ZIC2 - Zic family member 2 Gene

Homo sapiens

Also known as HPE5

Gene ID: 7546 | Gene type: protein coding

About ZIC2

Cytogenetic location: 13q32.3 Genomic coordinates (GRCh38): 13:99,981,784-99,986,765 (from NCBI)

This gene has 5 transcripts (splice variants), 220 orthologues, 14 paralogues and is associated with 8 phenotypes. Biased expression in brain (RPKM 3.1) and testis (RPKM 0.7).

Summary

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 the encoded protein and Other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]

ZIC2 Products(1)

mRNA	Protein	Name
NM_007129.5	NP_009060.2	zinc finger protein ZIC 2

ZIC2 Protein Structure

zf-C2H2_4

zf-H2C2_2

zf-C2H2

0
100
200
300
400
500
532 a.a.

Protein Preferred Names

Protein Names

zinc finger protein ZIC 2

Zic family member 2 (odd-paired homolog, Drosophila)

Related Diseases

Diseases

Alias

Holoprosencephaly 5

HPE5	Holoprosencephaly-5
Holoprosencephaly, Type 5

Semilobar Holoprosencephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Microform Holoprosencephaly

Hpe, Minor Form	Hpe-L
Holoprosencephaly, Minor Form	Holoprosencephaly-Like
Microform Hpe

Midline Interhemispheric Variant Of Holoprosencephaly

Mih	Mih Type Hpe
Mihf	Mihv
Middle Interhemispheric Fusion Variant	Middle Interhemispheric Variant Of Holoprosencephaly
Syntelencephaly

Lobar Holoprosencephaly

Septopreoptic Holoprosencephaly

Septopreoptic Hpe

Alobar Holoprosencephaly

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Holoprosencephaly

Holoprosencephaly Sequence	Hpe
Hpe - [Holoprosencephaly]

Holoprosencephaly 1

Arhinencephaly	HPE1
Cyclopia	Holoprosencephaly, Familial Alobar
Hpe, Familial	Hpec
Demyer Sequence	Holoprosencephaly-1

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Solitary Median Maxillary Central Incisor

SMMCI	Fused Incisors
Single Upper Central Incisor	Single Central Maxillary Incisor
Single Median Maxillary Central Incisor	Solitary Median Maxillary Central Incisor Syndrome
Incisors Fused	Incisors, Fused

Holoprosencephaly 4

HPE4	Holoprosencephaly-4
Holoprosencephaly, Type 4

Holoprosencephaly 3

HPE3	Hlp3
Holoprosencephaly-3	Holoprosencephaly, Type 3

Cerebral Hemisphere Lipoma

Lipoma Of The Cerebral Hemisphere

Corpus Callosum Lipoma

Lipoma Of The Corpus Callosum

Lipoma Of Corpus Callosum

Patau Syndrome

Trisomy 13	Complete Trisomy 13 Syndrome
Trisomy 13 Syndrome	D1 Trisomy
Patau'S Syndrome	Complete Trisomy 13
Chromosome 13, Trisomy 13 Complete	D Trisomy Syndrome
Bartholin-Patau Syndrome	Chromosome 13 Duplication
D1 Trisomy Syndrome	D>1< Trisomy Syndrome
Patau	Chromosome 13 Trisomy
Abnormal Autosomes 13

Central Nervous System Lipoma

Lipoma Of The Cns

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Holoprosencephaly 11

HPE11	Holoprosencephaly-11
Holoprosencephaly, Type 11

Holoprosencephaly 6

HPE6

Holoprosencephaly 7

HPE7	Holoprosencephaly-7
Holoprosencephaly, Type 7

Partington Syndrome

X-Linked Reticulate Pigmentary Disorder	PRTS
Partington X-Linked Mental Retardation Syndrome	Mrxs1
Mrx36	Intellectual Developmental Disorder, X-Linked, Syndromic 1
Partington Disease	Pdr
Partington-Mulley Syndrome	Russell-Silver Syndrome, X-Linked
Mental Retardation, X-Linked, Syndromic 1	Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
Mental Retardation, X-Linked 36	X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
X-Linked Russell-Silver Syndrome	Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
Intellectual Disability, X-Linked, Syndromic 1	Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
Partington X-Linked Intellectual Disability Syndrome	X-Linked Intellectual Deficit-Dystonia-Dysarthria
X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures	Familial Cutaneous Amyloidosis
X-Linked Cutaneous Amyloidosis	Xlpdr
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome	Pigmentary Disorder, Reticulate, With Systemic Manifestations

Holoprosencephaly 8

HPE8	Holoprosencephaly-8

Orofaciodigital Syndrome Viii

Edwards Syndrome	Trisomy 18
Complete Trisomy 18 Syndrome	OFD8
Orofaciodigital Syndrome 8	Trisomy 18 Syndrome
Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis	E3 Trisomy
Oral-Facial-Digital Syndrome Type 8	Orofaciodigital Syndrome Type 8
Ofds Viii	Oral-Facial-Digital Syndrome, Type Viii
Ofd Syndrome 8	Ofds 8
Oral Facial Digital Syndrome 8	Oral Facial Digital Syndrome Type 8
18 Trisomy	Chromosome 18 Trisomy
Trisomy 16-18	Trisomy E
Trisomy E Syndrome	Chromosome 18 Duplication
Oral-Facial-Digital Syndrome, Edwards Type	Orofaciodigital Syndrome, Edwards Type
Chromosome 18, Trisomy	Cleft Lip/Palate With Abnormal Thumbs And Microcephaly
Trisomy 18 Chromosome	Abnormal Autosomes 18

Holoprosencephaly 9

Pituitary Anomalies With Holoprosencephaly-Like Features	HPE9
Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies	Holoprosencephaly-9
Holoprosencephaly, Type 9

Non-Syndromic X-Linked Intellectual Disability 2

Mrx2

Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome	Hfgs
Hfg Syndrome	Hfu Syndrome
HFG	Hfu
Hand Foot Uterus Syndrome	Hand Foot Genital Syndrome

Pallister-Hall Syndrome

PHS	Hypothalamic Hamartomas
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly	Hypothalamic Hamartoblastoma Syndrome
Hamartoma Of The Hypothalamus	Pallister Hall Syndrome
Hall-Pallister Syndrome	Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
Hamartoma, Hypothalamic

Chromosome 18p Deletion Syndrome

18p- Syndrome	De Grouchy Syndrome
Monosomy 18p	18p-
Chromosome 18p Deletion

Synpolydactyly

Syndactyly Type 2	Syndactyly, Type 2
Spd

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

Vacterl Association

Vater Association

Vater Syndrome

Multiple Benign Circumferential Skin Creases On Limbs

Ccsf	Circumferential Skin Creases, Kunze Type
Congenital Circumferential Skin Folds	Kunze-Riehm Syndrome
Kunze Riehm Syndrome	Michelin Tire Baby Syndrome

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Smith-Lemli-Opitz Syndrome

SLOS	Rsh Syndrome
7-Dehydrocholesterol Reductase Deficiency	Slo Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome	Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung	Smith-Opitz-Inborn Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung	Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz Syndrome, Type Ii

Congenital Central Hypoventilation Syndrome

Cchs	Haddad Syndrome
Ondine Curse	Ondine Syndrome
Congenital Central Hypoventilation	Congenital Central Alveolar Hypoventilation Syndrome
Congenital Failure Of Autonomic Control	Ondine'S Curse
Primary Alveolar Hypoventilation	Ondine-Hirschsprung Disease
Central Congenital Hypoventilation Syndrome	Congenital Ondine Curse
Idiopathic Congenital Central Alveolar Hypoventilation	Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
Ondine-Hirschsprung Syndrome

Anencephaly

Aprosencephaly	Anencephalus
Congenital Absence Of Brain	Absence Of A Large Part Of The Brain And The Skull
Anencephalia	Anencephalic Monster
Brain Absence	Brain Agenesis
Brain Aplasia	Absent Brain
Anencephalic	Congenital Absence Of Cerebrum
Congenital Hemicrania	Incomplete Anencephaly

Orofacial Cleft

Cleft, Orofacial

Physical Disorder

Physical Illness

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16074	ZIC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ZIC2	VGNC	VGNC:37185
Felis catus	ZIC2	VGNC	VGNC:102368
Macaca mulatta	ZIC2	VGNC	VGNC:82273
Mus musculus	ZIC2	MGD	MGI:106679
Rattus norvegicus	ZIC2	RGD	RGD:1311174