ZIC4 - Zic family member 4 Gene
Species: Homo sapiens
About ZIC4
This gene has 17 transcripts (splice variants), 202 orthologues, 14 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.
Summary
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding Zinc Finger Protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009]
ZIC4 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001168378.1 | NP_001161850.1 | zinc finger protein ZIC 4 isoform 1 precursor |
| NM_001168379.2 | NP_001161851.1 | zinc finger protein ZIC 4 isoform 2 |
| NM_001243256.2 | NP_001230185.1 | zinc finger protein ZIC 4 isoform 4 |
| NM_032153.6 | NP_115529.2 | zinc finger protein ZIC 4 isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
ZIC4 Protein Structure
zf-C2H2_4: C2H2-type zinc finger (143 - 162)
zf-H2C2_2: Zinc-finger double domain (191 - 216)
zf-H2C2_2: Zinc-finger double domain (220 - 247)
zf-C2H2: Zinc finger, C2H2 type (264 - 288)
- 0
- 100
- 200
- 300
- 334 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
zinc finger protein ZIC 4 |
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ZIC4 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P89718 | Zic4 Antibody (YA9062) | WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA | human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Isolated Dandy-Walker Malformation With Hydrocephalus |
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| Isolated Dandy-Walker Malformation Without Hydrocephalus |
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| Fallopian Tube Papillary Adenocarcinoma |
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| Cerebellar Malformation |
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| Visceral Heterotaxy |
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| Choroid Plexus Meningioma |
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| Holoprosencephaly |
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| Intracranial Cavernous Angioma |
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| Intracranial Structure Hemangioma |
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| Blepharophimosis, Ptosis, And Epicanthus Inversus |
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| Ulnar Nerve Lesion |
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| Dandy-Walker Syndrome |
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