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

SORL1 Gene

protein-coding   GIFtS: 61
GCID: GC11P121356

Sortilin-Related Receptor, L(DLR Class) A Repeats Containing

(Previous names: chromosome 11 open reading frame 32, sortilin-related receptor,...)
(Previous symbol: C11orf32)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sortilin-Related Receptor, L(DLR Class) A Repeats Containing1 2     SORLA2 5
C11orf321 2 3     Chromosome 11 Open Reading Frame 321
LR112 3 5     LRP92
Sortilin-Related Receptor, L(DLR Class) A Repeats-Containing1 2     gp2502
Low-Density Lipoprotein Receptor Relative With 11 Ligand-Binding Repeats2 3     Mosaic Protein LR112
Sorting Protein-Related Receptor Containing LDLR Class A Repeats2 3     Sortilin-Related Receptor2
SorLA-12 3     SorLA3
LDLR Relative With 11 Ligand-Binding Repeats2 3     

External Ids:    HGNC: 111851   Entrez Gene: 66532   Ensembl: ENSG000001376427   OMIM: 6020055   UniProtKB: Q926733   

Export aliases for SORL1 gene to outside databases

Previous GC identifers: GC11P123323 GC11P122835 GC11P120860 GC11P120828 GC11P117266


(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 SORL1 Gene:
This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10)
domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein
also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded protein is
translated as a preproprotein and likely plays roles in endocytosis and sorting. There may be an association
between expression of this locus and Alzheimer's Disease.(provided by RefSeq, Sep 2010)

GeneCards Summary for SORL1 Gene: 
SORL1 (sortilin-related receptor, L(DLR class) A repeats containing) is a protein-coding gene. Diseases associated with SORL1 include alzheimer disease, pathogenesis, association with, and alzheimer's disease. GO annotations related to this gene include low-density lipoprotein particle binding and transmembrane signaling receptor activity. An important paralog of this gene is SORCS3.

UniProtKB/Swiss-Prot: SORL_HUMAN, Q92673
Function: Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins
and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells
by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cell interaction




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SORL1 gene promoter:
         COUP-TF1   GATA-3   COUP   CUTL1   HNF-4alpha2   HNF-4alpha1   COUP-TF   POU2F1   POU2F1a   HSF2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSORL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SORL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SORL1


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

Entrez Gene cytogenetic band: 11q23.2-q24.2   Ensembl cytogenetic band:  11q24.1   HGNC cytogenetic band: 11q23.2-q24.4

SORL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SORL1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P121356:  view genomic region     (about GC identifiers)

Start:
121,322,912 bp from pter      End:
121,504,471 bp from pter
Size:
181,560 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SORL_HUMAN, Q92673 (See protein sequence)
Recommended Name: Sortilin-related receptor precursor  
Size: 2214 amino acids; 248426 Da
Subunit: Interacts with GGA1 and ROCK2
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Miscellaneous: Genetic variations in SORL1 may be associated with increased risk for late onset Alzheimer disease
in some populations
3 PDB 3D structures from and Proteopedia for SORL1:
2DM4 (3D)        3G2S (3D)        3G2T (3D)    
Secondary accessions: B2RNX7 Q92856

Explore the universe of human proteins at neXtProt for SORL1: NX_Q92673

Explore proteomics data for SORL1 at MOPED 

Post-translational modifications:

  • UniProtKB: The propeptide removed in the N-terminus may be cleaved by furin or homologous proteases
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92673

  • SORL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SORL1 Protein Expression
    REFSEQ proteins: NP_003096.1  
    ENSEMBL proteins: 
     ENSP00000260197   ENSP00000434634   ENSP00000432131   ENSP00000436447   ENSP00000435405  

    Human Recombinant Protein Products for SORL1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SORL1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA14764453
    GO:0005768endosome IDA16174740
    GO:0005794Golgi apparatus IDA16174740
    GO:0005887integral to plasma membrane TAS9157966
    GO:0016020membrane IDA14764453

    SORL1 for ontologies           About GeneDecksing



    SORL1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing

    5/8 InterPro protein domains (see all 8):
     IPR002172 LDrepeatLR_classA_rpt
     IPR000033 LDLR_classB_rpt
     IPR013783 Ig-like_fold
     IPR023415 LDLR_class-A_CS
     IPR000742 EG-like_dom

    Graphical View of Domain Structure for InterPro Entry Q92673

    ProtoNet protein and cluster: Q92673

    5 Blocks protein domains:
    IPB000033 Low-density lipoprotein receptor
    IPB002172 Low density lipoprotein-receptor
    IPB003962 Fibronectin type III repeat signature
    IPB006210 Type I EGF
    IPB006581 VPS10


    UniProtKB/Swiss-Prot: SORL_HUMAN, Q92673
    Similarity: Belongs to the VPS10-related sortilin family. SORL1 subfamily
    Similarity: Contains 5 BNR repeats
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 6 fibronectin type-III domains
    Similarity: Contains 11 LDL-receptor class A domains
    Similarity: Contains 5 LDL-receptor class B repeats


    SORL1 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SORL_HUMAN, Q92673
    Function: Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins
    and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells
    by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cell interaction

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity TAS9157966
    GO:0005515protein binding IPI14764453
    GO:0030169low-density lipoprotein particle binding IPI17326667
         
    SORL1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sorl1):
     cardiovascular system  homeostasis/metabolism  muscle  nervous system  other 

    SORL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SORL1: Sorl1tm1Bujo Sorl1tm1Tew

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SORL1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SORL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SORL1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SORL1


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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SORL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/11 Interacting proteins for SORL1 (Q926732, 3 ENSP000002601974) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GGA1Q9UJY52, 3, ENSP000003413444MINT-19063 MINT-19062 I2D: score=3 STRING: ENSP00000341344
    GGA2Q9UJY42, 3, ENSP000003119624MINT-18468 MINT-18467 I2D: score=5 STRING: ENSP00000311962
    FURINP099583, ENSP000002681714I2D: score=2 STRING: ENSP00000268171
    LRPAP1P305333I2D: score=3 
    AMBRA1Q9C0C73I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006605protein targeting IMP16174740
    GO:0006869lipid transport IEA--
    GO:0006898receptor-mediated endocytosis TAS9157966
    GO:0008203cholesterol metabolic process IEA--
    GO:0008219cell death IEA--

    SORL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SORL1 (SORL)

    Search CenterWatch for drugs/clinical trials and news about SORL1 / SORL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SORL1 gene: 
    NM_003105.5  

    Unigene Cluster for SORL1:

    Sortilin-related receptor, L(DLR class) A repeats containing
    Hs.368592  [show with all ESTs]
    Unigene Representative Sequence: NM_003105
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260197(uc001pxx.3 uc010rzp.1 uc010rzq.1) ENST00000532451
    ENST00000529445 ENST00000524873 ENST00000525532 ENST00000532694 ENST00000534286
    ENST00000527934 ENST00000528339 ENST00000534754 ENST00000524633 ENST00000527649
    ENST00000530365

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    8/110 QIAGEN miScript miRNA Assays for microRNAs that regulate SORL1 (see all 110):
    hsa-miR-3130-5p hsa-miR-300 hsa-miR-106a hsa-miR-128 hsa-miR-3074-3p hsa-miR-342-3p hsa-miR-519a hsa-miR-550a*
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK025583.1 AK096577.1 AK294404.1 AK295090.1 AK295878.1 AK302589.1 AK309523.1 AK316340.1 
    BC032903.1 BC040643.1 BC137171.1 U90916.1 Y08110.1 

    18 DOTS entries:

    DT.95281400  DT.448402  DT.120698385  DT.95292130  DT.100653151  DT.203374  DT.116365  DT.99929646 
    DT.116364  DT.86850337  DT.91803724  DT.95261263  DT.95348862  DT.96086283  DT.102826206  DT.433650 
    DT.75133869  DT.95370897 

    24/370 AceView cDNA sequences (see all 370):

    AW629228 AI621324 AI457832 AA524149 BU429660 BF594238 CB132577 BX115748 
    AV651475 AA730074 BM053024 CB164112 AV652701 BG291539 T15980 BM503493 
    Y08110 BM929865 AI359183 AV651476 AA480284 BQ072808 AI358248 AA704404 

    GeneLoc Exon Structure


    (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

    SORL1 expression in normal human tissues (normalized intensities)      SORL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGCTGGAG
    SORL1 Expression
    About this image


    SORL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Peripheral blood Pan-T Cells   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Line H9 (WA09)
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Cord Blood Pan-T Cells   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/forebrain/diencephalon   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Sertoli cells Seminiferous Tubules

    See SORL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SORL1

    SOURCE GeneReport for Unigene cluster: Hs.368592

    UniProtKB/Swiss-Prot: SORL_HUMAN, Q92673
    Tissue specificity: Expressed mainly in brain, where it is most abundant in the cerebellum, cerebral cortex and
    the occipital pole; low expression in the putamen and the thalamus. According to PubMed:9157966, found in spinal
    cord, testis, liver, kidney and pancreas with detectable levels in placenta, lung and heart. According to
    PubMed:8940146, expressed in the prostate, ovary, thyroid and spleen, but not found in kidney, liver, lung,
    skeletal muscle, bone marrow and adrenals

        SABiosciences Expression via Pathway-Focused PCR Array including SORL1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SORL1

    (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 SORL1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sorl11 , 5 sortilin-related receptor, LDLR class A repeats-containing1, 5 87.59(n)1
    93.32(a)1
      9 (23.55 cM)5
    206601  NM_011436.31  NP_035566.21 
     419647205 
    chicken
    (Gallus gallus)
    Aves SORL11 sortilin-related receptor, L(DLR class) A repeats containing 75.79(n)
    79.84(a)
      395998  XM_001232945.2  XP_001232946.2 
    lizard
    (Anolis carolinensis)
    Reptilia SORL16
    Uncharacterized protein
    76(a)
    1 ↔ 1
    LGa(2327294-2393713)
    zebrafish
    (Danio rerio)
    Actinopterygii im:71359571 im:7135957 65.33(n)
    65.56(a)
      497306  XM_003200038.1  XP_003200086.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LRP16
    LDL receptor protein 1
    6(a)
    1 ↔ 1
    2R(4061670-4113943)
    worm
    (Caenorhabditis elegans)
    Secernentea R01H2.33   -- 29(a)
    (best of 2)
      III(7130392-7132330)   --


    ENSEMBL Gene Tree for SORL1 (if available)
    TreeFam Gene Tree for SORL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SORL1 gene
    SORCS32  SORCS12  SORCS22  SORT12  
    4 SIMAP similar genes for SORL1 using alignment to 6 protein entries:     SORL_HUMAN (see all proteins):
    SORCS3    LRP5L    VLDLR    CD320

    SORL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/3820 SNPs in SORL1 are shown (see all 3820)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363734
    A colorectal cancer sample4--see VAR_0363732 L V mis40--------
    VAR_0363714
    A breast cancer sample4--see VAR_0363712 L S mis40--------
    VAR_0363724
    A breast cancer sample4--see VAR_0363722 M L mis40--------
    VAR_0345084
    ----see VAR_0345082 Q E mis40--------
    VAR_0345094
    ----see VAR_0345092 V I mis40--------
    rs769663131,2
    C--117329882(+) AAGAT-/AAGGGG 1 -- int10--------
    rs1476323531,2
    C--117351132(+) ATATC-/TCTTTT 1 -- int10--------
    rs1383945201,2
    C--117355767(+) TTTTT-/TGTTTTT 1 -- int10--------
    rs1129099031,2
    F--117361902(+) TTTTTC/TCATGA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1484369321,2
    C--117364231(+) TCTTA-/GAATTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SORL1 (121322912 - 121504471 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for SORL1 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2677977CNV Deletion23128226
    esv2674399CNV Deletion23128226
    esv2566564CNV Deletion19546169
    esv2665043CNV Deletion23128226
    esv2745152CNV Deletion23290073
    esv1624966CNV Insertion17803354
    nsv526CNV Insertion18451855
    nsv512242CNV Loss21212237
    nsv522474CNV Loss19592680
    esv24898CNV Loss19812545


    Human Gene Mutation Database (HGMD): SORL1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SORL1
    DNA2.0 Custom Variant and Variant Library Synthesis for SORL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602005   
    OMIM disorders: 104300  
    16 diseases for SORL1:    About MalaCards
    alzheimer disease, pathogenesis, association with    alzheimer's disease    frontotemporal dementia    amyloidosis
    mantle cell lymphoma    dementia    atherosclerosis    down syndrome
    acute leukemia    parkinson's disease    hypertension    cerebritis
    thyroiditis    neuronitis    leukemia    prostatitis

    1 disease from the University of Copenhagen DISEASES database for SORL1:
    Alzheimer's disease

    SORL1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred disease relationships for SORL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 66.9 25 19889229 (2), 19584446 (2), 19822782 (2), 18685254 (2) (see all 17)
    senile plaques 48.2 2 19364929 (1), 16174740 (1)
    neurodegenerative diseases 45.2 1 16407538 (1)
    atherosclerosis 23.5 4 11425040 (2), 11557679 (1), 19661140 (1)
    atherosclerotic plaque 20.6 1 11557679 (1)

    Genetic Association Database (GAD): SORL1
    Human Genome Epidemiology (HuGE) Navigator: SORL1 (38 documents)

    Export disorders for SORL1 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 SORL1 gene, integrated from 9 sources (see all 127):
    (articles sorted by number of sources associating them with SORL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of a novel human hybrid-type receptor that binds the alpha2-macroglobulin receptor-associated protein. (PubMed id 8940146)1, 2, 3, 9 Jacobsen L.... Petersen C.M. (1996)
    2. A novel mosaic protein containing LDL receptor elements is highly conserved in humans and chickens. (PubMed id 9157966)1, 2, 3, 9 Morwald S.... Saito Y. (1997)
    3. No association of SORL1 SNPs with Alzheimer's disease. (PubMed id 18562096)1, 2, 4 Minster R.L.... Kamboh M.I. (2008)
    4. SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population. (PubMed id 18407551)1, 2, 4 Bettens K....Sleegers K. (2008)
    5. Expression of SORL1 and a novel SORL1 splice variant in normal and Alzheimers disease brain. (PubMed id 19889229)1, 4, 9 Grear K.E....Estus S. (2009)
    6. Implication of sex and SORL1 variants in italian pati ents with Alzheimer disease. (PubMed id 19822782)1, 4, 9 Cellini E....Nacmias B. (2009)
    7. Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease. (PubMed id 19064752)1, 4, 9 T Cuenco K....Farrer L.A. (2008)
    8. Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome. (PubMed id 17826910)1, 4, 9 Lee J.H....Schupf N. (2007)
    9. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. (PubMed id 17220890)1, 4, 9 Rogaeva E....St George-Hyslop P. (2007)
    10. A study of the SORL1 gene in Alzheimer's disease and cognitive function. (PubMed id 19584446)1, 4, 9 Liu F....van Duijn C.M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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: 6653 HGNC: 11185 AceView: SORL1 Ensembl:ENSG00000137642 euGenes: HUgn6653
    ECgene: SORL1 H-InvDB: SORL1

    (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
    NameDescription
    PharmGKB entry for SORL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SORL1 gene:
    Search GeneIP for patents involving SORL1

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



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