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FLASH GENE
Symbol CRISPLD2 contributors: mct - updated : 05-12-2018
HGNC name cysteine-rich secretory protein LCCL domain containing 2
HGNC id 25248
Location 16q24.1      Physical location : 84.853.586 - 84.943.116
Synonym name
  • LCCL domain containing cysteine-rich secretory protein 2
  • cysteine-rich secretory protein 11
  • late gestation lung 1
  • testis secretory sperm-binding protein Li 207a
  • Synonym symbol(s) CRISP11, LCRISP2, LGL1
    DNA
    TYPE functioning gene
    STRUCTURE 89.53 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 4607 - 497 - 2016 27597766
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemplacenta  highly
     female systemuterus  highly
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text in the mandible, palate and nasopharynx regions during craniofacial development
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two LCCL domains
  • common to other known genes COCH Akhirin and CLCP1
  • may be involved in cell motility
    HOMOLOGY
    Homologene
    FAMILY CRISP family, CAP superfamily
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • plays a role in craniofacial development
  • is an essential gene, required prior to lung formation
  • role in controlling membrane trafficking underlying axonal growth
  • CRISPLD2 regulation of RAB10 stimulates the trafficking of membrane precursor vesicles, whose fusion with the plasmalemma is crucial for axonal growth
  • important role for CRISPLD2 in neural crest cells (NCCs) migration during craniofacial development, suggesting involvement of CRISPLD2 in cell viability during formation of the orofacies
  • glucocorticoid-regulated mesenchymal secretory protein that modulates lung branching and alveogenesis through mesenchymal-epithelial interactions
  • plays a role in human fetal lung fibroblast cell expansion, migration, and mesenchymal-epithelial signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • coordinate transcriptional regulation of CRISPLD2 by glucocorticoid (GC), retinoid (RA) and Vitamin D (VitD)
  • CRISPLD2 interacted with and activated RAB10, a small GTPase that mediates membrane protein trafficking, by releasing GDP dissociation inhibitor (GDI) from RAB10
  • CRISPLD2 is a target of the progesterone receptor and may play an important role in pathogenesis of endometriosis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    increases the risk of lung inflammation in early life and adulthood
    constitutional     --low  
    was significantly decreased in the endometrium of women with endometriosis in the early secretory phase compared to women without endometriosis
    Susceptibility to non-syndromic cleft lip with or without cleft palate
    Variant & Polymorphism other
  • CRISPLD2 rs4783099 was associated with cleft lip and/or palate
  • Candidate gene for non-syndromic cleft lip with or without cleft palate
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • knockdown of Crispld2 in zebrafish alters neural crest cell migration patterns resulting in abnormal jaw and palate development
  • heterozygous Lgl1(+/-) mice exhibit features resembling human Bronchopulmonary dysplasia (BPD)