OOEP oocyte expressed protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: OOEPprovided by HGNC
Official Full Name: oocyte expressed proteinprovided by HGNC
Primary source: HGNC:HGNC:21382
See related: Ensembl:ENSG00000203907 MIM:611689; AllianceGenome:HGNC:21382
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KHDC2; FLOPED; HOEP19; C6orf156
Summary: Predicted to enable RNA binding activity. Predicted to be involved in several processes, including cytoskeleton organization; positive regulation of double-strand break repair via homologous recombination; and positive regulation of meiotic nuclear division. Predicted to act upstream of or within several processes, including embryo implantation; in utero embryonic development; and protein phosphorylation. Located in cytoplasm and nucleus. Part of subcortical maternal complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 5.4), placenta (RPKM 0.5) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 6q13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (73368555..73369897, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (74545253..74546595, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (74078278..74079620, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.
Title: Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.

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

ECD07769 (e-PCR)
- UniSTS:288819

ECD08034 (e-PCR)
- UniSTS:289082

REN32652 (e-PCR)
- UniSTS:357452

ECD08074 (e-PCR)
- UniSTS:289122

ECD24350 (e-PCR)
- UniSTS:305334

ECD23862 (e-PCR)
- UniSTS:304846

REN32554 (e-PCR)
- UniSTS:357354

REN32555 (e-PCR)
- UniSTS:357355

REN32556 (e-PCR)
- UniSTS:357356

REN32557 (e-PCR)
- UniSTS:357357

REN32558 (e-PCR)
- UniSTS:357358

REN32559 (e-PCR)
- UniSTS:357359

REN32560 (e-PCR)
- UniSTS:357360

REN32561 (e-PCR)
- UniSTS:357361

REN32562 (e-PCR)
- UniSTS:357362

REN32563 (e-PCR)
- UniSTS:357363

REN32564 (e-PCR)
- UniSTS:357364

REN32565 (e-PCR)
- UniSTS:357365

REN32566 (e-PCR)
- UniSTS:357366

REN32567 (e-PCR)
- UniSTS:357367

REN32568 (e-PCR)
- UniSTS:357368

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in biological_process	ND No biological Data available more info
involved_in embryonic pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of spindle localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment or maintenance of apical/basal cell polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of double-strand break repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of meiotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell division	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of establishment of protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in replication fork processing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of subcortical maternal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: oocyte-expressed protein homolog

Names: KH homology domain containing 2; KH homology domain-containing protein 2; oocyte and embryo protein 19; oocyte expressed protein homolog (dog); oocyte- and embryo-specific protein 19

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.

mRNA and Protein(s)

NM_001080507.3 → NP_001073976.1 oocyte-expressed protein homolog isoform 1

See identical proteins and their annotated locations for NP_001073976.1

Status: VALIDATED

Source sequence(s)

AC019205, KF459597

Consensus CDS

CCDS47451.1

UniProtKB/Swiss-Prot

A6NGQ2, A6NIN5, A9UIB7

Related

ENSP00000359384.5, ENST00000370359.6

Conserved Domains (1) summary

pfam16005
Location:36 → 116

MOEP19; KH-like RNA-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

73368555..73369897 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)
NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

73392932..73394611 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)