Aliases for DPPA4 Gene
External Ids for DPPA4 Gene
Previous GeneCards Identifiers for DPPA4 Gene
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]
GeneCards Summary for DPPA4 Gene
DPPA4 (Developmental Pluripotency Associated 4) is a Protein Coding gene. Diseases associated with DPPA4 include Germ Cell And Embryonal Cancer and Astigmatism. Among its related pathways are Transcriptional regulation of pluripotent stem cells and Developmental Biology. An important paralog of this gene is DPPA2.
UniProtKB/Swiss-Prot Summary for DPPA4 Gene
May be involved in the maintenance of active epigenetic status of target genes. May inhibit differentiation of embryonic cells into a primitive ectoderm lineage.