NP_003404.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Calculated MW: 51kDa Molecular Weight: 467
NCBI Official Full Name
zinc finger protein ZIC 3
NCBI Official Synonym Full Names
Zic family member 3
NCBI Protein Information
zinc finger protein ZIC 3
UniProt Protein Name
Zinc finger protein ZIC 3
UniProt Synonym Protein Names
Zinc finger protein 203; Zinc finger protein of the cerebellum 3
UniProt Synonym Gene Names
UniProt Entry Name
ZIC3_HUMAN
NCBI Summary for ZIC3
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]
UniProt Comments for ZIC3
ZIC3: Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'. Defects in ZIC3 are the cause of visceral heterotaxy X- linked type 1 (HTX1). A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of visceral heterotaxy X- linked type 1 include dextrocardia, corrected transposition of great arteries, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis, situs inversus viscerum, and asplenia and/or polysplenia. Defects in ZIC3 are a cause of VACTERL association X- linked with or without hydrocephalus (VACTERLX). A syndrome characterized by vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb). Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement. Belongs to the GLI C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding; Transcription factor; C2H2-type zinc finger protein
Chromosomal Location of Human Ortholog: Xq26.2
Cellular Component: cytoplasm; nucleoplasm; nucleus
Molecular Function: metal ion binding; protein binding; sequence-specific DNA binding; transcription factor activity
Biological Process: anterior/posterior pattern formation; cell differentiation; determination of left/right symmetry; heart looping; lung development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; somatic stem cell maintenance; transcription from RNA polymerase II promoter
Disease: Heterotaxy, Visceral, 1, X-linked; Vacterl Association, X-linked, With Or Without Hydrocephalus
Research Articles on ZIC3
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Pathways associated with anti-ZIC3 antibody
Diseases associated with anti-ZIC3 antibody
Disease Name |
Pubmed Publications |
Congenital Abnormalities Antibodies |
>45 publications with ZIC3 and Congenital Abnormalities |
Heart Defects, Congenital Antibodies |
>28 publications with ZIC3 and Heart Defects, Congenital |
Abnormalities, Multiple Antibodies |
>18 publications with ZIC3 and Abnormalities, Multiple |
Nervous System Diseases Antibodies |
>18 publications with ZIC3 and Nervous System Diseases |
Neural Tube Defects Antibodies |
>16 publications with ZIC3 and Neural Tube Defects |
Nervous System Malformations Antibodies |
>16 publications with ZIC3 and Nervous System Malformations |
Disease Models, Animal Antibodies |
>8 publications with ZIC3 and Disease Models, Animal |
Dextrocardia Antibodies |
>7 publications with ZIC3 and Dextrocardia |
Heterotaxy, visceral, X-linked Antibodies |
>4 publications with ZIC3 and Heterotaxy, visceral, X-linked |
Craniofacial Abnormalities Antibodies |
>4 publications with ZIC3 and Craniofacial Abnormalities |
Organs/Tissues associated with anti-ZIC3 antibody
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