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    ZNF215 zinc finger protein 215 [ Homo sapiens (human) ]

    Gene ID: 7762, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF215provided by HGNC
    Official Full Name
    zinc finger protein 215provided by HGNC
    Primary source
    HGNC:HGNC:13007
    See related
    Ensembl:ENSG00000149054 MIM:605016; AllianceGenome:HGNC:13007
    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
    BAZ2; BAZ-2; ZSCAN43; ZKSCAN11
    Summary
    This gene is imprinted in a tissue-specific manner with preferential expression in the testis, and encodes a zinc finger protein that belongs to a family of zinc finger transcription factors. The encoded protein contains an N-terminal SRE-ZBP, Ctfin51, AW-1, and Number 18 (SCAN) domain, a kruppel-associated box A (KRABA) domain, and four C-terminal 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 lymph node (RPKM 2.4), colon (RPKM 1.6) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF215 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6926426..6994423)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (6984842..7047347)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6947657..7010161)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984019 Neighboring gene olfactory receptor family 2 subfamily D member 2 Neighboring gene olfactory receptor family 2 subfamily D member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:6975277-6975778 Neighboring gene uncharacterized LOC102724711 Neighboring gene Sharpr-MPRA regulatory region 9308 Neighboring gene zinc finger protein 214 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

    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. CircZNF215 promotes tumor growth and metastasis through inactivation of the PTEN/AKT pathway in intrahepatic cholangiocarcinoma. Liao W, et al. J Exp Clin Cancer Res, 2023 May 18. PMID 37198696, Free PMC Article
    2. Loss of ZNF215 imprinting is associated with poor five-year survival in patients with cytogenetically abnormal-acute myeloid leukemia. Yang MY, et al. Blood Cells Mol Dis, 2021 Sep. PMID 34091126
    3. The SCAN domain defines a large family of zinc finger transcription factors. Sander TL, et al. Gene, 2003 May 22. PMID 12801630
    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. Chromosomal region 11p15 is associated with male factor subfertility. Gianotten J, et al. Mol Hum Reprod, 2003 Oct. PMID 12970396

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircZNF215 promotes tumor growth and metastasis through inactivation of the PTEN/AKT pathway in intrahepatic cholangiocarcinoma.
      Title: CircZNF215 promotes tumor growth and metastasis through inactivation of the PTEN/AKT pathway in intrahepatic cholangiocarcinoma.
    2. Loss of ZNF215 imprinting is associated with poor five-year survival in patients with cytogenetically abnormal-acute myeloid leukemia.
      Title: Loss of ZNF215 imprinting is associated with poor five-year survival in patients with cytogenetically abnormal-acute myeloid leukemia.
    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

    EBI GWAS Catalog

    Description
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    EBI GWAS Catalog

    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 transcription factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    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 215
    Names
    BWSCR2-associated zinc finger protein 2
    zinc finger protein with KRAB and SCAN domains 11

    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_001354853.2 → NP_001341782.1  zinc finger protein 215 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC090160
      Consensus CDS
      CCDS7775.1
      UniProtKB/Swiss-Prot
      Q96C84, Q9UL58
      Related
      ENSP00000393202.2, ENST00000414517.6
      Conserved Domains (6) summary
      smart00349
      Location:164 → 226
      KRAB; krueppel associated box
      COG5048
      Location:436 → 517
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:381 → 401
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:379 → 401
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:44 → 132
      SCAN; SCAN domain
      pfam13465
      Location:393 → 418
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001354854.1 → NP_001341783.1  zinc finger protein 215 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090160, AC100875, BC014538
      Consensus CDS
      CCDS86177.1
      Related
      ENSP00000432306.1, ENST00000529903.1
      Conserved Domains (2) summary
      smart00349
      Location:164 → 226
      KRAB; krueppel associated box
      pfam02023
      Location:44 → 132
      SCAN; SCAN domain

    3. NM_001354855.2 → NP_001341784.1  zinc finger protein 215 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC090160, AK302639
      Conserved Domains (4) summary
      COG5048
      Location:210 → 291
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:155 → 175
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:153 → 175
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:250 → 275
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001354856.2 → NP_001341785.1  zinc finger protein 215 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC090160
      Conserved Domains (4) summary
      COG5048
      Location:210 → 291
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:155 → 175
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:153 → 175
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:250 → 275
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001354857.2 → NP_001341786.1  zinc finger protein 215 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC090160
      Conserved Domains (4) summary
      COG5048
      Location:210 → 291
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:155 → 175
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:153 → 175
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:250 → 275
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001354858.2 → NP_001341787.1  zinc finger protein 215 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090160
      Conserved Domains (4) summary
      COG5048
      Location:198 → 279
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:143 → 163
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:141 → 163
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:238 → 263
      zf-H2C2_2; Zinc-finger double domain

    7. NM_001354859.2 → NP_001341788.1  zinc finger protein 215 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090160
      Conserved Domains (4) summary
      COG5048
      Location:198 → 279
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:143 → 163
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:141 → 163
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:238 → 263
      zf-H2C2_2; Zinc-finger double domain

    8. NM_001354860.2 → NP_001341789.1  zinc finger protein 215 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090160, AK298365
      Conserved Domains (4) summary
      COG5048
      Location:198 → 279
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:143 → 163
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:141 → 163
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:238 → 263
      zf-H2C2_2; Zinc-finger double domain

    9. NM_013250.4 → NP_037382.2  zinc finger protein 215 isoform 1

      See identical proteins and their annotated locations for NP_037382.2

      Status: REVIEWED

      Source sequence(s)
      AC090160, AF056618, CN483744
      Consensus CDS
      CCDS7775.1
      UniProtKB/Swiss-Prot
      Q96C84, Q9UL58
      Related
      ENSP00000278319.5, ENST00000278319.10
      Conserved Domains (6) summary
      smart00349
      Location:164 → 226
      KRAB; krueppel associated box
      COG5048
      Location:436 → 517
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:381 → 401
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:379 → 401
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:44 → 132
      SCAN; SCAN domain
      pfam13465
      Location:393 → 418
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_149005.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090160, AC100875
      Related
      ENST00000636097.1

    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
      6926426..6994423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427572.1 → XP_047283528.1  zinc finger protein 215 isoform X2

    2. XM_047427571.1 → XP_047283527.1  zinc finger protein 215 isoform X2

    3. XM_024448683.2 → XP_024304451.1  zinc finger protein 215 isoform X2

      Conserved Domains (2) summary
      smart00349
      Location:164 → 226
      KRAB; krueppel associated box
      pfam02023
      Location:44 → 132
      SCAN; SCAN domain

    4. XM_047427569.1 → XP_047283525.1  zinc finger protein 215 isoform X1

      UniProtKB/Swiss-Prot
      Q96C84, Q9UL58

    5. XM_047427566.1 → XP_047283522.1  zinc finger protein 215 isoform X1

      UniProtKB/Swiss-Prot
      Q96C84, Q9UL58

    6. XM_047427567.1 → XP_047283523.1  zinc finger protein 215 isoform X1

      UniProtKB/Swiss-Prot
      Q96C84, Q9UL58

    7. XM_047427568.1 → XP_047283524.1  zinc finger protein 215 isoform X1

      UniProtKB/Swiss-Prot
      Q96C84, Q9UL58

    8. XM_047427570.1 → XP_047283526.1  zinc finger protein 215 isoform X1

      UniProtKB/Swiss-Prot
      Q96C84, Q9UL58

    RNA

    1. XR_002957191.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      6984842..7047347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369910.1 → XP_054225885.1  zinc finger protein 215 isoform X2

    2. XM_054369909.1 → XP_054225884.1  zinc finger protein 215 isoform X2

    3. XM_054369908.1 → XP_054225883.1  zinc finger protein 215 isoform X2

    4. XM_054369906.1 → XP_054225881.1  zinc finger protein 215 isoform X1

    5. XM_054369903.1 → XP_054225878.1  zinc finger protein 215 isoform X1

    6. XM_054369904.1 → XP_054225879.1  zinc finger protein 215 isoform X1

    7. XM_054369905.1 → XP_054225880.1  zinc finger protein 215 isoform X1

    8. XM_054369907.1 → XP_054225882.1  zinc finger protein 215 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UL58.2 GenPept UniProtKB/Swiss-Prot:Q9UL58

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