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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BAIAP2 Gene

protein-coding GIFtS: 66
GCID: GC17P079008

BAI1-associated protein 2

Explore 11 diseases affiliated with
BAIAP2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
BAI1-Associated Protein 2¹ ² ³		IRSp53/58² ³
BAP2¹ ²		IRSP53² ⁵
Fas Ligand-Associated Factor 3² ³		Brain-Specific Angiogenesis Inhibitor 1-Associated Protein 2²
Insulin Receptor Substrate P53/P58² ³		IRSp53³
Insulin Receptor Substrate Protein Of 53 KDa² ³		BAI-Associated Protein 2³
FLAF3² ³		Insulin Receptor Substrate P53³
IRS-58² ³		Protein BAP2³

External Ids:	HGNC: 947¹	Entrez Gene: 10458²	Ensembl: ENSG00000175866⁷	OMIM: 605475⁵	UniProtKB: Q9UQB8³

Export aliases for BAIAP2 gene to outside databases

Previous GC identifers: GC17U990151 GC17P082371 GC17P079571 GC17P079709 GC17P076623 GC17P074448

(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 BAIAP2:

The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein.

This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an

insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also

associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers

and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect

neuronal growth-cone guidance. This protein has also been identified as interacting with the

dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease.

Alternative splicing results in multiple transcript variants encoding distinct isoforms.(provided by RefSeq, Jan 2009)

UniProtKB/Swiss-Prot: BAIP2_HUMAN, Q9UQB8

Function: Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for

CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the

regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth.

Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin

cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting

filopodial protrusions

Gene Wiki entry for BAIAP2

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BAIAP2 gene promoter:
AML1a Tal-1 SREBP-1c Nkx2-5 LCR-F1 E47 Evi-1 SREBP-1b SREBP-1a Cart-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BAIAP2 promoter sequence

Search SABiosciences Chromatin IP Primers for BAIAP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAIAP2

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

Entrez Gene cytogenetic band: 17q25 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25

BAIAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAIAP2 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P079008: view genomic region (about GC identifiers)

Start:	79,008,947 bp from pter	End:	79,091,232 bp from pter
Size:	82,286 bases	Orientation:	plus strand

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

UniProtKB/Swiss-Prot: BAIP2_HUMAN, Q9UQB8 (See protein sequence)

Recommended Name: Brain-specific angiogenesis inhibitor 1-associated protein 2

Size: 552 amino acids; 60868 Da

Subunit: Homodimer. Interacts with CDC42 and RAC1 that have been activated by GTP binding. Interacts with ATN1, BAI1,

EPS8, SHANK1, SHANK2, SHANK3, WASF1 and WASF2. Interacts with ENAH after recruitment of CDC42. Interacts with TIAM1

and DIAPH1 (By similarity). Interacts (via SH3 domain) with E.coli effector protein EspF(U) (via PXXP motifs).

Interacts with E.coli intimin receptor Tir

Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection,

ruffle. Cytoplasm, cytoskeleton. Note=Detected throughout the cytoplasm in the absence of specific binding partners.

Detected in filopodia and close to membrane ruffles. Recruited to actin pedestals that are formed upon infection by

bacteria at bacterial attachment sites

Caution: It is uncertain whether Met-1 or Met-59 is the initiator

4 PDB 3D structures from and Proteopedia for BAIAP2:

1WDZ (3D)

1Y2O (3D)

2YKT (3D)

3RNJ (3D)

Secondary accessions: O43858 Q53HB1 Q86WC1 Q8N5C0 Q96CR7 Q9UBR3 Q9UQ43

Alternative splicing: 6 isoforms: Q9UQB8-1 Q9UQB8-2 Q9UQB8-3 Q9UQB8-4 Q9UQB8-5 Q9UQB8-6

Explore the universe of human proteins at neXtProt for BAIAP2: NX_Q9UQB8

Post-translational modifications:

Phosphorylated on tyrosine residues by INSR in response to insulin treatment¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UQB8

BAIAP2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001138360.1 NP_006331.1 NP_059344.1 NP_059345.1

ENSEMBL proteins:

ENSP00000460344 ENSP00000458494 ENSP00000315685 ENSP00000460492 ENSP00000401022

ENSP00000458964 ENSP00000461144 ENSP00000413069 ENSP00000316338 ENSP00000458202

ENSP00000460131 ENSP00000458522 ENSP00000461736 ENSP00000459787 ENSP00000458735

ENSP00000459730 ENSP00000461101 ENSP00000458440 ENSP00000391837 ENSP00000460350

ENSP00000376211

Reactome Protein details: Q9UQB8
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): BAIAP2 OriGene Protein Over-expression Lysate (see all 4): BAIAP2 OriGene Custom Protein Services for BAIAP2
	GenScript Custom Purified and Recombinant Proteins Services for BAIAP2
	Novus Biologicals BAIAP2 Proteins Novus Biologicals BAIAP2 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for BAIAP2
	Uscn Proteins for BAIAP2

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001726	ruffle	IEA	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	IDA	19366662

BAIAP2 for ontologies About GeneDecksing

BAIAP2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of BAIAP2
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	OriGene Antibodies (see all 7): BAIAP2 OriGene Custom Antibody Services for BAIAP2
	GenScript Superior Antibodies for BAIAP2
	Novus Biologicals BAIAP2 Antibodies
	Abcam antibodies for BAIAP2
	Uscn Antibodies for BAIAP2
	ThermoFisher Antibodies for BAIAP2

Assay Products for BAIAP2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for BAIAP2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BAIAP2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BAIAP2 for domains About GeneDecksing

3 InterPro domains/families:

IPR011511 SH3_2

IPR001452 SH3_domain

IPR013606 IRSp53/MIM_homology_IMD

Graphical View of Domain Structure for InterPro Entry Q9UQB8

ProtoNet protein and cluster: Q9UQB8

3 Blocks protein families:

IPB001452 SH3 domain signature

IPB011511 Variant SH3

IPB013606 IRSp53/MIM homology domain

UniProtKB/Swiss-Prot: BAIP2_HUMAN, Q9UQB8

Domain: The IMD domain forms a coiled coil. The isolated domain can induce actin bundling and filopodia formation. In

the absence of G-proteins intramolecular interaction between the IMD and the SH3 domain gives rise to an

auto-inhibited state of the protein. Interaction of the IMD with RAC1 or CDC42 leads to activation

Domain: The SH3 domain interacts with ATN1, BAI1, WASF1, WASF2, SHANK1, DIAPH1 and ENAH

Similarity: Contains 1 IMD (IRSp53/MIM homology) domain

Similarity: Contains 1 SH3 domain

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

Function Summary:

UniProtKB/Swiss-Prot: BAIP2_HUMAN, Q9UQB8

Function: Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for

CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the

regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth.

Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin

cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting

filopodial protrusions

Genatlas biochemistry entry for BAIAP2:

brain specific angiogenesis (BAI1) inhibitor-associated protein 2,expressed in neurons,with two isoforms,long expressed

in brain,short in other tissue,MAGUK (membrane-associted guanylase kinase homolog) family,homolog of hamster IRSP53

miRNA Products:		OriGene 3'-UTR Clone (see all 4): BAIAP2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BAIAP2
		8/50 QIAGEN miScript miRNA Assays for microRNAs that regulate BAIAP2 (see all 50):
		hsa-miR-4272 hsa-miR-513a-5p hsa-miR-15a hsa-miR-485-3p hsa-miR-29a hsa-miR-3167 hsa-miR-1304 hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: BAIAP2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BAIAP2 (see all 7) OriGene shRNA RFP: BAIAP2 OriGene siRNA: BAIAP2
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAIAP2

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	19171758
GO:0008022	protein C-terminus binding	TAS	10343108
GO:0008093	cytoskeletal adaptor activity	IEA	--
GO:0017124	SH3 domain binding	IEA	--
GO:0042802	identical protein binding	IPI	14752106

BAIAP2 for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for BAIAP2:

Decreased influenza A/WSN/33 r

Increased cell number in G2M,

Upregulation of Wnt/beta-caten

Wnt reporter downregulated

Animal Models:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Baiap2):

behavior/neurological

mortality/aging

nervous system

BAIAP2 for phenotypes About GeneDecksing

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

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

G-protein signaling_RAC1 in cellular process

	G-protein signaling RAC1 in cellular process	1.00			RAC1 signaling pathway	0.34
	G-protein signaling_RAC1 in cellular process	1.00			CDC42 signaling events	0.17

Regulation of actin dynamics for phagocytic cup formation

	Regulation of actin dynamics for phagocytic cup formation	1.00			Fcgamma receptor (FCGR) dependent phagocytosis	0.80
	Role of myosins in phagosome formation	0.80			Branching and elongation of mother and daughter filaments	0.29

Actin Nucleation by ARP-WASP Complex

	Actin Nucleation by ARP-WASP Complex	1.00			CDC42 Pathway	0.34
	RhoA Pathway	0.35

Immune System

Immune System

1.00

Innate Immune System

0.46

Regulation of Actin Cytoskeleton

Regulation of Actin Cytoskeleton

1.00

Regulation of actin cytoskeleton

0.58

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for BAIAP2

G-protein signaling RAC1 in cellular process

5/8 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BAIAP2 (see all 8)

	RhoA Pathway
	Actin-Based Motility by Rho Family GTPases
	CDC42 Pathway
	Actin Nucleation by ARP-WASP Complex
	Epithelial Adherens Junctions

1 GeneGo (Thomson Reuters) Pathway for BAIAP2

G-protein signaling RAC1 in cellular process

4 BioSystems Pathways for BAIAP2

	Regulation of Actin Cytoskeleton
	ErbB1 downstream signaling
	CDC42 signaling events
	RAC1 signaling pathway

5/6 Reactome Pathways for BAIAP2 (see all 6)

	Role of myosins in phagosome formation
	Branching and elongation of mother and daughter filaments
	Regulation of actin dynamics for phagocytic cup formation
	Fcgamma receptor (FCGR) dependent phagocytosis
	Immune System

2 Kegg Pathways (Kegg details for BAIAP2):

	Adherens junction
	Regulation of actin cytoskeleton

BAIAP2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BAIAP2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/63 Interacting proteins for BAIAP2 (Q9UQB8^{1, 2, 3} ENSP00000316338⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 63)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EPS8	Q12929¹^,²^,³, ENSP00000281172⁴	EBI-525456,EBI-375576 MINT-68438 MINT-7384642 MINT-7384705 I2D: score=7 STRING: ENSP00000281172
ATN1	P54259²^,³, ENSP00000349076⁴	MINT-2868323 MINT-50907 MINT-50909 I2D: score=6 STRING: ENSP00000349076
PBX2	P40425²^,³, ENSP00000364190⁴	MINT-62572 MINT-62670 MINT-62746 I2D: score=4 STRING: ENSP00000364190
NCKIPSD	Q9NZQ3²^,³, ENSP00000294129⁴	MINT-7219383 I2D: score=6 STRING: ENSP00000294129
YWHAG	P61981²^,³, ENSP00000306330⁴	MINT-50877 I2D: score=4 STRING: ENSP00000306330

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	--	--
GO:0007409	axonogenesis	TAS	10343108
GO:0008286	insulin receptor signaling pathway	TAS	10343108
GO:0009617	response to bacterium	IMP	19366662
GO:0016358	dendrite development	IEA	--

BAIAP2 for ontologies About GeneDecksing

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

BAIAP2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BAIAP2

1 HMDB Compound for BAIAP2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

2 Novoseek chemical compound relationships for BAIAP2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	45.8	21	18417251 (7), 11514062 (1), 15635447 (1), 19889090 (1) (see all 9)
glutamine	36.8	3	11514062 (1), 10222779 (1), 10332026 (1)

Search CenterWatch for drugs/clinical trials and news about BAIAP2 / BAIP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BAIAP2 gene (4 alternative transcripts):

NM_001144888.1 NM_006340.2 NM_017450.2 NM_017451.2

Unigene Cluster for BAIAP2:

BAI1-associated protein 2

Hs.128316 [show with all ESTs]

Unigene Representative Sequence: AK127291

18/31 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 31):

ENST00000576470 ENST00000575750 ENST00000570913 ENST00000575989 ENST00000321280

ENST00000572329(uc002jzb.2) ENST00000428708 ENST00000575712(uc002jyz.4 uc002jza.2 uc002jzc.2 uc010wui.2)

ENST00000575245 ENST00000435091 ENST00000321300(uc002jzg.2 uc010wuh.1 uc002jzd.2 uc002jzf.2 uc002jze.2 uc002jzh.2)

ENST00000573894 ENST00000571530 ENST00000573017 ENST00000572918 ENST00000575958

ENST00000573659 ENST00000572073

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BAIAP2

Additional cDNA sequence:

AB015019.1 AB015020.1 AB017119.1 AB017120.1 AK023688.1 AK056888.1 AK127291.1 AK222670.1

AK225612.1 AK297644.1 AK298629.1 AK301436.1 BC002495.2 BC014020.2 BC032559.1 U70669.1

24/30 DOTS entries (see all 30):

DT.100885089 DT.106708 DT.92444973 DT.100885084 DT.75168840 DT.95226934 DT.100885080 DT.443448

DT.95226944 DT.75172568 DT.120937425 DT.92444964 DT.95226962 DT.100697561 DT.40246617 DT.97759993

DT.100803282 DT.120937354 DT.95132854 DT.120937357 DT.120937385 DT.40212091 DT.442429 DT.75140322

24/341 AceView cDNA sequences (see all 341):

BG060086 BQ227723 AA349114 BI850729 CB153324 AK056888 BU187158 CB141173

BM848150 BM976464 AL545074 CB138436 CB306187 BM727399 BE252378 BC032559

AA262334 AU122109 BE778378 BQ432153 BQ428473 BQ651827 U70669 AL556018

GeneLoc Exon Structure

5/23 Alternative Splicing Database (ASD) splice patterns (SP) for BAIAP2 (see all 23) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	·	4c	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	·	14c	^	15a	·	15b	·	15c	^	16	^	17	^	18	^	19a	·
SP1:					-		-		-				-		-		-		-				-		-		-				-		-												-		-
SP2:							-		-				-		-		-		-				-		-		-				-		-				-								-		-
SP3:					-		-		-				-		-		-		-				-		-		-				-		-												-		-
SP4:					-		-		-				-		-		-		-				-		-		-				-		-												-		-
SP5:																																													-		-

ExUns:	19b	·	19c	^	20a	·	20b	^	21a	·	21b	^	22a	·	22b	^	23	^	24a	·	24b	^	25	^	26a	·	26b
SP1:													-								-
SP2:													-
SP3:													-
SP4:													-
SP5:													-								-

ECgene alternative splicing isoforms for BAIAP2

(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

BAIAP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGCCTTGGG

About this image

BAIAP2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ectoderm

Pre-placodal Lens Ectoderm Cells

Ectoderm

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BAIAP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BAIAP2

SOURCE GeneReport for Unigene cluster: Hs.128316

UniProtKB/Swiss-Prot: BAIP2_HUMAN, Q9UQB8

Tissue specificity: Isoform 1 and isoform 4 are expressed almost exclusively in brain. Isoform 4 is barely detectable

in placenta, prostate and testis. A short isoform is ubiquitous, with the highest expression in liver, prostate,

testis and placenta

SABiosciences Expression via Pathway-Focused PCR Arrays including BAIAP2:

Cytoskeleton Regulators in human mouse rat

Adherens Junctions in human mouse rat

Cell Motility in human mouse rat

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(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 BAIAP2 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BAIAP2¹	BAI1-associated protein 2	82.21(n) 87.35(a)		422077 XM_420080.3 XP_420080.3
lizard (Anolis carolinensis)	Reptilia	BAIAP2⁶	--	85(a)	1 ↔ 1	2(99519465-99575813)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.6299²	Transcribed sequence with moderate similarity to protein more	75.35(n)		BX703765.1
zebrafish (Danio rerio)	Actinopterygii	wufk29g02²	Transcribed sequence with weak similarity to protein more	76.45(n)		BI980054.1
fruit fly (Drosophila melanogaster)	Insecta	CG32082⁶	--	11(a)	1 → many	3L(11129149-11157084)

ENSEMBL Gene Tree for BAIAP2 (if available)
TreeFam Gene Tree for BAIAP2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BAIAP2 gene

BAIAP2L2² BAIAP2L1²

2 SIMAP similar genes for BAIAP2 using alignment to 17 protein entries: BAIP2_HUMAN (see all proteins):

BAIAP2L2 BAIAP2L1

BAIAP2 for paralogs About GeneDecksing

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

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs112711307^1,2	C,	--	74447118(+)	`GGGATC/GTGCCG`	4	--	us2k¹		2		WA	120
rs74910460^1,2	C,F,	--	74447251(+)	`ATCTGG/ATGTTT`	4	--	us2k¹		1		WA	118
rs113246777^1,2		--	74447436(+)	`TCCATT/CCCTCC`	4	--	us2k¹		4		CSA WA NA	241
rs12450554^1,2	C,F,H,	--	74447684(+)	`TCCAAG/AATCCT`	4	--	us2k¹		11		NS NA	1358
rs12450556^1,2	C,F,H,	--	74447712(+)	`TCCCAG/AGGTCC`	4	--	us2k¹		2		NA	124
rs56195252^1,2		--	74447948(+)	`GGCCGA/GGGGGT`	4	--	us2k¹		0	--	--	--	--
rs11653973^1,2	H	--	74448743(+)	`CCGAGA/CTGAGC`	4	--	int¹		0	--	--	--	--
rs11653978^1,2	H	--	74448772(+)	`GGTcgC/Tgcgcc`	4	--	int¹		0	--	--	--	--
rs28666997^1,2		--	74448994(+)	`GGAGCA/CCTCCC`	4	--	int¹		0	--	--	--	--
rs72851872^1,2	C,F,	--	74449585(+)	`TCAGCA/GTCCGT`	4	--	int¹		2		WA NA	238

HapMap Linkage Disequilibrium report for BAIAP2 (79008947 - 79091232 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for BAIAP2
6 CNVs: 73071 5883 73060 5036 30032 30031
2 Indels: 73061 73058

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BAIAP2 for disorders           About GeneDecksing

OMIM gene information: 605475    OMIM disorders: --

11 diseases for BAIAP2:    About MalaCards

dentatorubral-pallidoluysian atrophy neurodegenerative disease wiskott-aldrich syndrome intrahepatic cholangiocarcinoma

neuronitis cholangiocarcinoma neurodegeneration ataxia

cerebritis pancreatitis prostatitis

1 disease from the University of Copenhagen DISEASES database for BAIAP2:

dentatorubral-pallidoluysian atrophy

3 Novoseek disease relationships for BAIAP2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
drpla	81.5	11	10222779 (3), 10332026 (3), 11514062 (2), 12884081 (1)
wiskott-aldrich syndrome	77.8	4	15673667 (1), 14752106 (1)
neurodegenerative diseases	12.3	1	12884081 (1)

Human Genome Epidemiology (HuGE) Navigator: BAIAP2 (1 document)

Export disorders for BAIAP2 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 BAIAP2 gene, integrated from 9 sources (see all 82):
(articles sorted by number of sources associating them with BAIAP2)

Utopia: connect your pdf to the dynamic
world of online information

Identification of BAIAP2 (BAI-associated protein 2), a novel human homologue of hamster IRSp53, whose SH3 domain interacts with the cytoplasmic domain of BAI1. (PubMed id 10343108)^{1, 2, 3, 9} Oda K.... Tokino T. (1999)
A novel actin bundling/filopodium-forming domain conserved in insulin receptor tyrosine kinase substrate p53 and missing in metastasis protein. (PubMed id 14752106)^{1, 2, 9} Yamagishi A.... Mochizuki N. (2004)
Cdc42 induces filopodia by promoting the formation of an IRSp53:Mena complex. (PubMed id 11696321)^{1, 2, 9} Krugmann S....Hall A. (2001)
IRSp53 links the enterohemorrhagic E. coli effectors Tir and EspFU for actin pedestal formation. (PubMed id 19286134)^{1, 2, 9} Weiss S.M....Stradal T.E. (2009)
Regulation of cell shape by Cdc42 is mediated by the synergic actin-bundling activity of the Eps8-IRSp53 complex. (PubMed id 17115031)^{1, 2, 9} Disanza A....Scita G. (2006)
Structural basis of filopodia formation induced by the IRSp53/MIM homology domain of human IRSp53. (PubMed id 15635447)^{1, 2, 9} Millard T.H.... Fuetterer K. (2005)
Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate. (PubMed id 10332026)^{1, 2, 9} Okamura-Oho Y.... Yamada M. (1999)
Genomic structure and alternative splicing of the insulin receptor tyrosine kinase substrate of 53-kDa protein. (PubMed id 12884081)^{1, 2, 9} Miyahara A.... Yamada M. (2003)
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)
IRSp53/Eps8 complex is important for positive regulation of Rac and cancer cell motility/invasiveness. (PubMed id 15289329)^{1, 2} Funato Y.... Miki H. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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: 10458	HGNC: 947	AceView: BAIAP2	Ensembl:ENSG00000175866	euGenes: HUgn10458
ECgene: BAIAP2	Kegg: 10458	H-InvDB: BAIAP2

(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

Name	Description
PharmGKB entry for BAIAP2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for BAIAP2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for BAIAP2 gene:
Search GeneIP for patents involving BAIAP2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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BAI1-associated protein 2

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BAI1-associated protein 2

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