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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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