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O95409

- ZIC2_HUMAN

UniProt

O95409 - ZIC2_HUMAN

Protein

Zinc finger protein ZIC 2

Gene

ZIC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 2 (16 Apr 2002)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri256 – 29136C2H2-type 1; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri300 – 32728C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri333 – 35725C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri363 – 38725C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri393 – 41523C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin DNA binding Source: UniProtKB
    2. DNA binding Source: UniProtKB
    3. metal ion binding Source: UniProtKB-KW
    4. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. brain development Source: ProtInc
    2. developmental pigmentation Source: Ensembl
    3. negative regulation of transcription, DNA-templated Source: UniProtKB
    4. neural tube closure Source: Ensembl
    5. positive regulation of sequence-specific DNA binding transcription factor activity Source: UniProtKB
    6. positive regulation of transcription, DNA-templated Source: UniProtKB
    7. retinal ganglion cell axon guidance Source: Ensembl
    8. transcription, DNA-templated Source: UniProtKB-KW
    9. visual perception Source: UniProtKB

    Keywords - Molecular functioni

    Activator, Developmental protein, Repressor

    Keywords - Biological processi

    Differentiation, Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    SignaLinkiO95409.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger protein ZIC 2
    Alternative name(s):
    Zinc finger protein of the cerebellum 2
    Gene namesi
    Name:ZIC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:12873. ZIC2.

    Subcellular locationi

    Nucleus. Cytoplasm By similarity
    Note: Localizes in the cytoplasm in presence of MDFIC overexpression. Both phosphorylated and unphosphorylated forms are localized in the nucleus By similarity.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Holoprosencephaly 5 (HPE5) [MIM:609637]: A 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361Q → P in HPE5; 2-fold increase in luciferase activity. 1 Publication
    VAR_023793
    Natural varianti37 – 371D → N in HPE5. 1 Publication
    VAR_058592
    Natural varianti128 – 1281D → N in HPE5. 1 Publication
    VAR_058593
    Natural varianti152 – 1521D → F in HPE5; requires 2 nucleotide substitutions; 50% reduction of luciferase activity. 2 Publications
    VAR_023794
    Natural varianti272 – 2721S → N in HPE5. 1 Publication
    VAR_058594
    Natural varianti286 – 2861H → L in HPE5. 1 Publication
    VAR_058595
    Natural varianti286 – 2861H → Q in HPE5. 1 Publication
    VAR_058596
    Natural varianti286 – 2861H → Y in HPE5. 1 Publication
    VAR_058597
    Natural varianti291 – 2911H → Y in HPE5. 1 Publication
    VAR_058598
    Natural varianti304 – 3041W → R in HPE5. 1 Publication
    VAR_058599
    Natural varianti314 – 3141F → C in HPE5. 1 Publication
    VAR_058600
    Natural varianti325 – 3251R → L in HPE5. 1 Publication
    VAR_058601
    Natural varianti325 – 3251R → S in HPE5. 1 Publication
    VAR_058602
    Natural varianti327 – 3271H → Y in HPE5. 1 Publication
    VAR_058603
    Natural varianti335 – 3351C → F in HPE5. 1 Publication
    VAR_058604
    Natural varianti373 – 3731R → P in HPE5. 1 Publication
    VAR_058605
    Natural varianti402 – 4021Y → N in HPE5. 1 Publication
    VAR_058606
    Natural varianti403 – 4031T → K in HPE5. 1 Publication
    VAR_058607
    Natural varianti404 – 4041H → R in HPE5. 1 Publication
    VAR_058608
    Natural varianti409 – 4091R → W in HPE5. 1 Publication
    VAR_058609
    Natural varianti415 – 4151H → Q in HPE5. 1 Publication
    VAR_058610
    Natural varianti470 – 4701A → AAAAAAAAAAA in HPE5; near-complete loss of luciferase activity.
    VAR_008856

    Keywords - Diseasei

    Disease mutation, Holoprosencephaly

    Organism-specific databases

    MIMi609637. phenotype.
    Orphaneti93925. Alobar holoprosencephaly.
    93924. Lobar holoprosencephaly.
    280200. Microform holoprosencephaly.
    93926. Midline interhemispheric variant of holoprosencephaly.
    220386. Semilobar holoprosencephaly.
    280195. Septopreoptic holoprosencephaly.
    PharmGKBiPA37462.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 532532Zinc finger protein ZIC 2PRO_0000047247Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei191 – 1911PhosphoserineBy similarity
    Modified residuei199 – 1991PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylated.
    Ubiquitinated by RNF180, leading to its degradation.

    Keywords - PTMi

    Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiO95409.
    PaxDbiO95409.
    PeptideAtlasiO95409.
    PRIDEiO95409.

    PTM databases

    PhosphoSiteiO95409.

    Expressioni

    Gene expression databases

    BgeeiO95409.
    CleanExiHS_ZIC2.
    GenevestigatoriO95409.

    Interactioni

    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 DHX9 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi113378. 7 interactions.
    IntActiO95409. 1 interaction.
    MINTiMINT-2798893.
    STRINGi9606.ENSP00000365514.

    Structurei

    3D structure databases

    ProteinModelPortaliO95409.
    SMRiO95409. Positions 250-417.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni100 – 255156Necessary for interaction with MDFIC and transcriptional activation or repressionBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi20 – 234Poly-His
    Compositional biasi25 – 339Poly-Ala
    Compositional biasi89 – 979Poly-Ala
    Compositional biasi226 – 2305Poly-Ala
    Compositional biasi231 – 2399Poly-His
    Compositional biasi456 – 47015Poly-AlaAdd
    BLAST
    Compositional biasi490 – 50819Poly-GlyAdd
    BLAST

    Domaini

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

    Sequence similaritiesi

    Contains 5 C2H2-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri256 – 29136C2H2-type 1; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri300 – 32728C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri333 – 35725C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri363 – 38725C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri393 – 41523C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000232057.
    HOVERGENiHBG007135.
    InParanoidiO95409.
    KOiK06235.
    OMAiGIHDQHG.
    OrthoDBiEOG76472R.
    PhylomeDBiO95409.
    TreeFamiTF351425.

    Family and domain databases

    Gene3Di3.30.160.60. 4 hits.
    InterProiIPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view]
    PfamiPF00096. zf-C2H2. 1 hit.
    [Graphical view]
    SMARTiSM00355. ZnF_C2H2. 5 hits.
    [Graphical view]
    PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
    PS50157. ZINC_FINGER_C2H2_2. 4 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O95409-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLLDAGPQFP AIGVGSFARH HHHSAAAAAA AAAEMQDREL SLAAAQNGFV    50
    DSAAAHMGAF KLNPGAHELS PGQSSAFTSQ GPGAYPGSAA AAAAAAALGP 100
    HAAHVGSYSG PPFNSTRDFL FRSRGFGDSA PGGGQHGLFG PGAGGLHHAH 150
    SDAQGHLLFP GLPEQHGPHG SQNVLNGQMR LGLPGEVFGR SEQYRQVASP 200
    RTDPYSAAQL HNQYGPMNMN MGMNMAAAAA HHHHHHHHHP GAFFRYMRQQ 250
    CIKQELICKW IDPEQLSNPK KSCNKTFSTM HELVTHVSVE HVGGPEQSNH 300
    VCFWEECPRE GKPFKAKYKL VNHIRVHTGE KPFPCPFPGC GKVFARSENL 350
    KIHKRTHTGE KPFQCEFEGC DRRFANSSDR KKHMHVHTSD KPYLCKMCDK 400
    SYTHPSSLRK HMKVHESSPQ GSESSPAASS GYESSTPPGL VSPSAEPQSS 450
    SNLSPAAAAA AAAAAAAAAA VSAVHRGGGS GSGGAGGGSG GGSGSGGGGG 500
    GAGGGGGGSS GGGSGTAGGH SGLSSNFNEW YV 532
    Length:532
    Mass (Da):55,006
    Last modified:April 16, 2002 - v2
    Checksum:iBA3E6455DAF97EAC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti124 – 1285RGFGD → ARLPGT in AAC96325. (PubMed:9771712)Curated

    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361Q → P in HPE5; 2-fold increase in luciferase activity. 1 Publication
    VAR_023793
    Natural varianti37 – 371D → N in HPE5. 1 Publication
    VAR_058592
    Natural varianti128 – 1281D → N in HPE5. 1 Publication
    VAR_058593
    Natural varianti152 – 1521D → F in HPE5; requires 2 nucleotide substitutions; 50% reduction of luciferase activity. 2 Publications
    VAR_023794
    Natural varianti239 – 2391H → HH.1 Publication
    VAR_023795
    Natural varianti239 – 2391Missing.1 Publication
    VAR_023796
    Natural varianti272 – 2721S → N in HPE5. 1 Publication
    VAR_058594
    Natural varianti286 – 2861H → L in HPE5. 1 Publication
    VAR_058595
    Natural varianti286 – 2861H → Q in HPE5. 1 Publication
    VAR_058596
    Natural varianti286 – 2861H → Y in HPE5. 1 Publication
    VAR_058597
    Natural varianti291 – 2911H → Y in HPE5. 1 Publication
    VAR_058598
    Natural varianti304 – 3041W → R in HPE5. 1 Publication
    VAR_058599
    Natural varianti314 – 3141F → C in HPE5. 1 Publication
    VAR_058600
    Natural varianti325 – 3251R → L in HPE5. 1 Publication
    VAR_058601
    Natural varianti325 – 3251R → S in HPE5. 1 Publication
    VAR_058602
    Natural varianti327 – 3271H → Y in HPE5. 1 Publication
    VAR_058603
    Natural varianti335 – 3351C → F in HPE5. 1 Publication
    VAR_058604
    Natural varianti373 – 3731R → P in HPE5. 1 Publication
    VAR_058605
    Natural varianti402 – 4021Y → N in HPE5. 1 Publication
    VAR_058606
    Natural varianti403 – 4031T → K in HPE5. 1 Publication
    VAR_058607
    Natural varianti404 – 4041H → R in HPE5. 1 Publication
    VAR_058608
    Natural varianti409 – 4091R → W in HPE5. 1 Publication
    VAR_058609
    Natural varianti415 – 4151H → Q in HPE5. 1 Publication
    VAR_058610
    Natural varianti470 – 4701A → AAAAAAAAAAA in HPE5; near-complete loss of luciferase activity.
    VAR_008856

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF104902 mRNA. Translation: AAC96325.1.
    AF193855 mRNA. Translation: AAG28409.1.
    AL355338 Genomic DNA. Translation: CAH70367.1.
    CCDSiCCDS9495.1.
    RefSeqiNP_009060.2. NM_007129.3.
    UniGeneiHs.653700.

    Genome annotation databases

    EnsembliENST00000376335; ENSP00000365514; ENSG00000043355.
    GeneIDi7546.
    KEGGihsa:7546.
    UCSCiuc001von.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF104902 mRNA. Translation: AAC96325.1 .
    AF193855 mRNA. Translation: AAG28409.1 .
    AL355338 Genomic DNA. Translation: CAH70367.1 .
    CCDSi CCDS9495.1.
    RefSeqi NP_009060.2. NM_007129.3.
    UniGenei Hs.653700.

    3D structure databases

    ProteinModelPortali O95409.
    SMRi O95409. Positions 250-417.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113378. 7 interactions.
    IntActi O95409. 1 interaction.
    MINTi MINT-2798893.
    STRINGi 9606.ENSP00000365514.

    PTM databases

    PhosphoSitei O95409.

    Proteomic databases

    MaxQBi O95409.
    PaxDbi O95409.
    PeptideAtlasi O95409.
    PRIDEi O95409.

    Protocols and materials databases

    DNASUi 7546.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000376335 ; ENSP00000365514 ; ENSG00000043355 .
    GeneIDi 7546.
    KEGGi hsa:7546.
    UCSCi uc001von.3. human.

    Organism-specific databases

    CTDi 7546.
    GeneCardsi GC13P100634.
    GeneReviewsi ZIC2.
    HGNCi HGNC:12873. ZIC2.
    MIMi 603073. gene.
    609637. phenotype.
    neXtProti NX_O95409.
    Orphaneti 93925. Alobar holoprosencephaly.
    93924. Lobar holoprosencephaly.
    280200. Microform holoprosencephaly.
    93926. Midline interhemispheric variant of holoprosencephaly.
    220386. Semilobar holoprosencephaly.
    280195. Septopreoptic holoprosencephaly.
    PharmGKBi PA37462.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000232057.
    HOVERGENi HBG007135.
    InParanoidi O95409.
    KOi K06235.
    OMAi GIHDQHG.
    OrthoDBi EOG76472R.
    PhylomeDBi O95409.
    TreeFami TF351425.

    Enzyme and pathway databases

    SignaLinki O95409.

    Miscellaneous databases

    GeneWikii ZIC2.
    GenomeRNAii 7546.
    NextBioi 29525.
    PROi O95409.
    SOURCEi Search...

    Gene expression databases

    Bgeei O95409.
    CleanExi HS_ZIC2.
    Genevestigatori O95409.

    Family and domain databases

    Gene3Di 3.30.160.60. 4 hits.
    InterProi IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view ]
    Pfami PF00096. zf-C2H2. 1 hit.
    [Graphical view ]
    SMARTi SM00355. ZnF_C2H2. 5 hits.
    [Graphical view ]
    PROSITEi PS00028. ZINC_FINGER_C2H2_1. 3 hits.
    PS50157. ZINC_FINGER_C2H2_2. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired."
      Brown S.A., Warburton D., Brown L.Y., Yu C.Y., Roeder E.R., Stengel-Rutkowski S., Hennekam R.C.M., Muenke M.
      Nat. Genet. 20:180-183(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION OF VARIANT HPE5 POLY-ALA INS.
    2. "ZIC2 and Sp3 repress Sp1-induced activation of the human D1A dopamine receptor gene."
      Yang Y., Hwang C.K., Junn E., Lee G., Mouradian M.M.
      J. Biol. Chem. 275:38863-38869(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    3. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination."
      Brown L.Y., Odent S., David V., Blayau M., Dubourg C., Apacik C., Delgado M.A., Hall B.D., Reynolds J.F., Sommer A., Wieczorek D., Brown S.A., Muenke M.
      Hum. Mol. Genet. 10:791-796(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HPE5 POLY-ALA INS AND PHE-152, POLYMORPHISM OF POLY-HIS REGION.
    5. "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations."
      Dubourg C., Lazaro L., Pasquier L., Bendavid C., Blayau M., Le Duff F., Durou M.-R., Odent S., David V.
      Hum. Mutat. 24:43-51(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HPE5 PRO-36 AND PHE-152, VARIANTS HIS-239 INS AND HIS-239 DEL.
    6. "In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation."
      Brown L., Paraso M., Arkell R., Brown S.
      Hum. Mol. Genet. 14:411-420(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS HPE5 PRO-36; PHE-152 AND POLY-ALA INS.
    7. "The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism."
      Roessler E., Lacbawan F., Dubourg C., Paulussen A., Herbergs J., Hehr U., Bendavid C., Zhou N., Ouspenskaia M., Bale S., Odent S., David V., Muenke M.
      Hum. Mutat. 30:E541-E554(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HPE5 ASN-37; ASN-128; ASN-272; LEU-286; GLN-286; TYR-286; TYR-291; ARG-304; CYS-314; SER-325; LEU-325; TYR-327; PHE-335; PRO-373; ASN-402; LYS-403; ARG-404; TRP-409 AND GLN-415.

    Entry informationi

    Entry nameiZIC2_HUMAN
    AccessioniPrimary (citable) accession number: O95409
    Secondary accession number(s): Q5VYA9, Q9H309
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: April 16, 2002
    Last modified: October 1, 2014
    This is version 136 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3