SEPTIN8

Summary

SEPTIN8 (septin 8, HGNC:16511) is a protein-coding gene on chromosome 5q31.1, encoding Septin-8 (Q92599). Filament-forming cytoskeletal GTPase.

This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 23176 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 77 total
• Druggable target: yes
• MANE Select transcript: NM_001098811

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16511
Approved symbol	SEPTIN8
Name	septin 8
Location	5q31.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0202, SEP2, Septin-8
Ensembl gene	ENSG00000164402
Ensembl biotype	protein_coding
OMIM	608418
Entrez	23176

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 14 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000296873, ENST00000371478, ENST00000371493, ENST00000378699, ENST00000378701, ENST00000378706, ENST00000378719, ENST00000378721, ENST00000414594, ENST00000448933, ENST00000453480, ENST00000458488, ENST00000481030, ENST00000481794, ENST00000492490, ENST00000620483, ENST00000877955, ENST00000971496

RefSeq mRNA: 6 — MANE Select: NM_001098811 NM_001098811, NM_001098812, NM_001098813, NM_001300798, NM_001300799, NM_015146

CCDS: CCDS43358, CCDS43359, CCDS43360, CCDS47262, CCDS75298

Canonical transcript exons

ENST00000378719 — 10 exons

Exon	Start	End
ENSE00001084086	132761800	132761896
ENSE00001084089	132761458	132761626
ENSE00001084091	132760802	132760992
ENSE00001084092	132761133	132761265
ENSE00001478490	132750819	132752181
ENSE00003469954	132764224	132764419
ENSE00003513995	132763706	132763892
ENSE00003602113	132762484	132762645
ENSE00003603056	132765409	132765529
ENSE00003850599	132777108	132777239

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.5866 / max 1226.6424, expressed in 1774 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
63355	23.7723	1748
63358	2.2083	1218
63357	1.8018	1029
63356	1.2892	689
63354	1.2737	588
63352	0.6399	221
63353	0.4423	183
63363	0.3401	124
63361	0.2769	68
63359	0.2551	95

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	99.73	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.62	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.59	gold quality
spinal cord	UBERON:0002240	99.33	gold quality
endothelial cell	CL:0000115	99.15	gold quality
corpus callosum	UBERON:0002336	99.02	gold quality
inferior vagus X ganglion	UBERON:0005363	98.99	gold quality
postcentral gyrus	UBERON:0002581	98.87	gold quality
entorhinal cortex	UBERON:0002728	98.74	gold quality
subthalamic nucleus	UBERON:0001906	98.55	gold quality
parietal lobe	UBERON:0001872	98.51	gold quality
primary visual cortex	UBERON:0002436	98.47	gold quality
right frontal lobe	UBERON:0002810	98.47	gold quality
substantia nigra	UBERON:0002038	98.42	gold quality
superior frontal gyrus	UBERON:0002661	98.42	gold quality
Ammon’s horn	UBERON:0001954	98.39	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.38	gold quality
cerebellar hemisphere	UBERON:0002245	98.33	gold quality
medial globus pallidus	UBERON:0002477	98.33	gold quality
midbrain	UBERON:0001891	98.32	gold quality
inferior olivary complex	UBERON:0002127	98.32	gold quality
temporal lobe	UBERON:0001871	98.29	gold quality
cerebellar cortex	UBERON:0002129	98.28	gold quality
amygdala	UBERON:0001876	98.26	gold quality
medulla oblongata	UBERON:0001896	98.19	gold quality
putamen	UBERON:0001874	98.18	gold quality
prefrontal cortex	UBERON:0000451	98.17	gold quality
caudate nucleus	UBERON:0001873	98.15	gold quality
globus pallidus	UBERON:0001875	98.05	gold quality
pons	UBERON:0000988	97.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

76 targeting SEPTIN8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-154-3P	99.50	70.05	831
HSA-MIR-487A-3P	99.50	69.95	840
HSA-MIR-4325	99.49	72.20	1342

Literature-anchored findings (GeneRIF, showing 7)

• SEPT8 and SEPT4 are localized surrounding alpha-granules. Activation of platelets by agonists resulted in the translocation of SEPT4 and SEPT8 to the platelet surface indicating a possible functional role of these proteins in platelet granular secretion (PMID:15116257)
• We studied the assembly of three human septins, SEPT4, SEPT5 and SEPT8, with each other (heterotypic) and with themselves (homotypic) using a yeast two-hybrid system. (PMID:15214843)
• Our finding suggests a role for members of the septin family in the development of proliferative retinal membranes. (PMID:17625225)
• Cloning, overexpression, purification and preliminary characterization of human septin 8. Fluorescence emission spectra, analytic gel filtration and DLS reflect the sample oligomeric heterogeneity with the predominance of dimers in solution. (PMID:20544379)
• SEPT8 modulates beta-amyloidogenic processing of APP through a mechanism affecting the intracellular sorting and accumulation of BACE1. (PMID:27084579)
• Sept8/SEPTIN8 involvement in cellular structure and kidney damage is identified by genetic mapping and a novel human tubule hypoxic model. (PMID:33483609)
• Palmitoylated Sept8-204 modulates learning and anxiety by regulating filopodia arborization and actin dynamics. (PMID:38051778)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	septin8b	ENSDARG00000014233
danio_rerio	septin8a	ENSDARG00000032606
mus_musculus	Septin8	ENSMUSG00000018398
rattus_norvegicus	Septin8	ENSRNOG00000007462
drosophila_melanogaster	Septin2	FBGN0014029
caenorhabditis_elegans		WBGENE00006795

Paralogs (12): SEPTIN3 (ENSG00000100167), SEPTIN7 (ENSG00000122545), SEPTIN6 (ENSG00000125354), SEPTIN11 (ENSG00000138758), SEPTIN12 (ENSG00000140623), SEPTIN14 (ENSG00000154997), SEPTIN2 (ENSG00000168385), SEPTIN1 (ENSG00000180096), SEPTIN9 (ENSG00000184640), SEPTIN5 (ENSG00000184702), SEPTIN10 (ENSG00000186522), TMEM250 (ENSG00000238227)

Protein

Protein identifiers

Septin-8 — Q92599 (reviewed: Q92599)

All UniProt accessions (8): A0A087X142, A0A0A0MRP8, A6NFQ9, A6NMH6, C9J4G8, C9JV02, Q92599, F8W8I8

UniProt curated annotations — full annotation on UniProt →

Function. Filament-forming cytoskeletal GTPase. May play a role in platelet secretion. Seems to participate in the process of SNARE complex formation in synaptic vesicles. Stabilizes BACE1 protein levels and promotes the sorting and accumulation of BACE1 to the recycling or endosomal compartments, modulating the beta-amyloidogenic processing of APP.

Subunit / interactions. Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation. Interacts with CDK14. Interacts with SEPTIN5. Interacts with SEPTIN7. Interacts with SEPTIN4. Interacts with VAMP2; the interaction inhibits interaction of VAMP2 with SYP. Interacts with STX1A.

Subcellular location. Cytoplasm. Cytoskeleton. Synapse. Cell projection. Axon. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Presynapse.

Tissue specificity. Widely expressed, including in brain, heart and platelets; most abundant in aorta. Isoform 2 is expressed at low levels in specific brain areas, such as occipital pole, frontal lobe, temporal lobe and putamen. Isoform 1 and 3 are highly expressed in specific brain areas, such as occipital pole, frontal lobe, temporal lobe and putamen. Isoform 2 is highly expressed in prostate, testis and ovary. Isoform 1 and isoform 3 are expressed at low levels in prostate, testis and ovary.

Miscellaneous. KIAA0202a differs from KIAA0202c at the level of the 3’-UTR.

Similarity. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q92599-1	1, KIAA0202b, SEPT8_v2, SEPT8 TV1	yes
Q92599-2	2, KIAA0202a, SEPT8_v1, KIAA0202c, SEPT8_v1*, SEPT8 TV2
Q92599-3	3, KIAA0202d, SEPT8_v3, SEPT8 TV4
Q92599-4	4, SEPT8 TV3

RefSeq proteins (6): NP_001092281, NP_001092282, NP_001092283, NP_001287727, NP_001287728, NP_055961 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016491	Septin	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR030379	G_SEPTIN_dom	Domain

Pfam: PF00735

UniProt features (51 total): helix 12, strand 10, binding site 5, region of interest 5, splice variant 4, turn 4, compositionally biased region 3, modified residue 2, sequence conflict 2, initiator methionine 1, chain 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6UPR	X-RAY DIFFRACTION	2.3
6WSM	X-RAY DIFFRACTION	2.45

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92599-F1	76.77	0.38

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 (5): 51–58; 106; 187–195; 241; 256

Post-translational modifications (2): 2, 10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 252 (showing top): MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, MODULE_493, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, MARTINEZ_RB1_TARGETS_UP, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, GOBP_CYTOKINESIS, DOANE_RESPONSE_TO_ANDROGEN_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, GOBP_ORGANELLE_MEMBRANE_FUSION

GO Biological Process (5): intracellular protein localization (GO:0008104), regulation of protein stability (GO:0031647), regulation of intracellular protein transport (GO:0033157), regulation of SNARE complex assembly (GO:0035542), cytoskeleton-dependent cytokinesis (GO:0061640)

GO Molecular Function (5): GTPase activity (GO:0003924), GTP binding (GO:0005525), molecular adaptor activity (GO:0060090), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (13): septin ring (GO:0005940), microtubule cytoskeleton (GO:0015630), axon (GO:0030424), synaptic vesicle membrane (GO:0030672), septin complex (GO:0031105), cell division site (GO:0032153), presynapse (GO:0098793), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
binding	2
cytoskeleton	2
cell cortex	2
septin cytoskeleton	2
macromolecule localization	1
regulation of biological quality	1
intracellular protein transport	1
regulation of intracellular transport	1
regulation of protein transport	1
SNARE complex assembly	1
regulation of protein-containing complex assembly	1
cytokinesis	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
molecular_function	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
neuron projection	1
synaptic vesicle	1
exocytic vesicle membrane	1
protein-containing complex	1
synapse	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

744 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEPTIN8	SEPTIN4	O43236	921
SEPTIN8	SEPTIN7	Q16181	721
SEPTIN8	SEPTIN5	Q99719	705
SEPTIN8	VAMP2	P19065	661
SEPTIN8	PDE5A	O76074	604
SEPTIN8	SOCS4	Q8WXH5	587
SEPTIN8	CENPE	Q02224	581
SEPTIN8	SOCS7	O14512	571
SEPTIN8	SEC14L1	Q92503	542
SEPTIN8	ANLN	Q9NQW6	480
SEPTIN8	SLC1A3	P43003	460
SEPTIN8	KRTCAP3	Q53RY4	456
SEPTIN8	SPATC1L	Q9H0A9	447
SEPTIN8	ZNF248	Q8NDW4	429
SEPTIN8	SEPTIN2	Q15019	420

IntAct

90 interactions, top by confidence:

A	B	Type	Score
SEPTIN2	SEPTIN6	psi-mi:“MI:0914”(association)	0.950
SEPTIN6	SEPTIN2	psi-mi:“MI:0914”(association)	0.950
SEPTIN7	SEPTIN6	psi-mi:“MI:0914”(association)	0.850
SEPTIN12	SEPTIN6	psi-mi:“MI:0914”(association)	0.830
SEPTIN9	SEPTIN6	psi-mi:“MI:0914”(association)	0.800
SEPTIN3	SEPTIN6	psi-mi:“MI:0914”(association)	0.800
SEPTIN8	SEPTIN7	psi-mi:“MI:0915”(physical association)	0.740
SEPTIN5	SEPTIN8	psi-mi:“MI:0915”(physical association)	0.740
SEPTIN8	SEPTIN5	psi-mi:“MI:0915”(physical association)	0.740
SEPTIN8	SEPTIN5	psi-mi:“MI:0403”(colocalization)	0.740
SEPTIN11	SEPTIN2	psi-mi:“MI:0914”(association)	0.740
SEPTIN12	SEPTIN4	psi-mi:“MI:0914”(association)	0.730
SEPTIN2	SEPTIN8	psi-mi:“MI:0914”(association)	0.670
SEPTIN11	SEPTIN6	psi-mi:“MI:0914”(association)	0.640
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
CDC42EP4	SEPTIN6	psi-mi:“MI:0914”(association)	0.530
SEPTIN10	SEPTIN2	psi-mi:“MI:0914”(association)	0.530
SEPTIN11	SEPTIN4	psi-mi:“MI:0914”(association)	0.530
SEPTIN7	SEPTIN4	psi-mi:“MI:0914”(association)	0.530
RGS3	ZNF24	psi-mi:“MI:0914”(association)	0.530
	DENR	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (143): SEPT8 (Reconstituted Complex), SEPT8 (Affinity Capture-MS), SEPT8 (Affinity Capture-MS), SEPT8 (Affinity Capture-MS), SEPT8 (Affinity Capture-MS), SEPT8 (Affinity Capture-MS), SEPT10 (Co-fractionation), SEPT11 (Co-fractionation), SEPT5 (Co-fractionation), SEPT8 (Co-fractionation), SEPT8 (Co-fractionation), SEPT8 (Co-fractionation), SEPT8 (Co-fractionation), SEPT8 (Co-fractionation), ZWILCH (Co-fractionation)

ESM2 similar proteins: A0A096MJN4, A2BGU8, A4FUM1, A5D7Q3, A5PJU9, A6QQL3, B0BNF1, B0KWP7, B1H120, B1MTN8, B2KIE9, B3GNI6, B5FW69, O36023, O43236, P28661, P32468, P40797, P42209, P48010, Q08DM7, Q0VC68, Q0VCP4, Q14141, Q2KJB1, Q3SZN0, Q4R4X5, Q4R555, Q4V8G5, Q5EB96, Q5PQK1, Q5R6R7, Q5REG8, Q6AXA6, Q6IRQ5, Q8C1B7, Q8C650, Q8CHH9, Q8IYM1, Q92599

Diamond homologs: A0A096MJN4, A0A3Q0KDV9, A1L0Y5, A2BGU8, A2VE99, A4FUM1, A5D7Q3, A5PJU9, A6QQL3, B0BNF1, B0KWP7, B1H120, B1MTN8, B2KIE9, B3GNI6, B5FW69, G1UB61, O36023, O43236, O55131, O60165, P25342, P28661, P32457, P32458, P32468, P39826, P39827, P40797, P41901, P42207, P42208, P42209, P48008, P48009, P48010, P54359, Q04921, Q08DM7, Q09116

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 78 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
Constitutive Signaling by Aberrant PI3K in Cancer	6	14.4×	5e-04
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	7	12.8×	3e-04
PIP3 activates AKT signaling	7	8.8×	1e-03
RAF/MAP kinase cascade	7	8.1×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
cytoskeleton-dependent cytokinesis	12	130.1×	5e-21
peptidyl-tyrosine phosphorylation	5	28.5×	2e-04
intracellular protein localization	13	18.4×	8e-11
cell surface receptor protein tyrosine kinase signaling pathway	6	14.1×	5e-04
protein autophosphorylation	7	13.7×	2e-04
positive regulation of MAPK cascade	8	8.7×	5e-04
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	8	8.5×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2431 predictions. Top by Δscore:

Variant	Effect	Δscore
5:132750852:TACAG:T	acceptor_loss	1.0000
5:132750853:ACAGT:A	acceptor_loss	1.0000
5:132750854:C:G	acceptor_gain	1.0000
5:132750855:A:AG	acceptor_gain	1.0000
5:132750856:G:GT	acceptor_gain	1.0000
5:132750856:GT:G	acceptor_gain	1.0000
5:132750856:GTT:G	acceptor_gain	1.0000
5:132750856:GTTT:G	acceptor_gain	1.0000
5:132750856:GTTTA:G	acceptor_gain	1.0000
5:132760800:A:AC	donor_gain	1.0000
5:132760800:ACTT:A	donor_gain	1.0000
5:132760801:C:CC	donor_gain	1.0000
5:132760801:CTT:C	donor_gain	1.0000
5:132760801:CTTC:C	donor_gain	1.0000
5:132760803:T:TA	donor_gain	1.0000
5:132760821:T:TA	donor_gain	1.0000
5:132760988:TGGAG:T	acceptor_gain	1.0000
5:132760989:GGAG:G	acceptor_gain	1.0000
5:132760990:GAG:G	acceptor_gain	1.0000
5:132760991:AG:A	acceptor_gain	1.0000
5:132760992:GC:G	acceptor_loss	1.0000
5:132760993:C:CC	acceptor_gain	1.0000
5:132760993:CTG:C	acceptor_loss	1.0000
5:132761000:C:CT	acceptor_gain	1.0000
5:132761001:A:T	acceptor_gain	1.0000
5:132761011:C:CT	acceptor_gain	1.0000
5:132761012:A:T	acceptor_gain	1.0000
5:132761017:A:AC	acceptor_gain	1.0000
5:132761017:A:C	acceptor_gain	1.0000
5:132761129:ATAC:A	donor_loss	1.0000

AlphaMissense

3247 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:132761152:A:G	L359P	0.999
5:132761184:A:C	F348L	0.999
5:132761184:A:T	F348L	0.999
5:132761186:A:G	F348L	0.999
5:132761506:A:G	L305S	0.999
5:132761518:C:G	R301P	0.999
5:132761557:A:G	L288P	0.999
5:132761593:A:G	L276P	0.999
5:132761815:A:G	W260R	0.999
5:132761815:A:T	W260R	0.999
5:132761880:G:T	A238D	0.999
5:132761886:G:T	P236H	0.999
5:132762623:G:T	A186D	0.999
5:132763781:G:C	C153W	0.999
5:132763783:A:G	C153R	0.999
5:132763794:C:A	R149M	0.999
5:132763822:G:T	R140S	0.999
5:132763833:A:G	L136P	0.999
5:132763845:A:G	L132P	0.999
5:132764275:A:G	L99P	0.999
5:132764281:A:G	L97P	0.999
5:132764404:C:T	G56D	0.999
5:132764419:C:A	G51V	0.999
5:132764419:C:T	G51E	0.999
5:132765409:C:A	G51W	0.999
5:132765484:C:G	G26R	0.999
5:132760991:A:G	L366P	0.998
5:132761185:A:C	F348C	0.998
5:132761185:A:G	F348S	0.998
5:132761519:G:C	R301G	0.998

dbSNP variants (sampled 300 via entrez): RS1000004347 (5:132760277 C>T), RS1000012761 (5:132780384 C>T), RS1000035435 (5:132760516 G>T), RS1000577754 (5:132765031 A>G,T), RS1000677011 (5:132768319 C>T), RS1000753633 (5:132772474 ATT>A), RS1000783587 (5:132776712 G>C), RS1000793754 (5:132776444 C>A), RS1000861189 (5:132750369 G>A), RS1001004089 (5:132757530 G>A), RS1001042218 (5:132759023 T>C), RS1001225027 (5:132751583 A>G,T), RS1001232712 (5:132768019 C>A), RS1001322412 (5:132774739 G>A), RS1001477688 (5:132757093 A>G)

Disease associations

OMIM: gene MIM:608418 | 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):

Study	Trait	p-value
GCST005790_52	Rosacea symptom severity	1.000000e-06
GCST007564_19	Asthma or allergic disease (pleiotropy)	2.000000e-10
GCST007798_28	Asthma	3.000000e-13
GCST007800_29	Asthma (childhood onset)	2.000000e-19
GCST008839_409	Height	5.000000e-11
GCST008864_2	Niacinamide levels	5.000000e-07
GCST008916_34	Asthma	2.000000e-09
GCST009798_39	Asthma	5.000000e-29
GCST90002401_22	Platelet distribution width	2.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009180	rosacea severity measurement
EFO:0010511	niacinamide measurement
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067255 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
sodium arsenite	decreases expression, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, increases oxidation	1
bisphenol A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
nutlin 3	affects cotreatment, increases secretion	1
dorsomorphin	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
NSC 689534	decreases expression, affects binding	1
Vorinostat	decreases expression	1
Acrolein	increases abundance, affects cotreatment, increases oxidation	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Calcitriol	increases expression	1
Cisplatin	increases expression	1
Copper	affects binding, decreases expression	1
Coumestrol	increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Ethyl Methanesulfonate	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652417	Binding	Binding affinity to human Sep8 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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