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ZNF750 Gene

protein-coding   GIFtS: 47
GCID: GC17M080787

Zinc Finger Protein 750

  See ZNF750-related diseases
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
Zinc Finger Protein 7501 2
ZFP7502
Protein ZNF7502
FLJ138415

External Ids:    HGNC: 258431   Entrez Gene: 797552   Ensembl: ENSG000001415797   OMIM: 6102265   UniProtKB: Q32MQ03   

Export aliases for ZNF750 gene to outside databases

Previous GC identifers: GC17M078381 GC17M076189


(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 ZNF750 Gene:
This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene
have been associated with seborrhea-like dermatitis with psoriasiform elements. (provided by RefSeq, Jul 2008)

GeneCards Summary for ZNF750 Gene:
ZNF750 (zinc finger protein 750) is a protein-coding gene. Diseases associated with ZNF750 include seborrhea-like dermatitis with psoriasiform elements, and dermatitis. GO annotations related to this gene include core promoter sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription. An important paralog of this gene is C16orf11.

UniProtKB/Swiss-Prot: ZN750_HUMAN, Q32MQ0
Function: Transcription factor involved in epidermis differentiation. Required for terminal epidermal
differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes.
Specifically binds to the promoter of KLF4 and promotes its expression




(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 at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010663.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ZNF750
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNF750 promoter sequence
   Search Chromatin IP Primers for ZNF750

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZNF750


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

ZNF750 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF750 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M080787:  view genomic region     (about GC identifiers)

Start:
80,787,310 bp from pter      End:
80,798,454 bp from pter
Size:
11,145 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ZN750_HUMAN, Q32MQ0 (See protein sequence)
Recommended Name: Zinc finger protein 750  
Size: 723 amino acids; 77361 Da
Secondary accessions: Q9H899

Explore the universe of human proteins at neXtProt for ZNF750: NX_Q32MQ0

Explore proteomics data for ZNF750 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZNF750 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078978.2  
    ENSEMBL proteins: 
     ENSP00000269394   ENSP00000458389  
    Reactome Protein details: Q32MQ0

    ZNF750 Human Recombinant Protein Products:

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    antibodies-online antibodies for ZNF750 (19 products) 

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    antibodies-online kits for ZNF750 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR015880 Znf_C2H2-like

    Graphical View of Domain Structure for InterPro Entry Q32MQ0

    ProtoNet protein and cluster: Q32MQ0

    UniProtKB/Swiss-Prot: ZN750_HUMAN, Q32MQ0
    Similarity: Contains 1 C2H2-type zinc finger


    Find genes that share domains with ZNF750           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZN750_HUMAN, Q32MQ0
    Function: Transcription factor involved in epidermis differentiation. Required for terminal epidermal
    differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes.
    Specifically binds to the promoter of KLF4 and promotes its expression
    Induction: During epidermal differentiation: expression is activated by p63/TP63

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001046core promoter sequence-specific DNA binding IDA--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ZNF750           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ZNF750

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate ZNF750:
    hsa-miR-3121-3p hsa-miR-944 hsa-miR-412
    SwitchGear 3'UTR luciferase reporter plasmidZNF750 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ZNF750

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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 UniProtKB/Swiss-Prot
    ZN750_HUMAN, Q32MQ0: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with ZNF750           About GenesLikeMe


    (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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    SuperPaths for ZNF750 About    
    See pathways by source

    SuperPathContained pathways About
    1Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40


    Find genes that share SuperPaths with ZNF750           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ZNF750
        Generic Transcription Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZNF750
    Interactions:

        Search GeneGlobe Interaction Network for ZNF750

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544epidermis development IMP--
    GO:0030154cell differentiation IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IDA--

    Find genes that share ontologies with ZNF750           About GenesLikeMe



    (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 ZNF750 (ZN750)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ZNF750 gene: 
    NM_024702.2  

    Unigene Cluster for ZNF750:

    Zinc finger protein 750
    Hs.653124  [show with all ESTs]
    Unigene Representative Sequence: NM_024702
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269394(uc002kga.3) ENST00000572562
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate ZNF750:
    hsa-miR-3121-3p hsa-miR-944 hsa-miR-412
    SwitchGear 3'UTR luciferase reporter plasmidZNF750 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ZNF750
    Predesigned siRNA for gene silencing in human, mouse, rat ZNF750
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      QuantiFast Probe-based Assays in human, mouse, rat ZNF750

    Additional mRNA sequence: 

    AK023903.1 AK301690.1 BC109036.1 BC109037.1 

    3 DOTS entries:

    DT.120974002  DT.75125132  DT.120974052 

    20 AceView cDNA sequences:

    BG740012 AI421055 AA463897 AK023903 NM_024702 AU141542 AA463364 BP358803 
    AI539029 BG945964 BF447231 AW449534 BP358831 AU159076 AW793556 BI058857 
    AW793615 BF327009 BE185769 BG998451 

    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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    ZNF750 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATATTAAAA
    ZNF750 Expression
    About this image


    ZNF750 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     Thymus (Hematopoietic System)
             Thymus
     
     Epithelial Cells
             Spinous Keratinocytes Stratified Epidermis
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    ZNF750 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZNF750 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.653124

    UniProtKB/Swiss-Prot: ZN750_HUMAN, Q32MQ0
    Tissue specificity: Expressed in the skin, prostate, lung, placenta and thymus, and at low level in T-cells. Not
    expressed in peripheral blood leukocytes, pancreas and brain. Clearly expressed in primary keratinocytes but not
    in fibroblasts

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF750

    (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 ZNF750 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zfp7501 , 5 zinc finger protein 7501, 5 76.17(n)1
    73.07(a)1
      11 (85.49 cM)5
    3195301  NM_178763.41  NP_848878.11 
     1215109785 
    chicken
    (Gallus gallus)
    Aves ZNF7501 zinc finger protein 750 63.44(n)
    57.89(a)
      101750712  XM_004946083.1  XP_004946140.1 
    lizard
    (Anolis carolinensis)
    Reptilia ZNF7506
    zinc finger protein 750
    51(a)
    1 ↔ 1
    2(108344075-108348249)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia znf7501 zinc finger protein 750 56.21(n)
    49.69(a)
      448470  NM_001004995.1  NP_001004995.1 
    zebrafish
    (Danio rerio)
    Actinopterygii znf7501 zinc finger protein 750 44.52(n)
    34.61(a)
      550483  NM_001017786.1  NP_001017786.1 


    ENSEMBL Gene Tree for ZNF750 (if available)
    TreeFam Gene Tree for ZNF750 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ZNF750 gene
    C16orf112  

    Find genes that share paralogs with ZNF750           About GenesLikeMe



    (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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    5 SNPs for ZNF750    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113709571,2
    C--76197904(+) AAAAA-/ACTTTG 1 -- int1 trp30--------
    rs346876591,2,4
    ----see VAR_0515032 mis40--------
    rs356532781,2,4
    ----see VAR_0515022 mis40--------
    rs80742771,2,4
    ----see VAR_0270622 mis40--------
    rs718185591,2
    ----76200544(+) TTTTT-/TTTT  
            
    TTTTT
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ZNF750 (80787310 - 80798454 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ZNF750:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3364n71CNV Loss21882294
    nsv909246CNV Loss21882294
    nsv833575CNV Loss17160897
    nsv909245CNV Loss21882294
    nsv428351CNV Gain18775914
    nsv833576CNV Gain17160897
    esv21913CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): ZNF750
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ZNF750
    DNA2.0 Custom Variant and Variant Library Synthesis for ZNF750

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610226   
    OMIM disorders: 610227  
    UniProtKB/Swiss-Prot: ZN750_HUMAN, Q32MQ0
  • Seborrhea-like dermatitis with psoriasiform elements (SLDP) [MIM:610227]: Characterized by a chronic fine
    diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial folds and eyebrows, around
    earlobes and over the scalp. The rash exacerbate in the winter, with emotional stress and after strenuous
    physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles and metacarpophalangeal joints is
    evident. There is no arthralgia, arthritis or neurological disorders. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 2 diseases for ZNF750:    
    About MalaCards
    seborrhea-like dermatitis with psoriasiform elements    dermatitis

    1 disease from the University of Copenhagen DISEASES database for ZNF750:
    Seborrheic dermatitis

    Find genes that share disorders with ZNF750           About GenesLikeMe


    Export disorders for ZNF750 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 ZNF750 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with ZNF750)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein. (PubMed id 16751772)1, 2, 3 Birnbaum R.Y.... Birk O.S. (Nat. Genet. 2006)
    2. ZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal differentiation. (PubMed id 22364861)1, 2 Sen G.L.... Khavari P.A. (Dev. Cell 2012)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. ZNF750 is expressed in differentiated keratinocytes and regulates epidermal late differentiation genes. (PubMed id 22936986)1 Cohen I....Birk O.S. (PLoS ONE 2012)
    7. Association analysis identifies ZNF750 regulatory variants in psoriasis. (PubMed id 22185198)1 Birnbaum R.Y....Liao W. (BMC Med. Genet. 2011)
    8. A promoter sequence variant of ZNF750 is linked with familial psoriasis. (PubMed id 18256691)1 Yang C.F....Chen Y.T. (J. Invest. Dermatol. 2008)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    10. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)

    (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: 79755 HGNC: 25843 AceView: FLJ13841 Ensembl:ENSG00000141579 euGenes: HUgn79755
    ECgene: ZNF750 H-InvDB: ZNF750

    (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 ZNF750 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 ZNF750 gene:
    Search GeneIP for patents involving ZNF750

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    (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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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