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          • › Hs06338547_cn
          See other PICALM CNV Assays ›
          Gene Symbol
          PICALM
          Assay Reference Genome
          Location

          Chr.11:85972551 on build GRCh38
          Cytoband
          11q14.2
          Assay ID Hs06338547_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          Online offer:
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          8301

          Gene Name:

          phosphatidylinositol binding clathrin assembly protein

          Gene Aliases:

          CALM, CLTH, LAP

          Location:

          Chr.11:85957171-86069881 on Build GRCh38

          Assay Gene Location:

          Within Intron 21
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PICALM NM_001008660.2 NP_001008660.1
          NM_001206946.1 NP_001193875.1
          NM_001206947.1 NP_001193876.1
          NM_007166.3 NP_009097.2
          XM_005274322.2 XP_005274379.1
          XM_005274323.2 XP_005274380.1
          XM_005274324.2 XP_005274381.1
          XM_005274325.2 XP_005274382.1
          XM_005274326.2 XP_005274383.1
          XM_005274327.2 XP_005274384.1
          XM_005274328.2 XP_005274385.1
          XM_005274329.3 XP_005274386.1
          XM_005274330.2 XP_005274387.1
          XM_005274331.2 XP_005274388.1
          XM_005274332.2 XP_005274389.1
          XM_005274333.2 XP_005274390.1
          XM_005274334.2 XP_005274391.1
          XM_005274335.2 XP_005274392.1
          XM_005274336.2 XP_005274393.1
          XM_005274337.2 XP_005274394.1
          XM_005274340.2 XP_005274397.1
          XM_006718699.2 XP_006718762.1
          XM_006718700.2 XP_006718763.1
          XM_006718701.3 XP_006718764.1
          XM_011545293.1 XP_011543595.1
          XM_017018381.1 XP_016873870.1
          XM_017018382.1 XP_016873871.1
          XM_017018383.1 XP_016873872.1
          XM_017018384.1 XP_016873873.1
          XM_017018385.1 XP_016873874.1
          XM_017018386.1 XP_016873875.1
          XM_017018387.1 XP_016873876.1
          XM_017018388.1 XP_016873877.1
          AB210017.1
          AF060939.1 AAC16711.1
          AF060940.1 AAC16712.1
          AK291414.1
          AK297062.1
          AK300275.1
          BC048259.1 AAH48259.2
          BC064357.1 AAH64357.1
          BC073961.1 AAH73961.1
          U45976.1 AAB07762.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv1053808 Chr.11:85877876 - 86046651 on Build GRCh38 Gain PICALM CCDC83
          nsv1035489 Chr.11:85791910 - 86067187 on Build GRCh38 Gain PICALM CCDC83 SYTL2
          dgv1247n100 Chr.11:85930576 - 85973892 on Build GRCh38 Gain PICALM
          dgv2041n54 Chr.11:85972511 - 86064017 on Build GRCh38 Loss PICALM

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          vesicle coat protein

          Gene Ontology Categories:

          Function(s) Process(es)

          protein complex assembly
          receptor-mediated endocytosis
          cell proliferation
          negative regulation of gene expression
          synaptic vesicle maturation
          vesicle-mediated transport
          endosomal transport
          regulation of endocytosis
          receptor internalization
          regulation of protein localization
          cargo loading into vesicle
          positive regulation of transcription, DNA-templated
          negative regulation of receptor-mediated endocytosis
          clathrin coat assembly
          iron ion homeostasis
          clathrin-mediated endocytosis
          iron ion import into cell
          cell-cell adhesion
          positive regulation of neuron death
          positive regulation of beta-amyloid formation
          regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process
          positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process
          negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process
          protein binding
          1-phosphatidylinositol binding
          clathrin binding
          clathrin heavy chain binding
          clathrin adaptor activity
          cadherin binding involved in cell-cell adhesion

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