Aliases for APPBP2 Gene
Aliases for APPBP2 Gene
External Ids for APPBP2 Gene
- HGNC: 622
- Entrez Gene: 10513
- Ensembl: ENSG00000062725
- OMIM: 605324
- UniProtKB: Q92624
Previous GeneCards Identifiers for APPBP2 Gene
- GC17M058257
- GC17M060971
- GC17M058862
- GC17M058994
- GC17M055875
- GC17M058520
- GC17M053891
Summaries for APPBP2 Gene
-
The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
GeneCards Summary for APPBP2 Gene
APPBP2 (Amyloid Beta Precursor Protein Binding Protein 2) is a Protein Coding gene. Among its related pathways are Regulation of Androgen receptor activity. GO annotations related to this gene include microtubule motor activity.
UniProtKB/Swiss-Prot for APPBP2 Gene
-
May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APPBP2 Gene
Genomics for APPBP2 Gene
Regulatory Elements for APPBP2 Gene
Enhancers for APPBP2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around APPBP2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for APPBP2 Gene
- Chromosome:
- 17
- Start:
- 60,443,149 bp from pter
- End:
- 60,526,240 bp from pter
- Size:
- 83,092 bases
- Orientation:
- Minus strand
Genomic View for APPBP2 Gene
Genes around APPBP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q23.2 by Ensembl
- 17q23.2 by Entrez Gene
- 17q23.2 by HGNC
APPBP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for APPBP2 Gene
Proteins for APPBP2 Gene
-
Protein details for APPBP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92624-APBP2_HUMAN
- Recommended name:
- Amyloid protein-binding protein 2
- Protein Accession:
- Q92624
- A8K862
- O95095
- Q8WVC9
Protein attributes for APPBP2 Gene
- Size:
- 585 amino acids
- Molecular mass:
- 66853 Da
- Quaternary structure:
-
- Binds APP.
- SequenceCaution:
-
- Sequence=BAA13217.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for APPBP2 Gene
Post-translational modifications for APPBP2 Gene
- Rapidly degraded by the proteasome upon overexpression of a C-terminal fragment of APP.
- Ubiquitination at posLast=379379, Lys430, and Lys522
- Modification sites at PhosphoSitePlus
Other Protein References for APPBP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for APPBP2
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- antibodies-online Antibodies for APPBP2: See all 97
- GeneTex APPBP2 antibody for APPBP2
-
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-
Santa Cruz Biotechnology (SCBT) Antibodies for APPBP2
Protein Products
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- antibodies-online Proteins for APPBP2: See all 7
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Assay Products
- antibodies-online Kits for APPBP2: See all 10
No data available for DME Specific Peptides for APPBP2 Gene
Domains & Families for APPBP2 Gene
Protein Domains for APPBP2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for APPBP2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for APPBP2 Gene
Function for APPBP2 Gene
Molecular function for APPBP2 Gene
- GENATLAS Biochemistry:
- amyloid beta precursor protein binding protein 2, cytoplasmic,also associating with membranes cofractionating with APP vesicle,interacting with microtubule,binding the basolateral sorting signal in the cytoplasmic tail of APP
- UniProtKB/Swiss-Prot Function:
- May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003777 | microtubule motor activity | TAS | 9843960 |
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for APPBP2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for APPBP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APPBP2 gene
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CRISPR Products
-
OriGene CRISPR knockouts for APPBP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for APPBP2
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miRNA for APPBP2 Gene
- miRTarBase miRNAs that target APPBP2
-
- hsa-mir-148a-3p (MIRT048025)
- hsa-mir-4452 (MIRT481710)
- hsa-mir-670-5p (MIRT481711)
- hsa-mir-513a-5p (MIRT481712)
- hsa-mir-2052 (MIRT481713)
- hsa-mir-6128 (MIRT481714)
- hsa-mir-6791-5p (MIRT481715)
- hsa-mir-4308 (MIRT481716)
- hsa-mir-4292 (MIRT481717)
- hsa-mir-3681-3p (MIRT481718)
- hsa-mir-3938 (MIRT481719)
- hsa-mir-216a-3p (MIRT481720)
- hsa-mir-27b-3p (MIRT481721)
- hsa-mir-27a-3p (MIRT481722)
- hsa-mir-128-3p (MIRT481723)
- hsa-mir-144-3p (MIRT481724)
- hsa-mir-4497 (MIRT503155)
miRNA Products
- Search ViGene Biosciences for APPBP2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for APPBP2
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- VectorBuilder custom plasmid, inducible vectors for APPBP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APPBP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for APPBP2
-
ViGene Biosciences adenoviral particle packaged cDNA for APPBP2 gene
-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for APPBP2 Gene
Localization for APPBP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for APPBP2 Gene
- Nucleus. Cytoplasm, cytoskeleton. Membrane; Peripheral membrane protein. Note=Associated with membranes and microtubules.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 4 |
| cytosol | 4 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | NAS | 11742091 |
| GO:0005737 | cytoplasm | NAS,TAS | 11742091 |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005874 | microtubule | IEA | -- |
| GO:0005875 | microtubule associated complex | TAS | 9843960 |
Pathways & Interactions for APPBP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of Androgen receptor activity | ||
Pathways by source for APPBP2 Gene
1 BioSystems pathway for APPBP2 Gene
Interacting Proteins for APPBP2 Gene
Selected Interacting proteins:
ENSP00000083182
Q92624-APBP2_HUMAN
for APPBP2 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0006886 | intracellular protein transport | TAS | 9843960 |
| GO:0015031 | protein transport | IEA | -- |
| GO:0046907 | intracellular transport | IDA | 9843960 |
No data available for SIGNOR curated interactions for APPBP2 Gene
Transcripts for APPBP2 Gene
mRNA/cDNA for APPBP2 Gene
- (4) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (231) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for APPBP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for APPBP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for APPBP2
- GenScript: Design CRISPR guide RNA sequences for APPBP2
miRNA Products
- Search ViGene Biosciences for APPBP2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for APPBP2
- Browse OriGene Inhibitory RNA Products For APPBP2
-
ViGene Biosciences ready-to-package AAV shRNAs for APPBP2 gene
Clone Products
-
OriGene ORF clones in human for APPBP2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for APPBP2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for APPBP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APPBP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for APPBP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Plasma (66.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APPBP2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of APPBP2 Gene:
APPBP2SOURCE GeneReport for Unigene cluster for APPBP2 Gene:
Hs.84084Evidence on tissue expression from TISSUES for APPBP2 Gene
- Bone marrow(4.1)
- Skin(4.1)
- Nervous system(3.4)
Primer Products
-
OriGene qPCR primer pairs for APPBP2
-
OriGene qPCR primer pairs and template standards for APPBP2
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for APPBP2 Gene
Orthologs for APPBP2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | APPBP2 35 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | APPBP2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | APPBP2 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | APPBP2 35 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | APPBP2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Appbp2 35 16 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Appbp2 34 |
|
||
| chicken (Gallus gallus) |
Aves | APPBP2 35 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | APPBP2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | appbp2 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.23796 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | appbp2 35 34 |
|
OneToOne | |
| wufb78e11 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Pat1 35 34 |
|
OneToOne | |
| CG10695 36 |
|
|
- Species where no ortholog for APPBP2 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)
Paralogs for APPBP2 Gene
No data available for Paralogs for APPBP2 Gene
Variants for APPBP2 Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000020925 | -- | 60,448,250(+) | CTAGC(C/T)TGGCC | intron-variant | |
| rs1000024257 | -- | 60,525,412(+) | AAAGT(A/C)CAGCT | intron-variant | |
| rs1000045174 | -- | 60,520,888(+) | AAGAA(C/T)ACAGC | intron-variant | |
| rs1000113743 | -- | 60,468,957(+) | TGAAC(A/T)TGACT | intron-variant, upstream-variant-2KB | |
| rs1000169509 | -- | 60,445,468(+) | GGAAA(C/T)ATGTT | utr-variant-3-prime |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3273n100 | CNV | gain | 25217958 |
| esv1010187 | CNV | insertion | 20482838 |
| esv2671823 | CNV | deletion | 23128226 |
| esv2677176 | CNV | deletion | 23128226 |
| esv29677 | CNV | loss | 19812545 |
| esv3640926 | CNV | gain | 21293372 |
| esv3640927 | CNV | loss | 21293372 |
| nsv1116229 | CNV | deletion | 24896259 |
| nsv474695 | CNV | novel sequence insertion | 20440878 |
| nsv575827 | CNV | loss | 21841781 |
| nsv828080 | CNV | loss | 20364138 |
Residual Variation Intolerance Score:
21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.50;
77.62% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for APPBP2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- APPBP2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APPBP2 Gene
Disorders for APPBP2 Gene
Relevant External Links for APPBP2
No disorders were found for APPBP2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for APPBP2 Gene
Publications for APPBP2 Gene
- PAT1, a microtubule-interacting protein, recognizes the basolateral sorting signal of amyloid precursor protein. (PMID: 9843960) Zheng P. … Pimplikar S.W. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 22 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- The gamma -secretase-cleaved C-terminal fragment of amyloid precursor protein mediates signaling to the nucleus. (PMID: 11742091) Gao Y. … Pimplikar S.W. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 64
- Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 3 4 64
- Amyloid-I^ precursor protein facilitates the regulator of calcineurin 1-mediated apoptosis by downregulating proteasome subunit I+ type-5 and proteasome subunit I^ type-7. (PMID: 25194880) Wu Y. … Song W. (Neurobiol. Aging 2015) 3 64
Products for APPBP2 Gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for APPBP2
- VectorBuilder custom plasmid, inducible vectors for APPBP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APPBP2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for APPBP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer