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    ZNF251 zinc finger protein 251 [ Homo sapiens (human) ]

    Gene ID: 90987, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF251provided by HGNC
    Official Full Name
    zinc finger protein 251provided by HGNC
    Primary source
    HGNC:HGNC:13045
    See related
    Ensembl:ENSG00000198169 AllianceGenome:HGNC:13045
    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
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic stem cell homeostasis. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 6.9), thyroid (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF251 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144720909..144755531, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145894425..145929038, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145946294..145980916, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19707 Neighboring gene Rho GTPase activating protein 39 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:145795054-145796253 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145816391-145816972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145816973-145817554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145879634-145880145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145880146-145880656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145899251-145899750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145909098-145909710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145909711-145910323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145910937-145911548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145912735-145913607 Neighboring gene Sharpr-MPRA regulatory region 12231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145918540-145919362 Neighboring gene uncharacterized LOC100996662 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:145926819-145928018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145959413-145960300 Neighboring gene uncharacterized LOC107986986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145987405-145988352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145990589-145991192 Neighboring gene uncharacterized LOC105375805 Neighboring gene Sharpr-MPRA regulatory region 4846 Neighboring gene Sharpr-MPRA regulatory region 10254 Neighboring gene RNA, 7SL, cytoplasmic 395, pseudogene Neighboring gene zinc finger protein 34

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Non-erythroid beta spectrin interacting proteins and their effects on spectrin tetramerization. Sevinc A, et al. Cell Mol Biol Lett, 2011 Dec. PMID 21866423, Free PMC Article
    2. FEZ1 dimerization and interaction with transcription regulatory proteins involves its coiled-coil region. Assmann EM, et al. J Biol Chem, 2006 Apr 14. PMID 16484223
    3. MxA interacts with and is modified by the SUMOylation machinery. Brantis-de-Carvalho CE, et al. Exp Cell Res, 2015 Jan 1. PMID 25447205
    4. ANKRD13a controls early cell-death checkpoint by interacting with RIP1 independent of NF-κB. Won M, et al. Cell Death Differ, 2022 Jun. PMID 34839354, Free PMC Article
    5. Yeast two-hybrid screening identified WDR77 as a novel interacting partner of TSC22D2. Li Q, et al. Tumour Biol, 2016 Sep. PMID 27337956

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34319

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 251

    NCBI Reference Sequences (RefSeq)

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    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_138367.2 → NP_612376.1  zinc finger protein 251

      See identical proteins and their annotated locations for NP_612376.1

      Status: VALIDATED

      Source sequence(s)
      AK000435, BC006258, BU674002, BX509447, DA775010, DA811573
      Consensus CDS
      CCDS47944.1
      UniProtKB/Swiss-Prot
      Q2M219, Q9BRH9
      Related
      ENSP00000292562.7, ENST00000292562.12
      Conserved Domains (3) summary
      smart00349
      Location:15 → 75
      KRAB; krueppel associated box
      COG5048
      Location:207 → 635
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:435 → 455
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144720909..144755531 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447324.2 → XP_024303092.1  zinc finger protein 251 isoform X1

      UniProtKB/Swiss-Prot
      Q2M219, Q9BRH9
      Conserved Domains (3) summary
      smart00349
      Location:15 → 75
      KRAB; krueppel associated box
      COG5048
      Location:207 → 635
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:435 → 455
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. XM_005272356.5 → XP_005272413.1  zinc finger protein 251 isoform X3

      See identical proteins and their annotated locations for XP_005272413.1

      Conserved Domains (2) summary
      smart00349
      Location:15 → 75
      KRAB; krueppel associated box
      pfam01352
      Location:15 → 54
      KRAB; KRAB box

    3. XM_047422403.1 → XP_047278359.1  zinc finger protein 251 isoform X3

    4. XM_047422404.1 → XP_047278360.1  zinc finger protein 251 isoform X4

    5. XM_011517361.3 → XP_011515663.1  zinc finger protein 251 isoform X2

      Conserved Domains (2) summary
      smart00349
      Location:15 → 75
      KRAB; krueppel associated box
      pfam01352
      Location:15 → 54
      KRAB; KRAB box

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187569.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      95392..132065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328712.1 → XP_054184687.1  zinc finger protein 251 isoform X1

      UniProtKB/Swiss-Prot
      Q2M219, Q9BRH9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145894425..145929038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361473.1 → XP_054217448.1  zinc finger protein 251 isoform X1

      UniProtKB/Swiss-Prot
      Q2M219, Q9BRH9

    2. XM_054361477.1 → XP_054217452.1  zinc finger protein 251 isoform X4

    3. XM_054361475.1 → XP_054217450.1  zinc finger protein 251 isoform X3

    4. XM_054361476.1 → XP_054217451.1  zinc finger protein 251 isoform X3

    5. XM_054361474.1 → XP_054217449.1  zinc finger protein 251 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRH9.4 GenPept UniProtKB/Swiss-Prot:Q9BRH9

    Gene LinkOut

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

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