SNX6

Summary

SNX6 (sorting nexin 6, HGNC:14970) is a protein-coding gene on chromosome 14q13.1, encoding Sorting nexin-6 (Q9UNH7). Involved in several stages of intracellular trafficking.

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms.

Source: NCBI Gene 58533 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 51 total
• MANE Select transcript: NM_152233

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14970
Approved symbol	SNX6
Name	sorting nexin 6
Location	14q13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000129515
Ensembl biotype	protein_coding
OMIM	606098
Entrez	58533

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 13 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron

ENST00000362031, ENST00000396526, ENST00000555416, ENST00000555541, ENST00000555648, ENST00000556162, ENST00000556303, ENST00000556712, ENST00000557265, ENST00000557341, ENST00000652385, ENST00000882736, ENST00000882737, ENST00000882738, ENST00000882739, ENST00000882740, ENST00000882741, ENST00000916792, ENST00000948270

RefSeq mRNA: 3 — MANE Select: NM_152233 NM_001366519, NM_021249, NM_152233

CCDS: CCDS41942, CCDS9648

Canonical transcript exons

ENST00000362031 — 14 exons

Exon	Start	End
ENSE00001882594	34561093	34563175
ENSE00001919461	34630111	34630148
ENSE00003514812	34575756	34575842
ENSE00003523616	34593045	34593150
ENSE00003530217	34567854	34568013
ENSE00003603403	34605596	34605717
ENSE00003621078	34609638	34609742
ENSE00003624918	34567686	34567771
ENSE00003628247	34603348	34603471
ENSE00003631737	34581561	34581600
ENSE00003656748	34608030	34608140
ENSE00003662990	34597550	34597645
ENSE00003689164	34629907	34629954
ENSE00003786899	34586230	34586305

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.2531 / max 997.1908, expressed in 1814 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142791	45.6490	1814
142792	1.6041	1076

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	98.82	gold quality
jejunal mucosa	UBERON:0000399	98.81	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.70	gold quality
ileal mucosa	UBERON:0000331	98.53	gold quality
upper arm skin	UBERON:0004263	98.17	gold quality
myocardium	UBERON:0002349	98.10	gold quality
adrenal tissue	UBERON:0018303	98.01	gold quality
superficial temporal artery	UBERON:0001614	97.83	gold quality
placenta	UBERON:0001987	97.75	gold quality
kidney epithelium	UBERON:0004819	97.66	gold quality
tibialis anterior	UBERON:0001385	97.53	gold quality
corpus callosum	UBERON:0002336	97.51	gold quality
nasal cavity epithelium	UBERON:0005384	97.35	gold quality
duodenum	UBERON:0002114	97.34	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.34	gold quality
colonic mucosa	UBERON:0000317	97.17	gold quality
jejunum	UBERON:0002115	96.86	gold quality
subthalamic nucleus	UBERON:0001906	96.64	gold quality
decidua	UBERON:0002450	96.58	gold quality
heart right ventricle	UBERON:0002080	96.53	gold quality
palpebral conjunctiva	UBERON:0001812	96.48	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.47	gold quality
spinal cord	UBERON:0002240	96.45	gold quality
ventricular zone	UBERON:0003053	96.42	gold quality
calcaneal tendon	UBERON:0003701	96.40	gold quality
skin of hip	UBERON:0001554	96.37	gold quality
inferior vagus X ganglion	UBERON:0005363	96.32	gold quality
deltoid	UBERON:0001476	96.26	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.22	gold quality
pons	UBERON:0000988	96.20	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ENAD-17	no	381.73
E-MTAB-8060	no	221.70
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 10)

• SNX5 and SNX6 may constitute functional equivalents of Vps17p in mammalian retromer (PMID:17148574)
• These observations indicate that in addition to SNX1/2, SNX6 in association with the dynein/dynactin complex drives the formation and movement of tubular retrograde intermediates. (PMID:19935774)
• SNX6 modulates the retrograde trafficking and basal levels of BACE1, thereby regulating BACE1-mediated APP processing and Abeta biogenesis (PMID:20354142)
• Study observed that SNX6 increases BRMS1-dependent transcriptional repression. Moreover, over-expression of SNX6 was capable of diminishing trans-activation in a dose-dependent manner. (PMID:20830743)
• These results identify SNX6 as a key regulator of lamin A synthesis and incorporation into the nuclear envelope. (PMID:25535984)
• study confirms the utility of proximity-labeling methods, such as BioID, to screen for interactors of cell-surface receptors and has uncovered a role of one of these interactors, SNX6, in the IGF1R signaling cascade. (PMID:29530981)
• Data indicate that sorting nexin 6 (SNX6) serves as a biomarker for predicting prognosis of pancreatic cancer. (PMID:30307473)
• The data imply that Rab32 is linked to SNX6/retromer trafficking at the Golgi, and also suggests a possible connection between the retromer and Rab32 in the trafficking and biological functions of LRRK2. (PMID:30640902)
• The studies identify a sorting motif and provide molecular insight into an evolutionary conserved coat complex, the ‘Endosomal SNX-BAR sorting complex for promoting exit 1’ (ESCPE-1), which couples sorting motif recognition to the BAR-domain-mediated biogenesis of cargo-enriched tubulo-vesicular transport carriers. (PMID:31576058)
• Sorting nexin 6 interacts with Cullin3 and regulates programmed death ligand 1 expression. (PMID:34510437)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	snx6	ENSDARG00000058444
mus_musculus	Snx6	ENSMUSG00000005656
rattus_norvegicus	Snx6	ENSRNOG00000005249

Paralogs (15): SNX11 (ENSG00000002919), SNX1 (ENSG00000028528), SNX10 (ENSG00000086300), SNX5 (ENSG00000089006), SNX8 (ENSG00000106266), SNX3 (ENSG00000112335), SNX4 (ENSG00000114520), SNX9 (ENSG00000130340), SNX12 (ENSG00000147164), SNX30 (ENSG00000148158), SNX7 (ENSG00000162627), SNX32 (ENSG00000172803), SNX33 (ENSG00000173548), SNX18 (ENSG00000178996), SNX2 (ENSG00000205302)

Protein

Protein identifiers

Sorting nexin-6 — Q9UNH7 (reviewed: Q9UNH7)

Alternative names: TRAF4-associated factor 2

All UniProt accessions (8): Q9UNH7, A0A0A0MRI2, G3V2U1, G3V4Z5, G3V589, G3V5U2, G3V5X9, H0YJF8

UniProt curated annotations — full annotation on UniProt →

Function. Involved in several stages of intracellular trafficking. Interacts with membranes phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate. Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC). Does not have in vitro vesicle-to-membrane remodeling activity. Involved in retrograde endosome-to-TGN transport of lysosomal enzyme receptor IGF2R. May function as link between transport vesicles and dynactin. Negatively regulates retrograde transport of BACE1 from the cell surface to the trans-Golgi network. Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation. In association with GIT1 involved in EGFR degradation. Promotes lysosomal degradation of CDKN1B. May contribute to transcription regulation.

Subunit / interactions. Forms heterodimers with BAR domain-containing sorting nexins SNX1 and SNX2. Interacts with SNX32. The heterodimers are proposed to self-assemble into helical arrays on the membrane to stabilize and expand local membrane curvature underlying endosomal tubule formation. Thought to be a component of the originally described retromer complex (also called SNX-BAR retromer) which is a pentamer containing the heterotrimeric retromer cargo-selective complex (CSC), also described as vacuolar protein sorting subcomplex (VPS), and a heterodimeric membrane-deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity. Interacts with SNX1, SNX2, VPS26A, VPS29, VPS35, CDKN1B, TGFB receptors, BACE1, BRMS1, PIP5K1C isoform 3. Interacts with DCTN1; the association with DCTN1 is involved in movement of retromer-c ontaining vesicles toward the TGN. Interacts with CDKN1B and GIT1. Interacts with PIM1; translocating SNX6 to the nucleus.

Subcellular location. Early endosome. Early endosome membrane. Cytoplasmic vesicle. Cytoplasm. Nucleus.

Post-translational modifications. In vitro phosphorylated by PIM1; not affecting PIM1-dependent nuclear translocation.

Domain organisation. The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate. The BAR domain is able to sense membrane curvature upon dimerization. Membrane remodeling seems to implicate insertion of an amphipathic helix (AH) in the membrane.

Similarity. Belongs to the sorting nexin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UNH7-1	1	yes
Q9UNH7-2	2

RefSeq proteins (3): NP_001353448, NP_067072, NP_689419* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001683	PX_dom	Domain
IPR014637	SNX5/SNX6/SNX32	Family
IPR015404	Vps5_C	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR028657	BAR_SNX6	Domain
IPR036871	PX_dom_sf	Homologous_superfamily
IPR042136	PX_SNX6	Domain

Pfam: PF00787, PF09325

UniProt features (18 total): modified residue 4, mutagenesis site 3, binding site 3, chain 2, domain 2, region of interest 2, initiator methionine 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UNH7-F1	89.14	0.72

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): 41–47; 100–106; 114–117

Post-translational modifications (4): 1, 2, 116, 194

Mutagenesis-validated functional residues (3):

Position	Phenotype
68	reduces interaction with snx1. abolishes location at endosome membranes.
69	no effect on subcellular location.
97	no effect on subcellular location.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 251 (showing top): GOBP_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, GOBP_ENDOSOME_ORGANIZATION, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_INFLAMMATORY_RESPONSE, MODULE_151, GOBP_VESICLE_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_ERBB_SIGNALING_PATHWAY

GO Biological Process (11): intracellular protein transport (GO:0006886), negative regulation of epidermal growth factor-activated receptor activity (GO:0007175), regulation of macroautophagy (GO:0016241), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), retrograde transport, endosome to Golgi (GO:0042147), negative regulation of neuron apoptotic process (GO:0043524), negative regulation of DNA-templated transcription (GO:0045892), cellular response to epidermal growth factor stimulus (GO:0071364), regulation of postsynaptic membrane neurotransmitter receptor levels (GO:0099072), cellular response to amyloid-beta (GO:1904646), protein transport (GO:0015031)

GO Molecular Function (6): dynactin binding (GO:0034452), type I transforming growth factor beta receptor binding (GO:0034713), phosphatidylinositol binding (GO:0035091), protein homodimerization activity (GO:0042803), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (14): nucleus (GO:0005634), cytoplasm (GO:0005737), lysosome (GO:0005764), endosome (GO:0005768), cytosol (GO:0005829), retromer complex (GO:0030904), retromer, tubulation complex (GO:0030905), early endosome membrane (GO:0031901), tubular endosome (GO:0097422), postsynaptic early endosome (GO:0098842), glutamatergic synapse (GO:0098978), early endosome (GO:0005769), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular protein localization	2
binding	2
endomembrane system	2
cytoplasm	2
membrane protein complex	2
early endosome	2
endosome	2
protein transport	1
intracellular transport	1
epidermal growth factor receptor activity	1
negative regulation of epidermal growth factor receptor signaling pathway	1
negative regulation of protein tyrosine kinase activity	1
negative regulation of signaling receptor activity	1
regulation of autophagy	1
macroautophagy	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
intercellular transport	1
endosomal transport	1
cytosolic transport	1
negative regulation of apoptotic process	1
regulation of neuron apoptotic process	1
neuron apoptotic process	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
response to epidermal growth factor	1
cellular response to growth factor stimulus	1
regulation of biological quality	1
cellular response to nitrogen compound	1
cellular response to oxygen-containing compound	1
response to amyloid-beta	1
transport	1
establishment of protein localization	1
cytoskeletal protein binding	1
transforming growth factor beta receptor binding	1
anion binding	1
identical protein binding	1

Protein interactions and networks

STRING

1246 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SNX6	SNX1	Q13596	992
SNX6	SNX2	P82862	992
SNX6	SNX5	Q9Y5X3	984
SNX6	VPS29	Q9UBQ0	969
SNX6	VPS35	Q96QK1	964
SNX6	SNX3	O60493	959
SNX6	VPS26A	O75436	941
SNX6	SNX4	O95219	910
SNX6	DCTN1	Q14203	908
SNX6	SNX27	Q96L92	861
SNX6	SERPINE2	P07093	839
SNX6	IFT122	Q9HBG6	821
SNX6	SNX12	Q9UMY4	774
SNX6	IGF2R	P11717	721
SNX6	SNX32	Q86XE0	712

IntAct

157 interactions, top by confidence:

A	B	Type	Score
SNX6	SNX1	psi-mi:“MI:0914”(association)	0.880
SNX1	SNX6	psi-mi:“MI:0915”(physical association)	0.880
SNX6	SNX1	psi-mi:“MI:0915”(physical association)	0.880
SNX2	SNX6	psi-mi:“MI:0915”(physical association)	0.800
SNX6	SNX2	psi-mi:“MI:0914”(association)	0.800
SNX1	SNX2	psi-mi:“MI:0914”(association)	0.740
SNX32	SNX2	psi-mi:“MI:0914”(association)	0.740
USP46	PHLPP1	psi-mi:“MI:0914”(association)	0.740
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
TSPYL1	PCM1	psi-mi:“MI:0914”(association)	0.640
TSPYL6	USP12	psi-mi:“MI:0914”(association)	0.640
incE	SNX6	psi-mi:“MI:0915”(physical association)	0.610
incE	SNX6	psi-mi:“MI:0407”(direct interaction)	0.610
SNX6	incE	psi-mi:“MI:0403”(colocalization)	0.610
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
incE	Snx5	psi-mi:“MI:0403”(colocalization)	0.570
TEX11	SNX6	psi-mi:“MI:0915”(physical association)	0.560
APP	SNX6	psi-mi:“MI:0915”(physical association)	0.560
SNRNP27	UBA6	psi-mi:“MI:0914”(association)	0.530

BioGRID (320): SNX6 (Two-hybrid), BRMS1 (Reconstituted Complex), BRMS1 (FRET), SNX6 (Reconstituted Complex), SNX6 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX6 (Co-fractionation)

ESM2 similar proteins: A0A1B7YDZ4, B1H267, I1RXT2, O14243, O60107, O74960, O94447, P0CR58, P0CR59, P0CR62, P0CR63, P0CR64, P0CR65, P32912, P32913, P40531, P40959, P47057, Q09746, Q10253, Q28GP7, Q3ZBM5, Q4PHC3, Q4VAA7, Q4WQI6, Q522W5, Q5B797, Q5R613, Q6C238, Q6C9X0, Q6CGJ5, Q6CHY6, Q6CTQ0, Q6CUC4, Q6FPT9, Q6NRL2, Q6P8X1, Q759T1, Q75B65, Q75C43

Diamond homologs: B1H267, Q3ZBM5, Q4V7P7, Q5R613, Q6P8X1, Q80ZJ7, Q86XE0, Q9D8U8, Q9UNH7, Q9Y5X3, B9DFS6

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SNX6	“down-regulates quantity”	IGF2R	binding
SNX6	“down-regulates quantity”	IGF1R	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 148 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:

Pathway	Partners	Fold	FDR
trans-Golgi Network Vesicle Budding	6	15.9×	1e-03
Membrane Trafficking	12	4.6×	3e-03
Vesicle-mediated transport	12	4.3×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein transport	14	4.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2270 predictions. Top by Δscore:

Variant	Effect	Δscore
14:34563173:ACCC:A	acceptor_loss	1.0000
14:34563174:CC:C	acceptor_gain	1.0000
14:34563175:CC:C	acceptor_gain	1.0000
14:34563175:CCT:C	acceptor_loss	1.0000
14:34563176:C:CC	acceptor_gain	1.0000
14:34567768:AGTT:A	acceptor_gain	1.0000
14:34567769:GTT:G	acceptor_gain	1.0000
14:34567770:TT:T	acceptor_gain	1.0000
14:34567772:C:CC	acceptor_gain	1.0000
14:34567772:C:T	acceptor_loss	1.0000
14:34567774:G:C	acceptor_gain	1.0000
14:34575751:ATTAC:A	donor_loss	1.0000
14:34575752:TTAC:T	donor_loss	1.0000
14:34575753:TA:T	donor_loss	1.0000
14:34575755:CCTTA:C	donor_loss	1.0000
14:34575838:ATTTT:A	acceptor_gain	1.0000
14:34575839:TTTT:T	acceptor_gain	1.0000
14:34575840:TTT:T	acceptor_gain	1.0000
14:34575841:TT:T	acceptor_gain	1.0000
14:34575842:TC:T	acceptor_loss	1.0000
14:34575843:C:CC	acceptor_gain	1.0000
14:34575843:CT:C	acceptor_loss	1.0000
14:34586228:A:AC	donor_gain	1.0000
14:34586229:C:CC	donor_gain	1.0000
14:34586229:CTTG:C	donor_gain	1.0000
14:34593038:ATCTT:A	donor_loss	1.0000
14:34593039:TCTTA:T	donor_loss	1.0000
14:34593040:CTTA:C	donor_loss	1.0000
14:34593041:TTA:T	donor_loss	1.0000
14:34593042:TA:T	donor_loss	1.0000

AlphaMissense

2681 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:34567746:T:A	R369S	1.000
14:34567746:T:G	R369S	1.000
14:34567747:C:G	R369T	1.000
14:34567768:A:G	L362P	1.000
14:34567863:C:G	A358P	1.000
14:34567955:A:G	L327P	1.000
14:34567968:C:G	A323P	1.000
14:34567985:A:G	L317P	1.000
14:34567996:C:A	R313S	1.000
14:34567996:C:G	R313S	1.000
14:34567997:C:A	R313M	1.000
14:34567997:C:G	R313T	1.000
14:34568000:C:G	R312P	1.000
14:34568009:A:G	L309P	1.000
14:34575760:G:T	A306D	1.000
14:34575804:T:A	K291N	1.000
14:34575804:T:G	K291N	1.000
14:34575808:A:G	L290P	1.000
14:34575808:A:T	L290H	1.000
14:34603364:A:C	L167W	1.000
14:34603364:A:G	L167S	1.000
14:34603366:G:C	F166L	1.000
14:34603366:G:T	F166L	1.000
14:34603367:A:G	F166S	1.000
14:34603368:A:G	F166L	1.000
14:34603415:C:G	R150P	1.000
14:34603421:A:C	L148R	1.000
14:34603421:A:G	L148P	1.000
14:34603421:A:T	L148Q	1.000
14:34603423:G:C	F147L	1.000

dbSNP variants (sampled 300 via entrez): RS1000023701 (14:34618103 C>T), RS1000028236 (14:34584668 C>G), RS1000053685 (14:34577007 G>A,T), RS1000068687 (14:34596212 G>A), RS1000079788 (14:34623275 A>G), RS1000115399 (14:34623932 T>A,C), RS1000173779 (14:34580384 C>T), RS1000186380 (14:34622749 A>G), RS1000253237 (14:34612792 G>A), RS1000269946 (14:34614235 T>C), RS1000319459 (14:34614058 G>A), RS1000346132 (14:34567244 T>C), RS1000377753 (14:34563646 T>C), RS1000420184 (14:34596445 C>T), RS1000484883 (14:34568589 A>G)

Disease associations

OMIM: gene MIM:606098 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002112_10	Celiac disease	4.000000e-06
GCST006061_58	Atrial fibrillation	1.000000e-13
GCST006630_43	Diastolic blood pressure	4.000000e-10
GCST007448_6	Normal facial asymmetry (angle of surface orientation score)	3.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0009751	facial asymmetry measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, affects expression, increases abundance	3
bisphenol A	decreases expression, increases expression	2
sodium arsenite	decreases expression, increases expression	2
Benzo(a)pyrene	increases methylation, increases expression	2
Valproic Acid	decreases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
uranyl acetate	affects expression	1
pyrogallol 1,3-dimethyl ether	decreases expression, affects localization, affects cotreatment	1
salinomycin	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Atrazine	increases expression	1
Clozapine	increases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Fluorouracil	affects response to substance	1
Furaldehyde	affects localization, increases expression, affects cotreatment, decreases expression	1
Gold	decreases expression	1
Ivermectin	decreases expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression, increases abundance	1
Sodium Chloride	affects cotreatment, decreases expression, affects localization, increases expression	1
Uranium	affects expression	1
Vitamin E	increases expression	1
Antirheumatic Agents	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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