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

Gene ID: 83741, updated on 5-Aug-2022

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
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Genomic context

See TFAP2D in Genome Data Viewer
Location:
6p12.3
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (50713526..50773033)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (50556563..50616124)
105.20220307 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 uncharacterized LOC124901479 Neighboring gene VISTA enhancer hs865 Neighboring gene Sharpr-MPRA regulatory region 1859 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
  • 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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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)

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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_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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)