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  2. DPPA4 - developmental pluripotency associated 4 Gene

DPPA4 - developmental pluripotency associated 4 Gene

Homo sapiens

Also known as 2410091M23Rik

Gene ID: 55211 | Gene type: protein coding

About DPPA4

Cytogenetic location: 3q13.13 Genomic coordinates (GRCh38): 3:109,326,144-109,339,636 (from NCBI)

This gene has 8 transcripts (splice variants), 75 orthologues and 1 paralogue. Biased expression in testis (RPKM 2.8), bone marrow (RPKM 2.1) and 5 other tissues.

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]

DPPA4 Products(3)

mRNA Protein Name
NM_001348928.3 NP_001335857.1 developmental pluripotency-associated protein 4 isoform 2
NM_001348929.2 NP_001335858.1 developmental pluripotency-associated protein 4 isoform 3
NM_018189.4 NP_060659.3 developmental pluripotency-associated protein 4 isoform 1

DPPA4 Protein Structure

Dppa2_A

Dppa2_A: Dppa2/4 conserved region in higher vertebrates (187 - 221)

DCR

DCR: Dppa2/4 conserved region (227 - 295)

  • 0
  • 100
  • 200
  • 304 a.a.
Protein Preferred Names Protein Names

developmental pluripotency-associated protein 4

Related Diseases

Diseases Alias
Astigmatism
Germ Cell And Embryonal Cancer

Germ Cell And Embryonal Neoplasm

Germ Cell Cancer

Malignant Germ Cell Tumor

Neoplasms, Germ Cell And Embryonal

Germ Cell Neoplasm

Germ Cell Tumour

Malignant Tumor Of The Germ Cell

Neoplasms Germ Cell

Malignant Germ Cell Neoplasm

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus DPPA4 VGNC VGNC:61609
Rattus norvegicus DPPA4 RGD RGD:1595070
Macaca mulatta DPPA4 VGNC VGNC:84188
Mus musculus DPPA4 MGD MGI:2157525