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O95409

- ZIC2_HUMAN

UniProt

O95409 - ZIC2_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00760000118771.
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

        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
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00760000118771.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 137 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