Gene Gene information from NCBI Gene database.
Entrez ID 340168
Gene name Developmental pluripotency associated 5
Gene symbol DPPA5
Synonyms (NCBI Gene)
ESG1
Chromosome 6
Chromosome location 6q13
Summary This gene encodes a protein that may function in the control of cell pluripotency and early embryogenesis. Expression of this gene is a specific marker for pluripotent stem cells. Pseudogenes of this gene are located on the short arm of chromosome 10 and
miRNA miRNA information provided by mirtarbase database.
17
miRTarBase ID miRNA Experiments Reference
MIRT944403 hsa-miR-3148 CLIP-seq
MIRT944404 hsa-miR-3153 CLIP-seq
MIRT944405 hsa-miR-4668-5p CLIP-seq
MIRT944406 hsa-miR-548c-3p CLIP-seq
MIRT1556237 hsa-miR-548a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IBA
GO:0003729 Function MRNA binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611111 19201 ENSG00000203909
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NC42
Protein name Developmental pluripotency-associated 5 protein (hDPPA5) (Embryonal stem cell-specific gene 1 protein) (ESG-1)
Protein function Involved in the maintenance of embryonic stem (ES) cell pluripotency. Dispensable for self-renewal of pluripotent ES cells and establishment of germ cells. Associates with specific target mRNAs (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16005 MOEP19 10 95 KH-like RNA-binding domain Domain
Sequence
Sequence length 116
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Aganglionic megacolon Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATIC FEVER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29927686 Associate
★☆☆☆☆
Found in Text Mining only