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Aliases for BAIAP2L1 Gene

Aliases for BAIAP2L1 Gene

  • BAI1 Associated Protein 2 Like 1 2 3 5
  • Insulin Receptor Tyrosine Kinase Substrate 2 3 4
  • BAI1-Associated Protein 2-Like Protein 1 3 4
  • IRTKS 3 4
  • Brain-Specific Angiogenesis Inhibitor 1-Associated Protein 2-Like Protein 1 3
  • BAI1-Associated Protein 2-Like 1 2

External Ids for BAIAP2L1 Gene

Previous GeneCards Identifiers for BAIAP2L1 Gene

  • GC07M097567
  • GC07M097760
  • GC07M097920
  • GC07M092521

Summaries for BAIAP2L1 Gene

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 Diabetes Mellitus, Noninsulin-Dependent. GO annotations related to this gene include actin binding and proline-rich region binding. An important paralog of this gene is BAIAP2.

UniProtKB/Swiss-Prot for BAIAP2L1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAIAP2L1 Gene

Genomics for BAIAP2L1 Gene

Regulatory Elements for BAIAP2L1 Gene

Enhancers for BAIAP2L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F098350 1 Ensembl ENCODE 18 +43.4 43364 14.1 CREB3L1 ARID4B SIN3A BRCA1 YY1 GTF3C2 ZNF121 GATA2 FOS ZHX2 TRRAP ENSG00000272950 BRI3 BAIAP2L1 LOC100419643 LOC101927550 ENSG00000231859 SMURF1 RPS3AP26
GH07F098433 0.6 ENCODE 17.6 -32.4 -32379 0.2 CTCF PKNOX1 HINFP SIN3A FEZF1 ZNF2 RAD21 ZEB1 ZFHX2 ZNF366 BAIAP2L1 PDAP1 NPTX2 LOC100419643 ENSG00000272950 PIR35529
GH07F098364 0.6 FANTOM5 13.4 +36.1 36117 0.0 BAIAP2L1 RPS3AP26 ENSG00000272950
GH07F098374 0.2 ENCODE 12.6 +26.6 26632 0.2 BAIAP2L1 RPS3AP26 ENSG00000272950
GH07F098378 0.9 ENCODE 12.5 +22.3 22278 1.4 ZNF121 PKNOX1 ZNF146 ENSG00000272950 BAIAP2L1 RPS3AP26
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BAIAP2L1 on UCSC Golden Path with GeneCards custom track

Promoters for BAIAP2L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001562162 815 2601 PKNOX1 SIN3A ZNF48 ZNF2 ZNF121 GLIS2 ZNF143 ZNF202 ZNF263 SP3

Genomic Location for BAIAP2L1 Gene

Chromosome:
7
Start:
98,291,650 bp from pter
End:
98,401,115 bp from pter
Size:
109,466 bases
Orientation:
Minus strand

Genomic View for BAIAP2L1 Gene

Genes around BAIAP2L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAIAP2L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAIAP2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAIAP2L1 Gene

Proteins for BAIAP2L1 Gene

  • Protein details for BAIAP2L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHR4-BI2L1_HUMAN
    Recommended name:
    Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1
    Protein Accession:
    Q9UHR4
    Secondary Accessions:
    • A4D268
    • Q75L21
    • Q75L22
    • Q96CV4
    • Q9H5F5
    • Q9Y2M8

    Protein attributes for BAIAP2L1 Gene

    Size:
    511 amino acids
    Molecular mass:
    56883 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAD20937.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAS07549.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15671.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BAIAP2L1 Gene

neXtProt entry for BAIAP2L1 Gene

Post-translational modifications for BAIAP2L1 Gene

Other Protein References for BAIAP2L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BAIAP2L1 Gene

Domains & Families for BAIAP2L1 Gene

Gene Families for BAIAP2L1 Gene

Suggested Antigen Peptide Sequences for BAIAP2L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHR4

UniProtKB/Swiss-Prot:

BI2L1_HUMAN :
  • The IMD domain is predicted to have a helical structure. It may induce actin bundling and filopodia formation (By similarity).
Domain:
  • The IMD domain is predicted to have a helical structure. It may induce actin bundling and filopodia formation (By similarity).
  • Contains 1 IMD (IRSp53/MIM homology) domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with BAIAP2L1: view

Function for BAIAP2L1 Gene

Molecular function for BAIAP2L1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for BAIAP2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 25519916
GO:0008093 cytoskeletal adaptor activity IBA --
GO:0070064 proline-rich region binding IDA 21098279
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with BAIAP2L1: view
genes like me logo Genes that share phenotypes with BAIAP2L1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BAIAP2L1 Gene

Localization for BAIAP2L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAIAP2L1 Gene

Cytoplasm, cytoskeleton. Note=Recruited to actin pedestals that are formed upon infection by bacteria at bacterial attachment sites.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BAIAP2L1 Gene COMPARTMENTS Subcellular localization image for BAIAP2L1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for BAIAP2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IDA 19366662
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with BAIAP2L1: view

Pathways & Interactions for BAIAP2L1 Gene

SuperPathways for BAIAP2L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BAIAP2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007009 plasma membrane organization IEA --
GO:0008286 insulin receptor signaling pathway IBA --
GO:0009617 response to bacterium IDA 19366662
GO:0030833 regulation of actin filament polymerization IEA --
GO:0030838 positive regulation of actin filament polymerization IDA 21098279
genes like me logo Genes that share ontologies with BAIAP2L1: view

No data available for Pathways by source and SIGNOR curated interactions for BAIAP2L1 Gene

Drugs & Compounds for BAIAP2L1 Gene

(17) Drugs for BAIAP2L1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for BAIAP2L1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BAIAP2L1: view

Transcripts for BAIAP2L1 Gene

Unigene Clusters for BAIAP2L1 Gene

BAI1-associated protein 2-like 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BAIAP2L1 Gene

No ASD Table

Relevant External Links for BAIAP2L1 Gene

GeneLoc Exon Structure for
BAIAP2L1
ECgene alternative splicing isoforms for
BAIAP2L1

Expression for BAIAP2L1 Gene

mRNA expression in normal human tissues for BAIAP2L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BAIAP2L1 Gene

This gene is overexpressed in Stomach (x4.5), Pancreas (x4.5), and Esophagus - Mucosa (x4.3).

Protein differential expression in normal tissues from HIPED for BAIAP2L1 Gene

This gene is overexpressed in Breast (21.1), Islet of Langerhans (12.5), Stomach (10.0), and Placenta (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BAIAP2L1 Gene



NURSA nuclear receptor signaling pathways regulating expression of BAIAP2L1 Gene:

BAIAP2L1

SOURCE GeneReport for Unigene cluster for BAIAP2L1 Gene:

Hs.656063
genes like me logo Genes that share expression patterns with BAIAP2L1: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for BAIAP2L1 Gene

Orthologs for BAIAP2L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAIAP2L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BAIAP2L1 34 35
  • 99.02 (n)
dog
(Canis familiaris)
Mammalia BAIAP2L1 34 35
  • 86.76 (n)
mouse
(Mus musculus)
Mammalia Baiap2l1 34 16 35
  • 84.15 (n)
rat
(Rattus norvegicus)
Mammalia Baiap2l1 34
  • 83.24 (n)
cow
(Bos Taurus)
Mammalia BAIAP2L1 34 35
  • 82.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BAIAP2L1 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BAIAP2L1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAIAP2L1 34 35
  • 70.97 (n)
lizard
(Anolis carolinensis)
Reptilia BAIAP2L1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baiap2l1 34
  • 65.08 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68822 34
zebrafish
(Danio rerio)
Actinopterygii FP340264.1 35
  • 78 (a)
OneToMany
baiap2l1a 35
  • 67 (a)
OneToMany
baiap2l1b 34 35
  • 60.39 (n)
loc55971 34
fruit fly
(Drosophila melanogaster)
Insecta CG32082 35
  • 12 (a)
OneToMany
Species where no ortholog for BAIAP2L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BAIAP2L1 Gene

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

Paralogs for BAIAP2L1 Gene

Paralogs for BAIAP2L1 Gene

(2) SIMAP similar genes for BAIAP2L1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for BAIAP2L1 Gene

genes like me logo Genes that share paralogs with BAIAP2L1: view

Variants for BAIAP2L1 Gene

Sequence variations from dbSNP and Humsavar for BAIAP2L1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1006169 -- 98,309,131(+) ACTTC(A/G)CTGGT intron-variant, utr-variant-3-prime
rs10224009 -- 98,361,305(+) tgagc(C/T)gagat intron-variant
rs10224123 -- 98,361,299(+) ttgca(A/G)tgagc intron-variant
rs10228860 -- 98,393,038(+) atata(C/T)atata intron-variant
rs10228934 -- 98,392,950(+) accac(A/G)cccag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BAIAP2L1 Gene

Variant ID Type Subtype PubMed ID
esv1113502 CNV deletion 17803354
esv2657368 CNV deletion 23128226
esv2667839 CNV deletion 23128226
esv2670498 CNV deletion 23128226
esv27479 CNV gain 19812545
esv3542133 CNV deletion 23714750
esv3614253 CNV loss 21293372
esv3614254 CNV loss 21293372
esv3614255 CNV loss 21293372
esv3614256 CNV loss 21293372
nsv1016826 CNV loss 25217958
nsv1112942 CNV deletion 24896259
nsv1119133 CNV deletion 24896259
nsv1124244 CNV deletion 24896259
nsv5860 CNV deletion 18451855
nsv607919 CNV loss 21841781
nsv831067 CNV loss 17160897
nsv966862 CNV duplication 23825009

Variation tolerance for BAIAP2L1 Gene

Residual Variation Intolerance Score: 51.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.54; 44.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BAIAP2L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAIAP2L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAIAP2L1 Gene

Disorders for BAIAP2L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BAIAP2L1 Gene - From: Novoseek

Disorder Aliases PubMed IDs
diabetes mellitus, noninsulin-dependent
  • diabetes, type 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BAIAP2L1

Genetic Association Database (GAD)
BAIAP2L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAIAP2L1
genes like me logo Genes that share disorders with BAIAP2L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAIAP2L1 Gene

Publications for BAIAP2L1 Gene

  1. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S. … Sun J. (Carcinogenesis 2012) 3 46 64
  2. Enterohaemorrhagic Escherichia coli exploits a tryptophan switch to hijack host f-actin assembly. (PMID: 22921828) Aitio O. … Permi P. (Structure 2012) 3 4 64
  3. Recognition of tandem PxxP motifs as a unique Src homology 3-binding mode triggers pathogen-driven actin assembly. (PMID: 21098279) Aitio O. … Permi P. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 64
  4. Insulin receptor tyrosine kinase substrate links the E. coli O157:H7 actin assembly effectors Tir and EspF(U) during pedestal formation. (PMID: 19366662) Vingadassalom D. … Leong J.M. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 64
  5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M. … Janssen O. (BMC Immunol. 2009) 3 4 64

Products for BAIAP2L1 Gene

Sources for BAIAP2L1 Gene

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