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Aliases for BAIAP2L2 Gene

Aliases for BAIAP2L2 Gene

  • BAI1 Associated Protein 2 Like 2 2 3 5
  • Planar Intestinal- And Kidney-Specific BAR Domain Protein 2 3 4
  • Brain-Specific Angiogenesis Inhibitor 1-Associated Protein 2-Like Protein 2 3 4
  • BAI1-Associated Protein 2-Like Protein 2 3 4
  • Pinkbar 3 4
  • BAI1-Associated Protein 2-Like 2 2

External Ids for BAIAP2L2 Gene

Previous GeneCards Identifiers for BAIAP2L2 Gene

  • GC22M036806
  • GC22M038480
  • GC22M021445
  • GC22M038394
  • GC22M038517
  • GC22M042804
  • GC22M038828
  • GC22M039965
  • GC22M040656
  • GC22M041105
  • GC22M041509
  • GC22M041918
  • GC22M042358
  • GC22M042690

Summaries for BAIAP2L2 Gene

Entrez Gene Summary for BAIAP2L2 Gene

  • The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]

GeneCards Summary for BAIAP2L2 Gene

BAIAP2L2 (BAI1 Associated Protein 2 Like 2) is a Protein Coding gene. Diseases associated with BAIAP2L2 include Neurodegeneration With Brain Iron Accumulation 2B. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and cytoskeletal adaptor activity. An important paralog of this gene is BAIAP2.

UniProtKB/Swiss-Prot for BAIAP2L2 Gene

  • Phosphoinositides-binding protein that induces the formation of planar or gently curved membrane structures. Binds to phosphoinositides, including to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) headgroups. There seems to be no clear preference for a specific phosphoinositide (By similarity).

Additional gene information for BAIAP2L2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAIAP2L2 Gene

Genomics for BAIAP2L2 Gene

GeneHancer (GH) Regulatory Elements for BAIAP2L2 Gene

Promoters and enhancers for BAIAP2L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J038107 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 629.1 +1.1 1121 6.1 ZNF652 ELF3 MNT TFE3 SP1 HNF1A PPARG SP5 ZNF644 KAT8 BAIAP2L2 PLA2G6 ANKRD54 PICK1 SLC16A8 ENSG00000272669 ENSG00000272720
GH22J038067 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 23.8 +42.0 42014 3.5 ZNF148 CTCF ZBTB33 POLR2A NRF1 SCRT2 SMC3 RAD21 VEZF1 ZNF2 BAIAP2L2 EIF3L PICK1 ENSG00000233739
GH22J038087 Promoter 0.8 Ensembl 38 +22.1 22103 1.6 USF1 ZKSCAN1 ZNF143 ZBTB33 ZMYM3 ENSG00000272720 BAIAP2L2 PICK1 PLA2G6 TMEM184B SLC16A8
GH22J038174 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -67.5 -67505 8.7 HDGF ZNF652 SP1 CC2D1A ELF3 ZKSCAN8 MNT CBFA2T2 MLLT1 ZNF121 PLA2G6 DDX17 MAFF ENSG00000228274 CSNK1E ANKRD54 CBY1 ENSG00000230912 GGA1 TMEM184B
GH22J038200 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.7 -92.1 -92084 5.9 ZNF652 ZFX ELF3 MNT NKRF MLLT1 ZNF121 GTF2F1 ZNF687 AHR MAFF ENSG00000228274 CBY1 ANKRD54 BAIAP2L2 CARD10 TMEM184B FAM227A PLA2G6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAIAP2L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BAIAP2L2 gene promoter:
  • AP-2gamma
  • Elk-1
  • GCNF
  • MyoD
  • NF-kappaB1
  • NF-kappaB2
  • Pax-5
  • USF-1
  • USF1

Genomic Locations for BAIAP2L2 Gene

Genomic Locations for BAIAP2L2 Gene
chr22:38,084,883-38,111,304
(GRCh38/hg38)
Size:
26,422 bases
Orientation:
Minus strand
chr22:38,480,896-38,506,677
(GRCh37/hg19)
Size:
25,782 bases
Orientation:
Minus strand

Genomic View for BAIAP2L2 Gene

Genes around BAIAP2L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAIAP2L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAIAP2L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAIAP2L2 Gene

Proteins for BAIAP2L2 Gene

  • Protein details for BAIAP2L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXY1-BI2L2_HUMAN
    Recommended name:
    Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2
    Protein Accession:
    Q6UXY1
    Secondary Accessions:
    • B0QYE2
    • Q96BG7

    Protein attributes for BAIAP2L2 Gene

    Size:
    529 amino acids
    Molecular mass:
    58987 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BAIAP2L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAIAP2L2 Gene

Post-translational modifications for BAIAP2L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BAIAP2L2 Gene

Domains & Families for BAIAP2L2 Gene

Gene Families for BAIAP2L2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BAIAP2L2 Gene

GenScript: Design optimal peptide antigens:
  • BAI1-associated protein 2-like 2 (B0QYF0_HUMAN)
  • Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 (BI2L2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UXY1

UniProtKB/Swiss-Prot:

BI2L2_HUMAN :
  • The IMD domain consisting of an antiparallel dimer of three-helix bundles, featuring on one side a positively charged. The N-terminal alpha-helix inserts into the lipid bilayer. Also forms homodimers and homooligomers. The residue Trp-141 is essential for oligomer formation (By similarity).
Domain:
  • The IMD domain consisting of an antiparallel dimer of three-helix bundles, featuring on one side a positively charged. The N-terminal alpha-helix inserts into the lipid bilayer. Also forms homodimers and homooligomers. The residue Trp-141 is essential for oligomer formation (By similarity).
genes like me logo Genes that share domains with BAIAP2L2: view

Function for BAIAP2L2 Gene

Molecular function for BAIAP2L2 Gene

UniProtKB/Swiss-Prot Function:
Phosphoinositides-binding protein that induces the formation of planar or gently curved membrane structures. Binds to phosphoinositides, including to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) headgroups. There seems to be no clear preference for a specific phosphoinositide (By similarity).

Phenotypes From GWAS Catalog for BAIAP2L2 Gene

Gene Ontology (GO) - Molecular Function for BAIAP2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005543 phospholipid binding ISS --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with BAIAP2L2: view
genes like me logo Genes that share phenotypes with BAIAP2L2: view

Animal Models for BAIAP2L2 Gene

MGI Knock Outs for BAIAP2L2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAIAP2L2

Clone Products

  • Applied Biological Materials (abm): Clones for BAIAP2L2 - Now 50% OFF >
  • * BAIAP2L2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * BAIAP2L2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BAIAP2L2 Gene

Localization for BAIAP2L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAIAP2L2 Gene

Cell membrane; Peripheral membrane protein. Cell junction. Cytoplasmic vesicle membrane. Note=Localizes to RAB13-positive vesicles and to the plasma membrane at intercellular contacts.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAIAP2L2 gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 3
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for BAIAP2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IBA 21873635
GO:0005829 cytosol IBA 21873635
GO:0005886 plasma membrane IEA --
GO:0012506 vesicle membrane IDA 21743456
GO:0015629 actin cytoskeleton IBA 21873635
genes like me logo Genes that share ontologies with BAIAP2L2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BAIAP2L2 Gene

Pathways & Interactions for BAIAP2L2 Gene

PathCards logo

SuperPathways for BAIAP2L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BAIAP2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007009 plasma membrane organization IEA --
GO:0030838 positive regulation of actin filament polymerization IBA 21873635
GO:0051017 actin filament bundle assembly IBA 21873635
GO:0051764 actin crosslink formation IBA 21873635
GO:0061024 membrane organization ISS --
genes like me logo Genes that share ontologies with BAIAP2L2: view

No data available for Pathways by source and SIGNOR curated interactions for BAIAP2L2 Gene

Drugs & Compounds for BAIAP2L2 Gene

No Compound Related Data Available

Transcripts for BAIAP2L2 Gene

mRNA/cDNA for BAIAP2L2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(46) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for BAIAP2L2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAIAP2L2

Clone Products

  • Applied Biological Materials (abm): Clones for BAIAP2L2 - Now 50% OFF >
  • * BAIAP2L2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * BAIAP2L2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for BAIAP2L2 Gene

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

Relevant External Links for BAIAP2L2 Gene

GeneLoc Exon Structure for
BAIAP2L2
ECgene alternative splicing isoforms for
BAIAP2L2

Expression for BAIAP2L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BAIAP2L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BAIAP2L2 Gene

This gene is overexpressed in Colon - Transverse (x10.9), Small Intestine - Terminal Ileum (x10.2), and Kidney - Cortex (x8.7).

Protein differential expression in normal tissues from HIPED for BAIAP2L2 Gene

This gene is overexpressed in Heart (46.3) and Adipocyte (22.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BAIAP2L2 Gene



Protein tissue co-expression partners for BAIAP2L2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BAIAP2L2 Gene:

BAIAP2L2

SOURCE GeneReport for Unigene cluster for BAIAP2L2 Gene:

Hs.474822

mRNA Expression by UniProt/SwissProt for BAIAP2L2 Gene:

Q6UXY1-BI2L2_HUMAN
Tissue specificity: Expressed in the epithelial layer of the intestine (at protein level).

Evidence on tissue expression from TISSUES for BAIAP2L2 Gene

  • Eye(4)
genes like me logo Genes that share expression patterns with BAIAP2L2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BAIAP2L2 Gene

Orthologs for BAIAP2L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAIAP2L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BAIAP2L2 35 34
  • 99.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BAIAP2L2 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAIAP2L2 35 34
  • 89.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Baiap2l2 17 35 34
  • 88.61 (n)
rat
(Rattus norvegicus)
Mammalia Baiap2l2 34
  • 86.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BAIAP2L2 35
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BAIAP2L2 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAIAP2L2 35
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAIAP2L2 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baiap2l2 34
  • 59.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19687 34
zebrafish
(Danio rerio)
Actinopterygii baiap2l2 35 34
  • 52.09 (n)
OneToMany
BAIAP2L2 (1 of 2) 35
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32082 35
  • 11 (a)
OneToMany
Species where no ortholog for BAIAP2L2 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 BAIAP2L2 Gene

ENSEMBL:
Gene Tree for BAIAP2L2 (if available)
TreeFam:
Gene Tree for BAIAP2L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BAIAP2L2: view image

Paralogs for BAIAP2L2 Gene

Paralogs for BAIAP2L2 Gene

(2) SIMAP similar genes for BAIAP2L2 Gene using alignment to 3 proteins:

  • BI2L2_HUMAN
  • B0QYF0_HUMAN
  • Q9H661_HUMAN
genes like me logo Genes that share paralogs with BAIAP2L2: view

Variants for BAIAP2L2 Gene

Sequence variations from dbSNP and Humsavar for BAIAP2L2 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs11570769 uncertain-significance, Infantile neuroaxonal dystrophy 38,111,860(-) C/T upstream_transcript_variant
rs11570770 likely-benign, Infantile neuroaxonal dystrophy 38,111,811(-) G/A/C/T upstream_transcript_variant
rs11570771 uncertain-significance, Infantile neuroaxonal dystrophy 38,111,572(-) G/C upstream_transcript_variant
rs121908680 likely-pathogenic, pathogenic, Infantile neuroaxonal dystrophy, Iron accumulation in brain, not provided, Inborn genetic diseases 38,112,212(-) A/C upstream_transcript_variant
rs121908686 pathogenic, Parkinson disease 14 38,112,558(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BAIAP2L2 Gene

Variant ID Type Subtype PubMed ID
esv1386806 CNV insertion 17803354
esv2724223 CNV deletion 23290073
esv3345707 CNV duplication 20981092
esv996111 CNV insertion 20482838
nsv3623 CNV insertion 18451855
nsv471198 CNV loss 18288195
nsv508732 CNV insertion 20534489
nsv513591 CNV insertion 21212237
nsv589008 CNV loss 21841781
nsv829205 CNV loss 20364138
nsv829206 CNV gain 20364138
nsv834193 CNV loss 17160897
nsv834194 CNV loss 17160897

Variation tolerance for BAIAP2L2 Gene

Residual Variation Intolerance Score: 54.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.92; 98.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAIAP2L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAIAP2L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAIAP2L2 Gene

Disorders for BAIAP2L2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BAIAP2L2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neurodegeneration with brain iron accumulation 2b
  • nbia2b
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BAIAP2L2

genes like me logo Genes that share disorders with BAIAP2L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAIAP2L2 Gene

Publications for BAIAP2L2 Gene

  1. Pinkbar is an epithelial-specific BAR domain protein that generates planar membrane structures. (PMID: 21743456) Pykäläinen A … Lappalainen P (Nature structural & molecular biology 2011) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 58
  5. Functional analysis of Dictyostelium IBARa reveals a conserved role of the I-BAR domain in endocytosis. (PMID: 21401524) Veltman DM … Insall RH (The Biochemical journal 2011) 3 58

Products for BAIAP2L2 Gene

Sources for BAIAP2L2 Gene

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