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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BCL2L12 Gene

protein-coding GIFtS: 52
GCID: GC19P050168

BCL2-like 12 (proline rich)

Explore 12 diseases affiliated with
BCL2L12 via

MalaCards

our new
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
BCL2-Like 12 (Proline Rich)¹ ²		Bcl2-L-12³
Bcl-2-Related Proline-Rich Protein² ³		BPR³
Bcl-2 Related Proline-Rich Protein²		Bcl2-L-12³
Bcl-2-Like Protein 12²

External Ids:	HGNC: 13787¹	Entrez Gene: 83596²	Ensembl: ENSG00000126453⁷	OMIM: 610837⁵	UniProtKB: Q9HB09³

Export aliases for BCL2L12 gene to outside databases

Previous GC identifers: GC19P050826 GC19P050536 GC19P054844 GC19P054860 GC19P046545

(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 BCL2L12:

The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers

and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein

contains a Bcl-2 homology domain 2 (BH2). The function of this gene has not yet been determined. Two alternatively

spliced transcript variants of this gene encoding distinct isoforms have been reported. (provided by RefSeq, Jul 2008)

Gene Wiki entry for BCL2L12

(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

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BCL2L12 gene promoter:
STAT1 COUP-TF p53 p300 NF-kappaB1 NF-kappaB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): BCL2L12 promoter sequence

Search SABiosciences Chromatin IP Primers for BCL2L12

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCL2L12

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

Entrez Gene cytogenetic band: 19q13.3 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.3

BCL2L12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL2L12 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P050168: view genomic region (about GC identifiers)

Start:	50,168,399 bp from pter	End:	50,177,173 bp from pter
Size:	8,775 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: B2L12_HUMAN, Q9HB09 (See protein sequence)

Recommended Name: Bcl-2-like protein 12

Size: 334 amino acids; 36821 Da

Secondary accessions: Q3SY11 Q3SY13 Q96I96 Q9HB08

Alternative splicing: 3 isoforms: Q9HB09-1 Q9HB09-2 Q9HB09-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BCL2L12: NX_Q9HB09

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9HB09

BCL2L12 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001035758.1 NP_619580.1

ENSEMBL proteins:

ENSP00000246785 ENSP00000393803 ENSP00000246784

Human Recombinant Protein Products:

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

ProtoNet protein and cluster: Q9HB09

1 Blocks protein family: IPB000712 Apoptosis regulator Bcl-2 protein

UniProtKB/Swiss-Prot: B2L12_HUMAN, Q9HB09

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

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BCL2L12
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL2L12

1 GenomeRNAi human phenotype for BCL2L12:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-out Bcl2l12/Irf3^{Bcl2l12/tm1Ttg} for BCL2L12
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Bcl2l12):

cellular

homeostasis/metabolism

immune system

BCL2L12 for phenotypes 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 BCL2L12

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5 Interacting proteins for BCL2L12 (Q9HB09³ ENSP00000246785⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BCL2L1	Q07817³, ENSP00000302564⁴	I2D: score=2 STRING: ENSP00000302564
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
HSPA4	P34932³, ENSP00000302961⁴	I2D: score=1 STRING: ENSP00000302961
BCL2	ENSP00000329623⁴	STRING: ENSP00000329623
SGTA	ENSP00000221566⁴	STRING: ENSP00000221566

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	IEA	--

BCL2L12 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 BCL2L12
Search CenterWatch for drugs/clinical trials and news about BCL2L12 / B2L12

(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 BCL2L12 gene (3 alternative transcripts):

NM_001040668.1 NM_138639.1 NM_052842.2

Unigene Cluster for BCL2L12:

BCL2-like 12 (proline rich)

Hs.289052 [show with all ESTs]

Unigene Representative Sequence: NM_138639

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

ENST00000246785(uc002ppa.3) ENST00000441864(uc002ppb.3) ENST00000246784

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		hsa-miR-182 hsa-miR-125a-5p hsa-miR-125b hsa-miR-1271 hsa-miR-96 hsa-miR-4319
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Additional cDNA sequence:

BC007724.2 BC104004.1 BC104005.1 BC104006.1 FJ868798.1 FJ868799.1 FJ868800.1 FJ868801.1

FJ868802.1 FJ868803.1 FJ911906.1 FJ911907.1 FJ911908.1 HM347053.1

14 DOTS entries:

DT.451839 DT.100845708 DT.97845292 DT.86859692 DT.75136345 DT.102841618 DT.100776091 DT.100845696

DT.95171837 DT.100835379 DT.453528 DT.91753634 DT.91753635 DT.91753644

24/194 AceView cDNA sequences (see all 194):

BU855943 AA767306 AI143613 AI342369 BM712954 BG751297 AW328658 AW572777

BM974452 AI498796 BI114996 AA856716 AI346525 BM767127 NM_138639 BF984537

BU856117 BU856201 BQ642925 AI830915 AA830756 CF131009 BM767547 AI269475

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BCL2L12 (see all 6) About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7a	·	7b	·	7c
SP1:
SP2:
SP3:															-
SP4:							-		-
SP5:													-		-

ECgene alternative splicing isoforms for BCL2L12

(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

BCL2L12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCCTGCCCT

About this image

BCL2L12 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Secondary Spermatocyte

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BCL2L12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BCL2L12

SOURCE GeneReport for Unigene cluster: Hs.289052

UniProtKB/Swiss-Prot: B2L12_HUMAN, Q9HB09

Tissue specificity: Expressed mainly in breast, thymus, prostate, fetal liver, colon, placenta, pancreas, small

intestine, spinal cord, kidney, and bone marrow and to a lesser extent in many other tissues. Isoform 2 is primarily

expressed in skeletal muscle

SABiosciences Custom PCR Arrays for BCL2L12

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In Situ
Assay Products:

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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 chordates.

Orthologs for BCL2L12 gene from 2/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Bcl2l12^{1 , 5}	BCL2-like 12 (proline rich)^{1, 5}	80.53(n)¹ 84.8(a)¹		7 (29.07 cM)⁵ 75736¹ NM_029410.3¹ NP_083686.1¹ 44991222⁵
zebrafish (Danio rerio)	Actinopterygii	si:ch73-248e21.1⁶	si:ch73-248e21.1	26(a)	1 ↔ 1	3(32708905-32720350)

ENSEMBL Gene Tree for BCL2L12 (if available)
TreeFam Gene Tree for BCL2L12 (if available)

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

Paralogs for BCL2L12 gene

BCL2L12 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for BCL2L12
PGOHUM00000238190

(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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190427317^1,2		--	50171225(+)	`AGACAC/TGGGGT`	2	--	int¹		0	--	--	--	--
rs181247904^1,2		--	50171511(+)	`CCATGC/GCCGGC`	2	--	int¹		0	--	--	--	--
rs186704366^1,2		--	50171647(+)	`CACTGC/TGCCTG`	2	--	int¹		0	--	--	--	--
rs12986301^1,2	C,H	--	50171681(+)	`CCAGTC/ATGAGG`	2	--	int¹		6		NS EA NA	522
rs141361253^1,2		--	50171790(+)	`GCTTGA/GTTGCT`	2	--	int¹		0	--	--	--	--
rs75368365^1,2	C,	--	50171947(+)	`GAGGCC/TGAGGC`	2	--	int¹		1		WA	2
rs189623186^1,2		--	50172043(+)	`GTTGGA/GGGAAG`	2	--	int¹		0	--	--	--	--
rs201856594^1,2		--	50172058(+)	`GAATCC/TGTAAG`	2	--	int¹		0	--	--	--	--
rs180737984^1,2	C,	--	50172059(+)	`AATCCA/GTAAGT`	2	--	int¹		0	--	--	--	--
rs151271269^1,2	C,F	--	50172127(+)	`GACTTC/GTATGC`	4	F L	mis¹		1		NA	4540

HapMap Linkage Disequilibrium report for BCL2L12 (50168399 - 50177173 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for BCL2L12
6 CNVs: 30912 2246 5112 9803 5113 32261

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BCL2L12

DNA2.0 Custom Variant and Variant Library Synthesis for BCL2L12

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

BCL2L12 for disorders           About GeneDecksing

OMIM gene information: 610837    OMIM disorders: --

12 diseases for BCL2L12:    About MalaCards

non-hodgkin lymphoma hodgkin's lymphoma chronic lymphocytic leukemia lymphocytic leukemia

breast cancer colon cancer gastric cancer nasopharyngitis

leukemia glioblastoma prostatitis carcinoma

2 Novoseek disease relationships for BCL2L12 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	24.9	6	12783122 (2), 16895478 (2), 15493871 (1)
cancer	0	1	15493871 (1)

Human Genome Epidemiology (HuGE) Navigator: BCL2L12 (5 documents)

Export disorders for BCL2L12 gene to outside databases

(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 BCL2L12 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with BCL2L12)

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

Molecular cloning, physical mapping, and expression analysis of a novel gene, BCL2L12, encoding a proline-rich protein with a highly conserved BH2 domain of the Bcl-2 family. (PubMed id 11401436)^{1, 2, 9} Scorilas A....Diamandis E.P. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
An unappreciated role for RNA surveillance. (PubMed id 14759258)^{1, 2} Hillman R.T.... Brenner S.E. (2004)
Expression of BCL2L12, a new member of apoptosis-related genes, in breast tumors. (PubMed id 12783122)^{1, 9} Talieri M....Scorilas A. (2003)
Expression analysis of BCL2L12, a new member of apoptosis-related genes, in colon cancer. (PubMed id 15493871)^{1, 9} Mathioudaki K....Talieri M. (2004)
Molecular analysis and prognostic impact of the novel apoptotic gene BCL2L12 in gastric cancer. (PubMed id 19903463)^{1, 9} Florou D....Scorilas A. (2010)
Quantitative expression analysis and prognostic significance of the novel apoptosis-related gene BCL2L12 in colon cancer. (PubMed id 18844453)^{1, 9} Kontos C.K....Scorilas A. (2008)
Molecular cloning of novel alternatively spliced varia nts of BCL2L12, a new member of the BCL2 gene family, and their expression analy sis in cancer cells. (PubMed id 22664385)¹ Kontos C.K. and Scorilas A. (2012)
The role of Bcl-2 family proteins in therapy responses of malignant astrocytic gliomas: Bcl2L12 and beyond. (PubMed id 22431925)¹ Kouri F.M....Stegh A.H. (2012)
GSK3b regulates Bcl2L12 and Bcl2L12A anti-apoptosis si gnaling in glioblastoma and is inhibited by LiCl. (PubMed id 22262180)¹ Chou C.H....Hong Y.R. (2012)

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

		AND	OR
Aliases
Disorders
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: 83596	HGNC: 13787	AceView: BCL2L12	Ensembl:ENSG00000126453	euGenes: HUgn83596
ECgene: BCL2L12	H-InvDB: BCL2L12

(According to HUGE)
About This Section

(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

Name	Description
PharmGKB entry for BCL2L12	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BCL2L12	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for BCL2L12 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for BCL2L12 gene:
Search GeneIP for patents involving BCL2L12

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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BCL2L12 Gene

BCL2-like 12 (proline rich)

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BCL2L12 Gene

BCL2-like 12 (proline rich)

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