DPPA5 developmental pluripotency associated 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DPPA5provided by HGNC
Official Full Name: developmental pluripotency associated 5provided by HGNC
Primary source: HGNC:HGNC:19201
See related: Ensembl:ENSG00000203909 MIM:611111; AllianceGenome:HGNC:19201
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: ESG1
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 the long arm of chromosomes 14 and 19. [provided by RefSeq, Dec 2010]
Expression: Biased expression in testis (RPKM 1.1), lung (RPKM 0.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 6q13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (73353063..73354276, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (74529750..74530963, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (74062786..74063999, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our study provides new insight into the function of DPPA5 and NANOG regulation in human pluripotent stem cell .
Title: DPPA5 Supports Pluripotency and Reprogramming by Regulating NANOG Turnover.
Dppa5 is specifically and differentially expressed in human cells that have pluripotency and can be used as a marker of pluripotent stem cells.
Title: Identification of developmental pluripotency associated 5 expression in human pluripotent stem cells.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD05541 (e-PCR)
- UniSTS:286605

ECD05817 (e-PCR)
- UniSTS:286879

REN32487 (e-PCR)
- UniSTS:357287

REN32488 (e-PCR)
- UniSTS:357288

REN32489 (e-PCR)
- UniSTS:357289

REN32490 (e-PCR)
- UniSTS:357290

REN32491 (e-PCR)
- UniSTS:357291

REN32492 (e-PCR)
- UniSTS:357292

REN32493 (e-PCR)
- UniSTS:357293

REN32494 (e-PCR)
- UniSTS:357294

REN32495 (e-PCR)
- UniSTS:357295

REN32496 (e-PCR)
- UniSTS:357296

REN32497 (e-PCR)
- UniSTS:357297

REN32498 (e-PCR)
- UniSTS:357298

REN32499 (e-PCR)
- UniSTS:357299

REN32500 (e-PCR)
- UniSTS:357300

RH102396 (e-PCR)
- UniSTS:96730

ECD06922 (e-PCR)
- UniSTS:287980

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: developmental pluripotency-associated 5 protein

Names: embryonal stem cell specific gene 1

NCBI Reference Sequences (RefSeq)

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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.