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    ZBTB40 zinc finger and BTB domain containing 40 [ Homo sapiens (human) ]

    Gene ID: 9923, updated on 2-Oct-2018

    Summary

    Official Symbol
    ZBTB40provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 40provided by HGNC
    Primary source
    HGNC:HGNC:29045
    See related
    Ensembl:ENSG00000184677 MIM:612106; Vega:OTTHUMG00000002897
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZNF923
    Expression
    Ubiquitous expression in lymph node (RPKM 6.6), spleen (RPKM 6.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See ZBTB40 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (22428838..22531157)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22778344..22857650)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 4418 Neighboring gene uncharacterized LOC105376856 Neighboring gene EPH receptor A8 Neighboring gene microRNA 6127

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study link novel loci to endometriosis.
    NHGRI GWA Catalog
    Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    NHGRI GWA Catalog
    Multiple genetic loci for bone mineral density and fractures.
    NHGRI GWA Catalog
    Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
    NHGRI GWA Catalog
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0478, MGC133098

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    bone mineralization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cellular response to DNA damage stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    zinc finger and BTB domain-containing protein 40

    NCBI Reference Sequences (RefSeq)

    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_001083621.1NP_001077090.1  zinc finger and BTB domain-containing protein 40 isoform a

      See identical proteins and their annotated locations for NP_001077090.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AK091019, AL035703, AL358788, BC114607, DA248977
      Consensus CDS
      CCDS224.1
      UniProtKB/Swiss-Prot
      Q9NUA8
      UniProtKB/TrEMBL
      B3KR52, Q1RMZ5
      Related
      ENSP00000384527.1, ENST00000404138.5
      Conserved Domains (6) summary
      smart00225
      Location:25113
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:794970
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:838858
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:952970
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:19113
      BTB; BTB/POZ domain
      pfam13465
      Location:907932
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001330398.1NP_001317327.1  zinc finger and BTB domain-containing protein 40 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AL035703, AL358788
      Consensus CDS
      CCDS81278.1
      UniProtKB/TrEMBL
      F8WAI8
      Related
      ENSP00000363782.4, ENST00000374651.8
      Conserved Domains (6) summary
      COG5048
      Location:682858
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:805919
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:726746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:840858
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:19113
      BTB; BTB/POZ domain
      cl28408
      Location:150231
      UBQ; Ubiquitin homologues
    3. NM_014870.3NP_055685.3  zinc finger and BTB domain-containing protein 40 isoform a

      See identical proteins and their annotated locations for NP_055685.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL035703, BC114607, DA248977, DA787818
      Consensus CDS
      CCDS224.1
      UniProtKB/Swiss-Prot
      Q9NUA8
      UniProtKB/TrEMBL
      Q1RMZ5
      Related
      ENSP00000364798.4, OTTHUMP00000002942, ENST00000375647.4, OTTHUMT00000008094
      Conserved Domains (6) summary
      smart00225
      Location:25113
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:794970
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:838858
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:952970
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:19113
      BTB; BTB/POZ domain
      pfam13465
      Location:907932
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      22428838..22531157
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542499.2XP_011540801.1  zinc finger and BTB domain-containing protein 40 isoform X1

      See identical proteins and their annotated locations for XP_011540801.1

      UniProtKB/Swiss-Prot
      Q9NUA8
      Conserved Domains (6) summary
      smart00225
      Location:25113
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:794970
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:838858
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:952970
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:19113
      BTB; BTB/POZ domain
      pfam13465
      Location:907932
      zf-H2C2_2; Zinc-finger double domain
    2. XM_024451297.1XP_024307065.1  zinc finger and BTB domain-containing protein 40 isoform X2

      Conserved Domains (6) summary
      COG5048
      Location:682858
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:805919
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:726746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:840858
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:19113
      BTB; BTB/POZ domain
      cl28408
      Location:150231
      UBQ; Ubiquitin homologues
    3. XM_011542500.2XP_011540802.1  zinc finger and BTB domain-containing protein 40 isoform X3

      Conserved Domains (4) summary
      COG5048
      Location:217393
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:261281
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:375392
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:330355
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. XR_946804.1 RNA Sequence

    2. XR_946805.1 RNA Sequence

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