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ZIC2 Zic family member 2 [ Homo sapiens (human) ]

Gene ID: 7546, updated on 25-Jul-2015
Official Symbol
ZIC2provided by HGNC
Official Full Name
Zic family member 2provided by HGNC
Primary source
HGNC:HGNC:12873
See related
Ensembl:ENSG00000043355; HPRD:04353; MIM:603073; Vega:OTTHUMG00000017279
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
Also known as
HPE5
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. 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 2008]
Orthologs
See ZIC2 in Epigenomics, MapViewer
Location:
13q32
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (99981772..99986765)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (100634026..100639019)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene citrate lyase beta like Neighboring gene uncharacterized LOC101927437 Neighboring gene Zic family member 5 Neighboring gene long intergenic non-protein coding RNA 554 Neighboring gene NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Holoprosencephaly 5
MedGen: C1864827 OMIM: 609637 GeneReviews: Holoprosencephaly Overview
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
NHGRI GWA Catalog
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.
NHGRI GWA Catalog
  • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
    Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and or...
  • Hedgehog signaling pathway, conserved biosystem (from KEGG)
    Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and or...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
chromatin DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
transcription factor activity, sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
brain development TAS
Traceable Author Statement
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cilium organization IEA
Inferred from Electronic Annotation
more info
 
developmental pigmentation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry IEA
Inferred from Electronic Annotation
more info
 
positive regulation of sequence-specific DNA binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
visual perception ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
zinc finger protein ZIC 2
Names
Zic family member 2 (odd-paired homolog, Drosophila)
Zinc finger protein of the cerebellum 2

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_007085.2 RefSeqGene

    Range
    4708..9701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007129.3NP_009060.2  zinc finger protein ZIC 2

    See identical proteins and their annotated locations for NP_009060.2

    Status: REVIEWED

    Source sequence(s)
    AF188733, AF193855, AL355338
    Consensus CDS
    CCDS9495.1
    UniProtKB/TrEMBL
    A0A024RDY6
    UniProtKB/Swiss-Prot
    O95409
    Related
    ENSP00000365514, OTTHUMP00000018633, ENST00000376335, OTTHUMT00000045618
    Conserved Domains (3) summary
    pfam13465
    Location:349376
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:307327
    ZF_C2H2; Zn binding site [ion binding]
    sd00019
    Location:370387
    ZF_C2H2; Zn binding site [ion binding]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

    Range
    99981772..99986765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521110.1XP_011519412.1  

    See identical proteins and their annotated locations for XP_011519412.1

    Conserved Domains (3) summary
    pfam13465
    Location:349376
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:307327
    ZF_C2H2; Zn binding site [ion binding]
    sd00019
    Location:370387
    ZF_C2H2; Zn binding site [ion binding]

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    100603892..100608865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)