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    ZFR2 zinc finger RNA binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 23217, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZFR2provided by HGNC
    Official Full Name
    zinc finger RNA binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:29189
    See related
    Ensembl:ENSG00000105278 MIM:619284; AllianceGenome:HGNC:29189
    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
    KIAA1086
    Summary
    Predicted to enable double-stranded RNA binding activity and single-stranded RNA binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 2.0), brain (RPKM 1.5) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See ZFR2 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3804024..3869038, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3783293..3848231, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3804022..3869036, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3770519-3771018 Neighboring gene MPRA-validated peak3254 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3784812-3785807 Neighboring gene retina and anterior neural fold homeobox 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3787338-3787536 Neighboring gene MPRA-validated peak3255 silencer Neighboring gene megakaryocyte-associated tyrosine kinase Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3809153-3809388 Neighboring gene Sharpr-MPRA regulatory region 15218 Neighboring gene MPRA-validated peak3257 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3831251-3831840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3843229-3843728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3849523-3850024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3871123-3871622 Neighboring gene Sharpr-MPRA regulatory region 13254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3880358-3880888 Neighboring gene ferritin light chain pseudogene 5 Neighboring gene ATCAY kinesin light chain interacting caytaxin Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3912272-3912471 Neighboring gene RNA, 7SL, cytoplasmic 202, pseudogene

    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. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Kikuno R, et al. DNA Res, 1999 Jun 30. PMID 10470851
    2. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    3. Panorama of ancient metazoan macromolecular complexes. Wan C, et al. Nature, 2015 Sep 17. PMID 26344197, Free PMC Article
    4. 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, Free PMC Article
    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, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1086

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger RNA-binding protein 2

    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_001145640.2 → NP_001139112.1  zinc finger RNA-binding protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) originates from the same promoter and has the same first exon and presumed translation initiation site, which has a good Kozak signal, as variant 1. However, this transcript represents an alternate second, terminal exon and the predicted protein (isoform 2) is significantly shorter than and has a distinct C-terminus as compared to isoform 1.
      Source sequence(s)
      AC093078, BC034005, DA333602
      Consensus CDS
      CCDS45922.1
      UniProtKB/Swiss-Prot
      Q9UPR6
      Related
      ENSP00000388567.1, ENST00000439086.2

    2. NM_015174.2 → NP_055989.1  zinc finger RNA-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_055989.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is a longer transcript and encodes the full-length protein (isoform 1).
      Source sequence(s)
      AB029009, AC004598, AC005777, AC093078, DA333602
      Consensus CDS
      CCDS45921.1
      UniProtKB/Swiss-Prot
      B4DHD0, Q9UPR6
      Related
      ENSP00000262961.3, ENST00000262961.9
      Conserved Domains (3) summary
      smart00572
      Location:652 → 904
      DZF; domain in DSRM or ZnF_C2H2 domain containing proteins
      smart00451
      Location:271 → 300
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:273 → 295
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RNA

    1. NR_027149.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) originates from the same promoter and has the same first exon as variant 1. THis transcript includes an alternate exon which renders the transcript a candidate for nonsense-mediated decay (NMD) and so a protein is not annotated.
      Source sequence(s)
      AC093078, AL365406, DA333602
      Related
      ENST00000586578.1

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      3804024..3869038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527831.3 → XP_011526133.1  zinc finger RNA-binding protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011526133.1

      Conserved Domains (3) summary
      smart00572
      Location:652 → 905
      DZF; domain in DSRM or ZnF_C2H2 domain containing proteins
      smart00451
      Location:271 → 300
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:273 → 295
      ZF_C2H2; C2H2 Zn finger [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      3783293..3848231 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320356.1 → XP_054176331.1  zinc finger RNA-binding protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UPR6.3 GenPept UniProtKB/Swiss-Prot:Q9UPR6

    Gene LinkOut

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

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