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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BCL2L2-PABPN1 Gene

protein-coding GIFtS: 29
GCID: GC14P023777

BCL2L2-PABPN1 readthrough

Search for BCL2L2-PABPN1
in

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
BCL2L2-PABPN1 Readthrough¹ ²
BCL2L2-PABPN1 Protein²
BCLW³
Bcl2-L-2³
KIAA0271³
Apoptosis Regulator Bcl-W³

External Ids:	HGNC: 42959¹	Entrez Gene: 100529063²	Ensembl: ENSG00000258643⁷	UniProtKB: Q92843³

Export aliases for BCL2L2-PABPN1 gene to outside databases

Previous GC identifer: GC14U901221

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BCL2L2-PABPN1:

This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and

PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion

protein that shares sequence identity with each individual gene product. (provided by RefSeq, Dec 2010)

UniProtKB/Swiss-Prot: B2CL2_HUMAN, Q92843

Function: Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli

cells by suppressing death-promoting activity of BAX

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for BCL2L2-PABPN1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for BCL2L2-PABPN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCL2L2-PABPN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2

BCL2L2-PABPN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL2L2-PABPN1 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P023777: view genomic region (about GC identifiers)

Start:	23,776,044 bp from pter	End:	23,794,578 bp from pter
Size:	18,535 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: B2CL2_HUMAN, Q92843 (See protein sequence)

Recommended Name: Bcl-2-like protein 2

Size: 193 amino acids; 20746 Da

Subunit: Interacts with BOP (By similarity)

Subcellular location: Mitochondrion membrane; Peripheral membrane protein. Note=Loosely associated with the

mitochondrial membrane in healthy cells. During apoptosis, tightly bound to the membrane

Sequence caution: Sequence=BAA19666.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

4 PDB 3D structures from and Proteopedia for BCL2L2-PABPN1:

1MK3 (3D)

1O0L (3D)

1ZY3 (3D)

2Y6W (3D)

Secondary accessions: A8K0F4 Q2M3U0 Q5U0H4

Alternative splicing: 2 isoforms: Q92843-1 Q92843-2 (Based on a readthrough transcript which may produce a BCL2L2-PABPN1 fusion protein. No experimental confirmation available. Contains a phosphoserine at position 177)

Explore the universe of human proteins at neXtProt for BCL2L2-PABPN1: NX_Q92843

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q92843

BCL2L2-PABPN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001186793.1

ENSEMBL proteins:

ENSP00000451320 ENSP00000450916 ENSP00000452479

Human Recombinant Protein Products:

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	--	--
GO:0031966	mitochondrial membrane	--	--

BCL2L2-PABPN1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BCL2L2-PABPN1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR020731 Bcl2_BH4_motif_CS

IPR013280 Apop_reg_BclW

IPR003093 Bcl2_BH4

IPR002475 Bcl2-like

IPR026298 Blc2_fam

Graphical View of Domain Structure for InterPro Entry Q92843

ProtoNet protein and cluster: Q92843

2 Blocks protein families:

IPB000712 Apoptosis regulator Bcl-2 protein

IPB003093 Apoptosis regulator Bcl-2 protein

UniProtKB/Swiss-Prot: B2CL2_HUMAN, Q92843

Domain: The BH4 motif seems to be involved in the anti-apoptotic function

Domain: The BH1 and BH2 motifs form a hydrophobic groove which acts as a docking site for the BH3 domain of some

pro-apoptotic proteins. The C-terminal residues of BCL2L2 fold into the BH3-binding cleft and modulate pro-survival

activity by regulating ligand access. When BH3 domain-containing proteins bind, they displace the C-terminus, allowing

its insertion into the membrane and neutralizing the pro-survival activity of BCL2L2

Similarity: Belongs to the Bcl-2 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: B2CL2_HUMAN, Q92843

Function: Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli

cells by suppressing death-promoting activity of BAX

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In Situ Assay
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Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0003676	nucleic acid binding	--	--
GO:0005515	protein binding	--	--

BCL2L2-PABPN1 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for BCL2L2-PABPN1

5/15 Interacting proteins for BCL2L2-PABPN1 (Q92843^{1, 2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TP53BP2	Q13625²^,³	MINT-7235907 MINT-7235618 I2D: score=1
BCL2L11	O43521¹^,³	EBI-707714,EBI-1002160 I2D: score=5
BID	P55957¹^,³	EBI-707714,EBI-519672 I2D: score=5
BIK	Q13323¹^,³	EBI-707714,EBI-700794 I2D: score=5
BBC3	Q9BXH1¹^,³	EBI-707714,EBI-519884 I2D: score=4

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	--	--
GO:0007283	spermatogenesis	--	--
GO:0042981	regulation of apoptotic process	--	--
GO:0043066	negative regulation of apoptotic process	--	--

BCL2L2-PABPN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BCL2L2-PABPN1
Search CenterWatch for drugs/clinical trials and news about BCL2L2-PABPN1 / B2CL2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BCL2L2-PABPN1 gene:

NM_001199864.1

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000553781 ENST00000556100 ENST00000557008

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GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BCL2L2-PABPN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See BCL2L2-PABPN1 Protein Expression from SPIRE MOPED and PaxDB

UniProtKB/Swiss-Prot: B2CL2_HUMAN, Q92843

Tissue specificity: Expressed (at protein level) in a wide range of tissues with highest levels in brain, spinal cord,

testis, pancreas, heart, spleen and mammary glands. Moderate levels found in thymus, ovary and small intestine. Not

detected in salivary gland, muscle or liver. Also expressed in cell lines of myeloid, fibroblast and epithelial

origin. Not detected in most lymphoid cell lines

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCL2L2-PABPN1 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	--	--	68(a)	1 → many	GL343680.1(251270-259901)
zebrafish (Danio rerio)	Actinopterygii	pabpn1⁶	poly(A) binding protein, nuclear 1	56(a)	1 → many	24(14463461-14481677)
fruit fly (Drosophila melanogaster)	Insecta	Pabp2⁶	Pabp2	55(a)	1 → many	2R(4018938-4021879)
worm (Caenorhabditis elegans)	Secernentea	pabp-2⁶ EEED8.4⁶ (see all 4)	Putative RNA-binding protein EEED8.4 (see all 4)	48(a) 35(a) (see all 4)	1 ↔ many possible ortholog (see all 4)	I(9420899-9421987) II(5410450-5411228)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G10350¹	RNA recognition motif-containing protein	53.89(n) 52.69(a)		830899 NM_121073.3 NP_196597.1
rice (Oryza sativa)	Liliopsida	Os06g0219600¹	hypothetical protein	56.93(n) 57.66(a)		4340509 NM_001063698.1 NP_001057163.1

ENSEMBL Gene Tree for BCL2L2-PABPN1 (if available)
TreeFam Gene Tree for BCL2L2-PABPN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BCL2L2-PABPN1 gene

PABPN1L² PABPN1²

5 SIMAP similar genes for BCL2L2-PABPN1 using alignment to 1 protein entry: G3V2X3_HUMAN:

BCL2L2 BCL2L1 bcl-2 BCL2 BAX

BCL2L2-PABPN1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs193279247^1,2		--	23781513(+)	`AAAAAC/TACAAA`	1	--	int¹		0	--	--	--	--
rs185115902^1,2		--	23781581(+)	`ATGAGA/GATCAC`	1	--	int¹		0	--	--	--	--
rs56044156^1,2	C,	--	23781699(+)	`GGCAAG/AGCGGA`	1	--	int¹		2		NA	122
rs141270311^1,2		--	23781702(+)	`AAGGCA/GGAGTC`	1	--	int¹		0	--	--	--	--
rs56752505^1,2	C,	--	23781897(+)	`AGGTGG/AGAATT`	1	--	int¹		2		CSA WA	120
rs8009057^1,2	C,F,A,H,	--	23781957(+)	`GTTAAA/GTTGCA`	1	--	int¹		10		NS EA NA WA	1210
rs115548027^1,2	F,	--	23781988(+)	`GAATCC/TAGCAT`	1	--	int¹		1		WA	118
rs190407377^1,2		--	23782063(+)	`GTGAAC/TATGGC`	1	--	int¹		0	--	--	--	--
rs181277476^1,2		--	23782165(+)	`AATGAC/TTGATT`	1	--	int¹		0	--	--	--	--
rs143399489^1,2		--	23782459(+)	`TTCCTC/TTTAGG`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for BCL2L2-PABPN1 (23776044 - 23794578 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BCL2L2-PABPN1: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BCL2L2-PABPN1 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with BCL2L2-PABPN1)

Utopia: connect your pdf to the dynamic
world of online information

Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)¹ Prakash T....Taylor T.D. (2010)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)² Mayya V.... Han D.K. (2009)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
The structure of Bcl-w reveals a role for the C-terminal residues in modulating biological activity. (PubMed id 12660157)² Hinds M.G....Day C.L. (2003)
Solution structure of human BCL-w: modulation of ligand binding by the C-terminal helix. (PubMed id 12651847)² Denisov A.Y.... Gehring K. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 100529063	HGNC: 42959	Ensembl:ENSG00000258643	euGenes: HUgn100529063	ECgene: BCL2L2-PABPN1
H-InvDB: BCL2L2-PABPN1

(According to HUGE)
About This Section

HUGE: KIAA0271

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Intellectual Property for BCL2L2-PABPN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for BCL2L2-PABPN1 gene:
Search GeneIP for patents involving BCL2L2-PABPN1

GeneCards and IP:
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BCL2L2-PABPN1 Gene

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BCL2L2-PABPN1 Gene

BCL2L2-PABPN1 readthrough

Aliasesfor BCL2L2-PABPN1 gene

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Genomic Viewsfor BCL2L2-PABPN1 gene

Proteinsfor BCL2L2-PABPN1 gene

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Transcriptsfor BCL2L2-PABPN1 gene

Expression for BCL2L2-PABPN1 gene

Orthologsfor BCL2L2-PABPN1 gene

Paralogsfor BCL2L2-PABPN1 gene

Genomic Variantsfor BCL2L2-PABPN1 gene

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Publicationsfor BCL2L2-PABPN1 gene

External Searches for BCL2L2-PABPN1 gene

Genome Databases showing BCL2L2-PABPN1 gene

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Aliases
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Genomic Views
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for BCL2L2-PABPN1 gene

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for BCL2L2-PABPN1 gene

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for BCL2L2-PABPN1 gene

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for BCL2L2-PABPN1 gene

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for BCL2L2-PABPN1 gene

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Expression
for BCL2L2-PABPN1 gene

Orthologs
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Genomic Variants
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Intellectual Property
for BCL2L2-PABPN1 gene

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