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    ZNF214 zinc finger protein 214 [ Homo sapiens (human) ]

    Gene ID: 7761, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF214provided by HGNC
    Official Full Name
    zinc finger protein 214provided by HGNC
    Primary source
    HGNC:HGNC:13006
    See related
    Ensembl:ENSG00000149050 MIM:605015; AllianceGenome:HGNC:13006
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BAZ1; BAZ-1
    Summary
    This gene is expressed predominantly in the testis and encodes a zinc finger protein that contains an N-terminal kruppel-associated box A (KRABA) domain and twelve zinc finger domains. This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. [provided by RefSeq, Aug 2017]
    Expression
    Broad expression in testis (RPKM 1.5), thyroid (RPKM 1.5) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF214 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6997085..7020346, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (7055490..7078724, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (7018316..7041577, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984019 Neighboring gene olfactory receptor family 2 subfamily D member 3 Neighboring gene zinc finger protein 215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:6975277-6975778 Neighboring gene uncharacterized LOC102724711 Neighboring gene Sharpr-MPRA regulatory region 9308 Neighboring gene NLR family pyrin domain containing 14 Neighboring gene Sharpr-MPRA regulatory region 5166 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:7098372-7098571 Neighboring gene Sharpr-MPRA regulatory region 4980 Neighboring gene RBMX like 2 Neighboring gene microRNA 302e

    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. A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene. Sofos E, et al. Am J Med Genet A, 2012 Jan. PMID 22052655
    2. Morphogenetic targets and genetics of undescended testis. Massart F, et al. Sex Dev, 2010. PMID 20980787
    3. Chromosomal region 11p15 is associated with male factor subfertility. Gianotten J, et al. Mol Hum Reprod, 2003 Oct. PMID 12970396
    4. Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome. Alders M, et al. Am J Hum Genet, 2000 May. PMID 10762538, Free PMC Article
    5. An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. Redeker E, et al. Genomics, 1994 Jun. PMID 7959730

    See all (15) 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 214
    Names
    BWSCR2-associated zinc finger protein 1

    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_001354830.2 → NP_001341759.1  zinc finger protein 214 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100875, BC144405, CA313222
      Conserved Domains (3) summary
      COG5048
      Location:246 → 587
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:483 → 503
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:14 → 53
      KRAB; KRAB box

    2. NM_001354831.2 → NP_001341760.1  zinc finger protein 214 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC100875, CA313222
      Consensus CDS
      CCDS31418.1
      UniProtKB/Swiss-Prot
      B2R8Q1, Q9UL59
      Related
      ENSP00000445373.1, ENST00000536068.5
      Conserved Domains (3) summary
      COG5048
      Location:235 → 576
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:472 → 492
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:3 → 42
      KRAB; KRAB box

    3. NM_001354832.2 → NP_001341761.1  zinc finger protein 214 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC100875, AK313462, CA313222
      Consensus CDS
      CCDS31418.1
      UniProtKB/Swiss-Prot
      B2R8Q1, Q9UL59
      Conserved Domains (3) summary
      COG5048
      Location:235 → 576
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:472 → 492
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:3 → 42
      KRAB; KRAB box

    4. NM_001354833.2 → NP_001341762.1  zinc finger protein 214 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC100875, CA313222, DA299430
      Conserved Domains (2) summary
      COG5048
      Location:221 → 562
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:458 → 478
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. NM_013249.4 → NP_037381.2  zinc finger protein 214 isoform 2

      See identical proteins and their annotated locations for NP_037381.2

      Status: REVIEWED

      Source sequence(s)
      AA678604, AC100875, AF056617, CA313222, DB262997
      Consensus CDS
      CCDS31418.1
      UniProtKB/Swiss-Prot
      B2R8Q1, Q9UL59
      Related
      ENSP00000278314.4, ENST00000278314.5
      Conserved Domains (3) summary
      COG5048
      Location:235 → 576
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:472 → 492
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:3 → 42
      KRAB; KRAB box

    RNA

    1. NR_148988.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC100875, BX096368
      Related
      ENST00000525017.1

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      6997085..7020346 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718309.5 → XP_006718372.1  zinc finger protein 214 isoform X2

      See identical proteins and their annotated locations for XP_006718372.1

      Conserved Domains (2) summary
      COG5048
      Location:221 → 562
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:458 → 478
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. XM_047427565.1 → XP_047283521.1  zinc finger protein 214 isoform X1

      UniProtKB/Swiss-Prot
      B2R8Q1, Q9UL59

    3. XM_017018269.3 → XP_016873758.1  zinc finger protein 214 isoform X2

      Conserved Domains (2) summary
      COG5048
      Location:221 → 562
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:458 → 478
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. XM_011520357.4 → XP_011518659.1  zinc finger protein 214 isoform X2

      See identical proteins and their annotated locations for XP_011518659.1

      Conserved Domains (2) summary
      COG5048
      Location:221 → 562
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:458 → 478
      ZF_C2H2; C2H2 Zn finger [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      7055490..7078724 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369901.1 → XP_054225876.1  zinc finger protein 214 isoform X2

    2. XM_054369899.1 → XP_054225874.1  zinc finger protein 214 isoform X1

      UniProtKB/TrEMBL
      B7ZMB1

    3. XM_054369900.1 → XP_054225875.1  zinc finger protein 214 isoform X2

    4. XM_054369902.1 → XP_054225877.1  zinc finger protein 214 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UL59.2 GenPept UniProtKB/Swiss-Prot:Q9UL59

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