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FLASH GENE
Symbol KPTN contributors: mct - updated : 21-01-2014
HGNC name kaptin (actin binding protein)
HGNC id 6404
Corresponding disease
MNDS Macrocephaly, Neurodevelopmental Delay, and Seizures
Location 19q13.32      Physical location : 47.978.400 - 47.987.521
Synonym name actin-associated protein 2E4
Synonym symbol(s) 2E4, Kaptin
DNA
TYPE functioning gene
STRUCTURE 9.12 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D19S211 - D19S226 - D19S414 - D19S425 - GPI - COX6B1 - D19S208 - CAPNS1 - MAG - D19S228 - LGALS7 - D19S224 - D19S421 - D19S223 - D19S217 - D19S2117 - qter
Authors GeneMap (99), Bearer (00)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 1688 - 436 - 1999 10099934
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary   
Nervousnervecranial nerve   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialabsorptive excretorydigestive epithelium (mucosa)   Homo sapiens
Epithelialsensory    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticplatelet Homo sapiens
Nervousneuron Homo sapiens
not specificfibroblast Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text inner ear, sensory cells (stereocilla)
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Kptn
Homologene
FAMILY
CATEGORY regulatory , structural protein
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytoskeleton,microfilament
intracellular,nucleus
intracellular,nuclear envelope
text lamellipodia
basic FUNCTION
  • actin polymerization leading to platelet activation and stereocilia formation
  • actin-binding protein in spread platelets
  • crucial role for normal human neuromorphogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein filamentous (F)-actin
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MNDS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS