PRUNE2 prune homolog 2 (Drosophila) [Homo sapiens] - Gene

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Summary

Official Symbol: PRUNE2provided by HGNC
Official Full Name: prune homolog 2 (Drosophila)provided by HGNC
Primary source: HGNC:25209
Locus tag: RP11-214N16.3
See related: Ensembl:ENSG00000106772; HPRD:12970; MIM:610691; Vega:OTTHUMG00000020047
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: BMCC1; BNIPXL; C9orf65; KIAA0367; A214N16.3; bA214N16.3; RP11-58J3.2; FLJ50060; FLJ54876; FLJ59118; KIAA0367; DKFZp762K117

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Genomic context

Location :: 9q21.2

Sequence :: Chromosome: 9; NC_000009.11 (79226292..79521003, complement)

See PRUNE2 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The nerve tissue-specific and post-development expression of PRUNE2/Prune2 suggests that PRUNE2 may contribute to the maintenance of mature nervous systems.
Title: Cancer-related PRUNE2 protein is associated with nucleotides and is highly expressed in mature nerve tissues.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The androgen regulation of PRUNE2 expression in prostate cancer cells was found to not be of any diagnostic value.
Title: Differential expression of PCA3 and its overlapping PRUNE2 transcript in prostate cancer.
the longer BMCC1-1 isoform is upregulated in PCa tissues and metastases
Title: New genomic structure for prostate cancer specific gene PCA3 within BMCC1: implications for prostate cancer detection and progression.
Our results suggest that the caspase-mediated cleavage of BNIP-2 and BNIP-XL could result in the release of the BCH domain or smaller fragments that are crucial for their proapoptotic activities.
Title: Cleavage of BNIP-2 and BNIP-XL by caspases.
findings show the BNIP2 & BCH domain of BNIPXL interacts with specific conformers of RhoA & mediates association with catalytic DH-PH domains of Lbc, a RhoA-specific guanine nucleotide exchange factor; BNIPXL inhibits Lbc-induced oncogenic transformation
Title: BNIP2 extra long inhibits RhoA and cellular transformation by Lbc RhoGEF via its BCH domain.
BMCC1 is a new member of prognostic factors for NBL and may play an important role in regulating differentiation, survival and aggressiveness of the tumor cells
Title: Increased expression of proapoptotic BMCC1, a novel gene with the BNIP2 and Cdc42GAP homology (BCH) domain, is associated with favorable prognosis in human neuroblastomas.
OBSCN and C9orf65 comprise a highly accurate two-gene classifier for differentiating gastrointestinal stromal tumors and leiomyosarcomas.
Title: Highly accurate two-gene classifier for differentiating gastrointestinal stromal tumors and leiomyosarcomas.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.

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Products	Interactant	Other Gene	Source	Pubs	Description
Q8WUY3	Q01844	EWSR1	HPRD	PubMed
Q8WUY3	Q96D15	RCN3	HPRD	PubMed
BioGRID:127687	BioGRID:108431	EWSR1	BioGRID	PubMed	Two-hybrid
BioGRID:127687	BioGRID:121488	RCN3	BioGRID	PubMed	Two-hybrid
BioGRID:127687	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
metal ion binding	IEA Inferred from Electronic Annotation more info
pyrophosphatase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
G1 phase	IEP Inferred from Expression Pattern more info	PubMed
apoptotic process	IEA Inferred from Electronic Annotation more info
induction of apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: protein prune homolog 2

Names: protein prune homolog 2; truncated PRUNE2; BNIP2 motif-containing molecule at the C-terminal region 1; BCH motif-containing molecule at the carboxyl terminal region 1; BNIP2 motif containing molecule at the carboxyl terminal region 1

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NCBI Reference Sequences (RefSeq)

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_015225.2 → NP_056040.2 protein prune homolog 2

Status: VALIDATED

Source sequence(s)

AB050197, AL359314, BC019095, BQ008420, DA410068

Consensus CDS

CCDS47982.1

UniProtKB/TrEMBL

B3KYC4

UniProtKB/Swiss-Prot

Q8WUY3

Related

ENSP00000365908, OTTHUMP00000021503, ENST00000376718, OTTHUMT00000052730

Conserved Domains (4) summary

cd00170
Location:2899 – 3045
Blast Score: 174

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

COG1227
Location:24 – 278
Blast Score: 130

PPX1; Inorganic pyrophosphatase/exopolyphosphatase [Energy production and conversion]

pfam02833
Location:221 – 319
Blast Score: 96

DHHA2; DHHA2 domain

pfam12496
Location:2797 – 2915
Blast Score: 477

BNIP2; Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 Primary Assembly

Range

79226292..79521003, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

49055881..49298694, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_138818.2: Suppressed sequence

Description

NM_138818.2: This RefSeq was permanently suppressed because the CDS was partial.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL161626.20	CAI39747.2
		CAI39750.2
		CAI39752.1
genomic	AL359314.14	CAI10912.2
		CAI10915.2
		CAQ68519.2
genomic	AL390239.16	CAI16084.1
		CAX14933.1
genomic	AL390239.16	CAI16084.1
		CAX14933.1
genomic	CH471089.1	EAW62581.1
		EAW62582.1
		EAW62583.1
		EAW62584.1
		EAW62585.1
		EAW62586.1
		EAW62587.1
		EAW62588.1
		EAW62594.1
genomic	CH471089.1	EAW62581.1
		EAW62582.1
		EAW62583.1
		EAW62584.1
		EAW62585.1
		EAW62586.1
		EAW62587.1
		EAW62588.1
		EAW62594.1
mRNA	AB002365.2	BAA20822.2
mRNA	AB050197.1	BAD93351.1
mRNA	AB535152.1	BAJ08045.1
mRNA	AK296269.1	BAG58979.1
mRNA	AK298805.1	BAG60940.1
mRNA	AK299857.1	BAG61715.1
mRNA	AL834213.1	None
mRNA	AY439213.1	AAR15150.1
mRNA	AY439214.1	AAR15151.1
mRNA	BC019095.2	None
mRNA	BC022571.1	AAH22571.1
mRNA	BC150641.1	AAI50642.1
mRNA	BQ008420.1	None
mRNA	DA410068.1	None
mRNA	FJ808772.1	ACY78253.1
mRNA	FJ808773.1	ACY78254.1
other-genetic	JF432723.1	ADZ15940.1