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    ZNF250 zinc finger protein 250 [ Homo sapiens (human) ]

    Gene ID: 58500, updated on 5-May-2013
    Official Symbol
    ZNF250provided by HGNC
    Official Full Name
    zinc finger protein 250provided by HGNC
    Primary source
    HGNC:13044
    See related
    Ensembl:ENSG00000196150; HPRD:15758; Vega:OTTHUMG00000165252
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZFP647; ZNF647
    Location :
    8q24.3
    Sequence :
    Chromosome: 8; NC_000008.10 (146102336..146126846, complement)
    See ZNF250 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 7 Neighboring gene COMM domain containing 5 Neighboring gene zinc finger protein 16 Neighboring gene zinc finger protein 252, pseudogene Neighboring gene transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    2. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Hutchins JR, et al. Science, 2010 Apr 30. PMID 20360068.
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.
    4. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514.
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.

    See all (7) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    P15622 Brain enriched guanylate kinase associated protein BEGAIN    HPRD  PubMed  
    P15622 Q15834 CCDC85B    HPRD  PubMed  
    P15622 Q9C0F1 CEP44    HPRD  PubMed  
    P15622 Q7Z7J5 DPPA2    HPRD  PubMed  
    P15622 O14641 DVL2    HPRD  PubMed  
    P15622 Q08379 GOLGA2    HPRD  PubMed  
    P15622 Q9UJC3 HOOK1    HPRD  PubMed  
    P15622 Q96ED9 HOOK2    HPRD  PubMed  
    P15622 Q9BQ66 KRTAP4-12    HPRD  PubMed  
    P15622 O95751 LDOC1    HPRD  PubMed  
    P15622 KIAA0980 protein NINL    HPRD  PubMed  
    P15622 P36406 TRIM23    HPRD  PubMed  
    P15622 Q8NAP8 ZBTB8B    HPRD  PubMed  
    P15622 P49910 ZNF165    HPRD  PubMed  
    BioGRID:121830 BioGRID:121647 BEGAIN    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:116198 CCDC85B    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:123315 CEP44    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:127407 DPPA2    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:108189 DVL2    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:109063 GOLGA2    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:119496 HOOK1    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:118957 HOOK2    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:123756 KRTAP4-12    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:117169 LDOC1    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:116630 NINL    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:112992 TNNT1    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:106868 TRIM23    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:204197 Trim28    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121830 BioGRID:575543 ZBTB8A    BioGRID  PubMed Two-hybrid 
    BioGRID:121830 BioGRID:113511 ZNF165    BioGRID  PubMed Two-hybrid 
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC9718, FLJ57354, MGC111123

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    zinc finger protein 250
    Names
    zinc finger protein 250
    zinc finger protein 647
    zinc finger protein (clone 647)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001109689.3 → NP_001103159.1  zinc finger protein 250 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b).
      Source sequence(s)
      AB208810, AF235103, AK054888, CA422363, DB272357
      Consensus CDS
      CCDS55282.1
      UniProtKB/TrEMBL
      B3KNS9
      UniProtKB/Swiss-Prot
      P15622
      Conserved Domains (4) summary
      COG5048
      Location:173 – 524
      Blast Score: 141
      COG5048; FOG: Zn-finger [General function prediction only]
      cd07765
      Location:17 – 56
      Blast Score: 177
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box.
      smart00349
      Location:17 – 77
      Blast Score: 275
      KRAB; krueppel associated box
      pfam13465
      Location:208 – 233
      Blast Score: 93
      zf-H2C2_2; Zinc-finger double domain

    2. NM_021061.4 → NP_066405.1  zinc finger protein 250 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF235103, AK054888, BC017091, CA422363, DB272357
      Consensus CDS
      CCDS34972.1
      UniProtKB/TrEMBL
      B3KNS9
      UniProtKB/Swiss-Prot
      P15622
      Related
      ENSP00000292579, OTTHUMP00000229082, ENST00000292579, OTTHUMT00000382968
      Conserved Domains (4) summary
      COG5048
      Location:178 – 529
      Blast Score: 140
      COG5048; FOG: Zn-finger [General function prediction only]
      cd07765
      Location:22 – 61
      Blast Score: 177
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box.
      smart00349
      Location:22 – 82
      Blast Score: 275
      KRAB; krueppel associated box
      pfam13465
      Location:213 – 238
      Blast Score: 94
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p10 Primary Assembly

      Range
      146102336..146126846, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      141218182..141242687, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018919.1 Alternate CHM1_1.0

      Range
      146371816..146396327, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01005194.1 (42435..66940) None
    genomic AF235103.5 (179915..204425) None
    genomic AMYH01019163.1 (106335..130846) None
    genomic CH471162.2 EAW82029.1
      EAW82030.1
      EAW82031.1
      EAW82032.1
    mRNA AB208810.1 BAD92047.1
    mRNA AK054888.1 BAG51441.1
    mRNA AK095705.1 BAC04614.1
    mRNA AK294282.1 BAG57567.1
    mRNA BC017091.1 AAH17091.2
    mRNA BC107579.1 AAI07580.1
    mRNA BX648173.1 None
    mRNA CA422363.1 None
    mRNA DB206757.1 None
    mRNA DB272357.1 None
    mRNA DC314684.1 None
    mRNA X16282.1 CAA34358.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15622.3 GenPept UniProtKB/Swiss-Prot:P15622

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

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