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S100Z Gene

protein-coding   GIFtS: 51
GCID: GC05P076181

S100 Calcium Binding Protein Z

(Previous names: S100 calcium binding protein, zeta)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
S100 Calcium Binding Protein Z1 2
S100 Calcium Binding Protein, Zeta1 2
S100 Calcium-Binding Protein Z2 3
Gm6252
S100-zeta2
Protein S100-Z2

External Ids:    HGNC: 303671   Entrez Gene: 1705912   Ensembl: ENSG000001716437   OMIM: 6101035   UniProtKB: Q8WXG83   

Export aliases for S100Z gene to outside databases

Previous GC identifers: GC05P074951 GC05P076380 GC05P076184 GC05P076229 GC05P071353


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for S100Z Gene:
Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression
patterns. For additional background information on S100 proteins, see MIM 114085.(supplied by OMIM, Mar 2008)

GeneCards Summary for S100Z Gene:
S100Z (S100 calcium binding protein Z) is a protein-coding gene. Diseases associated with S100Z include ulcerative colitis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is S100A11.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the S100Z gene promoter:
         ER-alpha   STAT5B   p53   AML1a   GATA-1   Nkx6-1   FOXC1   deltaCREB   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidS100Z promoter sequence
   Search Chromatin IP Primers for S100Z

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat S100Z


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q13.3   Ensembl cytogenetic band:  5q13.3   HGNC cytogenetic band: 5q13.3

S100Z Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
S100Z gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P076181:  view genomic region     (about GC identifiers)

Start:
76,145,826 bp from pter      End:
76,217,475 bp from pter
Size:
71,650 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: S100Z_HUMAN, Q8WXG8 (See protein sequence)
Recommended Name: Protein S100-Z  
Size: 99 amino acids; 11620 Da
Subunit: Homodimer. Interacts with S100P
Miscellaneous: This protein binds two calcium ions

Explore the universe of human proteins at neXtProt for S100Z: NX_Q8WXG8

Explore proteomics data for S100Z at MOPED


See S100Z Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_570128.2  
ENSEMBL proteins: 
 ENSP00000426768   ENSP00000320430  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
EFHAND: EF-hand domain containing
S100: S100 calcium binding proteins

Selected InterPro protein domains (see all 6):
 IPR011992 EF-hand-dom_pair
 IPR002048 EF_hand_dom
 IPR013787 S100_Ca-bd_sub
 IPR028490 S100Z
 IPR018247 EF_Hand_1_Ca_BS

Graphical View of Domain Structure for InterPro Entry Q8WXG8

ProtoNet protein and cluster: Q8WXG8

1 Blocks protein domain: IPB001751 Calcium-binding protein

UniProtKB/Swiss-Prot: S100Z_HUMAN, Q8WXG8
Similarity: Belongs to the S-100 family
Similarity: Contains 2 EF-hand domains


S100Z for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005509calcium ion binding IEA--
     
S100Z for ontologies           About GeneDecksing


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miRNA
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hsa-mir-335-5p (MIRT017307)

Block miRNA regulation of human, mouse, rat S100Z using miScript Target Protectors
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hsa-miR-4324
SwitchGear 3'UTR luciferase reporter plasmidS100Z 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
extracellular1
mitochondrion1
plasma membrane1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for S100Z
Interactions:

    Search GeneGlobe Interaction Network for S100Z

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for S100Z (Q8WXG83 ENSP000003204304) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
S100PP258153, ENSP000002963704I2D: score=2 STRING: ENSP00000296370
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for S100Z

1 HMDB Compound for S100Z    About this table
CompoundSynonyms CAS #PubMed Ids
CalciumCa (see all 2)7440-70-2--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for S100Z gene: 
NM_130772.3  

Unigene Cluster for S100Z:

S100 calcium binding protein Z
Hs.482563  [show with all ESTs]
Unigene Representative Sequence: NM_130772
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000513010(uc003kep.1) ENST00000317593(uc003keq.4)
miRNA
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hsa-miR-4324
SwitchGear 3'UTR luciferase reporter plasmidS100Z 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat S100Z

Additional mRNA sequence: 

AF437876.1 BC022320.1 

2 DOTS entries:

DT.91693746  DT.95286045 

14 AceView cDNA sequences:

BX281742 CD368348 BI766857 CA429693 BU727516 BG541527 BG529999 NM_130772 
BC022320 AF437876 BM687054 CD639003 AV763723 AJ713880 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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S100Z expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATTAGAATCT
S100Z Expression
About this image

S100Z Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

S100Z Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.482563

UniProtKB/Swiss-Prot: S100Z_HUMAN, Q8WXG8
Tissue specificity: Highest level of expression in spleen and leukocytes

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QuantiFast Probe-based Assays in human, mouse, rat S100Z
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for S100Z

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for S100Z gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia S100z1 , 5 S100 calcium binding protein, zeta1, 5 87.21(n)1
89.9(a)1
  13 (49.53 cM)5
2686861  NM_001081159.11  NP_001074628.11 
 954773015 
chicken
(Gallus gallus)
Aves S100Z1 S100 calcium binding protein Z 72.57(n)
68.75(a)
  431598  XM_004937336.1  XP_004937393.1 
lizard
(Anolis carolinensis)
Reptilia S100Z6
S100 calcium binding protein Z
76(a)
1 ↔ 1
2(14135194-14144790)
tropical clawed frog
(Xenopus tropicalis)
Amphibia s100z1 S100 calcium binding protein Z 76.77(n)
75.76(a)
  100489987  XM_002940869.2  XP_002940915.1 
zebrafish
(Danio rerio)
Actinopterygii s100z1 S100 calcium binding protein Z 68.69(n)
67.68(a)
  554089  NM_001024391.2  NP_001019562.1 


ENSEMBL Gene Tree for S100Z (if available)
TreeFam Gene Tree for S100Z (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for S100Z gene
S100A112  S100A62  S100A12  S100A122  S100B2  S100A42  S100A32  S100A102  
S100P2  S100A22  S100A52  S100A92  
Selected SIMAP similar genes for S100Z using alignment to 1 protein entry:     S100Z_HUMAN(see all similar genes):
S100B    S100A1    S100A16    S100A2    S100A9    S100P
S100A4    S100A5    S100A10    S100A11    S100A12    HRNR
S100A6    FLG    S100A13    CABP2    CRNN    FLG2

S100Z for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for S100Z (see all 1703)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs125156021,2
C,F,H--76143838(+) TCAAAC/TTCCTG 1 -- us2k11Minor allele frequency- T:0.10EA 120
rs1180255421,2
F--76143966(+) CCAGGC/TTGTGT 1 -- us2k11Minor allele frequency- T:0.03EA 120
rs1156345301,2
C--76143978(+) GAACTC/TTTGGG 1 -- us2k10--------
rs1999984341,2
C--76144010(+) TGCCT-/CCCAAA 1 -- us2k10--------
rs1441542511,2
C--76144102(+) TCTTGA/CCCAGG 1 -- us2k10--------
rs1922106861,2
C--76144196(+) AGCTGG/TGATTA 1 -- us2k10--------
rs1848389281,2
--76144206(+) ACAGGC/TGCACA 1 -- us2k10--------
rs1159018471,2
C,F--76144271(+) AGAACA/GTATCT 1 -- us2k11Minor allele frequency- G:0.03WA 118
rs1487017111,2
C--76144297(+) GGCTGA/GTGCCT 1 -- us2k10--------
rs1115414731,2
C--76144328(+) AGCCAG/AGCTGG 1 -- us2k13Minor allele frequency- A:0.15WA EA 240

HapMap Linkage Disequilibrium report for S100Z (76145826 - 76217475 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for S100Z:    About this table    
Variant IDTypeSubtypePubMed ID
nsv524024CNV Loss19592680
esv34133CNV Loss18971310
nsv830355CNV Gain17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing S100Z
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 610103    OMIM disorders: --

1 disease for S100Z:    
About MalaCards
ulcerative colitis


S100Z for disorders           About GeneDecksing

Genetic Association Database (GAD): S100Z
Human Genome Epidemiology (HuGE) Navigator: S100Z (1 document)

Export disorders for S100Z gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for S100Z gene integrated from 10 sources:
(articles sorted by number of sources associating them with S100Z)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Molecular characterization and tissue distribution of a novel member of the S100 family of EF-hand proteins. (PubMed id 11747429)1, 2, 3, 9 Gribenko A.V.... Makhatadze G.I. (Biochemistry 2001)
  2. Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. (PubMed id 19861958)1, 4 Festen E.A....Weersma R.K. (Am. J. Gastroenterol. 2010)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 170591 HGNC: 30367 AceView: S100Z Ensembl:ENSG00000171643 euGenes: HUgn170591
ECgene: S100Z H-InvDB: S100Z

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for S100Z Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for S100Z gene:
Search GeneIP for patents involving S100Z

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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