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

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 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 located in chromatin. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AP-2delta Is the Most Relevant Target of AP-2 Family-Focused Cancer Therapy and Affects Genome Organization.
Title: AP-2δ Is the Most Relevant Target of AP-2 Family-Focused Cancer Therapy and Affects Genome Organization.
Upregulation of the transcription factor TFAP2D is associated with aggressive tumor phenotype in prostate cancer lacking the TMPRSS2:ERG fusion.
Title: Upregulation of the transcription factor TFAP2D is associated with aggressive tumor phenotype in prostate cancer lacking the TMPRSS2:ERG fusion.
A polymorphic Alu in the flanking region of the TFAP2B and TFAP2D genes has been identified. The new insert was found in higher frequency in Europeans (0.4) and Asians (0.38) and lower frequency in Africans (0.25).
Title: A human specific Alu DNA cassette is found flanking the genes of transcription factor AP2.
Ap-2delta was identified as a new activating transcription factor of HMOX1.
Title: Regulation of the HMOX1 gene by the transcription factor AP-2δ with unique DNA binding site.
Taken together, these results suggest that AP-2epsilon and Ets-1 are involved in the regulation of integrin alpha10 transcription in chondrocytes.
Title: Regulation of integrin alpha10 expression in chondrocytes by the transcription factors AP-2epsilon and Ets-1.
cloning and characterization of a novel human transcription factor AP-2 like gene (TFAP2BL1), which is located on human chromosome 6p12.1-21.1
Title: Cloning and characterization of a novel human transcription factor AP-2 beta like gene (TFAP2BL1).

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFMA216YE5 (e-PCR)
- UniSTS:30980

G17067 (e-PCR)
- UniSTS:62482

NoName (e-PCR)
- UniSTS:490030

AFMa053wf1 (e-PCR)
- UniSTS:33897

NoName (e-PCR)
- UniSTS:481145

NoName (e-PCR)
- UniSTS:482175

D6S948 (e-PCR), detects polymorphism
- UniSTS:149129

NoName (e-PCR)
- UniSTS:495259

TFAP2BL1_2688 (e-PCR)
- UniSTS:462585

RH120665 (e-PCR)
- UniSTS:132606

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II transcription 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

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

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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.