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FLASH GENE
Symbol EPB41L2 contributors: mct - updated : 24-07-2012
HGNC name erythrocyte membrane protein band 4.1-like 2
HGNC id 3379
Location 6q23.2      Physical location : 131.160.487 - 131.384.462
Synonym symbol(s) RP3-324N14.1, 4.1-G, 4.1G
DNA
TYPE functioning gene
STRUCTURE 223.98 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
alternative promoter
text structure
  • exon 1A and exon 1B
  • exon 17B included only in the brain
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3473 - 673 - 1994 9598318
    20 - 4457 - 1005 - 1994 9598318
    15 - 3443 - 673 - 1994 9598318
    18 - 4051 - 852 - 1994 9598318
    18 - 3985 - 852 - 1994 9598318
    - - 3675 - 747 - 1994 9598318
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Reproductivemale systemmale genital tractseminiferous tubule  
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousSchawnn cell
    Reproductivespermatogonia
    Visualcone photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal FERM domain
  • a spectrin-actin binding (SABD)domain
  • a conserved C terminus, with a C-terminal domain identified to interact with the cytosolic tail of the high affinity IgG receptor, FCGR1A
  • HOMOLOGY
    Homologene
    FAMILY ezrin/moesin/radixin-like (ERM) family member
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text
  • membrane skeletal protein found in specific subcellular structures in myelinated Schwann cells and seminiferous tubules
  • in the seminiferous tubules, MPP6 was localized similarly to EPB41L2 along cell membranes of the spermatogonium and early spermatocytes
  • basic FUNCTION
  • responding and participating in reorganization of membrane-cytoplasmic interaction
  • plays an important role in the membrane expansion and specialization that occurs during formation and maintenance of myelin internodes in the peripheral nervous system
  • found in germ cells, and having interaction with CADM family, it probably has roles in attachment of both Sertoli-germ and germ-germ cells
  • plays a role in spermatogenesis by mediating cell-cell adhesion between spermatogenic and Sertoli cells through its interaction with CADM4 on Sertoli cells
  • has a specific role in the targeting of MPP6 to the SLI (Schmidt-Lanterman incisures) and the assembly of these subcellular structures
  • EPB41, EPB41L1, EPB41L2 proteins are differentially compartmentalised in the heart, and they form specific complexes with proteins central to cardiomyocyte Ca(2+) metabolism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component constituent of plasmic membrane, binding F-actin to spectrin dimers and crucial for the maintenance of integral membrane red blood cell shape
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ITGAL-associated molecule, CD226, is localized to membrane rafts and binds the C-terminal domain of isoforms of the actin-binding protein EPB41L2
  • MPP6 was interacting with EPB41L2
  • binds to the AP3B2 protein, which is involved in neuronal membrane trafficking, and promotes neurite extension in an AP3B2-dependent manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • 4.1G(-/-) mice revealed atrophy, impaired cell-cell contact and sloughing off of spermatogenic cells in seminiferous epithelium, and lack of mature spermatids in the epididymis
  • 4.1G-deficient retina exhibits mislocalization of photoreceptor terminals, although their synaptic connections are normally formed