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Aliases for SNX14 Gene

Aliases for SNX14 Gene

  • Sorting Nexin 14 2 3 5
  • RGS-PX2 3
  • SCAR20 3

External Ids for SNX14 Gene

Previous GeneCards Identifiers for SNX14 Gene

  • GC06U990242
  • GC06M086181
  • GC06M086210
  • GC06M086271
  • GC06M086215
  • GC06M083439

Summaries for SNX14 Gene

Entrez Gene Summary for SNX14 Gene

  • This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

GeneCards Summary for SNX14 Gene

SNX14 (Sorting Nexin 14) is a Protein Coding gene. Diseases associated with SNX14 include Spinocerebellar Ataxia, Autosomal Recessive 20 and Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome. GO annotations related to this gene include phosphatidylinositol binding. An important paralog of this gene is SNX13.

UniProtKB/Swiss-Prot for SNX14 Gene

  • Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes (PubMed:25848753). Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:25848753, PubMed:25148684).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNX14 Gene

Genomics for SNX14 Gene

Regulatory Elements for SNX14 Gene

Enhancers for SNX14 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SNX14 on UCSC Golden Path with GeneCards custom track

Promoters for SNX14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SNX14 on UCSC Golden Path with GeneCards custom track

Genomic Location for SNX14 Gene

Chromosome:
6
Start:
85,505,496 bp from pter
End:
85,594,156 bp from pter
Size:
88,661 bases
Orientation:
Minus strand

Genomic View for SNX14 Gene

Genes around SNX14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX14 Gene

Proteins for SNX14 Gene

  • Protein details for SNX14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5W7-SNX14_HUMAN
    Recommended name:
    Sorting nexin-14
    Protein Accession:
    Q9Y5W7
    Secondary Accessions:
    • B4DI55
    • Q4VBR3
    • Q5TCF9
    • Q5TCG0
    • Q6NUI7
    • Q6PI37
    • Q9BSD1

    Protein attributes for SNX14 Gene

    Size:
    946 amino acids
    Molecular mass:
    110182 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI20444.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20445.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SNX14 Gene

    Alternative splice isoforms for SNX14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX14 Gene

Proteomics data for SNX14 Gene at MOPED

Post-translational modifications for SNX14 Gene

  • Ubiquitination at Lys 196, Lys 213, and Lys 756
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SNX14 Gene

Domains & Families for SNX14 Gene

Gene Families for SNX14 Gene

Suggested Antigen Peptide Sequences for SNX14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5W7

UniProtKB/Swiss-Prot:

SNX14_HUMAN :
  • Contains 1 PX (phox homology) domain.
  • Belongs to the sorting nexin family.
Domain:
  • Contains 1 PX (phox homology) domain.
  • Contains 1 PXA domain.
  • Contains 1 RGS domain.
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX14: view

Function for SNX14 Gene

Molecular function for SNX14 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes (PubMed:25848753). Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:25848753, PubMed:25148684).

Phenotypes for SNX14 Gene

genes like me logo Genes that share phenotypes with SNX14: view

Human Phenotype Ontology for SNX14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SNX14 Gene

Localization for SNX14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX14 Gene

Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Cell projection, dendrite.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNX14 Gene COMPARTMENTS Subcellular localization image for SNX14 gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
plasma membrane 3
cytosol 2
golgi apparatus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SNX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
GO:0031902 late endosome membrane IEA --
genes like me logo Genes that share ontologies with SNX14: view

Pathways & Interactions for SNX14 Gene

SuperPathways for SNX14 Gene

No Data Available

Interacting Proteins for SNX14 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000313121%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000257555%0d%0a
Selected Interacting proteins: ENSP00000313121 Q9Y5W7-SNX14_HUMAN for SNX14 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for SNX14 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SNX14 Gene

Drugs & Compounds for SNX14 Gene

No Compound Related Data Available

Transcripts for SNX14 Gene

Unigene Clusters for SNX14 Gene

Sorting nexin 14:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNX14 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ·
SP1: - -
SP2: - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - -
SP6:
SP7:
SP8:

ExUns: 21c ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SNX14 Gene

GeneLoc Exon Structure for
SNX14
ECgene alternative splicing isoforms for
SNX14

Expression for SNX14 Gene

mRNA expression in normal human tissues for SNX14 Gene

Protein differential expression in normal tissues from HIPED for SNX14 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.4), Bone (17.1), and Pancreatic juice (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNX14 Gene



SOURCE GeneReport for Unigene cluster for SNX14 Gene Hs.485871

mRNA Expression by UniProt/SwissProt for SNX14 Gene

Q9Y5W7-SNX14_HUMAN
Tissue specificity: Widely expressed both in fetal and adult tissues.
genes like me logo Genes that share expression patterns with SNX14: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for SNX14 Gene

Orthologs for SNX14 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNX14 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SNX14 35
  • 93.27 (n)
  • 96.19 (a)
SNX14 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNX14 35
  • 94.24 (n)
  • 97.12 (a)
SNX14 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snx14 35
  • 90.07 (n)
  • 97.44 (a)
Snx14 16
Snx14 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNX14 35
  • 99.89 (n)
  • 100 (a)
SNX14 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNX14 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNX14 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNX14 35
  • 81.83 (n)
  • 88.76 (a)
SNX14 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNX14 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snx14 35
  • 76.67 (n)
  • 83.59 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21099 35
zebrafish
(Danio rerio)
Actinopterygii Dr.25742 35
snx14 35
  • 67.75 (n)
  • 74.16 (a)
snx14 36
  • 73 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2489 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012377 35
  • 44.01 (n)
  • 30.99 (a)
worm
(Caenorhabditis elegans)
Secernentea snx-14 35
  • 41.72 (n)
  • 29.5 (a)
snx-14 36
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for SNX14:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNX14 Gene

ENSEMBL:
Gene Tree for SNX14 (if available)
TreeFam:
Gene Tree for SNX14 (if available)

Paralogs for SNX14 Gene

Paralogs for SNX14 Gene

(1) SIMAP similar genes for SNX14 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with SNX14: view

Variants for SNX14 Gene

Sequence variations from dbSNP and Humsavar for SNX14 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs5877939 -- 85,538,277(+) TTTTT(-/T)AATCC intron-variant
rs5877941 -- 85,574,384(+) CTTAA(-/AAAT)AAATG intron-variant, upstream-variant-2KB
rs5877943 -- 85,591,232(+) TGTGT(-/GT)ACGTG intron-variant
rs6454472 -- 85,514,335(+) TTTTA(G/T)TTGTA intron-variant
rs6454473 -- 85,535,497(+) TGCAA(C/T)CCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNX14 Gene

Variant ID Type Subtype PubMed ID
nsv520112 CNV Loss 19592680
nsv886333 CNV Loss 21882294
nsv463939 CNV Loss 19166990
nsv470839 CNV Loss 18288195
nsv886334 CNV Loss 21882294
nsv516516 CNV Gain+Loss 19592680
esv2676282 CNV Deletion 23128226
nsv5383 CNV Loss 18451855

Variation tolerance for SNX14 Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNX14 Gene

Human Gene Mutation Database (HGMD)
SNX14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX14 Gene

Disorders for SNX14 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SNX14 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 20
  • autosomal recessive spinocerebellar ataxia 20
intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
  • autosomal recessive spinocerebellar ataxia type 20
autosomal recessive cerebellar ataxia
vici syndrome
  • immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
- elite association - COSMIC cancer census association via MalaCards
Search SNX14 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SNX14_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 20 (SCAR20) [MIM:616354]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability. {ECO:0000269 PubMed:25439728, ECO:0000269 PubMed:25848753}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SNX14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNX14
genes like me logo Genes that share disorders with SNX14: view

No data available for Genatlas for SNX14 Gene

Publications for SNX14 Gene

  1. A large family of endosome-localized proteins related to sorting nexin 1. (PMID: 11485546) Teasdale R.D. … Gleeson P.A. (Biochem. J. 2001) 2 3 4 67
  2. The Phox homology (PX) domain, a new player in phosphoinositide signalling. (PMID: 11736640) Xu Y. … Hong W. (Biochem. J. 2001) 2 3
  3. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. (PMID: 25848753) Akizu N. … Gleeson J.G. (Nat. Genet. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for SNX14 Gene

Sources for SNX14 Gene

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