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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ALS2CR11 Gene

protein-coding GIFtS: 41
GCID: GC02M202352

amyotrophic lateral sclerosis 2 (juvenile) chromosome region,...

Explore 2 diseases affiliated with
ALS2CR11 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
Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 11¹ ²
FLJ25351¹
Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 11 Protein²

External Ids:	HGNC: 14438¹	Entrez Gene: 151254²	Ensembl: ENSG00000155754⁷	UniProtKB: Q53TS8³

Export aliases for ALS2CR11 gene to outside databases

Previous GC identifers: GC00U990889 GC02U900708 GC02M202178 GC02M202060 GC02M194200

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

(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_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ALS2CR11 gene promoter:
c-Fos E2F-3a E2F-4 E2F-5 AML1a AP-1 E2F-2 E2F-1 E2F c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ALS2CR11 promoter sequence

Search SABiosciences Chromatin IP Primers for ALS2CR11

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALS2CR11

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

Entrez Gene cytogenetic band: 2q33.1 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33

ALS2CR11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALS2CR11 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M202352: view genomic region (about GC identifiers)

Start:	202,352,144 bp from pter	End:	202,483,905 bp from pter
Size:	131,762 bases	Orientation:	minus 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: AL2SA_HUMAN, Q53TS8 (See protein sequence)

Recommended Name: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein

Size: 623 amino acids; 71159 Da

Secondary accessions: C9IZH7 E9PGG4 Q8NCN6 Q96LN4

Alternative splicing: 4 isoforms: Q53TS8-1 Q53TS8-2 Q53TS8-3 Q53TS8-4 (No experimental confirmation available. Ref.2 (BX648732) sequence is in conflict in positions: 698:M->T, 1039:C->G, 1559:M->I)

Explore the universe of human proteins at neXtProt for ALS2CR11: NX_Q53TS8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q53TS8

ALS2CR11 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001161688.1 NP_001161689.1 NP_001161693.1 NP_689738.3

ENSEMBL proteins:

ENSP00000286195 ENSP00000400672 ENSP00000409937 ENSP00000399016

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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: Q53TS8

(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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1 GenomeRNAi human phenotype for ALS2CR11:

Decreased TP53 protein express

(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 ALS2CR11

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/6 Interacting proteins for ALS2CR11 (Q53TS8³ ENSP00000286195⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CCDC85B	Q15834³, ENSP00000311695⁴	I2D: score=3 STRING: ENSP00000311695
TEX11	Q8IYF3³, ENSP00000340995⁴	I2D: score=3 STRING: ENSP00000340995
VIM	P08670³, ENSP00000224237⁴	I2D: score=3 STRING: ENSP00000224237
SSSCA1	O60232³, ENSP00000312318⁴	I2D: score=3 STRING: ENSP00000312318
MCM6	Q14566³, ENSP00000264156⁴	I2D: score=3 STRING: ENSP00000264156

About this table

(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 ALS2CR11
Search CenterWatch for drugs/clinical trials and news about ALS2CR11 / AL2SA

(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,
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About This Section

REFSEQ mRNAs for ALS2CR11 gene (4 alternative transcripts):

NM_001168216.1 NM_001168217.1 NM_001168221.1 NM_152525.5

Unigene Cluster for ALS2CR11:

Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11

Hs.335788 [show with all ESTs]

Unigene Representative Sequence: NM_001168221

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

ENST00000286195(uc002uye.3 uc010fti.3) ENST00000439802 ENST00000439140(uc002uyf.3)

ENST00000482942 ENST00000450242(uc021vvc.1)

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Additional cDNA sequence:

AB053313.1 AK058080.1 AK097651.1 AL833429.1 BC030659.2 BX648732.1

6 DOTS entries:

DT.91701247 DT.40297734 DT.92064946 DT.100699546 DT.75188036 DT.99947065

24/36 AceView cDNA sequences (see all 36):

AA759348 AA770079 BC030659 AW665940 AA363900 NM_152525 AB053313 BP369257

BX648732 BF979697 AL703973 AL833429 BP369914 BI827874 BG773299 AA889115

BG723906 AL703972 AK058080 BE502681 BI561171 CD244566 AI023682 BG701187

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

ALS2CR11 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGACAGAA

About this image
See ALS2CR11 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALS2CR11

SOURCE GeneReport for Unigene cluster: Hs.335788

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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 human and mouse.

Orthologs for ALS2CR11 gene from 1/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Als2cr11^{1 , 5}	amyotrophic lateral sclerosis 2 (juvenile) chromosome more^{1, 5}	65.66(n)¹ 48.59(a)¹		1 (29.20 cM)⁵ 73463¹ NM_175200.4¹ NP_780409.2¹ 59050506⁵

ENSEMBL Gene Tree for ALS2CR11 (if available)
TreeFam Gene Tree for ALS2CR11 (if available)

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

(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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs184450735^1,2		--	202351758(+)	`ATCACA/GCCCAG`	3	--	int¹		0	--	--	--	--
rs189442228^1,2		--	202351838(+)	`TCCATC/TCACCT`	3	--	int¹		0	--	--	--	--
rs77580183^1,2	C,	--	202351922(+)	`GGCTGA/CACACA`	3	--	int¹		0	--	--	--	--
rs80014419^1,2	F,	--	202352123(+)	`ATGAAC/TAAAAA`	3	--	int¹		1		WA	118
rs185719054^1,2		--	202352279(+)	`GGCCTC/GACATA`	3	--	ut3¹		0	--	--	--	--
rs34138250^1,2	C,F,	--	202352363(+)	`TTGGCC/TGCATT`	5	Q R	mis¹ ut3¹		3		NA EU	5911
rs138138805^1,2	C,	--	202352364(+)	`TGGCCG/ACATTT`	5	/R /W	mis¹ ut3¹		1		NA	4546
rs138926058^1,2	C,F,	--	202352388(+)	`ATCTGA/GTGTTT`	5	P S	mis¹ ut3¹		2		NA EU	5871
rs117420067^1,2	C,F,	--	202352433(+)	`TCGACG/AACTTG`	5	/R /C	mis¹ ut3¹		2		EA NA	4670
rs74717115^1,2	C,	--	202352462(+)	`TTTCTC/TGTTGC`	5	Q R	mis¹ ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ALS2CR11 (202352144 - 202483905 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ALS2CR11
2 CNVs: 90222 63276

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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

ALS2CR11 for disorders About GeneDecksing

2 diseases for ALS2CR11: About MalaCards

amyotrophic lateral sclerosis lateral sclerosis

Export disorders for ALS2CR11 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 ALS2CR11 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ALS2CR11)

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

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)^{1, 3} Hadano S....Ikeda J.-E. (2001)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)¹ Rual J.F....Vidal M. (2005)
Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis. (PubMed id 11827452)¹ Jia L....Francomano C.A. (2002)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(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: 151254	HGNC: 14438	AceView: FLJ25351	Ensembl:ENSG00000155754	euGenes: HUgn151254
ECgene: ALS2CR11	H-InvDB: ALS2CR11

(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 ALS2CR11	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ALS2CR11 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ALS2CR11 gene:
Search GeneIP for patents involving ALS2CR11

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),
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About This Section


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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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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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ALS2CR11 Gene

amyotrophic lateral sclerosis 2 (juvenile) chromosome region,...

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ALS2CR11 Gene

amyotrophic lateral sclerosis 2 (juvenile) chromosome region,...

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