This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediate... See more...

Aliases for PICALM Gene

Aliases for PICALM Gene

  • Phosphatidylinositol Binding Clathrin Assembly Protein 2 3 5
  • CALM 2 3 4
  • Phosphatidylinositol-Binding Clathrin Assembly Protein 3 4
  • Clathrin Assembly Lymphoid Myeloid Leukemia Protein 3 4
  • CLTH 2 3
  • PICALM 5
  • LAP 3

External Ids for PICALM Gene

Previous GeneCards Identifiers for PICALM Gene

  • GC11M087996
  • GC11M087208
  • GC11M085892
  • GC11M085396
  • GC11M085346
  • GC11M085668
  • GC11M081965

Summaries for PICALM Gene

Entrez Gene Summary for PICALM Gene

  • This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

GeneCards Summary for PICALM Gene

PICALM (Phosphatidylinositol Binding Clathrin Assembly Protein) is a Protein Coding gene. Diseases associated with PICALM include Leukemia, Acute Myeloid and Precursor T-Cell Acute Lymphoblastic Leukemia. Among its related pathways are Clathrin-mediated endocytosis and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include phospholipid binding and 1-phosphatidylinositol binding. An important paralog of this gene is SNAP91.

UniProtKB/Swiss-Prot Summary for PICALM Gene

  • Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly (PubMed:10436022, PubMed:16262731, PubMed:27574975). Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature (PubMed:25898166). In addition to binding to clathrin, mediates the endocytosis of small R-SNARES (Soluble NSF Attachment Protein REceptors) between plasma membranes and endosomes including VAMP2, VAMP3, VAMP4, VAMP7 or VAMP8 (PubMed:22118466, PubMed:21808019, PubMed:23741335). In turn, PICALM-dependent SNARE endocytosis is required for the formation and maturation of autophagic precursors (PubMed:25241929). Modulates thereby autophagy and the turnover of autophagy substrates such as MAPT/TAU or amyloid precursor protein cleaved C-terminal fragment (APP-CTF) (PubMed:25241929, PubMed:24067654).

Gene Wiki entry for PICALM Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PICALM Gene

Genomics for PICALM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PICALM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J086060 Promoter/Enhancer 2.1 EPDnew ENCODE CraniofacialAtlas dbSUPER 608.2 +3.7 3703 10.4 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 LEF1 IKZF1 PICALM EED CREBZF CCDC83 NONHSAG009267.2 lnc-CCDC83-3 lnc-SYTL2-5 lnc-SYTL2-4
GH11J086138 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 34.8 -72.4 -72416 8 LEF1 IKZF1 ETV6 JUND DDX20 RELA PKNOX1 MTA1 NR2C1 IKZF2 PICALM EED CCDC83 SYTL2 HIKESHI RNU6-560P lnc-EED-4 piR-57337-010
GH11J086155 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 23.7 -90.3 -90319 10.4 PRDM10 LEF1 IKZF1 JUND FOXA1 DDX20 MTA2 PKNOX1 MTA1 REST PICALM EED CREBZF CCDC83 HIKESHI RF00026-197 LINC02695 lnc-EED-4
GH11J086171 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 19.7 -106.2 -106158 9.3 CREB1 PRDM10 ZNF629 TFE3 LEF1 IKZF1 JUND DDX20 MTA2 PKNOX1 EED CREBZF PICALM RNU6-560P LOC100289518 LINC02695 RF00026-197
GH11J086201 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.2 -132.6 -132627 1.4 PRDM10 ZNF512 IKZF1 PHF21A PKNOX1 ZNF24 REST NR2C1 IKZF2 RCOR1 PICALM RNU6-560P EED HIKESHI ENSG00000254502 ENSG00000276669
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PICALM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PICALM

Top Transcription factor binding sites by QIAGEN in the PICALM gene promoter:
  • AML1a
  • CUTL1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • PPAR-alpha

Genomic Locations for PICALM Gene

Genomic Locations for PICALM Gene
chr11:85,957,175-86,069,882
(GRCh38/hg38)
Size:
112,708 bases
Orientation:
Minus strand
chr11:85,668,214-85,780,924
(GRCh37/hg19)
Size:
112,711 bases
Orientation:
Minus strand

Genomic View for PICALM Gene

Genes around PICALM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PICALM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PICALM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PICALM Gene

Proteins for PICALM Gene

  • Protein details for PICALM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13492-PICAL_HUMAN
    Recommended name:
    Phosphatidylinositol-binding clathrin assembly protein
    Protein Accession:
    Q13492
    Secondary Accessions:
    • B4DTM3
    • E9PN05
    • F8VPG7
    • O60700
    • Q4LE54
    • Q6GMQ6
    • Q86XZ9

    Protein attributes for PICALM Gene

    Size:
    652 amino acids
    Molecular mass:
    70755 Da
    Quaternary structure:
    • Binds to clathrin; involves primarily the C-terminal sequences, but the full-length protein is required for full binding capacity. Binds phosphatidylinositol 4,5- bisphosphate. Interacts with PIMREG; this interaction may change the subcellular location into the nucleus (PubMed:16491119). Interacts with AP2A1 (via its alpha-appendage domain) (PubMed:16262731). Interacts (via N-terminus) with VAMP2; VAMP3; VAMP7 and VAMP8 (Via N-terminus) (PubMed:22118466, PubMed:21808019, PubMed:23741335). Interacts with LC3/MAP1LC3A (PubMed:24067654).
    SequenceCaution:
    • Sequence=BAE06099.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PICALM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PICALM Gene

Post-translational modifications for PICALM Gene

  • Ubiquitination at Lys134, Lys318, and Lys324
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PICALM Gene

Domains & Families for PICALM Gene

Gene Families for PICALM Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PICALM Gene

InterPro:
Blocks:
  • Epsin N-terminal homology
  • Epsin-like, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for PICALM Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol-binding clathrin assembly protein isoform 2 (B5BU72_HUMAN)
  • Clathrin assembly lymphoid myeloid leukemia protein (PICAL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13492

UniProtKB/Swiss-Prot:

PICAL_HUMAN :
  • Belongs to the PICALM/SNAP91 family.
Family:
  • Belongs to the PICALM/SNAP91 family.
genes like me logo Genes that share domains with PICALM: view

Function for PICALM Gene

Molecular function for PICALM Gene

UniProtKB/Swiss-Prot Function:
Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly (PubMed:10436022, PubMed:16262731, PubMed:27574975). Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature (PubMed:25898166). In addition to binding to clathrin, mediates the endocytosis of small R-SNARES (Soluble NSF Attachment Protein REceptors) between plasma membranes and endosomes including VAMP2, VAMP3, VAMP4, VAMP7 or VAMP8 (PubMed:22118466, PubMed:21808019, PubMed:23741335). In turn, PICALM-dependent SNARE endocytosis is required for the formation and maturation of autophagic precursors (PubMed:25241929). Modulates thereby autophagy and the turnover of autophagy substrates such as MAPT/TAU or amyloid precursor protein cleaved C-terminal fragment (APP-CTF) (PubMed:25241929, PubMed:24067654).

Phenotypes From GWAS Catalog for PICALM Gene

Gene Ontology (GO) - Molecular Function for PICALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA,IDA 22118466
GO:0001540 amyloid-beta binding IC --
GO:0005515 protein binding IPI 16262731
GO:0005543 phospholipid binding IEA --
GO:0005545 1-phosphatidylinositol binding IEA,ISS --
genes like me logo Genes that share ontologies with PICALM: view
genes like me logo Genes that share phenotypes with PICALM: view

Human Phenotype Ontology for PICALM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PICALM Gene

MGI Knock Outs for PICALM:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PICALM

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PICALM Gene

Localization for PICALM Gene

Subcellular locations from UniProtKB/Swiss-Prot for PICALM Gene

Cell membrane. Membrane, clathrin-coated pit. Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle. Nucleus. Note=Colocalized with clathrin in the Golgi area (PubMed:10436022). Interaction with PIMREG may target PICALM to the nucleus in some cells (PubMed:16491119). {ECO:0000269 PubMed:10436022, ECO:0000269 PubMed:16491119}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PICALM gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
endosome 4
golgi apparatus 4
extracellular 2
cytoskeleton 2
mitochondrion 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PICALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16491119
GO:0005769 early endosome IDA 26005850
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA,IDA 16262731
genes like me logo Genes that share ontologies with PICALM: view

Pathways & Interactions for PICALM Gene

genes like me logo Genes that share pathways with PICALM: view

Pathways by source for PICALM Gene

2 GeneGo (Thomson Reuters) pathways for PICALM Gene
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
1 R&D Systems pathway for PICALM Gene

SIGNOR curated interactions for PICALM Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PICALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA,IDA 22118466
GO:0006898 receptor-mediated endocytosis IDA 10436022
GO:0006900 vesicle budding from membrane IMP 25898166
GO:0007409 axonogenesis IEA --
GO:0007611 learning or memory ISS 26005850
genes like me logo Genes that share ontologies with PICALM: view

Drugs & Compounds for PICALM Gene

(3) Drugs for PICALM Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium channel blockers Pharma 2175

(1) Additional Compounds for PICALM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PICALM: view

Transcripts for PICALM Gene

mRNA/cDNA for PICALM Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PICALM

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PICALM Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5: -
SP6:
SP7: - - -
SP8: - - -
SP9:
SP10:
SP11: -

ExUns: 21 ^ 22a · 22b · 22c · 22d · 22e · 22f
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7: -
SP8:
SP9: -
SP10:
SP11:

Relevant External Links for PICALM Gene

GeneLoc Exon Structure for
PICALM

Expression for PICALM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PICALM Gene

Protein differential expression in normal tissues from HIPED for PICALM Gene

This gene is overexpressed in Bone marrow stromal cell (12.8), Brain (6.3), and Spleen (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PICALM Gene



Protein tissue co-expression partners for PICALM Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PICALM

SOURCE GeneReport for Unigene cluster for PICALM Gene:

Hs.163893

mRNA Expression by UniProt/SwissProt for PICALM Gene:

Q13492-PICAL_HUMAN
Tissue specificity: Expressed in all tissues examined.

Evidence on tissue expression from TISSUES for PICALM Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Bone marrow(4.5)
  • Kidney(3.4)
  • Blood(3.3)
  • Skin(3.1)
  • Heart(2.8)
  • Spleen(2.6)
  • Muscle(2.6)
  • Intestine(2.6)
  • Thyroid gland(2.6)
  • Lymph node(2.5)
  • Lung(2.2)
  • Stomach(2.2)
  • Adrenal gland(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PICALM Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
  • lymphatic
Regions:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with PICALM: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PICALM Gene

Orthologs for PICALM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PICALM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PICALM 30 31
  • 99.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PICALM 30 31
  • 96.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PICALM 30 31
  • 95.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Picalm 30 17 31
  • 94.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Picalm 30
  • 94.37 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PICALM 31
  • 89 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PICALM 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PICALM 30 31
  • 87.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PICALM 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia picalm.2 30
  • 79.08 (n)
Str.7553 30
Zebrafish
(Danio rerio)
Actinopterygii picalmb 31
  • 84 (a)
OneToMany
picalma 30 31
  • 74.11 (n)
OneToMany
zgc55615 30
Fruit Fly
(Drosophila melanogaster)
Insecta lap 30 31 32
  • 54.26 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010087 30
  • 52.21 (n)
Worm
(Caenorhabditis elegans)
Secernentea unc-11 31 32
  • 35 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YAP1802 31
  • 22 (a)
ManyToMany
YAP1801 31
  • 20 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToMany
Species where no ortholog for PICALM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for PICALM Gene

ENSEMBL:
Gene Tree for PICALM (if available)
TreeFam:
Gene Tree for PICALM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PICALM: view image

Paralogs for PICALM Gene

Paralogs for PICALM Gene

(3) SIMAP similar genes for PICALM Gene using alignment to 14 proteins:

  • PICAL_HUMAN
  • B5BU72_HUMAN
  • E9PI56_HUMAN
  • E9PJT1_HUMAN
  • E9PK13_HUMAN
  • E9PKP6_HUMAN
  • E9PLJ8_HUMAN
  • H0YCY1_HUMAN
  • H0YD48_HUMAN
  • H0YE97_HUMAN
  • H0YEF7_HUMAN
  • H0YEH1_HUMAN
  • H0YEY8_HUMAN
  • L8ECD8_HUMAN
genes like me logo Genes that share paralogs with PICALM: view

Variants for PICALM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PICALM Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
689684 Uncertain Significance: Marfanoid habitus and intellectual disability 86,026,368(-) C/T SPLICE_ACCEPTOR_VARIANT
726978 Benign: not provided 85,996,869(-) T/C SYNONYMOUS_VARIANT
731410 Benign: not provided 85,981,138(-) A/T SYNONYMOUS_VARIANT
748516 Likely Benign: not provided 86,026,335(-) C/T SYNONYMOUS_VARIANT
748719 Likely Benign: not provided 85,983,980(-) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PICALM Gene

Structural Variations from Database of Genomic Variants (DGV) for PICALM Gene

Variant ID Type Subtype PubMed ID
dgv1247n100 CNV gain 25217958
dgv164n27 CNV loss 19166990
dgv2041n54 CNV loss 21841781
esv3627080 CNV gain 21293372
esv3892049 CNV loss 25118596
nsv1035489 CNV gain 25217958
nsv1053808 CNV gain 25217958
nsv469975 CNV gain 18288195
nsv951049 CNV duplication 24416366

Variation tolerance for PICALM Gene

Residual Variation Intolerance Score: 18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PICALM Gene

Human Gene Mutation Database (HGMD)
PICALM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PICALM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PICALM Gene

Disorders for PICALM Gene

MalaCards: The human disease database

(17) MalaCards diseases for PICALM Gene - From: OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • aml
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
myeloid leukemia
  • leukaemia myelogenous
thyroid lymphoma
leukemia
  • leukemias
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PICAL_HUMAN
  • Note=A chromosomal aberration involving PICALM is found in diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with MLLT10. {ECO:0000269 PubMed:8643484}.

Additional Disease Information for PICALM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PICALM: view

No data available for Genatlas for PICALM Gene

Publications for PICALM Gene

  1. The t(10;11)(p13;q14) in the U937 cell line results in the fusion of the AF10 gene and CALM, encoding a new member of the AP-3 clathrin assembly protein family. (PMID: 8643484) Dreyling MH … Bohlander SK (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 23
  2. Effect of clathrin assembly lymphoid myeloid leukemia protein depletion on clathrin coat formation. (PMID: 16262731) Meyerholz A … Ungewickell EJ (Traffic (Copenhagen, Denmark) 2005) 3 4 23
  3. Alternative splicing in wild-type AF10 and CALM cDNAs and in AF10-CALM and CALM-AF10 fusion cDNAs produced by the t(10;11)(p13-14;q14-q21) suggests a potential role for truncated AF10 polypeptides. (PMID: 9737689) Silliman CC … Hunger SP (Leukemia 1998) 3 4 23
  4. A Novel Sequence in AP180 and CALM Promotes Efficient Clathrin Binding and Assembly. (PMID: 27574975) Moshkanbaryans L … Graham ME (PloS one 2016) 3 4
  5. CALM regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature. (PMID: 25898166) Miller SE … Owen DJ (Developmental cell 2015) 3 4

Products for PICALM Gene

Sources for PICALM Gene