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Protein

Zinc finger protein ZIC 2

Gene

ZIC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3'. Associates to the basal SERT promoter region from ventrotemporal retinal segments of retinal embryos.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri256 – 291C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST36
Zinc fingeri300 – 327C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST28
Zinc fingeri333 – 357C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri363 – 387C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri393 – 415C2H2-type 5PROSITE-ProRule annotationAdd BLAST23

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding, Repressor
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
O95409

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O95409

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger protein ZIC 2
Alternative name(s):
Zinc finger protein of the cerebellum 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ZIC2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000043355.10

Human Gene Nomenclature Database

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HGNCi
HGNC:12873 ZIC2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603073 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O95409

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Holoprosencephaly 5 (HPE5)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.
See also OMIM:609637
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02379336Q → P in HPE5; 2-fold increase in luciferase activity. 2 Publications1
Natural variantiVAR_05859237D → N in HPE5. 1 Publication1
Natural variantiVAR_058593128D → N in HPE5. 1 Publication1
Natural variantiVAR_023794152D → F in HPE5; requires 2 nucleotide substitutions; 50% reduction of luciferase activity. 3 Publications1
Natural variantiVAR_058594272S → N in HPE5. 1 Publication1
Natural variantiVAR_058595286H → L in HPE5. 1 Publication1
Natural variantiVAR_058596286H → Q in HPE5. 1 Publication1
Natural variantiVAR_058597286H → Y in HPE5. 1 Publication1
Natural variantiVAR_058598291H → Y in HPE5. 1 Publication1
Natural variantiVAR_058599304W → R in HPE5. 1 Publication1
Natural variantiVAR_058600314F → C in HPE5. 1 Publication1
Natural variantiVAR_058601325R → L in HPE5. 1 Publication1
Natural variantiVAR_058602325R → S in HPE5. 1 Publication1
Natural variantiVAR_058603327H → Y in HPE5. 1 Publication1
Natural variantiVAR_058604335C → F in HPE5. 1 Publication1
Natural variantiVAR_058605373R → P in HPE5. 1 Publication1
Natural variantiVAR_058606402Y → N in HPE5. 1 Publication1
Natural variantiVAR_058607403T → K in HPE5. 1 Publication1
Natural variantiVAR_058608404H → R in HPE5. 1 Publication1
Natural variantiVAR_058609409R → W in HPE5. 1 Publication1
Natural variantiVAR_058610415H → Q in HPE5. 1 PublicationCorresponds to variant dbSNP:rs794729641EnsemblClinVar.1
Natural variantiVAR_008856470A → AAAAAAAAAAA in HPE5; near-complete loss of luciferase activity. 1

Keywords - Diseasei

Disease mutation, Holoprosencephaly

Organism-specific databases

DisGeNET

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DisGeNETi
7546

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ZIC2

MalaCards human disease database

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MalaCardsi
ZIC2
MIMi609637 phenotype

Open Targets

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OpenTargetsi
ENSG00000043355

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
93925 Alobar holoprosencephaly
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA37462

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ZIC2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000472471 – 532Zinc finger protein ZIC 2Add BLAST532

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei191PhosphoserineBy similarity1
Modified residuei199PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki253Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated.
Ubiquitinated by RNF180, leading to its degradation.

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O95409

MaxQB - The MaxQuant DataBase

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MaxQBi
O95409

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O95409

PeptideAtlas

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PeptideAtlasi
O95409

PRoteomics IDEntifications database

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PRIDEi
O95409

ProteomicsDB human proteome resource

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ProteomicsDBi
50861

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O95409

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O95409

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000043355 Expressed in 88 organ(s), highest expression level in cerebellum

CleanEx database of gene expression profiles

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CleanExi
HS_ZIC2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95409 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95409 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA055031

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RNF180. Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5); the interaction reduces its transcriptional activity. Interacts with GLI1 and GLI2 (By similarity). Interacts (via C2H2-type domain 3) with DHX9 (PubMed:17251188).By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113378, 16 interactors

Protein interaction database and analysis system

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IntActi
O95409, 2 interactors

Molecular INTeraction database

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MINTi
O95409

STRING: functional protein association networks

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STRINGi
9606.ENSP00000365514

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O95409

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O95409

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni100 – 255Necessary for interaction with MDFIC and transcriptional activation or repressionBy similarityAdd BLAST156

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi20 – 23Poly-His4
Compositional biasi25 – 33Poly-Ala9
Compositional biasi89 – 97Poly-Ala9
Compositional biasi226 – 230Poly-Ala5
Compositional biasi231 – 239Poly-His9
Compositional biasi456 – 470Poly-AlaAdd BLAST15
Compositional biasi490 – 508Poly-GlyAdd BLAST19

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri256 – 291C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST36
Zinc fingeri300 – 327C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST28
Zinc fingeri333 – 357C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri363 – 387C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri393 – 415C2H2-type 5PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160645

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000232057

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG007135

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95409

KEGG Orthology (KO)

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KOi
K06235

Identification of Orthologs from Complete Genome Data

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OMAi
DSAHMGA

Database of Orthologous Groups

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OrthoDBi
EOG091G0M59

Database for complete collections of gene phylogenies

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PhylomeDBi
O95409

TreeFam database of animal gene trees

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TreeFami
TF351425

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

Pfam protein domain database

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Pfami
View protein in Pfam
PF00096 zf-C2H2, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 5 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57667 SSF57667, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

O95409-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLLDAGPQFP AIGVGSFARH HHHSAAAAAA AAAEMQDREL SLAAAQNGFV
60 70 80 90 100
DSAAAHMGAF KLNPGAHELS PGQSSAFTSQ GPGAYPGSAA AAAAAAALGP
110 120 130 140 150
HAAHVGSYSG PPFNSTRDFL FRSRGFGDSA PGGGQHGLFG PGAGGLHHAH
160 170 180 190 200
SDAQGHLLFP GLPEQHGPHG SQNVLNGQMR LGLPGEVFGR SEQYRQVASP
210 220 230 240 250
RTDPYSAAQL HNQYGPMNMN MGMNMAAAAA HHHHHHHHHP GAFFRYMRQQ
260 270 280 290 300
CIKQELICKW IDPEQLSNPK KSCNKTFSTM HELVTHVSVE HVGGPEQSNH
310 320 330 340 350
VCFWEECPRE GKPFKAKYKL VNHIRVHTGE KPFPCPFPGC GKVFARSENL
360 370 380 390 400
KIHKRTHTGE KPFQCEFEGC DRRFANSSDR KKHMHVHTSD KPYLCKMCDK
410 420 430 440 450
SYTHPSSLRK HMKVHESSPQ GSESSPAASS GYESSTPPGL VSPSAEPQSS
460 470 480 490 500
SNLSPAAAAA AAAAAAAAAA VSAVHRGGGS GSGGAGGGSG GGSGSGGGGG
510 520 530
GAGGGGGGSS GGGSGTAGGH SGLSSNFNEW YV
Length:532
Mass (Da):55,006
Last modified:April 16, 2002 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iBA3E6455DAF97EAC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti124 – 128RGFGD → ARLPGT in AAC96325 (PubMed:9771712).Curated5

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

The poly-His region between amino acids 231-239 of ZIC2 is polymorphic and the number of His can vary from 8 to 12.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02379336Q → P in HPE5; 2-fold increase in luciferase activity. 2 Publications1
Natural variantiVAR_05859237D → N in HPE5. 1 Publication1
Natural variantiVAR_058593128D → N in HPE5. 1 Publication1
Natural variantiVAR_023794152D → F in HPE5; requires 2 nucleotide substitutions; 50% reduction of luciferase activity. 3 Publications1
Natural variantiVAR_023795239H → HH1 Publication1
Natural variantiVAR_023796239Missing 1 Publication1
Natural variantiVAR_058594272S → N in HPE5. 1 Publication1
Natural variantiVAR_058595286H → L in HPE5. 1 Publication1
Natural variantiVAR_058596286H → Q in HPE5. 1 Publication1
Natural variantiVAR_058597286H → Y in HPE5. 1 Publication1
Natural variantiVAR_058598291H → Y in HPE5. 1 Publication1
Natural variantiVAR_058599304W → R in HPE5. 1 Publication1
Natural variantiVAR_058600314F → C in HPE5. 1 Publication1
Natural variantiVAR_058601325R → L in HPE5. 1 Publication1
Natural variantiVAR_058602325R → S in HPE5. 1 Publication1
Natural variantiVAR_058603327H → Y in HPE5. 1 Publication1
Natural variantiVAR_058604335C → F in HPE5. 1 Publication1
Natural variantiVAR_058605373R → P in HPE5. 1 Publication1
Natural variantiVAR_058606402Y → N in HPE5. 1 Publication1
Natural variantiVAR_058607403T → K in HPE5. 1 Publication1
Natural variantiVAR_058608404H → R in HPE5. 1 Publication1
Natural variantiVAR_058609409R → W in HPE5. 1 Publication1
Natural variantiVAR_058610415H → Q in HPE5. 1 PublicationCorresponds to variant dbSNP:rs794729641EnsemblClinVar.1
Natural variantiVAR_008856470A → AAAAAAAAAAA in HPE5; near-complete loss of luciferase activity. 1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF104902 mRNA Translation: AAC96325.1
AF193855 mRNA Translation: AAG28409.1
AL355338 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS9495.1

NCBI Reference Sequences

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RefSeqi
NP_009060.2, NM_007129.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.653700

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000376335; ENSP00000365514; ENSG00000043355

Database of genes from NCBI RefSeq genomes

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GeneIDi
7546

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:7546

UCSC genome browser

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UCSCi
uc001von.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF104902 mRNA Translation: AAC96325.1
AF193855 mRNA Translation: AAG28409.1
AL355338 Genomic DNA No translation available.
CCDSiCCDS9495.1
RefSeqiNP_009060.2, NM_007129.3
UniGeneiHs.653700

3D structure databases

ProteinModelPortaliO95409
SMRiO95409
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113378, 16 interactors
IntActiO95409, 2 interactors
MINTiO95409
STRINGi9606.ENSP00000365514

PTM databases

iPTMnetiO95409
PhosphoSitePlusiO95409

Polymorphism and mutation databases

BioMutaiZIC2

Proteomic databases

EPDiO95409
MaxQBiO95409
PaxDbiO95409
PeptideAtlasiO95409
PRIDEiO95409
ProteomicsDBi50861

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
7546
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376335; ENSP00000365514; ENSG00000043355
GeneIDi7546
KEGGihsa:7546
UCSCiuc001von.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
7546
DisGeNETi7546
EuPathDBiHostDB:ENSG00000043355.10

GeneCards: human genes, protein and diseases

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GeneCardsi
ZIC2
GeneReviewsiZIC2
HGNCiHGNC:12873 ZIC2
HPAiHPA055031
MalaCardsiZIC2
MIMi603073 gene
609637 phenotype
neXtProtiNX_O95409
OpenTargetsiENSG00000043355
Orphaneti93925 Alobar holoprosencephaly
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly
PharmGKBiPA37462

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000160645
HOGENOMiHOG000232057
HOVERGENiHBG007135
InParanoidiO95409
KOiK06235
OMAiDSAHMGA
OrthoDBiEOG091G0M59
PhylomeDBiO95409
TreeFamiTF351425

Enzyme and pathway databases

SignaLinkiO95409
SIGNORiO95409

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ZIC2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ZIC2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
7546

Protein Ontology

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PROi
PR:O95409

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000043355 Expressed in 88 organ(s), highest expression level in cerebellum
CleanExiHS_ZIC2
ExpressionAtlasiO95409 baseline and differential
GenevisibleiO95409 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 3 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 5 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiZIC2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95409
Secondary accession number(s): Q5VYA9, Q9H309
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: April 16, 2002
Last modified: December 5, 2018
This is version 173 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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