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

ALS2CL Gene

protein-coding   GIFtS: 51
GCID: GC03M046685

ALS2 C-terminal like

 Explore 5 diseases affiliated with
ALS2CL via our new
 Human Malady Compendium 
Biological research products
for ALS2CL
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
ALS2 C-Terminal Like1 2
RN490181 2
DKFZp686I01101
FLJ365251
ALS2 C-Terminal-Like Protein2

External Ids:    HGNC: 206051   Entrez Gene: 2591732   Ensembl: ENSG000001780387   OMIM: 6124025   UniProtKB: Q60I273   
ORGUL members:         
NONCODE:n409415    

Export aliases for ALS2CL gene to outside databases

Previous GC identifer: GC00U900924


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

UniProtKB/Swiss-Prot: AL2CL_HUMAN, Q60I27
Function: Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome
dynamics




(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_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALS2CL gene promoter:
         Max1   Elk-1   NF-1   COMP1   c-Myc   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALS2CL promoter sequence
   Search SABiosciences Chromatin IP Primers for ALS2CL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALS2CL


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

ALS2CL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALS2CL gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M046685:  view genomic region     (about GC identifiers)

Start:
46,710,485 bp from pter      End:
46,735,194 bp from pter
Size:
24,710 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: AL2CL_HUMAN, Q60I27 (See protein sequence)
Recommended Name: ALS2 C-terminal-like protein  
Size: 953 amino acids; 107748 Da
Subunit: Homodimer. Forms a heteromeric complex with ALS2 (By similarity). Interacts with ALS2 and RAB5A
Subcellular location: Cytoplasm. Note=Distributed onto the vesicular compartments in the cytoplasm with strong
punctated staining. Colocalizes with RAB5A onto the vesicular/membranous compartments in the cytoplasm, particularly
to the leading edges of the cells
Sequence caution: Sequence=BAD18450.1; Type=Frameshift; Positions=878;
Secondary accessions: Q32MA1 Q6AI56 Q6ZNC5 Q6ZNC7 Q6ZTL4 Q86YD2 Q8N9U1 Q8NAL7
Alternative splicing: 6 isoforms:  Q60I27-1   Q60I27-2   Q60I27-3   Q60I27-4   Q60I27-5   Q60I27-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALS2CL: NX_Q60I27

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q60I27

  • ALS2CL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001177636.1  NP_667340.2  NP_877576.1  

    ENSEMBL proteins: 
     ENSP00000313670   ENSP00000405335   ENSP00000413223   ENSP00000373248   ENSP00000416575  
     ENSP00000395663   ENSP00000395749  

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    Uscn Proteins for ALS2CL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--


    ALS2CL for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ALS2CL


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

    ALS2CL for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000219 DH-domain
     IPR003123 VPS9
     IPR003409 MORN

    Graphical View of Domain Structure for InterPro Entry Q60I27

    ProtoNet protein and cluster: Q60I27

    UniProtKB/Swiss-Prot: AL2CL_HUMAN, Q60I27
    Similarity: Contains 8 MORN repeats
    Similarity: Contains 1 VPS9 domain


    (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: AL2CL_HUMAN, Q60I27
    Function: Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome
    dynamics

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    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding ----
    GO:0017137Rab GTPase binding IEA--
    GO:0042802identical protein binding IPI17239822


    ALS2CL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ALS2CL:
     Decreased nuclei size in G2M 


    (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 ALS2CL

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ALS2CL (Q60I273 ENSP000003136704) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAB5AP203393, ENSP000002730474I2D: score=2 STRING: ENSP00000273047
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007032endosome organization IGI17239822
    GO:0008104protein localization IEA--
    GO:0035023regulation of Rho protein signal transduction IEA--


    ALS2CL 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
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    Browse Tocris compounds for ALS2CL

    3 HMDB Compounds for ALS2CL    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about ALS2CL / AL2CL 

    (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 ALS2CL gene (3 alternative transcripts): 
    NM_001190707.1  NM_147129.3  NM_182775.2  

    Unigene Cluster for ALS2CL:

    ALS2 C-terminal like
    Hs.517937  [show with all ESTs]
    Unigene Representative Sequence: CR627258
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486301(uc003cpx.2 uc003cpy.2) ENST00000318962(uc003cpz.2 uc003cqa.2 uc003cqc.2 uc003cqb.2)
    ENST00000434140 ENST00000415953 ENST00000383742 ENST00000431015 ENST00000450172
    ENST00000423707 ENST00000498817 ENST00000473484

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ALS2CL:
    hsa-miR-491-5p
    SwitchGear 3'UTR luciferase reporter plasmidALS2CL 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB107015.1 AK074118.1 AK092455.1 AK093844.1 AK097225.1 AK131270.1 AK131273.1 AL832132.1 
    BC042906.1 BC061883.1 BC075825.1 BC109233.1 CR627258.1 NR_033815.1 

    15 DOTS entries:

    DT.100025982  DT.100757908  DT.100025981  DT.100025983  DT.100820858  DT.95286174  DT.95138296  DT.100820865 
    DT.95319784  DT.97780604  DT.100708557  DT.100801526  DT.120655719  DT.40287752  DT.99930587 

    24/100 AceView cDNA sequences (see all 100):

    BU685010 AK092455 BM666636 CB127478 AX747555 AK131270 BI061592 AK126505 
    BQ045190 NM_182775 CB306746 AX748334 NM_147129 AA151264 BX386066 BQ926546 
    AI225005 AK093844 AA557247 NM_182774 CA310537 CB126816 AK074118 CA311924 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for ALS2CL (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^
    SP1:                    -                                               -                                                                       -     -         
    SP2:                    -                                               -                                                                       -     -         
    SP3:                                                                    -                                                                       -     -         
    SP4:                    -                                               -                                                                       -     -         
    SP5:                                                                    -                                                                       -     -         

    ExUns: 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b · 28c · 28d · 28e · 28f
    SP1:                                                              -                                             
    SP2:              -                                               -                                             
    SP3:              -                                               -                                             
    SP4:                                                              -                                             
    SP5:                                                              -                                             


    ECgene alternative splicing isoforms for ALS2CL

    (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

    ALS2CL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGATGCTGAC

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

    About this image

    ALS2CL 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 CellCategory (developmental path)
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ALS2CL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALS2CL

    SOURCE GeneReport for Unigene cluster: Hs.517937

    UniProtKB/Swiss-Prot: AL2CL_HUMAN, Q60I27
    Tissue specificity: Expressed in heart and kidney

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALS2CL

    (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 ALS2CL gene from 2/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ALS2CL1 ALS2 C-terminal like 61.74(n)
    55.95(a)
      428401  XM_003640647.1  XP_003640695.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALS2CL6
    --
    54(a)
    1 ↔ 1
    GL343449.1(386493-425949)


    ENSEMBL Gene Tree for ALS2CL (if available)
    TreeFam Gene Tree for ALS2CL (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALS2CL gene
    JPH22  RSPH10B2  JPH42  MORN42  JPH12  JPH32  RSPH10B22  MORN12  
    RSPH12  ALS22  MORN32  
    3 SIMAP similar genes for ALS2CL using alignment to 5 protein entries:     AL2CL_HUMAN (see all proteins):
    FLJ00189    MORN4    ALS2

    ALS2CL 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

    10/592 NCBI SNPs in ALS2CL are shown (see all 592    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1427596501,2
    --46710002(+) TGGGCC/TGTGTC 4 -- ds50010--------
    rs1472542591,2
    --46710024(+) CTCTCC/TACTCT 4 -- ds50010--------
    rs754638861,2
    C--46710051(+) AAGTGC/TCATTT 4 -- ds50010--------
    rs9394131,2
    C,F,H,--46710098(+) TCACCG/ACTGAA 4 -- ds500128Minor allele frequency- A:0.08NA NS EA WA CSA 2210
    rs9394151,2
    C,H,--46710162(+) GAGCTG/AGGCCC 4 -- ds500115Minor allele frequency- A:0.03MN NS EA NA WA CSA 854
    rs1410006761,2
    --46710173(+) TGCCAA/GGCTGC 4 -- ds50010--------
    rs1449723451,2
    --46710274(+) GCCAGA/GGGCTC 4 -- ds50010--------
    rs1479278141,2
    --46710291(+) CAGCTA/GGGAGA 4 -- ds50010--------
    rs39302021,2
    C,F,H,--46710372(+) TACAGG/CAAGGA 4 -- ds500117Minor allele frequency- C:0.08NS EA NA WA CSA 693
    rs1904980681,2
    --46710520(+) TATTTG/TTATTT 4 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for ALS2CL (46710485 - 46735194 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for ALS2CL
         4 CNVs: 31104 51105 51104 3428
    Human Gene Mutation Database (HGMD): ALS2CL

    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

    ALS2CL for disorders           About GeneDecksing

    OMIM gene information: 612402    OMIM disorders: --

    5 diseases for ALS2CL:    About MalaCards
    blepharitis    squamous cell carcinoma    pneumonia    carcinoma
    malaria

    1 disease from the University of Copenhagen DISEASES database for ALS2CL:
    Blepharitis

    Export disorders for ALS2CL 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 ALS2CL gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with ALS2CL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics. (PubMed id 17239822)1, 2, 3 Suzuki-Utsunomiya K.... Ikeda J.-E. (2007)
    2. ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics. (PubMed id 15388334)1, 2, 3 Hadano S.... Ikeda J.-E. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1, 3 Bonaldo M.F.... Soares M.B. (1996)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Multiple tumor-suppressor genes on chromosome 3p cont ribute to head and neck squamous cell carcinoma tumorigenesis. (PubMed id 20657180)1 Lee D.J....Su G.H. (2010)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    9. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    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)
    About This Section
    Entrez Gene: 259173 HGNC: 20605 AceView: ALS2CL Ensembl:ENSG00000178038 euGenes: HUgn259173
    ECgene: ALS2CL H-InvDB: ALS2CL

    (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
    NameDescription
    PharmGKB entry for ALS2CL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ALS2CL gene:
    Search GeneIP for patents involving ALS2CL

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



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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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