SNX14
Sorting nexin-14
Also known as: RGS-PX2, SNX14_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5W7
- Gene
- SNX14
- Ensembl
- ENSG00000135317
- Chromosome
- 6
- Canonical length
- 946 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Vesicles,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
946 residues, UniProt reviewed canonical sequence.
>Q9Y5W7|SNX14
1 MVPWVRTMGQ KLKQRLRLDV GREICRQYPL FCFLLLCLSA ASLLLNRYIH ILMIFWSFVA
61 GVVTFYCSLG PDSLLPNIFF TIKYKPKQLG LQELFPQGHS CAVCGKVKCK RHRPSLLLEN
121 YQPWLDLKIS SKVDASLSEV LELVLENFVY PWYRDVTDDE SFVDELRITL RFFASVLIRR
181 IHKVDIPSII TKKLLKAAMK HIEVIVKARQ KVKNTEFLQQ AALEEYGPEL HVALRSRRDE
241 LHYLRKLTEL LFPYILPPKA TDCRSLTLLI REILSGSVFL PSLDFLADPD TVNHLLIIFI
301 DDSPPEKATE PASPLVPFLQ KFAEPRNKKP SVLKLELKQI REQQDLLFRF MNFLKQEGAV
361 HVLQFCLTVE EFNDRILRPE LSNDEMLSLH EELQKIYKTY CLDESIDKIR FDPFIVEEIQ
421 RIAEGPYIDV VKLQTMRCLF EAYEHVLSLL ENVFTPMFCH SDEYFRQLLR GAESPTRNSK
481 LNRGSLSLDD FRNTQKRGES FGISRIGSKI KGVFKSTTME GAMLPNYGVA EGEDDFIEEG
541 IVVMEDDSPV EAVSTPNTPR NLAAWKISIP YVDFFEDPSS ERKEKKERIP VFCIDVERND
601 RRAVGHEPEH WSVYRRYLEF YVLESKLTEF HGAFPDAQLP SKRIIGPKNY EFLKSKREEF
661 QEYLQKLLQH PELSNSQLLA DFLSPNGGET QFLDKILPDV NLGKIIKSVP GKLMKEKGQH
721 LEPFIMNFIN SCESPKPKPS RPELTILSPT SENNKKLFND LFKNNANRAE NTERKQNQNY
781 FMEVMTVEGV YDYLMYVGRV VFQVPDWLHH LLMGTRILFK NTLEMYTDYY LQCKLEQLFQ
841 EHRLVSLITL LRDAIFCENT EPRSLQDKQK GAKQTFEEMM NYIPDLLVKC IGEETKYESI
901 RLLFDGLQQP VLNKQLTYVL LDIVIQELFP ELNKVQKEVT SVTSWMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNX14 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 46 nTPM
Expression across tissuesHPA
Tissue
- testis: 46 nTPM
- liver: 27 nTPM
- hypothalamus: 21 nTPM
- parathyroid gland: 20 nTPM
- adrenal gland: 20 nTPM
- cerebral cortex: 20 nTPM
Single-cell type
- choroid plexus epithelial cells: 200 nCPM
- ependymal cells: 158 nCPM
- microglia: 157 nCPM
- brain excitatory neurons: 156 nCPM
- brain inhibitory neurons: 152 nCPM
- other brain neurons: 151 nCPM
Immune cell
- eosinophil: 19 nTPM
- basophil: 14 nTPM
- non-classical monocyte: 12 nTPM
- intermediate monocyte: 8.5 nTPM
- myeloid DC: 3.6 nTPM
- NK-cell: 3.2 nTPM
Brain region
- choroid plexus: 4.7 nTPM
- pons: 4.5 nTPM
- hypothalamus: 4.4 nTPM
- midbrain: 4.2 nTPM
- cerebellum: 4 nTPM
- medulla oblongata: 3.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SNX14.
Disease | AllUniProt
Conditions SNX14 is implicated in, by any mechanism.
- Spinocerebellar ataxia, autosomal recessive, 20 (SCAR20) MIM:616354
Disease | GeneticClinVar
46 pathogenic / likely-pathogenic of 421 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive spinocerebellar ataxia 20
- SNX14-related disorder
- Thyroid cancer, nonmedullary, 1
- Spinocerebellar atrophy
- Abnormal brain morphology
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.83
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.85
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SNX14 as an antibody target. Whether an autoantibody or antibody against SNX14 could matter depends on whether native SNX14 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNX14 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SNX14 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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