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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALS2CR8 Gene

protein-coding   GIFtS: 48
GCID: GC02P203776

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

 Explore 4 diseases affiliated with
ALS2CR8 via our new
 Human Malady Compendium 
Biological research products
for ALS2CR8
    

(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
81 2
     Calcium-Response Factor2 3
CARF2 3 5     Testis Development Protein NYD-SP242 3
NYD-SP241 2     FLJ215791
CaRF1 3     Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 8 Protein2

External Ids:    HGNC: 144351   Entrez Gene: 798002   Ensembl: ENSG000001383807   OMIM: 6075865   UniProtKB: Q8N1873   

Export aliases for ALS2CR8 gene to outside databases

Previous GC identifers: GC02P201994 GC02P202501 GC02P203740 GC02P203980 GC02P203602 GC02P203485 GC02P195623


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

UniProtKB/Swiss-Prot: AL2S8_HUMAN, Q8N187
Function: May be a transcription factor (By similarity)

Gene Wiki entry for ALS2CR8


(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 ALS2CR8 gene promoter:
         POU2F1   POU2F1a   Egr-1   NF-kappaB1   Cdc5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALS2CR8 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALS2CR8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALS2CR8


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

Entrez Gene cytogenetic band: 2q33.2   Ensembl cytogenetic band:  2q33.2   HGNC cytogenetic band: 2q33.3

ALS2CR8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALS2CR8 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P203776:  view genomic region     (about GC identifiers)

Start:
203,776,937 bp from pter      End:
203,851,060 bp from pter
Size:
74,124 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: AL2S8_HUMAN, Q8N187 (See protein sequence)
Recommended Name: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein  
Size: 725 amino acids; 80698 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=BAB15088.1; Type=Erroneous initiation; Sequence=BAB69018.1; Type=Frameshift; Positions=715;
Secondary accessions: Q8ND29 Q8WXC0 Q96J78 Q96Q38 Q96Q39 Q9H712
Alternative splicing: 2 isoforms:  Q8N187-1   Q8N187-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALS2CR8: NX_Q8N187

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N187

  • ALS2CR8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001098056.1  NP_079020.13  

    ENSEMBL proteins: 
     ENSP00000384006   ENSP00000413296   ENSP00000395276   ENSP00000416812   ENSP00000391617  
     ENSP00000392274   ENSP00000394298   ENSP00000408998   ENSP00000401918   ENSP00000413166  
     ENSP00000387785   ENSP00000416160   ENSP00000396221   ENSP00000394990   ENSP00000414789  
     ENSP00000415948   ENSP00000409985   ENSP00000414644   ENSP00000439769   ENSP00000411134  
     ENSP00000440467   ENSP00000316224  

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    Novus Biologicals ALS2CR8 Lysate
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    Uscn Proteins for ALS2CR8

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm IEA--
    GO:0005730nucleolus IEA--


    ALS2CR8 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

    ProtoNet protein and cluster: Q8N187


    (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: AL2S8_HUMAN, Q8N187
    Function: May be a transcription factor (By similarity)

    miRNA
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    8/33 QIAGEN miScript miRNA Assays for microRNAs that regulate ALS2CR8 (see all 33):
    hsa-miR-411* hsa-miR-3607-3p hsa-miR-193a-3p hsa-miR-379* hsa-miR-429 hsa-miR-4328 hsa-miR-30d hsa-miR-3162-5p
    SwitchGear 3'UTR luciferase reporter plasmidALS2CR8 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--


    ALS2CR8 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ALS2CR8:
     Decreased G3BP1 protein expres 

    Animal Models:
         Mouse knock-out Carftm1.1Aew for ALS2CR8
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Carf):
     behavior/neurological 

    ALS2CR8 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 CentralTM Interacting Genes and Proteins Networks for ALS2CR8

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for ALS2CR8 (Q8N1872, 3 ENSP000003162244) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LMO3Q8TAP43, ENSP000003466894I2D: score=4 STRING: ENSP00000346689
    NFE2Q166213, ENSP000003124364I2D: score=1 STRING: ENSP00000312436
    CDKN2AENSP000003551534STRING: ENSP00000355153
    HNRNPA1ENSP000003418264STRING: ENSP00000341826
    --Q9NYC63, 2MINT-66679 I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----


    ALS2CR8 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

    ALS2CR8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALS2CR8
    1 Novoseek chemical compound relationship for ALS2CR8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 37 7 11832226 (2), 10409470 (1), 12924208 (1), 2222965 (1)

    Search CenterWatch for drugs/clinical trials and news about ALS2CR8 / AL2S8 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 ALS2CR8 gene (2 alternative transcripts): 
    NM_001104586.1  NM_024744.14  

    Unigene Cluster for ALS2CR8:

    Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8
    Hs.444982  [show with all ESTs]
    Unigene Representative Sequence: NM_024744
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000402905(uc010zhy.1 uc010zhz.1 uc010ftu.1) ENST00000414490
    ENST00000431787 ENST00000444724(uc002uzn.3 uc002uzm.3) ENST00000414857
    ENST00000422368 ENST00000430899 ENST00000445120 ENST00000441569 ENST00000432024
    ENST00000443740 ENST00000471271 ENST00000414439 ENST00000428585 ENST00000447539
    ENST00000457031 ENST00000434998 ENST00000427712

    miRNA
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    8/33 QIAGEN miScript miRNA Assays for microRNAs that regulate ALS2CR8 (see all 33):
    hsa-miR-411* hsa-miR-3607-3p hsa-miR-193a-3p hsa-miR-379* hsa-miR-429 hsa-miR-4328 hsa-miR-30d hsa-miR-3162-5p
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALS2CR8
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    Additional cDNA sequence: 

    AB053309.1 AB053310.1 AF454946.1 AK025232.1 AK225218.1 AK295499.1 AK295703.1 AK299366.1 
    AK304014.1 AK308171.1 AK310640.1 AK316432.1 AL834188.1 AY032876.2 BC021999.1 BC033777.2 

    12 DOTS entries:

    DT.99998185  DT.405837  DT.91732832  DT.107144  DT.121032073  DT.97780315  DT.95262697  DT.102831736 
    DT.121032064  DT.121032086  DT.92051957  DT.92029033 

    24/47 AceView cDNA sequences (see all 47):

    BQ286380 AI094262 AI050677 NM_024744 AA812496 BC033777 AB053309 AI672379 
    CK825814 AL035977 BX107308 AI744905 BP362857 BX446625 AB053310 BI463740 
    AF454946 AW503159 AL834188 BC021999 CF121381 BM993125 BG720017 AK025232 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for ALS2CR8 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^
    SP1:              -     -           -     -     -                             -                                               -                                 
    SP2:                                            -                             -                                               -                                 
    SP3:              -     -                       -     -     -     -     -     -                                                                                 
    SP4:                                -           -           -                 -                                                                                 
    SP5:                                -     -     -     -     -     -     -     -                                               -                                 

    ExUns: 17 ^ 18 ^ 19 ^ 20
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for ALS2CR8

    (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

    ALS2CR8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCACTGAACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ALS2CR8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALS2CR8

    SOURCE GeneReport for Unigene cluster: Hs.444982
        SABiosciences Custom PCR Arrays for ALS2CR8
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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 ALS2CR8 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Carf1 , 5 calcium response factor1, 5 82.73(n)1
    75.04(a)1
      1 (30.45 cM)5
    2410661  NM_139150.41  NP_631889.11 
     600982475 
    chicken
    (Gallus gallus)
    Aves ALS2CR81 amyotrophic lateral sclerosis 2 (juvenile) chromosome more 72.67(n)
    68.21(a)
      424090  XM_421946.3  XP_421946.3 
    zebrafish
    (Danio rerio)
    Actinopterygii als2cr81 amyotrophic lateral sclerosis 2 (juvenile) chromosome more 56.26(n)
    52.56(a)
      555728  XM_678321.5  XP_683413.3 


    ENSEMBL Gene Tree for ALS2CR8 (if available)
    TreeFam Gene Tree for ALS2CR8 (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

    10/968 NCBI SNPs in ALS2CR8 are shown (see all 968    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1818727371,2
    --203779040(+) AGACTA/GTGCAT 2 -- int10--------
    rs1872069341,2
    --203779386(+) AATCCA/GAGCTA 2 -- int10--------
    rs1895142041,2
    --203779459(+) ATCACA/GCCACT 2 -- int10--------
    rs67234551,2
    C--203779515(+) AAAAAA/CAAACA 2 -- int12Minor allele frequency- C:0.00WA NA 4
    rs802843641,2
    C--203779519(+) ACAAAA/CAAAAA 2 -- int10--------
    rs562803951,2
    C--203779579(+) ATGGAC/TTGCAG 2 -- int10--------
    rs1807482881,2
    --203779680(+) TTTTTA/TATTTT 2 -- int10--------
    rs1854011121,2
    --203779801(+) GTGGCA/GCTATC 2 -- int10--------
    rs1899608401,2
    --203779826(+) CCTCCA/GCCTTC 2 -- int10--------
    rs1832162861,2
    --203780056(+) CTCTGC/TTGCCC 2 -- int10--------

    HapMap Linkage Disequilibrium report for ALS2CR8 (203776937 - 203851060 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ALS2CR8
         1 CNV: 6021

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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

    ALS2CR8 for disorders           About GeneDecksing

    OMIM gene information: 607586    OMIM disorders: --

    4 diseases for ALS2CR8:    About MalaCards
    amyotrophic lateral sclerosis    lateral sclerosis    hypertension    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: ALS2CR8 (1 document)

    Export disorders for ALS2CR8 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)
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    PubMed articles for ALS2CR8 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with ALS2CR8)
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    1. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)1, 2, 3 Hadano S....Ikeda J.-E. (2001)
    2. A calcium-responsive transcription factor, CaRF, that regulates neuronal activity-dependent expression of BDNF. (PubMed id 11832226)1, 2, 9 Tao X.... Greenberg M.E. (2002)
    3. 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)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. DBIRD complex integrates alternative mRNA splicing with RNA polymerase II transcript elongation. (PubMed id 22446626)1 Close P.... Svejstrup J.Q. (2012)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. CARF: an emerging regulator of p53 tumor suppressor and senescence pathway. (PubMed id 18555516)1 Cheung C.T....Wadhwa R. (2009)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79800 HGNC: 14435 AceView: ALS2CR8 Ensembl:ENSG00000138380 euGenes: HUgn79800
    ECgene: ALS2CR8 H-InvDB: ALS2CR8

    (According to HUGE)
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      --

    (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
    NameDescription
    PharmGKB entry for ALS2CR8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALS2CR8 gene:
    Search GeneIP for patents involving ALS2CR8

    GeneCards and IP:
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