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

BAIAP2L1 Gene

protein-coding   GIFtS: 54
GCID: GC07M097920

BAI1-Associated Protein 2-Like 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
BAI1-Associated Protein 2-Like 11 2
IRTKS2 3 5
Insulin Receptor Tyrosine Kinase Substrate2 3
BAI1-Associated Protein 2-Like Protein 12 3
Brain-Specific Angiogenesis Inhibitor 1-Associated Protein 2-Like Protein
12

External Ids:    HGNC: 216491   Entrez Gene: 559712   Ensembl: ENSG000000064537   OMIM: 6118775   UniProtKB: Q9UHR43   

Export aliases for BAIAP2L1 gene to outside databases

Previous GC identifers: GC07M097567 GC07M097760 GC07M092521


(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 BAIAP2L1 Gene:
This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be
subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology
3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at
the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This
protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved
in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin
cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and
is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli)
pedestal formation. (provided by RefSeq, Oct 2009)

GeneCards Summary for BAIAP2L1 Gene: 
BAIAP2L1 (BAI1-associated protein 2-like 1) is a protein-coding gene. Diseases associated with BAIAP2L1 include acanthosis nigricans, and dentatorubral-pallidoluysian atrophy. GO annotations related to this gene include actin binding and cytoskeletal adaptor activity. An important paralog of this gene is BAIAP2L2.

UniProtKB/Swiss-Prot: BI2L1_HUMAN, Q9UHR4
Function: May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in
the reorganization of the actin cytoskeleton in response to bacterial infection

Gene Wiki entry for BAIAP2L1 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BAIAP2L1 gene promoter:
         NF-AT4   NF-AT2   p53   POU3F1   NF-AT3   AP-2alpha   AP-2alphaA   NF-AT1   NF-AT   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): BAIAP2L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BAIAP2L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAIAP2L1


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

BAIAP2L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAIAP2L1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M097920:  view genomic region     (about GC identifiers)

Start:
97,920,962 bp from pter      End:
98,030,427 bp from pter
Size:
109,466 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 97,245,828-97,354,031     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BI2L1_HUMAN, Q9UHR4 (See protein sequence)
Recommended Name: Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1  
Size: 511 amino acids; 56883 Da
Subunit: Interacts with RAC1. Binds to F-actin. Interacts with FASLG. Interacts (via SH3 domain) with E.coli
effector protein EspF(U) (via PXXP motifs). Identified in a complex containing at least WASL, BAIAP2L1 and E.coli
EspF(U). Interacts with E.coli intimin receptor Tir
Subcellular location: Cytoplasm, cytoskeleton. Note=Recruited to actin pedestals that are formed upon infection by
bacteria at bacterial attachment sites
Sequence caution: Sequence=AAD20937.1; Type=Erroneous gene model prediction; Sequence=AAS07549.1; Type=Erroneous
initiation; Sequence=BAB15671.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for BAIAP2L1:
2KXC (3D)        2LNH (3D)    
Secondary accessions: A4D268 Q75L21 Q75L22 Q96CV4 Q9H5F5 Q9Y2M8

Explore the universe of human proteins at neXtProt for BAIAP2L1: NX_Q9UHR4

Explore proteomics data for BAIAP2L1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on tyrosine in response to insulin
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UHR4

  • BAIAP2L1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BAIAP2L1 Protein Expression
    REFSEQ proteins: NP_061330.2  
    ENSEMBL proteins: 
     ENSP00000005260  

    Human Recombinant Protein Products for BAIAP2L1: 
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    Cloud-Clone Corp. Proteins for BAIAP2L1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IDA19366662
    GO:0005886plasma membrane IDA--

    BAIAP2L1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR011511 SH3_2
     IPR001452 SH3_domain
     IPR013606 IRSp53/MIM_homology_IMD

    Graphical View of Domain Structure for InterPro Entry Q9UHR4

    ProtoNet protein and cluster: Q9UHR4

    3 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB011511 Variant SH3
    IPB013606 IRSp53/MIM homology domain


    UniProtKB/Swiss-Prot: BI2L1_HUMAN, Q9UHR4
    Domain: The IMD domain is predicted to have a helical structure. It may induce actin bundling and filopodia
    formation (By similarity)
    Similarity: Contains 1 IMD (IRSp53/MIM homology) domain
    Similarity: Contains 1 SH3 domain


    BAIAP2L1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BI2L1_HUMAN, Q9UHR4
    Function: May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in
    the reorganization of the actin cytoskeleton in response to bacterial infection

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0008093cytoskeletal adaptor activity IEA--
    GO:0017124SH3 domain binding IEA--
    GO:0070064proline-rich region binding IDA--
         
    BAIAP2L1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for BAIAP2L1:
     Decreased POU5F1-GFP protein e  Synthetic lethal with c-Myc af 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidBAIAP2L1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAIAP2L1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BAIAP2L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/21 Interacting proteins for BAIAP2L1 (Q9UHR43 ENSP000000052604) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAA2P546463, ENSP000003602904I2D: score=3 STRING: ENSP00000360290
    PRKAB2O437413, ENSP000002541014I2D: score=3 STRING: ENSP00000254101
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    MDM2Q009873, ENSP000004172814I2D: score=1 STRING: ENSP00000417281
    TERF1P542743, ENSP000002766034I2D: score=1 STRING: ENSP00000276603
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction IEA--
    GO:0009617response to bacterium IDA19366662
    GO:0030838positive regulation of actin filament polymerization IDA--
    GO:0046847filopodium assembly IEA--
    GO:2000251positive regulation of actin cytoskeleton reorganization IMP19366662

    BAIAP2L1 for ontologies           About GeneDecksing



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

    BAIAP2L1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for BAIAP2L1 (BI2L1)

    10/26 Novoseek inferred chemical compound relationships for BAIAP2L1 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 87 437 7686917 (5), 1688432 (4), 7927191 (4), 9518262 (4) (see all 99)
    phosphatidylinositol 65 22 1722393 (3), 1688432 (3), 8058065 (2), 7520748 (1) (see all 14)
    phosphotyrosine 62.7 3 7520748 (1), 8071374 (1), 7592686 (1)
    glucose 54.3 26 7927191 (2), 2043221 (1), 1619013 (1), 8263133 (1) (see all 21)
    vanadate 53.7 3 8893518 (1), 8071374 (1), 8131857 (1)
    serine 53.6 13 7818531 (1), 8948451 (1), 7615833 (1), 10871198 (1) (see all 10)
    glycogen 51.3 8 15691882 (1), 8349045 (1), 9374504 (1), 1532777 (1) (see all 8)
    metformin 51.1 10 8529763 (3), 19237574 (1), 15135305 (1), 17953367 (1) (see all 5)
    phenylarsine oxide 51.1 2 1848858 (1)
    threonine 50.3 6 7615833 (1), 10871198 (1), 10923637 (1), 16020478 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about BAIAP2L1 / BI2L1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BAIAP2L1 gene: 
    NM_018842.4  

    Unigene Cluster for BAIAP2L1:

    BAI1-associated protein 2-like 1
    Hs.656063  [show with all ESTs]
    Unigene Representative Sequence: NM_018842
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000005260(uc003upj.3) ENST00000480580 ENST00000462558 ENST00000473569
    ENST00000479789
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    SwitchGear 3'UTR luciferase reporter plasmidBAIAP2L1 3' UTR sequence
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    Additional mRNA sequence: 

    AF119666.2 AK027109.1 AK027142.1 AK074419.1 AK309936.1 BC013888.2 

    17 DOTS entries:

    DT.207771  DT.100036527  DT.443716  DT.100776359  DT.91721714  DT.121050185  DT.40219849  DT.91721710 
    DT.92423453  DT.100776358  DT.100776363  DT.121050301  DT.121050357  DT.91721717  DT.91986070  DT.92464422 
    DT.87014983 

    24/228 AceView cDNA sequences (see all 228):

    AI818554 AK074419 BF772783 BQ222513 BF732309 BM801655 BI335902 BU184917 
    BQ688252 BM797515 NM_018842 BX095632 BU184787 BG034422 AI056972 AI834338 
    AI951663 AA864398 AA877610 AI276862 AI243179 BM551053 AA283613 CB116589 

    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

    BAIAP2L1 expression in normal human tissues (normalized intensities)      BAIAP2L1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGGTCCT
    BAIAP2L1 Expression
    About this image


    BAIAP2L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Medulla Oblongata
             Human Brain Vascular Pericyte (HBVP)   
             brain/forebrain/telencephalon   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose/nasal cavity   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Periportal Hepatocytes Liver Lobule
             liver ; bile duct cells   

    See BAIAP2L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BAIAP2L1

    SOURCE GeneReport for Unigene cluster: Hs.656063
        SABiosciences Custom PCR Arrays for BAIAP2L1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAIAP2L1

    (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 animals.

    Orthologs for BAIAP2L1 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Baiap2l11 , 5 BAI1-associated protein 2-like 11, 5 84.09(n)1
    88.8(a)1
      5 (83.24 cM)5
    668981  NM_025833.31  NP_080109.11 
     1442645265 
    chicken
    (Gallus gallus)
    Aves BAIAP2L11 BAI1-associated protein 2-like 1 70.97(n)
    71.83(a)
      416437  XM_414749.3  XP_414749.2 
    lizard
    (Anolis carolinensis)
    Reptilia BAIAP2L16
    --
    --
    65(a)
    28(a)
    1 ↔ 1
    possible ortholog
    GL344247.1(861-23524)
    GL343329.1(661285-691427)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688222 hypothetical protein MGC68822 74.7(n)    BC061676.1 
    zebrafish
    (Danio rerio)
    Actinopterygii loc559712 insulin receptor tyrosine kinase substrate homolog more 72.62(n)   387261  AY398378.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG320826
    --
    9(a)
    1 → many
    3L(11129149-11157084)


    ENSEMBL Gene Tree for BAIAP2L1 (if available)
    TreeFam Gene Tree for BAIAP2L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BAIAP2L1 gene
    BAIAP2L22  BAIAP22  
    2 SIMAP similar genes for BAIAP2L1 using alignment to 1 protein entry:     BI2L1_HUMAN:
    BAIAP2    BAIAP2L2

    BAIAP2L1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BAIAP2L1
    PGOHUM00000240664


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/2448 SNPs in BAIAP2L1 are shown (see all 2448)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1402659341,2
    C--92531173(+) TTTGG-/TA/TAT
    A
    /TATATA
    TATAT
    2 -- int1 cds10--------
    rs1483090001,2
    C--92532287(+) ACGGG-/GGAAC 
     GCAGAAA
    GGACA
    2 -- int1 cds10--------
    rs1506285741,2
    C--92532287(+) ACGGG-/GGAAC 
     GCAGAAA
    GGACA
    1 -- int10--------
    rs2010578481,2
    C--92532298(-) TGTCCC/TTTCTG 1 -- int10--------
    rs58860621,2
    C--92542456(+) GACTGTG/-GGTGA 1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs345478451,2
    C--92570823(+) AAAGC-/ACGTTA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs725275311,2
    C--92570825(+) AAGCC-/AGTTAG 1 -- int10--------
    rs724000181,2
    C--92572685(+) AAAAT-/ACAC  
            
    ACACA
    1 -- int10--------
    rs358769131,2
    C--92586023(+) TAATT-/A/AA/ 
    AAA
    /AAAA
    AAAAA
    1 -- int11NA 2
    rs580242991,2
    C--92586378(+) AAAAAA/TATATA 1 -- int11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for BAIAP2L1 (97920962 - 98030427 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for BAIAP2L1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2670498CNV Deletion23128226
    esv1113502CNV Deletion17803354
    esv2667839CNV Deletion23128226
    esv2657368CNV Deletion23128226
    nsv888760CNV Loss21882294
    nsv5860CNV Loss18451855
    nsv831067CNV Loss17160897
    esv27479CNV Gain19812545
    nsv888766CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611877    OMIM disorders: --

    17 diseases for BAIAP2L1:    About MalaCards
    acanthosis nigricans    dentatorubral-pallidoluysian atrophy    insulin resistance    gestational diabetes
    hyperandrogenism    essential hypertension    hyperglycemia    leiomyoma
    hypertension    diabetes mellitus    obesity    t-cell leukemia
    hypoxia    rheumatoid arthritis    arthritis    breast cancer
    leukemia

    1 disease from the University of Copenhagen DISEASES database for BAIAP2L1:
    dentatorubral-pallidoluysian atrophy

    BAIAP2L1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/14 Novoseek inferred disease relationships for BAIAP2L1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leprechaunism 65.6 1 9003010 (1)
    insulin resistance 64.8 21 7686917 (4), 1316361 (1), 7895862 (1), 10389840 (1) (see all 17)
    insulin sensitivity 60.3 7 8897006 (2), 7926300 (1), 16968801 (1), 14502098 (1) (see all 6)
    niddm 59.5 23 7927191 (4), 7821730 (2), 1846830 (2), 8393956 (2) (see all 14)
    drpla 55 2 11514062 (1), 10332026 (1)
    insulin tolerance 49.1 1 8897006 (1)
    hyperinsulinemia 41.8 2 9388499 (2)
    hyperglycemia 35.8 4 7508912 (1), 7821730 (1), 11225657 (1), 8529791 (1)
    acanthosis nigricans 29.8 1 9578241 (1)
    diabetes gestational 28.7 2 10871198 (1), 8336874 (1)

    Genetic Association Database (GAD): BAIAP2L1

    Export disorders for BAIAP2L1 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 BAIAP2L1 gene, integrated from 9 sources (see all 294):
    (articles sorted by number of sources associating them with BAIAP2L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterisation of IRTKS, a novel IRSp53/MIM family actin regulator with distinct filament bundling properties. (PubMed id 17430976)1, 2, 9 Millard T.H....Machesky L.M. (2007)
    2. A genome-wide search for loci interacting with known p rostate cancer risk-associated genetic variants. (PubMed id 22219177)1, 4 Tao S....Sun J. (2012)
    3. Recognition of tandem PxxP motifs as a unique Src homology 3-binding mode triggers pathogen-driven actin assembly. (PubMed id 21098279)1, 2 Aitio O.... Permi P. (2010)
    4. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    5. Insulin receptor tyrosine kinase substrate links the E. coli O157:H7 actin assembly effectors Tir and EspF(U) during pedestal format ion. (PubMed id 19366662)1, 2 Vingadassalom D....Leong J.M. (2009)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. 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)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    10. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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: 55971 HGNC: 21649 AceView: LOC55971 Ensembl:ENSG00000006453 euGenes: HUgn55971
    ECgene: BAIAP2L1 H-InvDB: BAIAP2L1

    (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 BAIAP2L1 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 BAIAP2L1 gene:
    Search GeneIP for patents involving BAIAP2L1

    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: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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