Display Settings:

Format

Send to:

Choose Destination

ZIC4 Zic family member 4 [ Homo sapiens (human) ]

Gene ID: 84107, updated on 19-Jul-2014
Official Symbol
ZIC4provided by HGNC
Official Full Name
Zic family member 4provided by HGNC
Primary source
HGNC:20393
See related
Ensembl:ENSG00000174963; HPRD:12340; MIM:608948; Vega:OTTHUMG00000037281
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
See ZIC4 in Epigenomics, MapViewer
Location:
3q24
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (147386048..147406809, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (147103835..147124596, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927866 Neighboring gene ribosomal protein L21 pseudogene 71 Neighboring gene uncharacterized LOC440982 Neighboring gene Zic family member 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-15)

ISCA Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2012-03-15)

ISCA Genome Curation PagePubMed

Markers

Homology

Clone Names

  • FLJ42609, FLJ45833

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
zinc finger protein ZIC 4
Names
zinc finger protein ZIC 4
zinc family member 4 protein HZIC4
zinc finger protein of the cerebellum 4

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009242.1 

    Range
    4812..25573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168378.1NP_001161850.1  zinc finger protein ZIC 4 isoform 1 precursor

    See proteins identical to NP_001161850.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK124600, AK294831, DA066220
    Consensus CDS
    CCDS54652.1
    UniProtKB/Swiss-Prot
    Q8N9L1
    Related
    ENSP00000435509, ENST00000525172
    Conserved Domains (2) summary
    COG5048
    Location:192338
    Blast Score: 143
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:270297
    Blast Score: 93
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001168379.1NP_001161851.1  zinc finger protein ZIC 4 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (2) with a distinct and shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK124600, AK293981, DA066220
    Consensus CDS
    CCDS54653.1
    UniProtKB/Swiss-Prot
    Q8N9L1
    Related
    ENSP00000397695, ENST00000425731
    Conserved Domains (2) summary
    COG5048
    Location:180326
    Blast Score: 143
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:258285
    Blast Score: 92
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001243256.1NP_001230185.1  zinc finger protein ZIC 4 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AK124600, DA102161, DA218617, DA759114
    Consensus CDS
    CCDS58857.1
    UniProtKB/Swiss-Prot
    Q8N9L1
    Conserved Domains (1) summary
    COG5189
    Location:2080
    Blast Score: 100
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
  4. NM_032153.5NP_115529.2  zinc finger protein ZIC 4 isoform 3

    See proteins identical to NP_115529.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream, in-frame start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK056262, AK124600, DA102161
    Consensus CDS
    CCDS43160.1
    UniProtKB/Swiss-Prot
    Q8N9L1
    Related
    ENSP00000372553, OTTHUMP00000215404, ENST00000383075, OTTHUMT00000355504
    Conserved Domains (2) summary
    COG5048
    Location:142288
    Blast Score: 141
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:220247
    Blast Score: 90
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_033118.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks three 5' exons but includes an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AK124600, AK127733, DA106797, DA121447, DA314072
  2. NR_033119.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three 5' exons but includes an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AK124600, AK127733, DA121447, DA314072, DA416382
  3. NR_040762.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks three 5' exons but includes an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AK124600, DA121447, DA411998

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    147386048..147406809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    144480047..144500765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    147066847..147087608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)