate	27553089
Liposarcoma	Stimulate	20713527
Lung Neoplasms	Associate	20713527
Lymphoma Non Hodgkin	Associate	34475426
Medulloblastoma	Associate	21347233, 23852775
Mesothelioma Malignant	Associate	24457242
Multiple System Atrophy	Associate	35997131
Neoplasm Metastasis	Associate	33772101
Neoplasms	Associate	15007130, 21347233, 24782033, 27548314, 27553089, 33580586, 35628134, 39969322
Neoplasms	Inhibit	22799764, 24457242, 27572108, 31392276
Non Muscle Invasive Bladder Neoplasms	Associate	26332997
Parkinson Disease	Associate	33319795
Precancerous Conditions	Associate	24128875
Rhabdomyosarcoma	Associate	34285060
Small Cell Lung Carcinoma	Associate	15007130
Squamous Cell Carcinoma of Head and Neck	Associate	27553089
Stomach Neoplasms	Inhibit	22799764
Stomach Neoplasms	Associate	24128875, 26207911
Urinary Bladder Neoplasms	Associate	35123558
Uterine Cervical Dysplasia	Associate	26207911

ZIC1 (Zic family zinc finger 1)