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 alph... See more...

Aliases for SNX14 Gene

Aliases for SNX14 Gene

  • Sorting Nexin 14 2 3 5
  • Sorting Nexin-14 3 4
  • RGS-PX2 2 3
  • SCAR20 3
  • SNX14 5

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. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding. An important paralog of this gene is SNX19.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SNX14 Gene

Genomics for SNX14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SNX14 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J085592 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 619.7 +0.6 611 3.9 CREB1 GATAD2A HNRNPL PRDM10 ZNF629 TFE3 SIX5 SOX13 KDM1A POLR2A SNX14 SNHG5 SYNCRIP NT5E SNORD50A lnc-SNX14-3 ENSG00000271793 lnc-SYNCRIP-8
GH06J085640 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.1 -48.7 -48745 6.2 ARHGAP35 CEBPG SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 SYNCRIP lnc-NT5E-9 SNHG5 SNX14 SNORD50A lnc-SYNCRIP-1 lnc-NT5E-1 ENSG00000271793
GH06J084759 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10 +830.5 830460 8.2 ZNF221 PRDM10 ZNF629 IKZF1 ZNF692 JUND DDX20 PRDM1 MTA2 PHF21A TBX18 CEP162 SNX14 TBX18-AS1 RF00026-951
GH06J085674 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 11 -83.5 -83469 6.5 ZNF221 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 REST LEF1 SNHG5 LOC107986622 SNORD50A SNORD50B lnc-NT5E-3-002 SYNCRIP SNX14 lnc-NT5E-3-001
GH06J085454 Enhancer 0.4 ENCODE dbSUPER 13.1 +140.1 140094 0.1 ZNF140 SNX14 LINC02535-002 NT5E lnc-SNX14-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNX14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNX14

Top Transcription factor binding sites by QIAGEN in the SNX14 gene promoter:
  • aMEF-2
  • C/EBPalpha
  • HNF-3beta
  • HOXA9
  • MEF-2A
  • Meis-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • STAT5B

Genomic Locations for SNX14 Gene

Genomic Locations for SNX14 Gene
chr6:85,505,496-85,594,156
(GRCh38/hg38)
Size:
88,661 bases
Orientation:
Minus strand
chr6:86,215,214-86,303,874
(GRCh37/hg19)
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

    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 Lys213 and Lys756
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SNX14 Gene

Domains & Families for SNX14 Gene

Gene Families for SNX14 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SNX14 Gene

InterPro:
Blocks:
  • Regulator of G-protein signalling (RGS) protein signature
  • Phox-like
  • Sorting nexin, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for SNX14 Gene

GenScript: Design optimal peptide antigens:
  • Sorting nexin 14 (Q5JRQ0_HUMAN)
  • Sorting nexin-14 (SNX14_HUMAN)

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).

Phenotypes From GWAS Catalog for SNX14 Gene

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 IEA,IDA 25848753
genes like me logo Genes that share ontologies with SNX14: view
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNX14

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
endosome 5
lysosome 5
plasma membrane 3
cytosol 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SNX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,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

PathCards logo

SuperPathways for SNX14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

mRNA/cDNA for SNX14 Gene

26 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNX14

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

Expression for SNX14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SNX14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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, MaxQB, and MOPED for SNX14 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.8)
  • Liver(4.4)
  • Kidney(2.2)
  • Skin(2.1)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
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

No data available for 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 30 31
  • 99.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SNX14 30 31
  • 94.24 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SNX14 31
  • 94 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SNX14 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SNX14 30 31
  • 93.27 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Snx14 30 17 31
  • 90.07 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SNX14 30 31
  • 81.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SNX14 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia snx14 30
  • 76.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21099 30
Zebrafish
(Danio rerio)
Actinopterygii snx14 30 31
  • 67.75 (n)
OneToOne
Dr.25742 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2489 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012377 30
  • 44.01 (n)
Worm
(Caenorhabditis elegans)
Secernentea snx-14 30 31
  • 41.72 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for SNX14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SNX14: view image

Paralogs for SNX14 Gene

Paralogs for SNX14 Gene

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

  • SNX14_HUMAN
  • D6RBA7_HUMAN
  • D6RDA6_HUMAN
  • D6RDH9_HUMAN
  • D6REK1_HUMAN
  • D6RJG9_HUMAN
  • E2QRM8_HUMAN
  • H0Y926_HUMAN
  • Q5JRQ0_HUMAN
genes like me logo Genes that share paralogs with SNX14: view

Variants for SNX14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNX14 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
711034 Likely Benign: not provided 85,593,710(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
711444 Benign: not provided 85,565,365(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
713083 Benign: not provided 85,514,095(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
713326 Benign: not provided 85,572,372(-) C/A SPLICE_ACCEPTOR_VARIANT,MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
715424 Likely Benign: not provided 85,567,583(-) T/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SNX14 Gene

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)

Additional Variant Information for SNX14 Gene

Human Gene Mutation Database (HGMD)
SNX14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX14

SNP Genotyping and Copy Number Assay Products

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

Disorders for SNX14 Gene

MalaCards: The human disease database

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

- 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, ECO:0000269 PubMed:26443249}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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 RD … Gleeson PA (The Biochemical journal 2001) 2 3 4
  2. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. (PMID: 25848753) Akizu N … Gleeson JG (Nature genetics 2015) 3 4
  3. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. (PMID: 25439728) Thomas AC … Stanier P (American journal of human genetics 2014) 3 4
  4. Structural basis for different phosphoinositide specificities of the PX domains of sorting nexins regulating G-protein signaling. (PMID: 25148684) Mas C … Collins BM (The Journal of biological chemistry 2014) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for SNX14 Gene

Sources for SNX14 Gene