ZIC2 - Zic family member 2 Gene

Also Known as HPE5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7546

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16074	ZIC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20352	Zic2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26861	Zic2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ZIC2	NCBI