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

Gene ID: 7762, updated on 3-Nov-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 (20) 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)

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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