ZIC3 - Zic family member 3 Gene
Also Known as HTX; HTX1; ZNF203; VACTERLX
Species: Homo sapiens
About ZIC3
This gene has 3 transcripts (splice variants), 200 orthologues, 14 paralogues and is associated with 6 phenotypes. Low expression observed in reference dataset.
Summary
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]
ZIC3 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001330661.1 | NP_001317590.1 | zinc finger protein ZIC 3 isoform 2 |
| NM_003413.4 | NP_003404.1 | zinc finger protein ZIC 3 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription activator activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
17764085 | GOA |
| enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
17764085 | GOA |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
17764085 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17764085 | GOA |
| enables sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
17764085 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in determination of digestive tract left/right asymmetry |
IMP
IMP: Inferred from mutant phenotype
|
9354794 | GOA |
| involved in determination of left/right symmetry |
IMP
IMP: Inferred from mutant phenotype
|
9354794 | GOA |
| involved in determination of liver left/right asymmetry |
IMP
IMP: Inferred from mutant phenotype
|
9354794 | GOA |
| involved in determination of pancreatic left/right asymmetry |
IMP
IMP: Inferred from mutant phenotype
|
9354794 | GOA |
| involved in heart looping |
IMP
IMP: Inferred from mutant phenotype
|
9354794 | GOA |
| involved in lung development |
IMP
IMP: Inferred from mutant phenotype
|
9354794 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
17764085 | GOA |
ZIC3 Protein Structure
zf-H2C2_2: Zinc-finger double domain (315 - 340)
zf-H2C2_2: Zinc-finger double domain (344 - 371)
zf-C2H2: Zinc finger, C2H2 type (388 - 410)
- 0
- 100
- 200
- 300
- 400
- 467 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
zinc finger protein ZIC 3 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
|
| Heterotaxy, Visceral, 1, X-Linked |
|
|
| Vacterl Association With Hydrocephaly, X-Linked |
|
|
| Visceral Heterotaxy |
|
|
| Isolated Congenitally Uncorrected Transposition Of The Great Arteries |
|
|
| Vacterl Association |
|
|
| Heart Disease |
|
|
| Acrorenal Syndrome |
|
|
| Neural Tube Defects |
|
|
| Double Outlet Right Ventricle |
|
|
| Ventricular Septal Defect |
|
|
| Optic Atrophy 4 |
|
|
| Situs Inversus |
|
|
| Right Atrial Isomerism |
|
|
| Total Anomalous Pulmonary Venous Return 1 |
|
|
| Transposition Of The Great Arteries, Dextro-Looped |
|
|
| Anus, Imperforate |
|
|
| Hydronephrosis |
|
|
| Joubert Syndrome 18 |
|
|
| Pulmonic Stenosis |
|
|
| Dextrocardia |
|
|
| Atrioventricular Septal Defect |
|
|
| Char Syndrome |
|
|
| Duodenal Atresia |
|
|
| Tricuspid Atresia |
|
|
| Hydrocephalus |
|
|
| Nephronophthisis 4 |
|
|
| Heart Septal Defect |
|
|
| Pancreas, Annular |
|
|
| Anus Disease |
|
|
| Pulmonary Valve Stenosis |
|
|
| Nephronophthisis 12 |
|
|
| Pulmonary Valve Disease |
|
|
| Patau Syndrome |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Holt-Oram Syndrome |
|
|
| Orofaciodigital Syndrome Viii |
|
|
| Atrial Heart Septal Defect |
|
|
| Hypoplastic Left Heart Syndrome |
|
|
| Rectal Disease |
|
|
| Pallister-Hall Syndrome |
|
|
| Jacobsen Syndrome |
|
|
| Meckel Syndrome, Type 1 |
|
|
| Esophageal Atresia |
|
|
| Charge Syndrome |
|
|
| Kabuki Syndrome 1 |
|
|
| Vesicoureteral Reflux |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Tetralogy Of Fallot |
|
|
| Cleft Palate, Isolated |
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
|
| Rasopathy |
|
|
| Patent Foramen Ovale |
|
|
| Noonan Syndrome 1 |
|
|
| Williams-Beuren Syndrome |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | ZIC3 | VGNC | VGNC:37186 |
| Mus musculus | ZIC3 | MGD | MGI:106676 |
| Canis familiaris | ZIC3 | VGNC | VGNC:48634 |
| Macaca mulatta | ZIC3 | VGNC | VGNC:104710 |
| Rattus norvegicus | ZIC3 | RGD | RGD:1561261 |
| Felis catus | ZIC3 | VGNC | VGNC:67247 |
| Others | ZIC3 | NCBI |