BAIAP2L2 (BAR/IMD domain containing adaptor protein 2 like 2)

Gene

• Entrez ID: 80115
• Gene name: BAR/IMD domain containing adaptor protein 2 like 2
• Gene symbol: BAIAP2L2
• Synonyms (NCBI Gene): -
• Chromosome: 22
• Chromosome location: 22q13.1
• Summary: 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 RefSe

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT815579	hsa-miR-3917	CLIP-seq
MIRT815580	hsa-miR-493	CLIP-seq
MIRT1941265	hsa-miR-4686	CLIP-seq
MIRT1941266	hsa-miR-626	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005543	Function	Phospholipid binding	IEA
GO:0005543	Function	Phospholipid binding	ISS
GO:0005654	Component	Nucleoplasm	IBA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0007009	Process	Plasma membrane organization	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0012506	Component	Vesicle membrane	IDA	21743456
GO:0016020	Component	Membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030838	Process	Positive regulation of actin filament polymerization	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0044291	Component	Cell-cell contact zone	IDA	21743456
GO:0051017	Process	Actin filament bundle assembly	IBA
GO:0051764	Process	Actin crosslink formation	IBA
GO:0061024	Process	Membrane organization	IEA
GO:0061024	Process	Membrane organization	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0071439	Component	Clathrin complex	IDA	21401524

Other IDs

• MIM: 617536
• HGNC: 26203
• e!Ensembl: ENSG00000128298

Protein

• UniProt ID: Q6UXY1
• Protein name: BAR/IMD domain-containing adapter protein 2-like 2 (Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2) (BAI1-associated protein 2-like protein 2) (Planar intestinal- and kidney-specific BAR domain protein) (Pinkbar)
• Protein 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 pr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08397	IMD	16 → 226	IRSp53/MIM homology domain	Family
  PF14604	SH3_9	331 → 383	Variant SH3 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the epithelial layer of the intestine (at protein level). {ECO:0000269|PubMed:21743456}.
• Sequence:

  MAPEMDQFYRSTMAIYKSIMEQFNPALENLVYLGNNYLRAFHALSEAAEVYFSAIQKIGE
  RALQSPTSQILGEILVQMSDTQRHLNSDLEVVVQTFHGGLLQHMEKNTKLDMQFIKDSRQ
  HYELEYRHRAANLEKCMSELWRMERKRDKNVREMKESVNRLHAQMQAFVSESQRAAELEE
  KRRYRFLAEKHLLLSNTFLQFFGRARGMLQNRVLLWKEQSEASRSPSRAHSPGLLGPALG
  PPYPSGRLTPTCLDMPPRPLGEFSSPRSRHGSGSYGTEPDARPASQLEPDRRSLPRTPSA
  SSLYSGSAQSSRSNSFGERPGGGGGARRVRALVSHSEGANHTLLRFSAGDVVEVLVPEAQ
  NGWLYGKLEGSSASGWFPEAYVKALEEGPVNPMTPVTPMTSMTSMSPMTPMNPGNELPSR
  SYPLRGSHSLDDLLDRPGNSIAPSEYWDGQSRSRTPSRVPSRAPSPAPPPLPSSRRSSMG
  STAVATDVKKLMSSEQYPPQELFPRGTNPFATVKLRPTITNDRSAPLIR

• Sequence length: 529

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37248248	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30483805		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	35248088	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	35248088	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32570120	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30483805		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30483805		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34922489	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32570120	Stimulate	★☆☆☆☆ Found in Text Mining only