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

Gene ID: 90987, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in endometrium (RPKM 6.9), thyroid (RPKM 6.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
8q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144720909..144755531, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145894425..145929038, complement)
105.20220307 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
  • 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 (21) 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_2023_10

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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