Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55971
Gene name Gene Name - the full gene name approved by the HGNC.
BAR/IMD domain containing adaptor protein 2 like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BAIAP2L1
Synonyms (NCBI Gene) Gene synonyms aliases
IRTKS
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.3-q22.1
Summary Summary of gene provided in NCBI Entrez 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 th
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT740076 hsa-miR-1184 CLIP-seq
MIRT815516 hsa-miR-1205 CLIP-seq
MIRT815517 hsa-miR-1250 CLIP-seq
MIRT815518 hsa-miR-1262 CLIP-seq
MIRT815519 hsa-miR-1297 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 21098279, 22921828, 25519916, 26496610, 32296183, 33961781, 35271311
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611877 21649 ENSG00000006453
Protein
UniProt ID Q9UHR4
Protein name BAR/IMD domain-containing adapter protein 2-like 1 (Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1) (BAI1-associated protein 2-like protein 1) (Insulin receptor tyrosine kinase substrate)
Protein 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. {ECO:0000269|PubMed:17430976, ECO:0000269|PubMed:19366662,
PDB 2KXC , 2LNH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08397 IMD 16 236 IRSp53/MIM homology domain Family
PF14604 SH3_9 347 398 Variant SH3 domain Domain
Sequence
MSRGPEEVNRLTESTYRNVMEQFNPGLRNLINLGKNYEKAVNAMILAGKAYYDGVAKIGE
IATGSPVSTELGHVLIEISSTHKKLNESLDENFKKFHKEIIHELEKKIELDVKYMNATLK
RYQTEHKNKLESLEKSQAELKKIRRKSQGSRNALKYEHKEIEYVETVTSRQSEIQKFIAD
GCKEALLEEKRRFCFLVDKHCGFANHIHYYHLQSAELLNSKLPRWQETCVDAIKVP
EKIM
NMIEEIKTPASTPVSGTPQASPMIERSNVVRKDYDTLSKCSPKMPPAPSGRAYTSPLIDM
FNNPATAAPNSQRVNNSTGTSEDPSLQRSVSVATGLNMMKKQKVKTIFPHTAGSNKTLLS
FAQGDVITLLIPEEKDGWLYGEHDVSKARGWFPSSYTK
LLEENETEAVTVPTPSPTPVRS
ISTVNLSENSSVVIPPPDYLECLSMGAAADRRADSARTTSTFKAPASKPETAAPNDANGT
AKPPFLSGENPFATVKLRPTVTNDRSAPIIR
Sequence length 511
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Pathogenic Escherichia coli infection  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast cancer, Invasive breast cancer N/A N/A GWAS
Gout Gout N/A N/A GWAS
Hypogonadism Hypogonadism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Stimulate 36308067
Carcinoma Hepatocellular Associate 26222696
Lymphatic Metastasis Stimulate 36308067
Neoplasms Associate 26222696, 26892443, 37248248
Ovarian Neoplasms Stimulate 26222696
Pancreatic Neoplasms Associate 34321959
Stomach Neoplasms Associate 34374630
Thyroid Cancer Papillary Associate 36217175
Thyroiditis Associate 36217175
Triple Negative Breast Neoplasms Associate 36308067