Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SNX14 contributors: mct - updated : 04-12-2014
HGNC name sorting nexin 14
HGNC id 14977
Corresponding disease
SCAR17 spinocerebellar ataxia, autosomal recessive 17
Location 6q14.3      Physical location : 86.215.216 - 86.303.629
Synonym symbol(s) MGC13217, RGS-PX2, RP11-321N4.2
DNA
TYPE functioning gene
STRUCTURE 88.54 kb     29 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
PGM3 6q14.1-q15 phosphoglucomutase 3 RWDD2 6q15 RWD domain containing 2 ME1 6q12 malic enzyme 1, NADP(+)-dependent, cytosolic C6orf158 6q15 chromosome 6 open reading frame 158 SNAP91 6q13 synaptosomal-associated protein, 91kDa homolog (mouse) C6orf159 6q15 chromosome 6 open reading frame 159 NCB5OR 6pter-q22.33 NADPH cytochrome B5 oxidoreductase C6orf117 6q14.3 chromosome 6 open reading frame 117 C6orf84 6pter-q16.1 chromosome 6 open reading frame 84 LOC346033 6q15 similar to SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1 TBX18 6p14-q15 T-box 18 LOC391946 6 similar to ribosomal protein L31 LOC391947 6 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC391948 6 similar to Translationally controlled tumor protein (TCTP) (p23) (Histamine-releasing factor) (HRF) NT5E 6q14-q15 5'-nucleotidase, ecto (CD73) SNX14 6q15 sorting nexin 14 SYNCRIP 6q14-q15 synaptotagmin binding, cytoplasmic RNA interacting protein LOC389414 6 LOC389414 LOC391949 6 similar to 60S ribosomal protein L7 LOC134686 6q15 similar to NADH-ubiquinone oxidoreductase 13 kDa-B subunit (Complex I-13Kd-B) (CI-13Kd-B) (Complex I subunit B13) HTR1E 6q14-q15 5-hydroxytryptamine (serotonin) receptor 1E CGA 6q12-q21 glycoprotein hormones, alpha polypeptide LOC391950 6 similar to Reticulocalbin 1 precursor LOC389415 6 LOC389415 ZNF292 6q15 zinc finger protein 292 GJB7 6q15 gap junction protein, beta 7 C6orf162 6q15-q16.1 chromosome 6 open reading frame 162 C6orf163 6q15 chromosome 6 open reading frame 163 C6orf165 6q15 chromosome 6 open reading frame 165 TAF13P 6q14.3-15 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, pseudogene SLC35A1 6q16.1 solute carrier family 35 (CMP-sialic acid transporter), member A1 RARSL 6q16.1 arginyl-tRNA synthetase-like ORC3L 6q14.3-16.3 origin recognition complex, subunit 3-like (yeast) C6orf166 6q15 chromosome 6 open reading frame 166
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
26 splicing 3346 - 893 - 2014 25439728
SNX14-Ib
29 splicing 3505 - 946 - 2014 25439728
SNX14-Ia
- - 3714 - 937 - 2014 25439728
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiens
Digestiveliver     Homo sapiens
Nervousbrain   highly Homo sapiens
 spinal cordanterior horn    Homo sapiens
Reproductivefemale systemplacenta    Homo sapiens
Skin/Tegumentskin     Homo sapiens
Urinarykidney     Homo sapiens
Visualeye     Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a Phox (PX) and regulator of G protein signaling (RGS) domains
  • one PXA domain
  • a putative double transmembrane domain including a short cytoplasmic leader sequence
  • HOMOLOGY
    Homologene
    FAMILY
  • sorting nexin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • involved in several stage of intracellular trafficking
  • role for monoallelic SNX14 expression in maintaining normal neuronal excitability and synaptic transmission
  • essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum
  • role for SNX14 in endosomal sorting and the regulation of protein degradation
  • essential role for SNX14 with the breakdown and recycling of cellular components in human cerebellar development and maintenance
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAR17
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS