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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 (Developmental Pluripotency Associated 4) is a Protein Coding gene. Diseases associated with DPPA4 include Germ Cell And Embryonal Cancer. Among its related pathways are Transcriptional regulation of pluripotent stem cells and Developmental Biology. An important paralog of this gene is DPPA2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH03J109332 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 609.1 | +3.3 | 3255 | 8 | TEAD4 SP1 POLR2A YY1 JUND ETS1 RAD21 SIN3A HNF4A CHD1 | DPPA4 RF00017-4079 lnc-C3orf85-4 lnc-DPPA4-1-002 DPPA2 piR-46831 lnc-DPPA4-1-001 | |
GH03J109353 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 5.1 | -15.8 | -15817 | 5.3 | TEAD4 SP1 POLR2A YY1 NR2F2 SIN3A HNF4A RXRA MAX NANOG | MORC1-AS1 DPPA4 GUCA1C lnc-DPPA4-1-001 lnc-C3orf85-4 | |
GH03J109325 | Enhancer | 0.3 | ENCODE | 7.4 | +14.0 | 14026 | 0.9 | POLR2A SIN3A | DPPA4 DPPA2 piR-46831 lnc-DPPA4-1-001 | |
GH03J109372 | Enhancer | 0.4 | Ensembl | 4.7 | -33.1 | -33066 | 0.2 | HNF4A RXRA SP1 | DPPA4 ENSG00000241257 LOC100129989 lnc-C3orf85-4 | |
GH03J109358 | Enhancer | 0.3 | Ensembl | 5.7 | -19.0 | -18966 | 0.8 | RXRA | DPPA4 lnc-DPPA4-1-001 lnc-C3orf85-4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003682 | chromatin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 16169070 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007275 | multicellular organism development | IEA | -- |
GO:0035019 | somatic stem cell population maintenance | TAS | -- |
GO:0060484 | lung-associated mesenchyme development | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||
SP3: | |||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DPPA4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dppa4 30 17 31 |
|
OneToMany | |
Gm5501 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | LOC685378 30 |
|
||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs193920923 | Uncertain Significance: Malignant tumor of prostate | 109,327,996(-) | A/G | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs3762648 | - | p.Ile55Val | |||
rs3905734 | - | p.Ser226Phe |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2421541 | CNV | deletion | 20811451 |
esv2725758 | CNV | deletion | 23290073 |
esv2725759 | CNV | deletion | 23290073 |
esv2725760 | CNV | deletion | 23290073 |
nsv1002080 | CNV | loss | 25217958 |
nsv829665 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
germ cell and embryonal cancer |
|
|