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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ZNF48 Gene

protein-coding   GIFtS: 42
GCID: GC16P030389

Zinc Finger Protein 48

(Previous name: zinc finger protein 553)
(Previous symbol: ZNF553)
  Search for ZNF48
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Zinc Finger Protein 481 2
Zinc Finger Protein 5531 2 3
ZNF5531 2 3

External Ids:    HGNC: 131141   Entrez Gene: 1974072   Ensembl: ENSG000001800357   UniProtKB: Q96MX33   

Export aliases for ZNF48 gene to outside databases

Previous GC identifers: GC16U990064 GC16P030315 GC16P030406 GC16P027968


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ZNF48 Gene: 
ZNF48 (zinc finger protein 48) is a protein-coding gene. GO annotations related to this gene include DNA binding and zinc ion binding. An important paralog of this gene is ZNF629.

UniProtKB/Swiss-Prot: ZNF48_HUMAN, Q96MX3
Function: May be involved in transcriptional regulation




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZNF48 gene promoter:
         Bach1   HOXA9   HOXA9B   Elk-1   AML1a   p53   Tal-1beta   Meis-1b   AREB6   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNF48 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZNF48

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF48


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

ZNF48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF48 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P030389:  view genomic region     (about GC identifiers)

Start:
30,389,427 bp from pter      End:
30,411,429 bp from pter
Size:
22,003 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ZNF48_HUMAN, Q96MX3 (See protein sequence)
Recommended Name: Zinc finger protein 48  
Size: 618 amino acids; 67820 Da
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=AAA61316.1; Type=Frameshift; Positions=168;
Secondary accessions: Q15920 Q4G0R3 Q69YP3 Q96IL9

Explore the universe of human proteins at neXtProt for ZNF48: NX_Q96MX3

Explore proteomics data for ZNF48 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96MX3

  • ZNF48 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZNF48 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001201835.1  NP_001201836.1  NP_001201838.1  NP_689865.2  

    ENSEMBL proteins: 
     ENSP00000417204   ENSP00000435674   ENSP00000432548   ENSP00000324056  

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    Cloud-Clone Corp. Proteins for ZNF48 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    ZNF48 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q96MX3

    ProtoNet protein and cluster: Q96MX3

    UniProtKB/Swiss-Prot: ZNF48_HUMAN, Q96MX3
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 12 C2H2-type zinc fingers


    ZNF48 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZNF48_HUMAN, Q96MX3
    Function: May be involved in transcriptional regulation

         Genatlas biochemistry entry for ZNF48:
    zinc finger protein 48 (C2H2 type,Kruppel-like)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    ZNF48 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ZNF48:
     Increased gamma-H2AX phosphory  Proliferating cells  Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ZNF48 
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    SwitchGear 3'UTR luciferase reporter plasmidZNF48 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF48


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZNF48

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--

    ZNF48 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ZNF48

    Search CenterWatch for drugs/clinical trials and news about ZNF48

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ZNF48 gene (4 alternative transcripts): 
    NM_001214906.1  NM_001214907.1  NM_001214909.1  NM_152652.2  

    Unigene Cluster for ZNF48:

    Zinc finger protein 48
    Hs.513501  [show with all ESTs]
    Unigene Representative Sequence: NM_001214909
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495929 ENST00000528032 ENST00000524644 ENST00000320159(uc021tgi.1 uc021tgj.1 uc021tgk.1 uc002dya.2)

    miRNA
    Products:
         
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate ZNF48 (see all 21):
    hsa-miR-3128 hsa-miR-34b* hsa-miR-24-1* hsa-miR-1260b hsa-miR-24-2* hsa-miR-27b* hsa-miR-9 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidZNF48 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZNF48
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZNF48

    Additional mRNA sequence: 

    AK056313.1 AK122598.1 AL832433.1 BC007393.2 BC041388.1 

    6 DOTS entries:

    DT.456115  DT.100778386  DT.91794137  DT.95264401  DT.100736241  DT.100778387 

    24/77 AceView cDNA sequences (see all 77):

    BU189252 CA434624 CR613411 BE271315 AI971330 AL832433 AI367542 AK122598 
    CF594347 BG397208 BI548243 BG775023 AL521034 BG762869 BM805989 BC007393 
    BF125723 CB119030 BX461659 AL521033 BG334890 BX455169 BX359433 BF437743 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ZNF48    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b
    SP1:                        
    SP2:                        


    ECgene alternative splicing isoforms for ZNF48

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ZNF48 expression in normal human tissues (normalized intensities)      ZNF48 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAAGGTGG
    ZNF48 Expression
    About this image


    ZNF48 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             Zeugopod Long Bone
             skeleton/pectoral girdle and thoracic body wall/scapula   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             Meckel's Cartilage
             sensory organ/nose/nasal septum   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 3 entries
             skeleton/cranium/chondrocranium   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/naris   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See ZNF48 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZNF48

    SOURCE GeneReport for Unigene cluster: Hs.513501
        SABiosciences Custom PCR Arrays for ZNF48
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF48

    (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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for ZNF48 gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zfp5531 , 5 zinc finger protein 5531, 5 84.25(n)1
    88.18(a)1
      7 (69.40 cM)5
    2338871  NM_146201.11  NP_666313.11 
     1272330615 


    ENSEMBL Gene Tree for ZNF48 (if available)
    TreeFam Gene Tree for ZNF48 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZNF48 gene
    ZNF6292  
    18/76 SIMAP similar genes for ZNF48 using alignment to 4 protein entries:     ZNF48_HUMAN (see all proteins) (see all similar genes):
    ZNF78L1    ZNF410    HZF16    ZNF    kr-znf3    ZFS-4
    A-328A3.4    DKFZp434J0650    ZFS-6    PLZF    ZFS-2    ZNF500
    ZNF72    ZNF286A    ZNF345    ZNF697    ZNF55    ZNF791

    ZNF48 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/345 SNPs in ZNF48 are shown (see all 345)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1402699121,2
    C--30396498(+) TCTCA-/AATAA 
     TAATAAT
    AATAA
    2 -- int10--------
    rs1426584831,2
    C--30396498(+) TCTCA-/AATAATAA 2 -- int10--------
    rs105690351,2
    C--30396509(+) aataa-/TAA/  
      TAATAA
    taata
    4 -- int1 cds11NA 2
    rs1838248451,2
    --30396743(+) GAGATC/GGAGAC 2 -- int10--------
    rs47884101,2
    C,F,H--30396805(+) GTTGGG/ATGTGG 2 -- int18Minor allele frequency- A:0.14NA WA CSA 14
    rs47884111,2
    C,F,A,H--30396815(+) GTGGCA/GCGTGC 2 -- int19Minor allele frequency- G:0.19NA WA CSA 16
    rs114481101,2
    C--30396901(+) GATCAC/-CACCA 2 -- int12Minor allele frequency- -:0.25NA 4
    rs1443176251,2
    C--30396955(+) AAAGG-/AAAAAA 2 -- int10--------
    rs1470758811,2
    C--30396998(+) ACAAGC/TGTTTC 2 -- int10--------
    rs756071961,2
    C,F--30397170(+) TGTTGG/AGCGTG 2 -- int11Minor allele frequency- A:0.06WA 118

    HapMap Linkage Disequilibrium report for ZNF48 (30389427 - 30411429 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ZNF48:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv905724CNV Loss21882294
    nsv1782CNV Loss18451855
    nsv905725CNV Loss21882294
    nsv827612CNV Gain20364138

    SABiosciences Cancer Mutation PCR Assays
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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.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for ZNF48 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ZNF48)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. (PubMed id 1505991)1, 2, 3 Lichter P....Ward D.C. (1992)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
    8. 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. (2002)
    9. Characterization and mapping of human genes encoding zinc finger proteins. (PubMed id 1946370)1 Bray P.L.... Dawid I.B. (1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 197407 HGNC: 13114 AceView: ZNF553 Ensembl:ENSG00000180035 euGenes: HUgn197407
    ECgene: ZNF48 H-InvDB: ZNF48

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ZNF48 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ZNF48 gene:
    Search GeneIP for patents involving ZNF48

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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