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    ZNF2 zinc finger protein 2 [ Homo sapiens (human) ]

    Gene ID: 7549, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF2provided by HGNC
    Official Full Name
    zinc finger protein 2provided by HGNC
    Primary source
    HGNC:HGNC:12991
    See related
    Ensembl:ENSG00000275111 MIM:194500; AllianceGenome:HGNC:12991
    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
    A1-5; ZNF661; Zfp661
    Summary
    The protein encoded by this gene belongs to the C2H2-type zinc-finger protein family. The exact function of this gene is not known, however, zinc-finger proteins are known to interact with DNA and function as transcription regulators. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
    Expression
    Ubiquitous expression in testis (RPKM 1.8), thyroid (RPKM 1.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q11.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (95165809..95184317)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (95672291..95690797)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (95831554..95850065)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr2:95753198-95753763 Neighboring gene mitochondrial ribosomal protein S5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11739 Neighboring gene zinc finger protein 514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11740 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:95830542-95831178 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:95831179-95831813 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95843643-95844143 Neighboring gene zinc finger protein 2-like Neighboring gene solute carrier family 2 pseudogene 1

    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. Expression, purification and partial characterization of the Krüppel-associated box (KRAB) from the human ZNF2 protein. Rivieccio V, et al. Protein Pept Lett, 2005 Aug. PMID 16101389
    2. The human KRAB/FPB containing zinc finger gene ZNF2 maps to chromosome 2q11.2. Rocchi M, et al. Cytogenet Cell Genet, 1999. PMID 10575230
    3. The Krüppel-associated box-A (KRAB-A) domain of zinc finger proteins mediates transcriptional repression. Witzgall R, et al. Proc Natl Acad Sci U S A, 1994 May 10. PMID 8183940, Free PMC Article
    4. Members of the zinc finger protein gene family sharing a conserved N-terminal module. Rosati M, et al. Nucleic Acids Res, 1991 Oct 25. PMID 1945843, Free PMC Article
    5. A novel member of the RING finger family, KRIP-1, associates with the KRAB-A transcriptional repressor domain of zinc finger proteins. Kim SS, et al. Proc Natl Acad Sci U S A, 1996 Dec 24. PMID 8986806, Free PMC Article

    See all (22) 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 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 protein binding IPI
    Inferred from Physical Interaction
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 2
    Names
    zinc finger protein 2.2
    zinc finger protein 661

    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.

    Genomic

    1. NG_033798.1 RefSeqGene

      Range
      5393..23901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017396.3 → NP_001017396.1  zinc finger protein 2 isoform b

      See identical proteins and their annotated locations for NP_001017396.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AC092835, AI631860, AK295739, AV726545, X60152
      Consensus CDS
      CCDS42713.1
      UniProtKB/Swiss-Prot
      Q9BSG1
      UniProtKB/TrEMBL
      B0AZN8
      Related
      ENSP00000480057.1, ENST00000617923.4
      Conserved Domains (5) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:144 → 370
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:189 → 209
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:299 → 321
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:145 → 170
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001282398.2 → NP_001269327.1  zinc finger protein 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AC092835, AI631860, AK295739, AV726545, X60152
      Consensus CDS
      CCDS62957.1
      UniProtKB/Swiss-Prot
      Q9BSG1
      UniProtKB/TrEMBL
      A0A087X063
      Related
      ENSP00000483131.1, ENST00000622059.4
      Conserved Domains (6) summary
      smart00349
      Location:14 → 60
      KRAB; krueppel associated box
      COG5048
      Location:148 → 374
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:193 → 213
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:136 → 157
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam13465
      Location:149 → 174
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001291604.2 → NP_001278533.1  zinc finger protein 2 isoform d

      See identical proteins and their annotated locations for NP_001278533.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AC092835, AI631860, CR749650
      Consensus CDS
      CCDS77435.1
      UniProtKB/TrEMBL
      Q68CY6
      Related
      ENSP00000477960.1, ENST00000611463.1
      Conserved Domains (3) summary
      COG5048
      Location:106 → 332
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:151 → 171
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:107 → 132
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001291605.2 → NP_001278534.1  zinc finger protein 2 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (e) is longer than isoform a.
      Source sequence(s)
      AC092835, AI631860, AK299058, DA497792, KF459620
      Consensus CDS
      CCDS77434.1
      UniProtKB/TrEMBL
      A0A087WYR5
      Related
      ENSP00000482030.1, ENST00000611147.1
      Conserved Domains (6) summary
      smart00349
      Location:14 → 74
      KRAB; krueppel associated box
      COG5048
      Location:199 → 425
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:244 → 264
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:187 → 208
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam13465
      Location:200 → 225
      zf-H2C2_2; Zinc-finger double domain

    5. NM_021088.4 → NP_066574.2  zinc finger protein 2 isoform a

      See identical proteins and their annotated locations for NP_066574.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AC092835, AI631860, AK295739, AV726545, BC005068
      Consensus CDS
      CCDS42712.1
      UniProtKB/Swiss-Prot
      A8MWV7, B0AZN8, B4DIR4, Q4ZFY6, Q96G44, Q9BSG1, Q9UMC5
      Related
      ENSP00000480297.1, ENST00000614034.5
      Conserved Domains (4) summary
      smart00349
      Location:14 → 74
      KRAB; krueppel associated box
      COG5048
      Location:186 → 412
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:231 → 251
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:174 → 195
      zf-C2H2; Zinc finger, C2H2 type

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      95165809..95184317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      95672291..95690797
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSG1.5 GenPept UniProtKB/Swiss-Prot:Q9BSG1

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