Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SNX14 Gene

Aliases for SNX14 Gene

  • Sorting Nexin 14 2 3 5
  • Sorting Nexin-14 3
  • 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 Vici 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G085592 1.1 ENCODE 0.7 +0.1 149 3.0 PKNOX1 CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 SNHG5 NT5E SYNCRIP SNORD50A SNX14 GC06M085515
GH06G085579 1.1 Ensembl ENCODE 0.4 +13.6 13642 1.7 PKNOX1 FOXA2 CBX3 CHAMP1 FOS NFYC ELF4 ZNF579 NFIC SMARCA4 SNHG5 NT5E SYNCRIP SNX14 GC06M085515
GH06G085574 0.5 ENCODE 0.4 +19.0 19042 0.8 FOXA2 HNF4A MAFK SYNCRIP SNHG5 SNX14 GC06M085515
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000199715 356 2401 PKNOX1 FOXA2 CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

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

Post-translational modifications for SNX14 Gene

  • Ubiquitination at Lys196, Lys213, and isoforms=2, 3, 4756
  • 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 :
  • Belongs to the sorting nexin family.
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).

Gene Ontology (GO) - Molecular Function for SNX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035091 phosphatidylinositol binding IEA --
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding IDA 25848753
genes like me logo Genes that share ontologies with SNX14: view

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

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNX14 gene
Compartment Confidence
lysosome 5
endosome 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:0005764 lysosome IDA 25848753
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005770 late endosome IDA 25848753
GO:0016020 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

Gene Ontology (GO) - Biological Process for SNX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0097352 autophagosome maturation IMP 25848753
genes like me logo Genes that share ontologies with SNX14: view

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SNX14 Gene



NURSA nuclear receptor signaling pathways regulating expression of SNX14 Gene:

SNX14

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.

Evidence on tissue expression from TISSUES for SNX14 Gene

  • Nervous system(4.7)
  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNX14 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SNX14: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia SNX14 34 35
  • 99.89 (n)
dog
(Canis familiaris)
Mammalia SNX14 34 35
  • 94.24 (n)
oppossum
(Monodelphis domestica)
Mammalia SNX14 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNX14 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNX14 34 35
  • 93.27 (n)
mouse
(Mus musculus)
Mammalia Snx14 34 16 35
  • 90.07 (n)
chicken
(Gallus gallus)
Aves SNX14 34 35
  • 81.83 (n)
lizard
(Anolis carolinensis)
Reptilia SNX14 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snx14 34
  • 76.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21099 34
zebrafish
(Danio rerio)
Actinopterygii snx14 34 35
  • 67.75 (n)
Dr.25742 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2489 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012377 34
  • 44.01 (n)
worm
(Caenorhabditis elegans)
Secernentea snx-14 34 35
  • 41.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for SNX14 was found in the sources mined by GeneCards:
  • 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
rs1057519561 Pathogenic 85,533,701(-) GCATT(-/TTTTTTTTTTT)CCATA nc-transcript-variant, reference, frameshift-variant
rs201128942 Pathogenic 85,547,112(+) CTCAC(A/C)CACAG intron-variant, nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs774694340 Pathogenic 85,508,043(+) CCAAT(-/A)CACTT nc-transcript-variant, downstream-variant-500B, reference, frameshift-variant
rs786205229 Pathogenic 85,543,737(-) TTTTA(C/T)GACCA nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs869320748 Pathogenic 85,549,868(-) ATACA(-/A)GAGTT nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2676282 CNV deletion 23128226
esv3609817 CNV loss 21293372
nsv463939 CNV loss 19166990
nsv470839 CNV loss 18288195
nsv472564 CNV novel sequence insertion 20440878
nsv516516 CNV gain+loss 19592680
nsv520112 CNV loss 19592680
nsv5383 CNV deletion 18451855
nsv604092 CNV loss 21841781
nsv604093 CNV loss 21841781

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX14

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

Disorders for SNX14 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 20
  • autosomal recessive spinocerebellar ataxia 20
vici syndrome
  • immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
autosomal recessive cerebellar ataxia
spinocerebellar ataxia 20
  • spinocerebellar ataxia type 20
spastic paraplegia 49, autosomal recessive
  • hereditary spastic paraplegia 49
- 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 64
  2. 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 64
  3. Structural basis for different phosphoinositide specificities of the PX domains of sorting nexins regulating G-protein signaling. (PMID: 25148684) Mas C. … Collins B.M. (J. Biol. Chem. 2014) 3 4 64
  4. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. (PMID: 25439728) Thomas A.C. … Stanier P. (Am. J. Hum. Genet. 2014) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for SNX14 Gene

Sources for SNX14 Gene

Content
Loading form....