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    ZNF248 zinc finger protein 248 [ Homo sapiens (human) ]

    Gene ID: 57209, updated on 9-Jun-2013
    Official Symbol
    ZNF248provided by HGNC
    Official Full Name
    zinc finger protein 248provided by HGNC
    Primary source
    HGNC:13041
    Locus tag
    RP11-162G10.6
    See related
    Ensembl:ENSG00000198105; HPRD:15757; Vega:OTTHUMG00000017980
    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
    bA162G10.3
    Location :
    10p11.2
    Sequence :
    Chromosome: 10; NC_000010.10 (38065454..38147012, complement)
    See ZNF248 in Epigenomics

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene MT-ND1 pseudogene 18 Neighboring gene MT-RNR2-like 7 Neighboring gene zinc finger protein 33B pseudogene 1 Neighboring gene tousled-like kinase 2 pseudogene 2 Neighboring gene zinc finger protein 33A pseudogene 1 Neighboring gene zinc finger protein 37C, pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. Udeshi ND, et al. Mol Cell Proteomics, 2012 May. PMID 22505724.
    2. Common body mass index-associated variants confer risk of extreme obesity. Cotsapas C, et al. Hum Mol Genet, 2009 Sep 15. PMID 19553259.
    3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451.
    4. Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p. Guy J, et al. Genome Res, 2003 Feb. PMID 12566394.
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932.

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

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

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:121447 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • 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

    Homology

    Clone Names

    • KIAA0137, MGC131882

    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 248
    Names
    zinc finger protein 248
    KRAB protein domain
    Kruppel-type zinc finger protein
    bA162G10.3 (zinc finger protein)

    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_001267597.1 → NP_001254526.1  zinc finger protein 248 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA836603, AJ491695, AK299357
      Consensus CDS
      CCDS7194.1
      UniProtKB/TrEMBL
      A2RUI7
      UniProtKB/Swiss-Prot
      Q8NDW4
      Conserved Domains (4) summary
      COG5048
      Location:406 – 472
      Blast Score: 91
      COG5048; FOG: Zn-finger [General function prediction only]
      cd07765
      Location:8 – 46
      Blast Score: 188
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box.
      smart00349
      Location:8 – 68
      Blast Score: 308
      KRAB; krueppel associated box
      pfam13465
      Location:394 – 417
      Blast Score: 95
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001267605.1 → NP_001254534.1  zinc finger protein 248 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks a segment in the 3' region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA836603, AJ491695, AJ492196, DB073240
      Consensus CDS
      CCDS58077.1
      UniProtKB/Swiss-Prot
      Q8NDW4
      Conserved Domains (2) summary
      cd07765
      Location:8 – 46
      Blast Score: 167
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box.
      smart00349
      Location:8 – 68
      Blast Score: 273
      KRAB; krueppel associated box

    3. NM_001267606.1 → NP_001254535.1  zinc finger protein 248 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has additional segments in the 5' UTR and lacks a segment in the 3' region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA836603, AJ491695, AL135791, BC110869
      Consensus CDS
      CCDS58077.1
      UniProtKB/Swiss-Prot
      Q8NDW4
      Conserved Domains (2) summary
      cd07765
      Location:8 – 46
      Blast Score: 167
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box.
      smart00349
      Location:8 – 68
      Blast Score: 273
      KRAB; krueppel associated box

    4. NM_001267607.1 → NP_001254536.1  zinc finger protein 248 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC132915, DA128760, DB073240
      UniProtKB/TrEMBL
      A2RUI7
      Conserved Domains (2) summary
      cd07765
      Location:8 – 46
      Blast Score: 168
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box.
      smart00349
      Location:8 – 68
      Blast Score: 276
      KRAB; krueppel associated box

    5. NM_021045.2 → NP_066383.1  zinc finger protein 248 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the longest isoform (1).
      Source sequence(s)
      AA836603, AJ491695, DB073240
      Consensus CDS
      CCDS7194.1
      UniProtKB/TrEMBL
      A2RUI7
      UniProtKB/Swiss-Prot
      Q8NDW4
      Related
      ENSP00000379208, OTTHUMP00000019463, ENST00000395867, OTTHUMT00000047609
      Conserved Domains (4) summary
      COG5048
      Location:406 – 472
      Blast Score: 91
      COG5048; FOG: Zn-finger [General function prediction only]
      cd07765
      Location:8 – 46
      Blast Score: 188
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box.
      smart00349
      Location:8 – 68
      Blast Score: 308
      KRAB; krueppel associated box
      pfam13465
      Location:394 – 417
      Blast Score: 95
      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_000010.10 Reference GRCh37.p10 Primary Assembly

      Range
      38065454..38147012, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      37773361..37854952, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018921.1 Alternate CHM1_1.0

      Range
      37962465..38044022, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01033294.1 (16248..30529) None
    genomic ABBA01033295.1 None
    genomic ABBA01033296.1 None
    genomic AJ245586.1 CAB52478.1
    genomic AJ245587.1 CAB52547.1
    genomic AL132657.33 (142994..160743) None
    genomic AL135791.12 (100..63908) None
    genomic AMYH01002259.1 (584724..666281) None
    genomic CH471072.2 EAW85896.1
      EAW85897.1
      EAW85898.1
      EAW85899.1
    mRNA AA836603.1 None
    mRNA AJ491695.1 CAD36954.1
    mRNA AJ492196.1 CAD37332.1
    mRNA AK293936.1 BAG57314.1
    mRNA AK293971.1 BAG57343.1
    mRNA AK299357.1 BAG61352.1
    mRNA AL049341.1 None
    mRNA BC021819.1 AAH21819.1
    mRNA BC110869.1 AAI10870.1
    mRNA BC132915.1 AAI32916.1
    mRNA BC132917.1 AAI32918.1
    mRNA BC146820.1 AAI46821.1
    mRNA DA128760.1 None
    mRNA DB073240.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NDW4.1 GenPept UniProtKB/Swiss-Prot:Q8NDW4

    Gene LinkOut

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

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