Format

Send to:

Choose Destination

DPPA4 developmental pluripotency associated 4 [ Homo sapiens (human) ]

Gene ID: 55211, updated on 8-Jul-2021

Summary

Official Symbol
DPPA4provided by HGNC
Official Full Name
developmental pluripotency associated 4provided by HGNC
Primary source
HGNC:HGNC:19200
See related
Ensembl:ENSG00000121570 MIM:614125
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
2410091M23Rik
Summary
This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Expression
Biased expression in testis (RPKM 2.8), bone marrow (RPKM 2.1) and 5 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See DPPA4 in Genome Data Viewer
Location:
3q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (109326141..109339635, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (109044988..109056419, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene bromodomain containing 7 pseudogene Neighboring gene developmental pluripotency associated 2 Neighboring gene chromosome 12 open reading frame 29 pseudogene Neighboring gene long intergenic non-protein coding RNA 1205 Neighboring gene H3 histone pseudogene 12

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

Associated conditions

Description Tests
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
GeneReviews: Not available
Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10713

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in lung-associated mesenchyme development IEA
Inferred from Electronic Annotation
more info
 
involved_in system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
developmental pluripotency-associated protein 4

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.

Genomic

  1. NG_053021.1 RefSeqGene

    Range
    5001..16432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348928.3NP_001335857.1  developmental pluripotency-associated protein 4 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC076971
    Conserved Domains (2) summary
    pfam14047
    Location:175242
    DCR; Dppa2/4 conserved region
    pfam14049
    Location:79170
    Dppa2_A; Dppa2/4 conserved region in higher vertebrates
  2. NM_001348929.2NP_001335858.1  developmental pluripotency-associated protein 4 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC076971
  3. NM_018189.4NP_060659.3  developmental pluripotency-associated protein 4 isoform 1

    See identical proteins and their annotated locations for NP_060659.3

    Status: REVIEWED

    Source sequence(s)
    AC076971
    Consensus CDS
    CCDS33814.1
    UniProtKB/Swiss-Prot
    Q7L190
    Related
    ENSP00000335306.6, ENST00000335658.6
    Conserved Domains (2) summary
    pfam14047
    Location:227294
    DCR; Dppa2/4 conserved region
    pfam14049
    Location:131222
    Dppa2_A; Dppa2/4 conserved region in higher vertebrates

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    109326141..109339635 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453622.1XP_024309390.1  developmental pluripotency-associated protein 4 isoform X1

    Conserved Domains (2) summary
    pfam14047
    Location:175242
    DCR; Dppa2/4 conserved region
    pfam14049
    Location:79170
    Dppa2_A; Dppa2/4 conserved region in higher vertebrates
  2. XM_011512954.3XP_011511256.1  developmental pluripotency-associated protein 4 isoform X1

    Conserved Domains (2) summary
    pfam14047
    Location:175242
    DCR; Dppa2/4 conserved region
    pfam14049
    Location:79170
    Dppa2_A; Dppa2/4 conserved region in higher vertebrates
Support Center