STOM

Summary

STOM (stomatin, HGNC:3383) is a protein-coding gene on chromosome 9q33.2, encoding Stomatin (P27105). Regulates ion channel activity and transmembrane ion transport.

This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 2040 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 34 total
• Druggable target: yes
• MANE Select transcript: NM_004099

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3383
Approved symbol	STOM
Name	stomatin
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Aliases	BND7
Ensembl gene	ENSG00000148175
Ensembl biotype	protein_coding
OMIM	133090
Entrez	2040

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000286713, ENST00000347359, ENST00000538954, ENST00000891911, ENST00000891912, ENST00000965234, ENST00000965235

RefSeq mRNA: 4 — MANE Select: NM_004099 NM_001270526, NM_001270527, NM_004099, NM_198194

CCDS: CCDS6830, CCDS6831, CCDS75892

Canonical transcript exons

ENST00000286713 — 7 exons

Exon	Start	End
ENSE00000983573	121354601	121354673
ENSE00000983575	121349120	121349323
ENSE00000983576	121348015	121348149
ENSE00001025126	121353220	121353302
ENSE00001262522	121338987	121341408
ENSE00001950406	121370127	121370250
ENSE00003720885	121356053	121356156

Expression profiles

Bgee: expression breadth ubiquitous, 305 present calls, max score 99.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 78.0180 / max 1800.8829, expressed in 1775 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102349	78.0180	1775

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
visceral pleura	UBERON:0002401	99.60	gold quality
pericardium	UBERON:0002407	99.59	gold quality
vena cava	UBERON:0004087	99.50	gold quality
trabecular bone tissue	UBERON:0002483	99.42	gold quality
vein	UBERON:0001638	99.38	gold quality
saphenous vein	UBERON:0007318	99.34	gold quality
pleura	UBERON:0000977	99.28	gold quality
palpebral conjunctiva	UBERON:0001812	99.20	gold quality
right lung	UBERON:0002167	99.20	gold quality
lower lobe of lung	UBERON:0008949	99.17	gold quality
parietal pleura	UBERON:0002400	99.14	gold quality
colonic epithelium	UBERON:0000397	99.09	gold quality
upper lobe of lung	UBERON:0008948	99.03	gold quality
upper lobe of left lung	UBERON:0008952	99.02	gold quality
urethra	UBERON:0000057	99.00	gold quality
synovial joint	UBERON:0002217	98.98	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.98	gold quality
peritoneum	UBERON:0002358	98.96	gold quality
omental fat pad	UBERON:0010414	98.96	gold quality
cauda epididymis	UBERON:0004360	98.95	gold quality
adipose tissue	UBERON:0001013	98.92	gold quality
olfactory bulb	UBERON:0002264	98.92	gold quality
bone marrow	UBERON:0002371	98.92	gold quality
pancreatic ductal cell	CL:0002079	98.91	gold quality
decidua	UBERON:0002450	98.91	gold quality
bone element	UBERON:0001474	98.88	gold quality
connective tissue	UBERON:0002384	98.88	gold quality
placenta	UBERON:0001987	98.85	gold quality
lung	UBERON:0002048	98.85	gold quality
gall bladder	UBERON:0002110	98.85	gold quality

Single-cell (SCXA)

Detected in 28 experiment(s), a significant marker in 26.

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	2497.15
E-MTAB-9388	yes	1259.69
E-MTAB-8142	yes	128.91
E-MTAB-10287	yes	64.64
E-GEOD-135922	yes	46.90
E-HCAD-1	yes	46.52
E-HCAD-11	yes	41.96
E-MTAB-6701	yes	41.50
E-CURD-112	yes	39.17
E-MTAB-8410	yes	35.45
E-HCAD-4	yes	34.10
E-CURD-46	yes	33.34
E-CURD-122	yes	27.55
E-MTAB-10042	yes	26.15
E-HCAD-35	yes	20.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting STOM, 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-4262	100.00	73.26	3931
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868

Literature-anchored findings (GeneRIF, showing 26)

• This study demonstrated the existence of alpha-granular lipid rafts and suggests an important role for stomatin in the organization and function of alpha granules. (PMID:12130500)
• stomatin is localized to detergent-insoluble domains of neutrophil granule membranes (PMID:12429719)
• in stomatocytosis there is no significant abnormality in stomatin gene sequence instead, deficiency of stomatin from red cells appears to be due to a loss of stomatin from these red cells on maturation in the bone marrow and in the circulation. (PMID:12750157)
• study of strongly homologous stomatin-like genes in prokaryotes reveals a close connection with a gene coding for a hydrophobic protein with a probable serine protease motif; stomatin could be a partner protein for a membrane-bound proteolytic process (PMID:15121101)
• stomatin binds to and alters the gating of acid-sensing ion channels (PMID:15471860)
• A small C-terminal region of stomatin that is largely hydrophobic (residues 264-272) is crucial for oligomerization, whereas the N-terminal domain (residues 1-20) and the last 12 C-terminal amino acids (residues 276-287) are not essential. (PMID:16766530)
• The stomatin-actin association is important in maintaining the structure and in modulating the function of stomatin-containing membrane rafts in red cells. (PMID:17961506)
• Data indicate that a stomatin-specific, raft-based process is involved in storage-associated vesiculation. (PMID:18067507)
• Stomatin is a member of an ancient protein family that has extremely well conserved homologues in all three domains of life. (PMID:18267007)
• Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes (PMID:19696025)
• The study indicates that stomatin, sorcin, and synexin are echinophilic membrane components that mainly locate outside GM1 rafts in the human erythrocyte membrane. (PMID:20858460)
• [review] Stomatin family member STOM is oligomeric; it localizes mostly to membrane domains and has been shown to modulate ion channel activity. (PMID:21501885)
• Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains (PMID:23219802)
• upregulation of stomatin by hypoxia and dex may enhance the barrier function of alveolar epithelia and mediate the adaptive role of glucocorticoid to hypoxia (PMID:23672602)
• Stomatin protein expression is down-regulated in 80% of non-small cell lung cancer samples. (PMID:24533441)
• Authors took a proteomic approach to identify stomatin, a member of the integral proteins of lipid rafts, as a cellular protein interacting with hepatitis C virus NS5B. (PMID:25262680)
• These results may suggest that stomatin is a new prognostic indicator for HER2-positive breast cancer (PMID:27577936)
• This study showed that cells expressing more stomatin or exposed to exogenous stomatin are more prone to undergoing cell fusion; during osteoclastogenesis, depletion of stomatin inhibited cell fusion but had little effect on tartrate-resistant acid phosphatase production. (PMID:27663861)
• we show that stomatin modulates the transport activity of AE1 through a direct protein-protein interaction. (PMID:28387307)
• FRAP analyses indicate that the stomatin C-terminus is the dominant entity for lateral mobility and binding site for the cortical actin cytoskeleton (PMID:28575093)
• The Lipid Raft Component Stomatin Interacts with the Na(+) Taurocholate Cotransporting Polypeptide (NTCP) and Modulates Bile Salt Uptake. (PMID:32316189)
• Stomatin is highly expressed in exosomes of different origin and is a promising candidate as an exosomal marker. (PMID:32951259)
• Stomatin-Mediated Inhibition of the Akt Signaling Axis Suppresses Tumor Growth. (PMID:33757977)
• Cell-to-cell contact-mediated regulation of tumor behavior in the tumor microenvironment. (PMID:34420253)
• Mechanosensitive Pannexin 1 Activity Is Modulated by Stomatin in Human Red Blood Cells. (PMID:36012667)
• Stomatin promotes neutrophil degranulation and vascular leakage in the early stage after severe burn via enhancement of the intracellular binding of neutrophil primary granules to F-actin. (PMID:38185615)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Stom	ENSMUSG00000026880
rattus_norvegicus	Stom	ENSRNOG00000019147
drosophila_melanogaster	CG42540	FBGN0260657
caenorhabditis_elegans		WBGENE00006064

Paralogs (4): STOML1 (ENSG00000067221), NPHS2 (ENSG00000116218), STOML3 (ENSG00000133115), STOML2 (ENSG00000165283)

Protein

Protein identifiers

Stomatin — P27105 (reviewed: P27105)

Alternative names: Erythrocyte band 7 integral membrane protein, Erythrocyte membrane protein band 7.2, Protein 7.2b

All UniProt accessions (2): P27105, F8VSL7

UniProt curated annotations — full annotation on UniProt →

Function. Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity.

Subunit / interactions. Homodimer and higher order homooligomer. The homodimer is banana-shaped. Interacts with ASIC1, ASIC2 and ASIC3. Interacts with LANCL1. Interacts with SLC2A1. Interacts with SLC4A1; this interaction positively regulates SLC4A1 activity. Identified in large complexes with SLC40A1, SLC14A1, SLC29A1 and AQP1. Interacts with STOML1; may redistribute STOM from the plasma membrane to late endosomes.

Subcellular location. Cell membrane. Cytoplasm. Cytoskeleton. Membrane raft. Melanosome. Cytoplasmic vesicle.

Tissue specificity. Detected in erythrocytes (at protein level). Widely expressed.

Similarity. Belongs to the band 7/mec-2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P27105-1	1	yes
P27105-2	2

RefSeq proteins (4): NP_001257455, NP_001257456, NP_004090, NP_937837 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001107	Band_7	Domain
IPR001972	Stomatin_HflK_fam	Family
IPR018080	Band_7/stomatin-like_CS	Conserved_site
IPR036013	Band_7/SPFH_dom_sf	Homologous_superfamily
IPR043202	Band-7_stomatin-like	Family

Pfam: PF01145

UniProt features (42 total): mutagenesis site 17, modified residue 4, helix 4, region of interest 4, strand 3, topological domain 2, lipid moiety-binding region 2, sequence conflict 2, chain 1, splice variant 1, intramembrane region 1, turn 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9Z7U	ELECTRON MICROSCOPY	2
9OH9	ELECTRON MICROSCOPY	2.2
9ZD5	ELECTRON MICROSCOPY	2.2
9ZD2	ELECTRON MICROSCOPY	3.1
7WH3	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P27105-F1	84.37	0.54

Functional residue map

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

Post-translational modifications (6): 161, 244, 30, 87, 10, 18

Mutagenesis-validated functional residues (17):

Position	Phenotype
182	no effect on oligomerization.
185	complete loss of oligomerization.
252	complete loss of oligomerization.
263	reduced oligomerization and lipid raft association.
264	reduced oligomerization and lipid raft association.
265	oligomerization reduced to 18%. reduced lipid raft association.
266	complete loss of oligomerization. reduced lipid raft association.
267	complete loss of oligomerization and lipid raft association.
268	complete loss of oligomerization and lipid raft association.
269	complete loss of oligomerization and lipid raft association.
270	complete loss of oligomerization. no effect on lipid raft association.
271	complete loss of oligomerization. reduced lipid raft association.
272	oligomerization reduced to 18%. reduced lipid raft association.
273	complete loss of oligomerization. reduced lipid raft association.
274	reduced oligomerization and lipid raft association.
275	reduced oligomerization and lipid raft association.
276	reduced oligomerization and lipid raft association.

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-2672351	Stimuli-sensing channels
R-HSA-6798695	Neutrophil degranulation
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013406	RHOQ GTPase cycle
R-HSA-9013407	RHOH GTPase cycle
R-HSA-9013409	RHOJ GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-194315	Signaling by Rho GTPases
R-HSA-382551	Transport of small molecules
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3
R-HSA-983712	Ion channel transport

MSigDB gene sets: 357 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, MODULE_64, GOBP_PROTEIN_TARGETING, HSIAO_HOUSEKEEPING_GENES, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, DARWICHE_PAPILLOMA_PROGRESSION_RISK, GOBP_REGULATION_OF_PROTEIN_TARGETING_TO_MEMBRANE, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GOBP_HOST_MEDIATED_PERTURBATION_OF_VIRAL_PROCESS, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, MARTINEZ_RB1_TARGETS_UP

GO Biological Process (4): regulation of monoatomic ion transmembrane transport (GO:0034765), host-mediated activation of viral genome replication (GO:0044829), positive regulation of viral process (GO:0048524), positive regulation of protein targeting to membrane (GO:0090314)

GO Molecular Function (5): ion channel inhibitor activity (GO:0008200), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), RNA polymerase binding (GO:0070063), protein binding (GO:0005515)

GO Cellular Component (18): obsolete extracellular space (GO:0005615), mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020), vesicle (GO:0031982), azurophil granule membrane (GO:0035577), specific granule membrane (GO:0035579), melanosome (GO:0042470), membrane raft (GO:0045121), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), tertiary granule membrane (GO:0070821), blood microparticle (GO:0072562), cytoplasm (GO:0005737), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
RHO GTPase cycle	7
Ion channel transport	1
Innate Immune System	1
Immune System	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	5
cellular anatomical structure	5
secretory granule membrane	3
intracellular membrane-bounded organelle	2
monoatomic ion transmembrane transport	1
regulation of transmembrane transport	1
regulation of monoatomic ion transport	1
host-mediated activation of viral process	1
host-mediated perturbation of viral genome replication	1
viral process	1
positive regulation of biological process	1
regulation of viral process	1
protein targeting to membrane	1
positive regulation of cellular process	1
regulation of protein targeting to membrane	1
positive regulation of establishment of protein localization	1
monoatomic ion channel activity	1
channel inhibitor activity	1
transmembrane transporter binding	1
ion channel regulator activity	1
protein binding	1
identical protein binding	1
protein dimerization activity	1
enzyme binding	1
binding	1
endomembrane system	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
membrane-bounded organelle	1
lysosomal membrane	1
azurophil granule	1
specific granule	1
pigment granule	1
membrane microdomain	1
extracellular vesicle	1
tertiary granule	1
extracellular region	1
intracellular anatomical structure	1
intracellular vesicle	1

Protein interactions and networks

STRING

2284 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STOM	PHB1	P35232	937
STOM	FLOT1	O75955	864
STOM	SLC2A1	P11166	833
STOM	LANCL1	O43813	803
STOM	FLOT2	Q14254	787
STOM	ASIC2	Q16515	695
STOM	PHB2	Q99623	663
STOM	ERVFRD-1	P60508	620
STOM	ERV3-1	Q14264	620
STOM	AQP1	P29972	616
STOM	SLC2A3	P11169	615
STOM	ERLIN2	O94905	612
STOM	ASIC3	Q9UHC3	584
STOM	CD2AP	Q9Y5K6	583
STOM	PRDX2	P31945	565

IntAct

460 interactions, top by confidence:

A	B	Type	Score
TSPAN15	ADAM10	psi-mi:“MI:0914”(association)	0.840
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
SLC4A1	GYPA	psi-mi:“MI:0403”(colocalization)	0.660
RAC1	COX6C	psi-mi:“MI:0914”(association)	0.640
FAF2	UBB	psi-mi:“MI:0914”(association)	0.640
STOM	SLC4A1	psi-mi:“MI:0915”(physical association)	0.610
STOML1	STOM	psi-mi:“MI:0403”(colocalization)	0.600
STOM	STOML1	psi-mi:“MI:0915”(physical association)	0.600
STOML1	STOM	psi-mi:“MI:0915”(physical association)	0.600
	STOM	psi-mi:“MI:0915”(physical association)	0.590
STOM	DVL3	psi-mi:“MI:0915”(physical association)	0.560
AIG1	STOM	psi-mi:“MI:0915”(physical association)	0.560
SLC4A1	FLOT1	psi-mi:“MI:0914”(association)	0.530
GIMAP2	TOR1B	psi-mi:“MI:0914”(association)	0.530
SMPD3	ENDOD1	psi-mi:“MI:0914”(association)	0.530
SSMEM1	NDUFA7	psi-mi:“MI:0914”(association)	0.530

BioGRID (457): STOM (Affinity Capture-MS), STOM (Two-hybrid), STOM (Affinity Capture-MS), STOM (Affinity Capture-MS), STOM (Affinity Capture-MS), STOM (Affinity Capture-MS), STOM (Affinity Capture-MS), STOM (Affinity Capture-MS), STOM (Affinity Capture-MS), CCT8 (Co-fractionation), STOM (Co-fractionation), STOM (Co-fractionation), STOM (Co-fractionation), STOM (Co-fractionation), ASIC3 (Affinity Capture-Western)

ESM2 similar proteins: A3QMC6, A9UMS3, H1VAN0, H1VPS8, H2FLJ1, O04331, O08917, O13127, O35129, O49460, O60121, O61491, O75477, O75955, O94550, P16148, P24156, P26659, P27105, P40961, P50085, P50093, P54116, P72655, P77306, Q28DX1, Q2HJ97, Q32LL2, Q4FZT0, Q54GI9, Q54Q31, Q5RB19, Q5RBL4, Q5RCJ9, Q5XIH7, Q5ZMN3, Q7YR41, Q8TAV4, Q91X78, Q99623

Diamond homologs: H2FLJ1, O26788, O28852, O59180, O60121, P0AA53, P0AA54, P0AA55, P0AA56, P0DKS0, P27105, P54116, P63694, P72655, P9WPR8, P9WPR9, Q16TM5, Q19200, Q19958, Q27433, Q32LL2, Q4FZT0, Q58237, Q6PE84, Q7PPU9, Q8TAV4, Q99JB2, Q9UJZ1, Q9V0Y1, Q9VZA4, P0ABC7, P0ABC8, P40605, Q20657, Q21190, Q22165, Q5UP73, Q9KV09, Q9UBI4, Q8CI66

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
STOM	“down-regulates activity”	SLC2A1	binding
STOM	“form complex”	“4.1 complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 171 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
cellular respiration	5	13.8×	9e-03
protein import into nucleus	10	9.2×	2e-04
protein localization to plasma membrane	10	6.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

826 predictions. Top by Δscore:

Variant	Effect	Δscore
9:121341477:GGGG:G	donor_gain	1.0000
9:121341478:GGG:G	donor_gain	1.0000
9:121341478:GGGG:G	donor_gain	1.0000
9:121341479:GGG:G	donor_gain	1.0000
9:121348010:GTTA:G	donor_loss	1.0000
9:121348011:TTA:T	donor_loss	1.0000
9:121348012:TA:T	donor_loss	1.0000
9:121348014:C:CT	donor_loss	1.0000
9:121348145:GTAGA:G	acceptor_gain	1.0000
9:121348146:TAGA:T	acceptor_gain	1.0000
9:121348147:AGA:A	acceptor_gain	1.0000
9:121348147:AGAC:A	acceptor_loss	1.0000
9:121348148:GA:G	acceptor_gain	1.0000
9:121348148:GAC:G	acceptor_loss	1.0000
9:121348149:AC:A	acceptor_loss	1.0000
9:121348150:C:CC	acceptor_gain	1.0000
9:121348150:C:CG	acceptor_loss	1.0000
9:121348153:T:TC	acceptor_gain	1.0000
9:121349111:A:AC	donor_gain	1.0000
9:121349112:C:CC	donor_gain	1.0000
9:121349115:C:A	donor_gain	1.0000
9:121349188:T:TA	donor_gain	1.0000
9:121349320:GGAT:G	acceptor_gain	1.0000
9:121349321:GAT:G	acceptor_gain	1.0000
9:121349323:TCT:T	acceptor_loss	1.0000
9:121349324:C:CA	acceptor_loss	1.0000
9:121349324:C:CC	acceptor_gain	1.0000
9:121349325:T:G	acceptor_loss	1.0000
9:121353214:CCTTA:C	donor_loss	1.0000
9:121353215:CTTA:C	donor_loss	1.0000

AlphaMissense

1871 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:121341302:A:G	L256P	1.000
9:121341311:A:G	L253P	1.000
9:121341320:A:G	L250P	1.000
9:121341368:A:G	L234P	1.000
9:121341381:C:G	A230P	1.000
9:121341399:C:G	A224P	1.000
9:121348020:C:G	A219P	1.000
9:121348026:C:G	A217P	1.000
9:121348038:C:G	A213P	1.000
9:121348044:C:G	A211P	1.000
9:121348050:C:G	A209P	1.000
9:121348053:C:G	A208P	1.000
9:121348119:C:G	G186R	1.000
9:121348119:C:T	G186R	1.000
9:121348122:A:G	W185R	1.000
9:121348122:A:T	W185R	1.000
9:121349311:C:G	D112H	1.000
9:121341290:G:T	A260D	0.999
9:121341291:C:G	A260P	0.999
9:121341317:C:G	R251P	0.999
9:121341357:A:G	S238P	0.999
9:121341360:C:G	A237P	0.999
9:121341372:C:G	A233P	0.999
9:121341378:A:G	S231P	0.999
9:121341393:C:G	G226R	0.999
9:121341393:C:T	G226R	0.999
9:121341398:G:T	A224D	0.999
9:121341402:C:G	A223P	0.999
9:121348019:G:T	A219D	0.999
9:121348022:C:G	R218P	0.999

dbSNP variants (sampled 300 via entrez): RS1000040431 (9:121360081 G>A), RS1000054950 (9:121366814 G>A,C), RS1000287413 (9:121359016 C>G,T), RS1000598826 (9:121346391 TG>T), RS1000610521 (9:121342528 G>A), RS1000680205 (9:121340980 A>G), RS1000818618 (9:121338718 C>A), RS1000834262 (9:121371504 G>A), RS1000856815 (9:121368739 G>A), RS1000959289 (9:121361504 T>A), RS1000964651 (9:121342923 A>C,G), RS1001007985 (9:121365584 T>G), RS1001058765 (9:121365280 C>A,G,T), RS1001131192 (9:121367314 C>G), RS1001311057 (9:121363058 T>C)

Disease associations

OMIM: gene MIM:133090 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066930 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.72	Kd	19.05	nM	CHEMBL5653589
7.72	ED50	19.05	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149515: Binding affinity to human STOM incubated for 45 mins by Kinobead based pull down assay	kd	0.0191	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, decreases expression, increases expression	4
Benzo(a)pyrene	increases expression	4
Valproic Acid	affects expression, decreases expression, increases expression	4
Aflatoxin B1	affects expression, affects cotreatment, increases expression, decreases methylation	4
Cadmium Chloride	decreases expression, increases expression, affects cotreatment	3
bisphenol A	decreases expression	2
Acetaminophen	decreases expression, increases expression	2
Methyl Methanesulfonate	increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
glycidyl methacrylate	decreases expression	1
lead acetate	decreases expression, affects cotreatment	1
methylselenic acid	increases expression	1
trichostatin A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
afimoxifene	decreases expression, decreases reaction	1
chromous chloride	affects cotreatment, decreases expression	1
chromic oxide	affects cotreatment, decreases expression	1
zinc chromate	increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment, 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
CHEMBL5652557	Binding	Binding affinity to human STOM 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.