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    TFAP2D transcription factor AP-2 delta [ Homo sapiens (human) ]

    Gene ID: 83741, updated on 18-Sep-2024

    Summary

    Official Symbol
    TFAP2Dprovided by HGNC
    Official Full Name
    transcription factor AP-2 deltaprovided by HGNC
    Primary source
    HGNC:HGNC:15581
    See related
    Ensembl:ENSG00000008197 MIM:610161; AllianceGenome:HGNC:15581
    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
    TFAP2BL1; AP-2delta
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in anatomical structure development; regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within inferior colliculus development; negative regulation of neuron apoptotic process; and positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See TFAP2D in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (50713526..50773033)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (50556563..50616124)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (50681239..50740746)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100505985 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:50224922-50225528 Neighboring gene uncharacterized LOC124901479 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:50533627-50533787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:50674460-50674961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:50675081-50675582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:50675583-50676082 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:50682973-50683503 Neighboring gene VISTA enhancer hs865 Neighboring gene Sharpr-MPRA regulatory region 1859 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:50691426-50692118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:50692119-50692809 Neighboring gene MPRA-validated peak5845 silencer Neighboring gene uncharacterized LOC105375084 Neighboring gene uncharacterized LOC124901490 Neighboring gene transcription factor AP-2 beta

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in inferior colliculus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transcription factor AP-2-delta
    Names
    AP-2 like
    AP2-delta
    activating enhancer binding protein 2 beta-like 1
    activating enhancer-binding protein 2-delta
    transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1
    transcription factor AP-2 delta (activating enhancer binding protein 2 delta)
    transcription factor AP-2-beta-like 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_172238.4NP_758438.2  transcription factor AP-2-delta

      See identical proteins and their annotated locations for NP_758438.2

      Status: VALIDATED

      Source sequence(s)
      AL031224
      Consensus CDS
      CCDS4933.1
      UniProtKB/Swiss-Prot
      Q7Z6R9, Q8IWX0
      Related
      ENSP00000008391.4, ENST00000008391.4
      Conserved Domains (1) summary
      pfam03299
      Location:211405
      TF_AP-2; Transcription factor AP-2

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      50713526..50773033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      50556563..50616124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)