SNX8

gene
On this page

Also known as Mvp1

Summary

SNX8 (sorting nexin 8, HGNC:14972) is a protein-coding gene on chromosome 7p22.3, encoding Sorting nexin-8 (Q9Y5X2). May be involved in several stages of intracellular trafficking.

Enables identical protein binding activity and phosphatidylinositol binding activity. Involved in early endosome to Golgi transport and intracellular protein transport. Located in early endosome membrane and retromer complex.

Source: NCBI Gene 29886 — RefSeq curated summary.

At a glance

  • GWAS associations: 9
  • Clinical variants (ClinVar): 113 total
  • MANE Select transcript: NM_013321

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14972
Approved symbolSNX8
Namesorting nexin 8
Location7p22.3
Locus typegene with protein product
StatusApproved
AliasesMvp1
Ensembl geneENSG00000106266
Ensembl biotypeprotein_coding
OMIM614905
Entrez29886

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 10 protein_coding, 3 retained_intron

ENST00000222990, ENST00000419693, ENST00000435060, ENST00000435336, ENST00000447136, ENST00000457286, ENST00000479689, ENST00000480807, ENST00000494722, ENST00000878403, ENST00000878404, ENST00000926983, ENST00000926984

RefSeq mRNA: 1 — MANE Select: NM_013321 NM_013321

CCDS: CCDS5331

Canonical transcript exons

ENST00000222990 — 11 exons

ExonStartEnd
ENSE0000066809822751122275229
ENSE0000066809922718502271971
ENSE0000066810322577352257803
ENSE0000066810422573652257514
ENSE0000083151123143282314441
ENSE0000115612522517702255169
ENSE0000349607822568742257023
ENSE0000356847122632302263362
ENSE0000357483522642982264458
ENSE0000357835222695592269639
ENSE0000366725022781002278305

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 94.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.2744 / max 239.8270, expressed in 1808 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
8248518.94591806
824872.10581078
824860.208576
824830.00802
824820.00624

Top tissues by expression

244 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
stromal cell of endometriumCL:000225594.76gold quality
left testisUBERON:000453393.72gold quality
right testisUBERON:000453492.92gold quality
spleenUBERON:000210692.67gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099191.28gold quality
testisUBERON:000047391.15gold quality
vermiform appendixUBERON:000115490.43gold quality
lymph nodeUBERON:000002989.88gold quality
tendon of biceps brachiiUBERON:000818889.69gold quality
gall bladderUBERON:000211088.57gold quality
prefrontal cortexUBERON:000045187.78gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047387.65gold quality
olfactory segment of nasal mucosaUBERON:000538687.55gold quality
subcutaneous adipose tissueUBERON:000219087.51gold quality
hindlimb stylopod muscleUBERON:000425287.28gold quality
right atrium auricular regionUBERON:000663187.22gold quality
C1 segment of cervical spinal cordUBERON:000646987.02gold quality
granulocyteCL:000009486.80gold quality
cerebellar vermisUBERON:000472086.80silver quality
upper lobe of left lungUBERON:000895286.79gold quality
omental fat padUBERON:001041486.78gold quality
skin of legUBERON:000151186.76gold quality
caecumUBERON:000115386.74gold quality
peritoneumUBERON:000235886.74gold quality
amniotic fluidUBERON:000017386.73gold quality
lower esophagus mucosaUBERON:003583486.30gold quality
spinal cordUBERON:000224085.98gold quality
adipose tissue of abdominal regionUBERON:000780885.93gold quality
cardiac atriumUBERON:000208185.87gold quality
upper lobe of lungUBERON:000894885.63gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes12.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

126 targeting SNX8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-5193100.0067.261744
HSA-MIR-4476100.0068.182030
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-118499.9968.191458
HSA-MIR-302E99.9670.742669
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-22-3P99.9368.13917
HSA-MIR-145-5P99.9271.131836
HSA-MIR-5195-3P99.9270.921877
HSA-MIR-6768-5P99.9267.361942
HSA-MIR-106A-5P99.9073.942683
HSA-MIR-302A-3P99.8971.231777
HSA-MIR-302B-3P99.8971.231777
HSA-MIR-302C-3P99.8971.201778
HSA-MIR-302D-3P99.8971.251777
HSA-MIR-17-5P99.8973.832665
HSA-MIR-106B-5P99.8874.722795
HSA-MIR-20A-5P99.8874.762769
HSA-MIR-20B-5P99.8874.012621
HSA-MIR-519D-3P99.8873.972607

Literature-anchored findings (GeneRIF, showing 6)

  • SNX4, but not SNX1 and SNX8, is associated with the Rab11-recycling endosomes and that a high frequency of SNX4-mediated tubule formation is observed as endosomes undergo Rab4-to-Rab11 transition. (PMID:21973056)
  • SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot. (PMID:24311514)
  • SNX8 mediates IFNG-triggered non-canonical signaling pathway and host defense against Listeria monocytogenes. (PMID:29180417)
  • Fatty Acid Synthase-Suppressor Screening Identifies Sorting Nexin 8 as a Therapeutic Target for NAFLD. (PMID:34231239)
  • A PX-BAR protein Mvp1/SNX8 and a dynamin-like GTPase Vps1 drive endosomal recycling. (PMID:34524084)
  • SNX8 enables lysosome reformation and reverses lysosomal storage disorder. (PMID:38519472)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriosnx8aENSDARG00000074842
danio_reriosnx8bENSDARG00000078057
mus_musculusSnx8ENSMUSG00000029560
rattus_norvegicusSnx8ENSRNOG00000001258

Paralogs (15): SNX11 (ENSG00000002919), SNX1 (ENSG00000028528), SNX10 (ENSG00000086300), SNX5 (ENSG00000089006), SNX3 (ENSG00000112335), SNX4 (ENSG00000114520), SNX6 (ENSG00000129515), SNX9 (ENSG00000130340), SNX12 (ENSG00000147164), SNX30 (ENSG00000148158), SNX7 (ENSG00000162627), SNX32 (ENSG00000172803), SNX33 (ENSG00000173548), SNX18 (ENSG00000178996), SNX2 (ENSG00000205302)

Protein

Protein identifiers

Sorting nexin-8Q9Y5X2 (reviewed: Q9Y5X2)

All UniProt accessions (6): Q9Y5X2, C9IYC5, C9J014, C9J271, C9J8E6, C9JCB9

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in several stages of intracellular trafficking. May play a role in intracellular protein transport from early endosomes to the trans-Golgi network.

Subcellular location. Early endosome membrane.

Similarity. Belongs to the sorting nexin family.

RefSeq proteins (1): NP_037453* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001683PX_domDomain
IPR027267AH/BAR_dom_sfHomologous_superfamily
IPR028662SNX8/Mvp1Family
IPR035704SNX8/Mvp1_PXDomain
IPR036871PX_dom_sfHomologous_superfamily
IPR045734Snx8_BAR_domDomain

Pfam: PF00787, PF19566

UniProt features (10 total): binding site 3, modified residue 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y5X2-F184.360.68

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (3): 109; 135; 148

Post-translational modifications (2): 452, 456

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 193 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, KYNG_DNA_DAMAGE_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, chr7p22, GOBP_EARLY_ENDOSOME_TO_GOLGI_TRANSPORT, USF_02, GOBP_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI, MODULE_48, NIKOLSKY_BREAST_CANCER_7P22_AMPLICON, IZADPANAH_STEM_CELL_ADIPOSE_VS_BONE_UP, MODULE_95, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, SENESE_HDAC3_TARGETS_DN, GOBP_CYTOSOLIC_TRANSPORT

GO Biological Process (4): intracellular protein transport (GO:0006886), early endosome to Golgi transport (GO:0034498), protein transport (GO:0015031), retrograde transport, endosome to Golgi (GO:0042147)

GO Molecular Function (4): phosphatidylinositol binding (GO:0035091), identical protein binding (GO:0042802), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (6): cytosol (GO:0005829), early endosome membrane (GO:0031901), endosome (GO:0005768), membrane (GO:0016020), retromer complex (GO:0030904), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
intracellular protein localization2
binding2
cytoplasm2
cellular anatomical structure2
endomembrane system2
protein transport1
intracellular transport1
retrograde transport, endosome to Golgi1
Golgi vesicle transport1
transport1
establishment of protein localization1
intercellular transport1
endosomal transport1
cytosolic transport1
anion binding1
protein binding1
early endosome1
endosome membrane1
cytoplasmic vesicle1
membrane protein complex1
intracellular vesicle1

Protein interactions and networks

STRING

962 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SNX8SNX3O60493794
SNX8SNX1Q13596754
SNX8PIK3C3Q8NEB9683
SNX8VPS35Q96QK1666
SNX8SNX5Q9Y5X3651
SNX8SNX32Q86XE0643
SNX8SNX6Q9UNH7623
SNX8DCHS1Q96JQ0616
SNX8SNX12Q9UMY4607
SNX8VPS26AO75436547
SNX8SNX15Q9NRS6543
SNX8SNX4O95219542
SNX8VPS29Q9UBQ0535
SNX8SNX17Q15036533
SNX8SNX27Q96L92527

IntAct

56 interactions, top by confidence:

ABTypeScore
POLR3GLPOLR3Apsi-mi:“MI:0914”(association)0.730
SNX8PORpsi-mi:“MI:0914”(association)0.640
GYPATCAF2psi-mi:“MI:0914”(association)0.640
REEP6SNX8psi-mi:“MI:0915”(physical association)0.560
RABAC1SNX8psi-mi:“MI:0915”(physical association)0.560
ARL6IP1SNX8psi-mi:“MI:0915”(physical association)0.560
C14orf119SNX8psi-mi:“MI:0915”(physical association)0.560
AKT3HSP90AA1psi-mi:“MI:0914”(association)0.560
RXRGNR2F6psi-mi:“MI:0914”(association)0.530
CFPB3GLCTpsi-mi:“MI:0914”(association)0.530
NFIL3STK40psi-mi:“MI:0914”(association)0.530
WLSCHRNB1psi-mi:“MI:0914”(association)0.530
BSGBTAF1psi-mi:“MI:0914”(association)0.530
LPAR1TMEM223psi-mi:“MI:0914”(association)0.530
Dlg4SNX8psi-mi:“MI:0407”(direct interaction)0.440
ABL1SNX8psi-mi:“MI:0915”(physical association)0.400
FYNSNX8psi-mi:“MI:0915”(physical association)0.400
SNX8GRB2psi-mi:“MI:0915”(physical association)0.400
SNX8NCK1psi-mi:“MI:0915”(physical association)0.400
SNX8PIK3R1psi-mi:“MI:0915”(physical association)0.400
SNX8MYDGFpsi-mi:“MI:0915”(physical association)0.400
SNX8MAVSpsi-mi:“MI:0915”(physical association)0.400
SNX8SNX8psi-mi:“MI:0915”(physical association)0.400
SNX9SNX8psi-mi:“MI:0915”(physical association)0.400
SNX18SNX8psi-mi:“MI:0915”(physical association)0.400
SNX33SNX8psi-mi:“MI:0915”(physical association)0.400

BioGRID (55): SNX8 (Affinity Capture-RNA), SNX8 (Affinity Capture-RNA), SNX8 (Affinity Capture-RNA), MSH3 (Co-fractionation), SNX8 (Co-fractionation), SNX8 (Affinity Capture-MS), FBXW7 (Affinity Capture-MS), POR (Affinity Capture-MS), RUFY1 (Affinity Capture-MS), SNX8 (Affinity Capture-MS), LACC1 (Affinity Capture-MS), SNX8 (Affinity Capture-MS), SNX8 (Affinity Capture-MS), SNX8 (Two-hybrid), REEP6 (Two-hybrid)

ESM2 similar proteins: A5PK26, F8VPU2, O14526, O14976, O15068, O75064, O94887, P00530, P97874, P98150, P98171, Q00653, Q15027, Q15149, Q2HJE1, Q2KHV6, Q3TBD2, Q3U1Y4, Q4LDD4, Q5FVC7, Q5RB40, Q5RC07, Q5U464, Q5ZK62, Q61210, Q64096, Q6DE55, Q6IVG4, Q6P730, Q6ZQK5, Q6ZSZ5, Q8CFD4, Q8K285, Q8K2H4, Q8R5G7, Q8TDY4, Q8WWN8, Q91VS8, Q91ZR2, Q92619

Diamond homologs: A0A1B7YDZ4, I1RXT2, O14243, O60107, O60493, O70492, O70493, P0CR58, P0CR59, P0CR60, P0CR61, P0CR62, P0CR63, P40959, P47057, Q08826, Q08DD7, Q1RMH8, Q2U4K2, Q2UB56, Q3MPQ4, Q4I1H6, Q4P1V3, Q4PHC3, Q4WQI6, Q4WWS3, Q4WZF1, Q522W5, Q5A748, Q5B797, Q5H7C3, Q5R5V1, Q5U211, Q6C2S9, Q6CTQ0, Q6CUC4, Q6FNH2, Q6FPT9, Q6FT03, Q75C43

SIGNOR signaling

3 interactions.

AEffectBMechanism
JAK1“up-regulates activity”SNX8phosphorylation
SNX8“up-regulates activity”IKBKBbinding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 62 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
VEGFA-VEGFR2 Pathway516.6×3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

113 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance93
Likely benign5
Benign4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2649 predictions. Top by Δscore:

VariantEffectΔscore
7:2256869:CTCA:Cdonor_loss1.0000
7:2256870:TCA:Tdonor_loss1.0000
7:2256871:CACCT:Cdonor_loss1.0000
7:2256872:A:ACdonor_gain1.0000
7:2256872:ACCT:Adonor_gain1.0000
7:2256872:ACCTC:Adonor_gain1.0000
7:2256873:C:CCdonor_gain1.0000
7:2256873:C:CGdonor_loss1.0000
7:2256873:CCT:Cdonor_gain1.0000
7:2256873:CCTC:Cdonor_gain1.0000
7:2256873:CCTCC:Cdonor_gain1.0000
7:2256875:T:TAdonor_gain1.0000
7:2257021:CTG:Cacceptor_gain1.0000
7:2257024:C:CCacceptor_gain1.0000
7:2257730:CTCA:Cdonor_loss1.0000
7:2257731:TCA:Tdonor_loss1.0000
7:2257732:CA:Cdonor_loss1.0000
7:2257733:ACCTT:Adonor_loss1.0000
7:2264294:CTAC:Cdonor_loss1.0000
7:2264295:TA:Tdonor_loss1.0000
7:2264296:A:ACdonor_gain1.0000
7:2264296:ACC:Adonor_loss1.0000
7:2264297:C:CCdonor_gain1.0000
7:2264463:CATCA:Cacceptor_gain1.0000
7:2264466:C:CTacceptor_gain1.0000
7:2264467:A:ACacceptor_gain1.0000
7:2264467:A:Cacceptor_gain1.0000
7:2264467:A:Tacceptor_gain1.0000
7:2264470:A:ACacceptor_gain1.0000
7:2264470:A:Cacceptor_gain1.0000

AlphaMissense

3053 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:2271947:C:AR148M1.000
7:2275206:T:AR108S1.000
7:2275206:T:GR108S1.000
7:2275207:C:GR108T1.000
7:2257510:A:GL330P0.999
7:2271947:C:GR148T0.999
7:2275125:C:AK135N0.999
7:2275125:C:GK135N0.999
7:2275191:G:CF113L0.999
7:2275191:G:TF113L0.999
7:2275192:A:GF113S0.999
7:2275193:A:GF113L0.999
7:2275202:A:CY110D0.999
7:2275207:C:AR108I0.999
7:2278117:A:GY95H0.999
7:2278126:G:CH92D0.999
7:2271935:A:GL152P0.998
7:2271946:C:AR148S0.998
7:2271946:C:GR148S0.998
7:2275127:T:CK135E0.998
7:2275150:C:GR127P0.998
7:2275195:T:CD112G0.998
7:2275202:A:GY110H0.998
7:2275208:T:CR108G0.998
7:2278124:A:CH92Q0.998
7:2278124:A:TH92Q0.998
7:2278134:A:GF89S0.998
7:2255157:A:GW433R0.997
7:2255157:A:TW433R0.997
7:2257501:C:GR333P0.997

dbSNP variants (sampled 300 via entrez): RS1000000608 (7:2261182 C>A,T), RS1000025529 (7:2303111 G>A,C,T), RS1000026037 (7:2317303 G>A,C,T), RS1000043891 (7:2334328 G>A), RS1000051263 (7:2261337 G>T), RS1000056511 (7:2302909 C>T), RS1000111110 (7:2324511 G>A), RS1000124580 (7:2330567 A>G), RS1000140057 (7:2335793 A>G), RS1000155480 (7:2330804 TC>T), RS1000186507 (7:2264292 A>G,T), RS1000193484 (7:2320676 A>G), RS1000223243 (7:2320427 T>C,G), RS1000230223 (7:2295858 T>C), RS1000290544 (7:2286070 G>A)

Disease associations

OMIM: gene MIM:614905 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

9 associations (top):

StudyTraitp-value
GCST001565_9Schizophrenia2.000000e-09
GCST002149_3Schizophrenia6.000000e-13
GCST004521_264Autism spectrum disorder or schizophrenia7.000000e-16
GCST005759_5Dimensional psychopathology (Social)2.000000e-07
GCST005934_1Neuropathic pain in head and neck cancer3.000000e-14
GCST006612_114LDL cholesterol1.000000e-08
GCST010653_13Thyroid stimulating hormone levels8.000000e-09
GCST90002395_496Mean platelet volume2.000000e-12
GCST90002403_192Red blood cell count3.000000e-09

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0009100social domain measurement
EFO:0005762neuropathic pain
EFO:0004611low density lipoprotein cholesterol measurement
EFO:0004305erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

50 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases methylation, affects expression, increases expression3
bisphenol Adecreases expression, decreases methylation2
Nickelincreases expression2
Cyclosporineincreases expression2
aristolochic acid Iincreases expression1
FR900359affects phosphorylation1
dicrotophosincreases expression1
2,4,6-tribromophenolincreases expression1
alpha-pineneincreases abundance, affects cotreatment, increases expression1
2,5,2’,5’-tetrachlorobiphenylincreases expression1
decabromobiphenyl etherincreases expression1
sodium arseniteincreases expression1
butyraldehydeincreases expression1
tetrabromobisphenol Aincreases expression1
potassium chromate(VI)affects cotreatment, decreases expression1
aflatoxin B2increases methylation1
cupric oxideincreases expression1
methacrylaldehydeincreases abundance, affects cotreatment, increases expression1
isobutyl alcoholaffects cotreatment, decreases expression, increases abundance1
epigallocatechin gallatedecreases expression, affects cotreatment1
di-n-butylphosphoric acidaffects expression1
ICG 001decreases expression1
abrineincreases expression1
2,2’,4,4’-tetrabromodiphenyl etherincreases expression1
pentabrominated diphenyl ether 100decreases expression1
hexabrominated diphenyl ether 153decreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic aciddecreases expression1
Fulvestrantincreases methylation1
Acroleinaffects cotreatment, increases expression, increases abundance1
Air Pollutantsaffects cotreatment, increases abundance, increases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.