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.	7546
Gene name Gene Name - the full gene name approved by the HGNC.	Zic family zinc finger 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ZIC2
Synonyms (NCBI Gene) Gene synonyms aliases	HPE5
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q32.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of

Show/Hide all(24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs397515364	->C	Pathogenic	Coding sequence variant, frameshift variant
rs397515365	GAGAACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515499	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515500	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs753776168	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs756225250	AGCGGCGGCGGCGGCTGCGGCGGCGGCGGC>-,AGCGGCGGCGGCGGCTGCGGCGGCGGCGGCAGCGGCGGCGGCGGCTGCGGCGGCGGCGGC	Pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs760662121	T>A	Likely-pathogenic	3 prime UTR variant
rs794729641	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886041583	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1060499562	TG>-	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1060499563	C>T	Pathogenic	Coding sequence variant, stop gained
rs1060499564	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794138	CCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1456001894	GG>-,G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555332212	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555332225	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555332361	A>T	Pathogenic	Splice acceptor variant
rs1555332362	CGTTCCAGTGTGAGTTTGAGGGCTGCGACCGGCGCTTCGCCAACAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566405714	AGCACA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1594290376	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1594290658	GGCGGGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594291863	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594291868	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1594292057	G>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048739	hsa-miR-93-5p	CLASH	23622248
MIRT044573	hsa-miR-320a	CLASH	23622248
MIRT618798	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT618797	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT618796	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT618795	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT618794	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT618793	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT618792	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT618791	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	20371350
MIRT067728	hsa-miR-4311	PAR-CLIP	20371350
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT067729	hsa-miR-6884-3p	PAR-CLIP	21572407
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT737356	hsa-miR-873-3p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), RNA-seq	32555352
MIRT618798	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT618797	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT618796	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT618795	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT618794	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT618793	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT618792	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT618791	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	20371350
MIRT067728	hsa-miR-4311	PAR-CLIP	20371350
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT067729	hsa-miR-6884-3p	PAR-CLIP	21572407
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT756349	hsa-miR-129-5p	Western blotting, qRT-PCR	37294527
MIRT1513337	hsa-miR-1203	CLIP-seq
MIRT1513338	hsa-miR-1271	CLIP-seq
MIRT1513339	hsa-miR-1284	CLIP-seq
MIRT1513340	hsa-miR-1289	CLIP-seq
MIRT1513341	hsa-miR-1292	CLIP-seq
MIRT1513342	hsa-miR-145	CLIP-seq
MIRT1513343	hsa-miR-181a	CLIP-seq
MIRT1513344	hsa-miR-181b	CLIP-seq
MIRT1513345	hsa-miR-181c	CLIP-seq
MIRT1513346	hsa-miR-181d	CLIP-seq
MIRT1513347	hsa-miR-182	CLIP-seq
MIRT1513348	hsa-miR-1908	CLIP-seq
MIRT1513349	hsa-miR-2909	CLIP-seq
MIRT1513350	hsa-miR-297	CLIP-seq
MIRT1513351	hsa-miR-30a	CLIP-seq
MIRT1513352	hsa-miR-30b	CLIP-seq
MIRT1513353	hsa-miR-30c	CLIP-seq
MIRT1513354	hsa-miR-30d	CLIP-seq
MIRT1513355	hsa-miR-30e	CLIP-seq
MIRT1513356	hsa-miR-3115	CLIP-seq
MIRT1513357	hsa-miR-3148	CLIP-seq
MIRT1513358	hsa-miR-3150b-3p	CLIP-seq
MIRT1513359	hsa-miR-3154	CLIP-seq
MIRT1513360	hsa-miR-3162-5p	CLIP-seq
MIRT1513361	hsa-miR-3173-3p	CLIP-seq
MIRT1513362	hsa-miR-3177-3p	CLIP-seq
MIRT1513363	hsa-miR-3179	CLIP-seq
MIRT1513364	hsa-miR-3180	CLIP-seq
MIRT1513365	hsa-miR-3180-3p	CLIP-seq
MIRT1513366	hsa-miR-3180-5p	CLIP-seq
MIRT1513367	hsa-miR-3185	CLIP-seq
MIRT1513368	hsa-miR-3196	CLIP-seq
MIRT1513369	hsa-miR-3202	CLIP-seq
MIRT1513370	hsa-miR-323-3p	CLIP-seq
MIRT1513371	hsa-miR-323-5p	CLIP-seq
MIRT1513372	hsa-miR-337-5p	CLIP-seq
MIRT1513373	hsa-miR-340	CLIP-seq
MIRT1513374	hsa-miR-361-3p	CLIP-seq
MIRT1513375	hsa-miR-3650	CLIP-seq
MIRT1513376	hsa-miR-3653	CLIP-seq
MIRT1513377	hsa-miR-3658	CLIP-seq
MIRT1513378	hsa-miR-3671	CLIP-seq
MIRT1513379	hsa-miR-3679-3p	CLIP-seq
MIRT1513380	hsa-miR-3692	CLIP-seq
MIRT1513381	hsa-miR-3928	CLIP-seq
MIRT1513382	hsa-miR-4262	CLIP-seq
MIRT1513383	hsa-miR-4446-5p	CLIP-seq
MIRT1513384	hsa-miR-4457	CLIP-seq
MIRT1513385	hsa-miR-4463	CLIP-seq
MIRT1513386	hsa-miR-4471	CLIP-seq
MIRT1513387	hsa-miR-4485	CLIP-seq
MIRT1513388	hsa-miR-4495	CLIP-seq
MIRT1513389	hsa-miR-4633-5p	CLIP-seq
MIRT1513390	hsa-miR-4646-5p	CLIP-seq
MIRT1513391	hsa-miR-4659a-3p	CLIP-seq
MIRT1513392	hsa-miR-4659b-3p	CLIP-seq
MIRT1513393	hsa-miR-4672	CLIP-seq
MIRT1513394	hsa-miR-4694-3p	CLIP-seq
MIRT1513395	hsa-miR-4700-3p	CLIP-seq
MIRT1513396	hsa-miR-4706	CLIP-seq
MIRT1513397	hsa-miR-4717-3p	CLIP-seq
MIRT1513398	hsa-miR-4747-5p	CLIP-seq
MIRT1513399	hsa-miR-4749-5p	CLIP-seq
MIRT1513400	hsa-miR-4766-5p	CLIP-seq
MIRT1513401	hsa-miR-4784	CLIP-seq
MIRT1513402	hsa-miR-4789-5p	CLIP-seq
MIRT1513403	hsa-miR-485-3p	CLIP-seq
MIRT1513404	hsa-miR-491-3p	CLIP-seq
MIRT1513405	hsa-miR-494	CLIP-seq
MIRT1513406	hsa-miR-499-3p	CLIP-seq
MIRT1513407	hsa-miR-499a-3p	CLIP-seq
MIRT1513408	hsa-miR-513b	CLIP-seq
MIRT1513409	hsa-miR-520d-5p	CLIP-seq
MIRT1513410	hsa-miR-524-5p	CLIP-seq
MIRT1513411	hsa-miR-543	CLIP-seq
MIRT1513412	hsa-miR-548aa	CLIP-seq
MIRT1513413	hsa-miR-548c-3p	CLIP-seq
MIRT1513414	hsa-miR-564	CLIP-seq
MIRT1513415	hsa-miR-567	CLIP-seq
MIRT1513416	hsa-miR-607	CLIP-seq
MIRT1513417	hsa-miR-663	CLIP-seq
MIRT1513418	hsa-miR-765	CLIP-seq
MIRT1513419	hsa-miR-873	CLIP-seq
MIRT1513420	hsa-miR-876-3p	CLIP-seq
MIRT1513421	hsa-miR-96	CLIP-seq
MIRT1513342	hsa-miR-145	CLIP-seq
MIRT1513350	hsa-miR-297	CLIP-seq
MIRT2154747	hsa-miR-3152-5p	CLIP-seq
MIRT1513366	hsa-miR-3180-5p	CLIP-seq
MIRT1513371	hsa-miR-323-5p	CLIP-seq
MIRT1513375	hsa-miR-3650	CLIP-seq
MIRT2154748	hsa-miR-4666-5p	CLIP-seq
MIRT1513394	hsa-miR-4694-3p	CLIP-seq
MIRT2154749	hsa-miR-4796-5p	CLIP-seq
MIRT1513408	hsa-miR-513b	CLIP-seq
MIRT1513409	hsa-miR-520d-5p	CLIP-seq
MIRT1513410	hsa-miR-524-5p	CLIP-seq
MIRT1513415	hsa-miR-567	CLIP-seq
MIRT1513420	hsa-miR-876-3p	CLIP-seq
MIRT1513343	hsa-miR-181a	CLIP-seq
MIRT1513344	hsa-miR-181b	CLIP-seq
MIRT1513345	hsa-miR-181c	CLIP-seq
MIRT1513346	hsa-miR-181d	CLIP-seq
MIRT1513350	hsa-miR-297	CLIP-seq
MIRT1513371	hsa-miR-323-5p	CLIP-seq
MIRT1513375	hsa-miR-3650	CLIP-seq
MIRT1513382	hsa-miR-4262	CLIP-seq
MIRT2374796	hsa-miR-4432	CLIP-seq
MIRT1513384	hsa-miR-4457	CLIP-seq
MIRT1513394	hsa-miR-4694-3p	CLIP-seq
MIRT1513408	hsa-miR-513b	CLIP-seq
MIRT1513409	hsa-miR-520d-5p	CLIP-seq
MIRT1513410	hsa-miR-524-5p	CLIP-seq
MIRT2374797	hsa-miR-548u	CLIP-seq
MIRT1513415	hsa-miR-567	CLIP-seq
MIRT1513420	hsa-miR-876-3p	CLIP-seq
MIRT2463992	hsa-miR-4282	CLIP-seq
MIRT2463993	hsa-miR-4490	CLIP-seq
MIRT1513413	hsa-miR-548c-3p	CLIP-seq

Show/Hide all(27)

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:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	33961781, 34819669
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0007420	Process	Brain development	TAS	9771712
GO:0007601	Process	Visual perception	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0031490	Function	Chromatin DNA binding	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	ISS

MIM	HGNC	e!Ensembl
603073	12873	ENSG00000043355

Protein

UniProt ID

O95409

Protein name

Zinc finger protein ZIC 2 (Zinc finger protein of the cerebellum 2)

Protein function

Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18366	zf_ZIC	248 → 295	Zic proteins zinc finger domain	Domain
PF00096	zf-C2H2	333 → 357	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	363 → 387	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	393 → 415	Zinc finger, C2H2 type	Domain

Sequence

MLLDAGPQFPAIGVGSFARHHHHSAAAAAAAAAEMQDRELSLAAAQNGFVDSAAAHMGAF
KLNPGAHELSPGQSSAFTSQGPGAYPGSAAAAAAAAALGPHAAHVGSYSGPPFNSTRDFL
FRSRGFGDSAPGGGQHGLFGPGAGGLHHAHSDAQGHLLFPGLPEQHGPHGSQNVLNGQMR
LGLPGEVFGRSEQYRQVASPRTDPYSAAQLHNQYGPMNMNMGMNMAAAAAHHHHHHHHHP
GAFFRYMRQQCIKQELICKWIDPEQLSNPKKSCNKTFSTMHELVTHVSVEHVGGPEQSNH
VCFWEECPREGKPFKAKYKLVNHIRVHTGEKPFPCPFPGCGKVFARSENLKIHKRTHTGE
KPFQCEFEGCDRRFANSSDRKKHMHVHTSDKPYLCKMCDKSYTHPSSLRKHMKVHESSPQ
GSESSPAASSGYESSTPPGLVSPSAEPQSSSNLSPAAAAAAAAAAAAAAAVSAVHRGGGS
GSGGAGGGSGGGSGSGGGGGGAGGGGGGSSGGGSGTAGGHSGLSSNFNEWYV

Sequence length

532

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Holoprosencephaly	holoprosencephaly 5	rs397515499, rs1566405714, rs397515500, rs1594291863, rs794729641, rs1594292057, rs1060499564, rs2053256914, rs1060499563, rs1060499562, rs1555332362, rs397515364, rs1555332361, rs397515365, rs756225250 View all (4 more)	N/A

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32819300
Adenoma	Associate	33423702
Arachnoid Cysts	Associate	30855487
Atrial Fibrillation	Associate	36226239
Autism Spectrum Disorder	Associate	28720872
Breast Neoplasms	Associate	30075825, 33492284, 37596527
Carcinoma Pancreatic Ductal	Associate	26318045
Carcinoma Renal Cell	Associate	39331921
Central Nervous System Vascular Malformations	Associate	17209130, 21940735, 22105922, 22310223
Chromosome Duplication	Associate	22105922
Congenital Abnormalities	Associate	38280885
Dandy Walker Syndrome	Associate	17209130
Endometrial Neoplasms	Associate	34278490
Ependymoma	Associate	34854470
Heredodegenerative Disorders Nervous System	Associate	28720872
Holoprosencephaly	Associate	16199538, 17251188, 19177455, 19431187, 19955556, 20531442, 21638761, 21940735, 21976454, 21995818, 22310223, 22847929, 23276570, 27363716, 30855487
Holoprosencephaly 5	Associate	33557041
Leukemia Myeloid Acute	Associate	30483794
Malformations of Cortical Development Group II	Associate	21940735
Medulloblastoma	Inhibit	17344319
Microcephaly	Associate	30855487
Nasopharyngeal Carcinoma	Associate	27765529, 28338202, 37479694
Neoplasms	Associate	21352556, 37479694
Neoplasms	Inhibit	32209730
Neural Tube Defects	Associate	21940735
Nonsyndromic Holoprosencephaly	Associate	19955556
Pancreatic Neoplasms	Associate	26318045
Paraneoplastic Syndromes	Associate	15880380
Prostatic Neoplasms	Associate	27191985
Prostatic Neoplasms	Inhibit	31640781
Renal Hypodysplasia Nonsyndromic 1	Associate	21940735
Single upper central incisor	Associate	22847929
Small Cell Lung Carcinoma	Associate	10760287, 15880380, 37399175
Spinal Dysraphism	Associate	21940735
Wilms Tumor	Associate	30671724

ZIC2 (Zic family zinc finger 2)