NR2C2AP nuclear receptor 2C2 associated protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: NR2C2APprovided by HGNC
Official Full Name: nuclear receptor 2C2 associated proteinprovided by HGNC
Primary source: HGNC:HGNC:30763
See related: Ensembl:ENSG00000184162 MIM:608719; AllianceGenome:HGNC:30763
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: TRA16
Summary: Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in ovary (RPKM 9.3), skin (RPKM 8.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (19201409..19203414, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19337959..19339964, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19312218..19314223, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High TRA16 expression promotes small cell lung carcinoma by activating estrogen receptor beta and blocking testicular orphan nuclear receptor 2
Title: Testicular orphan nuclear receptor 4-associated protein 16 promotes non-small cell lung carcinoma by activating estrogen receptor β and blocking testicular orphan nuclear receptor 2.
Together, these findings provide the first in vivo evidence that an orphan nuclear receptor, such as TR4, may play major roles in the RA-mediated apoptosis or differentiation in P19 cells.
Title: Modulation of the retinoic acid-induced cell apoptosis and differentiation by the human TR4 orphan nuclear receptor.
TRA16 may function as a novel repressor to selectively suppress the TR4-mediated transactivation
Title: Identification of a novel testicular orphan receptor-4 (TR4)-associated protein as repressor for the selective suppression of TR4-mediated transactivation.
Taken together, these results suggested that TR4 should be one of important regulators of OXT gene expression.
Title: Transactivation of the proximal promoter of human oxytocin gene by TR4 orphan receptor.

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of nuclear receptor 2C2-associated protein (NR2C2AP) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: nuclear receptor 2C2-associated protein

Names: TR4 orphan receptor associated protein TRA16; TR4 orphan receptor-associated 16 kDa protein; repressor for TR4 transactivation

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_001300945.2 → NP_001287874.1 nuclear receptor 2C2-associated protein isoform 1

See identical proteins and their annotated locations for NP_001287874.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AA588235, AK301426, HY088736

Consensus CDS

CCDS74316.1

UniProtKB/Swiss-Prot

Q86WQ0

Related

ENSP00000402756.1, ENST00000420605.7
NM_176880.6 → NP_795361.1 nuclear receptor 2C2-associated protein isoform 2

See identical proteins and their annotated locations for NP_795361.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses alternate splice sites in the 3' terminal exon, resulting in a novel 3' coding region and 3' UTR. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AA588235, BC057837, HY088736

Consensus CDS

CCDS32967.1

UniProtKB/Swiss-Prot

A6NGP7, B4DW92, Q86WQ0

Related

ENSP00000332823.6, ENST00000331552.12

Conserved Domains (1) summary

cl23730
Location:38 → 138

F5_F8_type_C; F5/8 type C domain