SEPTIN11

Summary

SEPTIN11 (septin 11, HGNC:25589) is a protein-coding gene on chromosome 4q21.1, encoding Septin-11 (Q9NVA2). Filament-forming cytoskeletal GTPase.

SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).

Source: NCBI Gene 55752 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 50 total
• MANE Select transcript: NM_018243

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25589
Approved symbol	SEPTIN11
Name	septin 11
Location	4q21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10849, Septin-11
Ensembl gene	ENSG00000138758
Ensembl biotype	protein_coding
OMIM	612887
Entrez	55752

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 10 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000264893, ENST00000502401, ENST00000502584, ENST00000504460, ENST00000504637, ENST00000505788, ENST00000506047, ENST00000506731, ENST00000510515, ENST00000510641, ENST00000512333, ENST00000512575, ENST00000512778, ENST00000513373, ENST00000513697, ENST00000515671, ENST00000880981

RefSeq mRNA: 2 — MANE Select: NM_018243 NM_001306147, NM_018243

CCDS: CCDS34018, CCDS77931

Canonical transcript exons

ENST00000264893 — 10 exons

Exon	Start	End
ENSE00001140709	77034497	77038615
ENSE00001276655	77020502	77020670
ENSE00002079778	76949752	76949930
ENSE00003475950	77030783	77030970
ENSE00003479310	77019165	77019261
ENSE00003490476	77028629	77028761
ENSE00003533620	77005601	77005796
ENSE00003599220	76996425	76996539
ENSE00003620419	77014856	77015017
ENSE00003690594	77011735	77011921

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 99.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 107.9423 / max 2348.9383, expressed in 1815 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48370	69.8739	1801
48372	20.0286	1730
48371	11.6754	1675
48386	1.1797	696
48383	1.1544	553
48382	1.1020	561
48374	0.5322	259
48389	0.4108	167
48375	0.3931	181
48388	0.3690	159

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	99.53	gold quality
ganglionic eminence	UBERON:0004023	99.16	gold quality
calcaneal tendon	UBERON:0003701	98.70	gold quality
cortical plate	UBERON:0005343	98.62	gold quality
embryo	UBERON:0000922	98.49	gold quality
stromal cell of endometrium	CL:0002255	98.40	gold quality
sural nerve	UBERON:0015488	98.07	gold quality
colonic epithelium	UBERON:0000397	97.58	gold quality
periodontal ligament	UBERON:0008266	97.29	gold quality
decidua	UBERON:0002450	97.27	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.23	gold quality
right frontal lobe	UBERON:0002810	97.14	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.80	gold quality
lower lobe of lung	UBERON:0008949	96.62	gold quality
adipose tissue	UBERON:0001013	96.52	gold quality
prefrontal cortex	UBERON:0000451	96.47	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.30	gold quality
subcutaneous adipose tissue	UBERON:0002190	96.23	gold quality
connective tissue	UBERON:0002384	96.21	gold quality
nucleus accumbens	UBERON:0001882	96.12	gold quality
synovial joint	UBERON:0002217	96.07	gold quality
adipose tissue of abdominal region	UBERON:0007808	96.06	gold quality
peritoneum	UBERON:0002358	96.00	gold quality
omental fat pad	UBERON:0010414	96.00	gold quality
gall bladder	UBERON:0002110	95.94	gold quality
smooth muscle tissue	UBERON:0001135	95.89	gold quality
caudate nucleus	UBERON:0001873	95.87	gold quality
cerebellar hemisphere	UBERON:0002245	95.83	gold quality
amygdala	UBERON:0001876	95.77	gold quality
cerebellar cortex	UBERON:0002129	95.75	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-10662	yes	637.56
E-HCAD-10	yes	56.85
E-HCAD-5	yes	37.64
E-HCAD-31	yes	20.66
E-ANND-3	yes	18.59
E-CURD-112	yes	9.88
E-HCAD-9	yes	5.11
E-MTAB-7008	no	1015.76
E-MTAB-7037	no	735.13
E-MTAB-3929	no	404.15
E-MTAB-9388	no	9.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

181 targeting SEPTIN11, 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-3163	100.00	77.23	8605
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-545-3P	99.95	70.74	2783

Literature-anchored findings (GeneRIF, showing 12)

• Sept7/9b/11 form a complex that has effects on filament elongation, bundling, or disruption (PMID:15485874)
• SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling (PMID:17546647)
• Our finding suggests a role for members of the septin family in the development of proliferative retinal membranes. (PMID:17625225)
• SEPT2 is essential for the InlB-mediated entry of Listeria, but SEPT11 is not, which distinguishes the roles of different mammalian septins (PMID:19234302)
• LOH in genes around D4S2964, including ARD1B and SEPT11 may play an important role in hepatocellular carcinoma development and progression (PMID:20419844)
• Cloned and characterised novel SEPT11 variants and investigated interaction partners of SEPT11 in platelets and human umbilical vein endothelial cells. (PMID:20978712)
• the role of SEPT2 and SEPT11 in the InlB-Met interactions (PMID:21504731)
• The proteomic discovery of insoluble SEPT11 accumulation in FTLD-U, along with novel pathological associations, highlights a role for this cytoskeleton-associated protein in the pathogenesis of this complex disorder. (PMID:22126117)
• Authors report here that the septins SEPT2, -9, -11, and probably -7 form fibrillar structures around the chlamydial inclusion. (PMID:25293760)
• findings support a role for SEPT11 in lipid traffic and metabolism in adipocytes and open new avenues for research on the control of lipid storage in obesity and insulin resistance. (PMID:27866222)
• Septin11 promotes hepatocellular carcinoma cell motility by activating RhoA to regulate cytoskeleton and cell adhesion. (PMID:37080972)
• Downregulation of SEPTIN11 inhibits endometrial epithelial cell adhesive function in patients with elevated peripheral blood natural killer cell counts. (PMID:37349244)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Septin11	ENSMUSG00000058013
rattus_norvegicus	Septin11	ENSRNOG00000002182
drosophila_melanogaster	Septin1	FBGN0011710
drosophila_melanogaster	Septin2	FBGN0014029
caenorhabditis_elegans		WBGENE00006795

Paralogs (12): SEPTIN3 (ENSG00000100167), SEPTIN7 (ENSG00000122545), SEPTIN6 (ENSG00000125354), SEPTIN12 (ENSG00000140623), SEPTIN14 (ENSG00000154997), SEPTIN8 (ENSG00000164402), SEPTIN2 (ENSG00000168385), SEPTIN1 (ENSG00000180096), SEPTIN9 (ENSG00000184640), SEPTIN5 (ENSG00000184702), SEPTIN10 (ENSG00000186522), TMEM250 (ENSG00000238227)

Protein

Protein identifiers

Septin-11 — Q9NVA2 (reviewed: Q9NVA2)

All UniProt accessions (9): A0A384P5S0, D6R9Y6, D6RDP1, D6RDU5, D6RER5, D6RGI3, Q9NVA2, H0Y961, H0Y9G8

UniProt curated annotations — full annotation on UniProt →

Function. Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity. During Listeria monocytogenes infection, not required for the bacterial entry process, but restricts its efficacy.

Subunit / interactions. Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. Forms homooligomers. GTPase activity is required for filament formation. Interacts with SEPTIN7, SEPTIN9 and SEPTIN12.

Subcellular location. Cytoplasm. Cytoskeleton. Synapse. Cell projection. Dendritic spine. Axon.

Tissue specificity. Widely expressed, except in leukocytes.

Disease relevance. A chromosomal aberration involving SEPTIN11 may be a cause of chronic neutrophilic leukemia. Translocation t(4;11)(q21;q23) with KMT2A/MLL1.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NVA2-1	1	yes
Q9NVA2-2	2

RefSeq proteins (2): NP_001293076, NP_060713* (*=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 (47 total): strand 11, helix 8, turn 6, binding site 5, region of interest 4, sequence conflict 3, modified residue 2, compositionally biased region 2, initiator methionine 1, chain 1, splice variant 1, mutagenesis site 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6UPQ	X-RAY DIFFRACTION	1.86

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVA2-F1	82.07	0.40

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): 48–55; 103; 184–192; 238; 253

Post-translational modifications (2): 2, 9

Mutagenesis-validated functional residues (1):

Position	Phenotype
48	high reduction in gtpase activity. no effect on gtp-binding. loss of filament formation.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 241 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, WALLACE_PROSTATE_CANCER_RACE_UP, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, CACCAGC_MIR138, CTATGCA_MIR153, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_CYTOKINESIS, ONDER_CDH1_TARGETS_2_UP, BROWNE_HCMV_INFECTION_24HR_DN, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_DENDRITIC_CELL, GOCC_NEURON_PROJECTION, ACEVEDO_LIVER_CANCER_UP, TGCCTTA_MIR124A, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, AGCATTA_MIR155

GO Biological Process (3): intracellular protein localization (GO:0008104), cytoskeleton-dependent cytokinesis (GO:0061640), cell division (GO:0051301)

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 (11): stress fiber (GO:0001725), septin ring (GO:0005940), microtubule cytoskeleton (GO:0015630), axon (GO:0030424), septin complex (GO:0031105), cell division site (GO:0032153), dendritic spine (GO:0043197), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
cytoskeleton	2
cell cortex	2
septin cytoskeleton	2
macromolecule localization	1
cytokinesis	1
cellular process	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
actomyosin	1
contractile actin filament bundle	1
neuron projection	1
protein-containing complex	1
dendrite	1
neuron spine	1
postsynapse	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cell junction	1

Protein interactions and networks

STRING

926 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEPTIN11	SEPTIN4	O43236	914
SEPTIN11	SEPTIN5	Q99719	837
SEPTIN11	SEPTIN7	Q16181	800
SEPTIN11	SEPTIN10	Q9P0V9	747
SEPTIN11	SEPTIN6	Q14141	724
SEPTIN11	RTKN	Q9BST9	669
SEPTIN11	SEPTIN9	Q9UHD8	643
SEPTIN11	CENPE	Q02224	603
SEPTIN11	SOCS4	Q8WXH5	589
SEPTIN11	SOCS7	O14512	574
SEPTIN11	SEPTIN1	Q8WYJ6	568
SEPTIN11	MAP4	P27816	545
SEPTIN11	CDC42EP5	Q6NZY7	507
SEPTIN11	SEC14L1	Q92503	496
SEPTIN11	FABP5	Q01469	462

IntAct

100 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
SEPTIN5	SEPTIN11	psi-mi:“MI:0915”(physical association)	0.910
SEPTIN11	SEPTIN5	psi-mi:“MI:0915”(physical association)	0.910
SEPTIN5	SEPTIN11	psi-mi:“MI:0407”(direct interaction)	0.910
SEPTIN11	SEPTIN5	psi-mi:“MI:2364”(proximity)	0.910
SEPTIN7	SEPTIN6	psi-mi:“MI:0914”(association)	0.850
SEPTIN9	SEPTIN2	psi-mi:“MI:0914”(association)	0.840
SEPTIN12	SEPTIN6	psi-mi:“MI:0914”(association)	0.830
SEPTIN7	SEPTIN11	psi-mi:“MI:0915”(physical association)	0.800
SEPTIN9	SEPTIN6	psi-mi:“MI:0914”(association)	0.800
SEPTIN3	SEPTIN6	psi-mi:“MI:0914”(association)	0.800
SEPTIN9	SEPTIN11	psi-mi:“MI:0915”(physical association)	0.770
SEPTIN11	SEPTIN2	psi-mi:“MI:0914”(association)	0.740
SEPTIN12	SEPTIN4	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SEPTIN1	SEPTIN11	psi-mi:“MI:0915”(physical association)	0.670
SEPTIN11	SEPTIN6	psi-mi:“MI:0914”(association)	0.640
MORN4	SEPTIN11	psi-mi:“MI:0915”(physical association)	0.560
	SEPTIN11	psi-mi:“MI:0915”(physical association)	0.560
CDC42EP4	SEPTIN6	psi-mi:“MI:0914”(association)	0.530

BioGRID (200): SEPT11 (Two-hybrid), SEPT11 (Affinity Capture-MS), SEPT11 (Affinity Capture-MS), SEPT11 (Affinity Capture-MS), SEPT11 (Affinity Capture-MS), SEPT11 (Affinity Capture-MS), SEPT11 (Co-fractionation), SEPT11 (Co-fractionation), SEPT11 (Co-fractionation), SEPT11 (Co-fractionation), SEPT5 (Co-fractionation), SEPT9 (Co-fractionation), SEPT11 (Affinity Capture-MS), SEPT11 (Affinity Capture-MS), SEPT11 (Affinity Capture-MS)

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 74 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.

GO biological processes:

GO term	Partners	Fold	FDR
cytoskeleton-dependent cytokinesis	11	122.6×	1e-18
intracellular protein localization	13	18.9×	6e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2245 predictions. Top by Δscore:

Variant	Effect	Δscore
4:76949927:GTCT:G	donor_gain	1.0000
4:76949931:G:GG	donor_gain	1.0000
4:76996414:T:A	acceptor_gain	1.0000
4:76996422:CA:C	acceptor_loss	1.0000
4:76996423:A:AG	acceptor_gain	1.0000
4:76996423:A:C	acceptor_loss	1.0000
4:76996424:G:GA	acceptor_gain	1.0000
4:76996424:G:T	acceptor_loss	1.0000
4:76996424:GA:G	acceptor_gain	1.0000
4:76996536:GTTG:G	donor_gain	1.0000
4:76996538:TGGTA:T	donor_loss	1.0000
4:76996540:G:GG	donor_gain	1.0000
4:76996540:GTAAG:G	donor_loss	1.0000
4:77005588:T:TA	acceptor_gain	1.0000
4:77005590:T:TA	acceptor_gain	1.0000
4:77005591:G:A	acceptor_gain	1.0000
4:77005598:TAG:T	acceptor_loss	1.0000
4:77005599:A:AC	acceptor_loss	1.0000
4:77005600:GGT:G	acceptor_gain	1.0000
4:77005724:A:T	donor_gain	1.0000
4:77005780:A:G	donor_gain	1.0000
4:77009029:GCT:G	donor_gain	1.0000
4:77009045:G:GT	donor_gain	1.0000
4:77011917:G:GG	donor_gain	1.0000
4:77011917:GTAAG:G	donor_loss	1.0000
4:77011918:TAAG:T	donor_loss	1.0000
4:77011919:AAG:A	donor_loss	1.0000
4:77011920:AGGTA:A	donor_loss	1.0000
4:77011921:GGT:G	donor_loss	1.0000
4:77014853:CA:C	acceptor_loss	1.0000

AlphaMissense

2890 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:76996464:G:A	G23R	1.000
4:76996464:G:C	G23R	1.000
4:76996465:G:A	G23E	1.000
4:76996515:T:C	F40L	1.000
4:76996517:C:A	F40L	1.000
4:76996517:C:G	F40L	1.000
4:76996539:G:C	G48R	1.000
4:77005601:G:T	G48V	1.000
4:77005616:G:A	G53D	1.000
4:77005739:T:C	L94P	1.000
4:77011782:T:C	L129P	1.000
4:77011805:C:A	R137S	1.000
4:77011833:G:C	R146T	1.000
4:77011833:G:T	R146M	1.000
4:77011834:G:C	R146S	1.000
4:77011834:G:T	R146S	1.000
4:77019235:G:C	R253T	1.000
4:77019235:G:T	R253M	1.000
4:77019236:G:C	R253S	1.000
4:77019236:G:T	R253S	1.000
4:77019246:T:A	W257R	1.000
4:77019246:T:C	W257R	1.000
4:77019248:G:C	W257C	1.000
4:77019248:G:T	W257C	1.000
4:77020535:T:C	L273P	1.000
4:77020610:G:C	R298P	1.000
4:77020622:T:C	L302P	1.000
4:77028708:T:C	F345L	1.000
4:77028709:T:C	F345S	1.000
4:77028709:T:G	F345C	1.000

dbSNP variants (sampled 300 via entrez): RS1000003782 (4:76998343 T>C), RS10000055 (4:76961307 G>T), RS10000606 (4:77040224 A>G,T), RS1000068660 (4:77030311 C>T), RS1000179874 (4:76957568 C>G), RS1000205177 (4:77025354 T>A,C), RS1000239347 (4:76961844 T>A), RS10002443 (4:77032505 G>T), RS1000257397 (4:77025569 A>G), RS1000272810 (4:77037110 C>A,G), RS1000298776 (4:76979824 G>T), RS10003222 (4:76962345 G>A,T), RS1000370813 (4:76965325 C>A), RS1000399302 (4:76972876 T>C), RS1000458885 (4:77019335 G>A,T)

Disease associations

OMIM: gene MIM:612887 | disease phenotypes: MIM:213200

GenCC curated gene-disease

Mondo (1): autosomal recessive cerebellar ataxia (MONDO:0015244)

Orphanet (1): Autosomal recessive cerebellar ataxia (Orphanet:1172)

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST003489_2	Food addiction	9.000000e-06
GCST003489_5	Food addiction	2.000000e-07
GCST004579_1	Waist-to-hip circumference ratio (alcohol intake interaction)	9.000000e-06
GCST004753_7	Papillary thyroid cancer	6.000000e-07
GCST004798_8	Differentiated thyroid cancer	2.000000e-07
GCST006979_436	Heel bone mineral density	2.000000e-22
GCST90002401_145	Platelet distribution width	2.000000e-12

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007829	eating behaviour
EFO:0007830	food addiction measurement
EFO:0004343	waist-hip ratio
EFO:0009270	heel bone mineral density
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	increases expression, affects cotreatment	2
bisphenol A	decreases expression, increases expression	2
cobaltous chloride	decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	2
Benzo(a)pyrene	increases methylation, increases mutagenesis	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Tretinoin	decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression, affects localization, increases expression	1
mancozeb	increases expression	1
tetrahydropalmatine	decreases expression	1
nickel sulfate	decreases expression	1
tamibarotene	affects expression, decreases expression	1
microcystin RR	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
nutlin 3	affects cotreatment, increases secretion	1
torcetrapib	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
bromovanin	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
LDN 193189	increases expression, affects cotreatment	1
NSC 689534	affects binding, decreases expression	1
bisphenol AF	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_2121	MOLM-20	Cancer cell line	Female
CVCL_V650	CNLBC1	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT04261127	Not specified	RECRUITING	Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia