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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

APH1B Gene

protein-coding   GIFtS: 55
GCID: GC15P064360

anterior pharynx defective 1 homolog B (C. elegans)
 Explore 3 diseases affiliated with
APH1B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for APH1B    

Aliases
for APH1B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Anterior Pharynx Defective 1 Homolog B (C. Elegans)1 2     Aph-1beta3
PSFL1 2 3     Gamma-Secretase Subunit APH-1B2
APH-1B1 2     APH-1b3
DKFZp564D03721     Aph-1beta3
PRO13282     Presenilin-Stabilization Factor-Like3
TAAV6882     

External Ids:    HGNC: 240801   Entrez Gene: 834642   Ensembl: ENSG000001386137   OMIM: 6076305   UniProtKB: Q8WW433   

Export aliases for APH1B gene to outside databases

Previous GC identifers: GC15P061357 GC15P063569 GC15P040392 GC15P063647


Summaries
for APH1B gene

(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 APH1B:
This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex,
which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin
holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch
receptors and beta-amyloid precursor protein. (provided by RefSeq, Sep 2011)

UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43
Function: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane
cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents
a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present
in a minority of gamma-secretase complexes compared to APH1A




Genomic Views
for APH1B gene

(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_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the APH1B gene promoter:
         AML1a   FOXF2   GATA-3   p53   IRF-1   Nkx2-5   HNF-3beta   LCR-F1   SRY   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: APH1B promoter sequence
   Search SABiosciences Chromatin IP Primers for APH1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APH1B


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

Entrez Gene cytogenetic band: 15q22.2   Ensembl cytogenetic band:  15q22.2   HGNC cytogenetic band: 15q22.2

APH1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APH1B gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P064360:  view genomic region     (about GC identifiers)

Start:
 63,568,217 bp from pter      End:
 63,601,325 bp from pter
Size:
 33,109 bases      Orientation:
 plus strand

Proteins
for APH1B gene

(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: APH1B_HUMAN, Q8WW43 (See protein sequence)
Recommended Name: Gamma-secretase subunit APH-1B  
Size: 257 amino acids; 28460 Da
Subunit: Probable component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or
PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity,
although other components may exist (By similarity). Interacts with PSEN1 and PSEN2
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: A8K589 Q564N3 Q6UWQ1 Q9H0S0
Alternative splicing: 2 isoforms:  Q8WW43-1   Q8WW43-2   (Expressed at low levels in most tissues)

Explore the universe of human proteins at neXtProt for APH1B: NX_Q8WW43

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WW43

    • APH1B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001139118.1  NP_112591.2  

    ENSEMBL proteins: 
     ENSP00000453002   ENSP00000261879   ENSP00000369700   ENSP00000369697   ENSP00000453327  
     ENSP00000453516  
    Reactome Protein details: Q8WW43
    Human Recombinant Protein Products: 
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    Uscn Proteins for APH1B

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IDA12297508
    GO:0030133transport vesicle IDA--


    APH1B for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for APH1B

    Protein Domains /
    Families
    for APH1B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    APH1B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009294 Aph-1

    Graphical View of Domain Structure for InterPro Entry Q8WW43

    ProtoNet protein and cluster: Q8WW43

    1 Blocks protein family: IPB009294 Aph-1

    UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43
    Similarity: Belongs to the APH-1 family


    Function
    for APH1B gene

    (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: APH1B_HUMAN, Q8WW43
    Function: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane
    cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents
    a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present
    in a minority of gamma-secretase complexes compared to APH1A

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APH1B
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate APH1B (see all 24):
    hsa-miR-644 hsa-miR-520d-5p hsa-miR-181c hsa-miR-340 hsa-miR-218 hsa-miR-4267 hsa-miR-374a* hsa-miR-124
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: APH1B
    OriGene siRNA: APH1B
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for APH1B

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12297508
    GO:0008233peptidase activity IDA12297508


    APH1B for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Aph1btm1Bdes for APH1B
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Aph1b):
     normal 

    APH1B for phenotypes           About GeneDecksing


    Pathways & Interactions
    for APH1B gene

    (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 - 5/19 super-pathways (see all 19) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant
    8/10 pathways (see all 10)
    		Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant1.00
    		FBXW7 Mutants and NOTCH1 in Cancer1.00
    		Signaling by NOTCH1 PEST Domain Mutants in Cancer1.00
    		Signaling by NOTCH11.00
    		Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer1.00
    		Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    		Signaling by NOTCH1 in Cancer1.00
    		Signaling by NOTCH0.77
    2NOTCH2 Activation and Transmission of Signal to the Nucleus
    		NOTCH2 Activation and Transmission of Signal to the Nucleus1.00
    		Activated NOTCH1 Transmits Signal to the Nucleus0.58
    		Signaling by NOTCH21.00
    3Development_Notch Signaling Pathway
    		Development_Notch Signaling Pathway1.00
    		Development Notch Signaling Pathway0.97
    4Cell death signalling via NRAGE, NRIF and NADE
    		Cell death signalling via NRAGE, NRIF and NADE1.00
    		p75 NTR receptor-mediated signalling0.73
    5Signaling by NOTCH3
    		Signaling by NOTCH31.00
    		Signaling by NOTCH40.83

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for APH1B
        Development Notch Signaling Pathway


    3 GeneGo (Thomson Reuters) Pathways for APH1B
        Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development Notch Signaling Pathway
    Development MAG-dependent inhibition of neurite outgrowth

    5/6 BioSystems Pathways for APH1B (see all 6) 
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    p75(NTR)-mediated signaling
    Notch signaling pathway
    Syndecan-3-mediated signaling events

    5/25        Reactome Pathways for APH1B (see all 25)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NRIF signals cell death from the nucleus
    A third proteolytic cleavage releases NICD
    FBXW7 Mutants and NOTCH1 in Cancer
    Cell death signalling via NRAGE, NRIF and NADE



    APH1B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for APH1B

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

    5/34 Interacting proteins for APH1B (Q8WW431, 3 ENSP000002618794) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSEN2P498101, 3, ENSP000003557474EBI-2606497,EBI-2010251 I2D: score=1 STRING: ENSP00000355747
    PSEN1P497683, ENSP000003263664I2D: score=1 STRING: ENSP00000326366
    NCSTNQ925423, ENSP000002947854I2D: score=1 STRING: ENSP00000294785
    ADAM10ENSP000002604084STRING: ENSP00000260408
    APH1AENSP000003581054STRING: ENSP00000358105
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0007219Notch signaling pathway TAS--
    GO:0007220Notch receptor processing TAS--
    GO:0016485protein processing IDA12297508
    GO:0031293membrane protein intracellular domain proteolysis TAS--


    APH1B for ontologies           About GeneDecksing



    Drugs & Compounds
    for APH1B gene

    (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
    EMD Millipore small molecules for APH1B:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for APH1B
    Search CenterWatch for drugs/clinical trials and news about APH1B 

    Transcripts
    for APH1B gene

    (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 APH1B gene (2 alternative transcripts): 
    NM_001145646.1  NM_031301.3  

    Unigene Cluster for APH1B:

    Anterior pharynx defective 1 homolog B (C. elegans)
    Hs.511703  [show with all ESTs]
    Unigene Representative Sequence: NM_031301
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560890 ENST00000559744 ENST00000261879(uc002ama.3 uc002amb.3 uc010bgq.3)
    ENST00000380343 ENST00000380340 ENST00000560353 ENST00000559971 ENST00000558631
    ENST00000559823 ENST00000560716

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APH1B
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate APH1B (see all 24):
    hsa-miR-644 hsa-miR-520d-5p hsa-miR-181c hsa-miR-340 hsa-miR-218 hsa-miR-4267 hsa-miR-374a* hsa-miR-124
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APH1B (see all 7)
    OriGene shRNA RFP: APH1B
    OriGene siRNA: APH1B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APH1B
    Clone
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    Additional cDNA sequence: 

    AB189172.1 AF508794.1 AK057677.1 AK291204.1 AK307456.1 AK307725.1 AK310843.1 AL136671.1 
    AY358698.1 BC020905.1 

    6 DOTS entries:

    DT.311571  DT.112952  DT.75197896  DT.95075202  DT.100842028  DT.92022917 

    24/164 AceView cDNA sequences (see all 164):

    N79565 AI143454 AA557359 AW016528 CD672791 AW628257 NM_031301 BE669936 
    CA397429 BF431379 CB157442 CA309393 CB163215 BG210489 CA431257 BX398327 
    AX776001 BM728654 BU617251 BI825203 AI279316 BU742592 AI023997 AI693802 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for APH1B (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d
    SP1:                                -                       -                 -           -                           
    SP2:        -     -     -     -     -     -                 -                 -           -                           
    SP3:                                -     -                 -                 -           -                           
    SP4:                                -     -                 -     -     -     -           -                           
    SP5:                                -     -                 -                 -     -     -                           


    ECgene alternative splicing isoforms for APH1B

    Expression
    for APH1B gene

    (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

    APH1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCACCTGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    APH1B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainCerebral CortexBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See APH1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APH1B

    SOURCE GeneReport for Unigene cluster: Hs.511703

    UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43
    Tissue specificity: Weakly or not expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen
    thymus, colon, skeletal muscle, heart and brain

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    In Situ
    Assay Products:     
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    Orthologs
    for APH1B gene

    (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 eukaryotes.

    Orthologs for APH1B gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Aph1b1 , 5 anterior pharynx defective 1b homolog (C. elegans)1, 5 86.64(n)1
    84.05(a)1    		   9 (36.12 cM)5
    2081171  NM_177583.41  NP_808251.11 
     667752025 
    chicken
    (Gallus gallus)    		 Aves APH1B6
    		 Uncharacterized protein
    		 60(a)
    		 1 ↔ 1
    		 Z(8558212-8561674)
    lizard
    (Anolis carolinensis)    		 Reptilia APH1B6
    		 --
    		 60(a)
    		 1 ↔ 1
    		 AAWZ02041254(1301-1692)
    zebrafish
    (Danio rerio)    		 Actinopterygii aph1b6
    zgc:1142006
    		 zgc:114200
    		 62(a)
    55(a)
    		 1 ↔ 1
    possible ortholog
    		 7(30513432-30523444)
    10(8368899-8386382)
    fruit fly
    (Drosophila melanogaster)    		 Insecta aph-16
    		 anterior pharynx defective 1
    		 45(a)
    		 1 → many
    		 2L(2766235-2767154)
    worm
    (Caenorhabditis elegans)    		 Secernentea aph-16
    		 Gamma-secretase subunit aph-1
    		 25(a)
    		 1 → many
    		 I(9232060-9233555)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G314406
    		 gamma-secretase subunit APH1-like protein
    		 26(a)
    		 1 → many
    		 2(13399128-13401206)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 gamma-secretase subunit APH-1B, putative, expresse...
    		 27(a)
    		 1 → many
    		 2(9902627-9907886)


    ENSEMBL Gene Tree for APH1B (if available)
    TreeFam Gene Tree for APH1B (if available) 

    Paralogs
    for APH1B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for APH1B gene
    APH1A2  
    2 SIMAP similar genes for APH1B using alignment to 4 protein entries:     APH1B_HUMAN (see all proteins):
    APH-1b    APH1A

    APH1B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for APH1B
    PGOHUM00000233455


    Genomic Variants
    for APH1B gene

    (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

    10/645 NCBI SNPs in APH1B are shown (see all 645)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1431241351,2
    		C--40418384(+) GAGTCA/TCNNNN 1 -- int10--------
    rs1507383001,2
    		--63567765(+) GAGGCC/TGAGGT 2 -- us2k10--------
    rs1870201291,2
    		--63567857(+) CCCAGC/GCATGG 2 -- us2k10--------
    rs765396021,2
    		--63568095(+) AAGCCC/GGAACC 2 -- us2k10--------
    rs1152608391,2
    		F,--63568152(+) AGCTCA/TTTAGT 2 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1917511071,2
    		--63568301(+) TTTCCA/GTATCT 2 -- us2k10--------
    rs1498745221,2
    		--63568308(+) ATCTTC/TACAAA 2 -- us2k10--------
    rs734432991,2
    		C,--63568466(+) GGTAAT/CGTTTT 2 -- us2k12Minor allele frequency- C:0.21WA 120
    rs1849664041,2
    		--63568482(+) AAGAAA/TTAAAT 2 -- us2k10--------
    rs1893629891,2
    		--63568780(+) TATAGA/GTGTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for APH1B (63568217 - 63601325 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for APH1B: --
    Human Gene Mutation Database (HGMD): APH1B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APH1B
    DNA2.0 Custom Variant and Variant Library Synthesis for APH1B

    Disorders / Diseases
    for APH1B gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    APH1B for disorders           About GeneDecksing

    OMIM gene information: 607630    OMIM disorders: --

    3 diseases for APH1B:    About MalaCards
    alzheimer's disease    atherosclerosis    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: APH1B (5 documents)

    Export disorders for APH1B gene to outside databases

    Publications
    for APH1B gene

    (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 APH1B gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with APH1B)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    2. Identification and characterization of a novel human APH-1b splice variant lacking exon 4. (PubMed id 15823552)1, 2 Saito S.... Araki W. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. (PubMed id 12740439)1, 2 Kimberly W.T....Selkoe D.J. (2003)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    7. aph-1 and pen-2 are required for Notch pathway signaling, gamma- secretase cleavage of betaAPP, and presenilin protein accumulation. (PubMed id 12110170)1, 3 Francis R....Curtis D. (2002)
    8. Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch. (PubMed id 12297508)1, 2 Lee S.-F.... Yu G. (2002)
    9. Identification of distinct gamma-secretase complexes with different APH-1 variants. (PubMed id 15286082)1, 9 Shirotani K....Steiner H. (2004)
    10. Interaction between the APOE varepsilon4 allele and the APH-1b c+651T>G SNP in Alzheimer's disease. (PubMed id 17466415)1, 9 Poli M....Finazzi D. (2007)

    External Searches for APH1B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing APH1B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83464 HGNC: 24080 AceView: PSFL Ensembl:ENSG00000138613 euGenes: HUgn83464
    ECgene: APH1B H-InvDB: APH1B

    Other Databases showing APH1B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing APH1B gene

    (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
    NameDescription
    PharmGKB entry for APH1B Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for APH1B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for APH1B gene:
    Search GeneIP for patents involving APH1B

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



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    About This Section

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