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FLASH GENE
Symbol SEMA6D contributors: mct - updated : 25/10/2008
HGNC name sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D
HGNC id 16770
Location 15q21.1      Physical location : 48.010.685 - 48.066.419
Synonym symbol(s) FLJ11598, KIAA1479
DNA
TYPE functioning gene
STRUCTURE 55.73 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
SLC30A4 15q15-q21.1 solute carrier family 30 (zinc transporter), member 4 FLJ39426 15q15.1 hypothetical protein FLJ39426 PLDN 15q14 pallidin homolog (mouse) SQRDL 15q15 sulfide quinone reductase-like (yeast) LOC145660 15q15.1 hypothetical LOC145660 SEMA6D 15q15.2 sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D LOC283652 MYEF2 15q15.1 myelin expression factor 2 SLC12A1 15q15-q21 solute carrier family 12 (sodium/potassium/chloride transporters), member 1 DUT 15q21.1 dUTP pyrophosphatase FBN1 15q21.1 fibrillin 1 (Marfan syndrome) LOC388119 15 similar to Oxr1 protein KIAA0912 15q15.3 KIAA0912 protein CRI1 15q21.1-q21.2 CREBBP/EP300 inhibitory protein 1 LOC390582 15 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 KIAA0256 15q15.3 KIAA0256 gene product TRIP15 15q21.2 KIAA0256 gene product LOC390583 15 similar to Protein C6orf66 (HSPC125) (My013 protein) GALK2 15q21.1 galactokinase 2 FLJ32800 15q15.3 hypothetical protein FLJ32800 LOC390584 15 similar to putative intramembrane cleaving protease; presenilin-like protein 2; intramembrane protease 3 FGF7 15q15-q21.1 fibroblast growth factor 7 (keratinocyte growth factor) MDS009 15q15.3 x 009 protein LOC388120 15 hypothetical gene supported by BC013357; NM_016120 ATP8B4 15q15.3 ATPase, Class I, type 8B, member 4
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 splicing 5923 - 1011 - Qu (2002)
missing an internal region compared to isoform 4 and contains an internal segment unique to this isoform
17 splicing 5884 - 998 - Qu (2002)
18 splicing 5941 - 1017 - Qu (2002)
19 splicing 6109 - 1073 - Qu (2002)
18 splicing 5919 - 597 - Qu (2002)
missing an internal segment and has a unique C-terminus relative to isoform 4.
- splicing 2290 - 476 - Qu
lacking a PSI domain and a predicted transmembrane domain, putative secreted protein.
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   lowly
Hearing/Equilibriumear   highly
Nervousbrain   highly
 braindiencephalon   
 brainhindbraincerebellum  
 spinal cord    
Olfactory (smell)olfactory bulb    
Urinarykidney   highly
Visualeye    
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/ImmuneT cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text
  • placenta
  • fetal eyes
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a semaphorin (SEMA) domain and a PSI domain
    HOMOLOGY
    Homologene
    FAMILY semaphorin family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may be playing a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation
  • playing a role as a regulator of the late phase of primary immune responses
  • regulates T cell activation during the late phases of an immune response
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS