STAM

Summary

STAM (signal transducing adaptor molecule, HGNC:11357) is a protein-coding gene on chromosome 10p12.33, encoding Signal transducing adapter molecule 1 (Q92783). Involved in intracellular signal transduction mediated by cytokines and growth factors.

This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene.

Source: NCBI Gene 8027 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_003473

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11357
Approved symbol	STAM
Name	signal transducing adaptor molecule
Location	10p12.33
Locus type	gene with protein product
Status	Approved
Aliases	STAM1
Ensembl gene	ENSG00000136738
Ensembl biotype	protein_coding
OMIM	601899
Entrez	8027

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000377500, ENST00000377524, ENST00000445846, ENST00000486183, ENST00000494250, ENST00000892729, ENST00000892730, ENST00000925944, ENST00000945545

RefSeq mRNA: 9 — MANE Select: NM_003473 NM_001324282, NM_001324283, NM_001324284, NM_001324285, NM_001324286, NM_001324287, NM_001324288, NM_001324289, NM_003473

CCDS: CCDS7122

Canonical transcript exons

ENST00000377524 — 14 exons

Exon	Start	End
ENSE00001826722	17714543	17716824
ENSE00002466179	17704970	17705024
ENSE00002468964	17708776	17708951
ENSE00002470459	17700191	17700279
ENSE00002476979	17705588	17705741
ENSE00002489468	17704431	17704518
ENSE00002513600	17693222	17693312
ENSE00002719358	17644151	17644379
ENSE00003394798	17695049	17695241
ENSE00003497319	17684832	17684927
ENSE00003578247	17660464	17660548
ENSE00003604926	17688027	17688173
ENSE00003624138	17696775	17696869
ENSE00003644505	17684675	17684750

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 94.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.5463 / max 673.6114, expressed in 1823 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
104094	19.7182	1815
104096	12.9859	1767
104095	4.6593	1603
104098	1.6375	453
104093	0.5454	305

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	94.01	gold quality
amniotic fluid	UBERON:0000173	91.59	gold quality
endothelial cell	CL:0000115	91.58	gold quality
pigmented layer of retina	UBERON:0001782	90.83	gold quality
corpus callosum	UBERON:0002336	90.59	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.27	gold quality
cortical plate	UBERON:0005343	89.88	gold quality
germinal epithelium of ovary	UBERON:0001304	89.63	gold quality
substantia nigra pars compacta	UBERON:0001965	89.63	gold quality
pons	UBERON:0000988	89.59	gold quality
ganglionic eminence	UBERON:0004023	89.55	gold quality
esophagus squamous epithelium	UBERON:0006920	89.38	gold quality
gingival epithelium	UBERON:0001949	89.35	gold quality
cerebellar vermis	UBERON:0004720	89.22	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.16	gold quality
subthalamic nucleus	UBERON:0001906	88.98	gold quality
postcentral gyrus	UBERON:0002581	88.92	gold quality
orbitofrontal cortex	UBERON:0004167	88.62	gold quality
prefrontal cortex	UBERON:0000451	88.59	gold quality
inferior vagus X ganglion	UBERON:0005363	88.52	gold quality
superior vestibular nucleus	UBERON:0007227	88.47	gold quality
superior frontal gyrus	UBERON:0002661	88.46	gold quality
bone marrow	UBERON:0002371	88.41	gold quality
parietal lobe	UBERON:0001872	88.39	gold quality
adrenal tissue	UBERON:0018303	88.29	gold quality
substantia nigra pars reticulata	UBERON:0001966	88.25	gold quality
Brodmann (1909) area 46	UBERON:0006483	88.16	gold quality
stromal cell of endometrium	CL:0002255	88.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.83	gold quality
tendon	UBERON:0000043	87.59	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-120	yes	49.33
E-ANND-3	yes	9.10
E-MTAB-7249	no	251.72

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, E2F4, ZNF331

miRNA regulators (miRDB)

129 targeting STAM, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-8063	99.91	69.76	3146

Literature-anchored findings (GeneRIF, showing 15)

• STAM proteins function in a multivalent complex that sorts ubiquitinated proteins into the multivesicular body pathway. (PMID:12551915)
• Interaction of TIMM8a with STAM1. (PMID:12745081)
• Data suggested that association with hepatocyte growth factor-regulated tyrosine kinase substrate is a prerequisite for STAM1 function in early endosome. (PMID:15113837)
• Hrs is a master molecule that controls in part the degradation of STAM1 and the accumulation of ubiquitinated proteins (PMID:15640163)
• Analysis with phospho-specific antibodies indicates that 3 kinases generate a signal-specific, combinatorial phosphorylation profile of the Hrs-STAM complex, with the potential of diversifying tyrosine kinase receptor signalling through a common element. (PMID:15828871)
• The cellular functions of UBPY are complex but clearly distinct from those of the Lys-63-ubiquitin-specific protease, AMSH, with which it shares a binding site on the SH3 domain of STAM (PMID:16520378)
• STAMs function prominently in endoplasmic reticulum-to-Golgi trafficking, most likely through direct interactions with the coat protein II complex (PMID:19054391)
• A novel ubiquitin binding site and the manner of ubiquitin recognition of the STAM1 VHS domain were proposed. (PMID:19111546)
• Overexpression of an AIP4 catalytically inactive mutant and a mutant that shows poor binding to STAM-1 fails to enhance CXCR4-induced ERK-1/2 signaling. (PMID:22275353)
• ESCRT-0 protein hepatocyte growth factor-regulated tyrosine kinase substrate (Hrs) is targeted to endosomes independently of signal-transducing adaptor molecule (STAM) and the complex formation with STAM promotes its endosomal dissociation. (PMID:25296754)
• Differential expression of the transcripts STAM connects ubiquitin-proteasome system with infection-inflammation in preterm births and preterm premature rupture of membranes. (PMID:25884766)
• The VHS domain of STAM1 directs AMSH to cleave longer Lys63-linked ubiquitin chains (PMID:26601948)
• The beta-arrestin1.STAM1 complex is necessary for promoting autophosphorylation of focal adhesion kinase (FAK). FAK is necessary for CXCL12-induced chemotaxis and associates with and localizes with beta-arrestin1 and STAM1 in a CXCL12-dependent manner. (PMID:27789711)
• A risk signature with four autophagy-related genes for predicting survival of glioblastoma multiforme. (PMID:32065482)
• A non-GPCR-binding partner interacts with a novel surface on beta-arrestin1 to mediate GPCR signaling. (PMID:32753481)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	stam	ENSDARG00000002127
mus_musculus	Stam	ENSMUSG00000026718
rattus_norvegicus	Stam	ENSRNOG00000060817
drosophila_melanogaster	Stam	FBGN0027363
drosophila_melanogaster	Gga	FBGN0030141
drosophila_melanogaster	Wdfy2	FBGN0032246
caenorhabditis_elegans	stam-1	WBGENE00004109
caenorhabditis_elegans		WBGENE00008402

Paralogs (10): WDFY1 (ENSG00000085449), GGA1 (ENSG00000100083), TOM1 (ENSG00000100284), GGA2 (ENSG00000103365), STAM2 (ENSG00000115145), GGA3 (ENSG00000125447), WDFY2 (ENSG00000139668), TOM1L1 (ENSG00000141198), TOM1L2 (ENSG00000175662), HGS (ENSG00000185359)

Protein

Protein identifiers

Signal transducing adapter molecule 1 — Q92783 (reviewed: Q92783)

All UniProt accessions (3): A6NMU3, C9J1E5, Q92783

UniProt curated annotations — full annotation on UniProt →

Function. Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as a sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes. (Microbial infection) Plays an important role in Dengue virus entry.

Subunit / interactions. Component of the ESCRT-0 complex composed of STAM or STAM2 and HGS. Probably part of a complex at least composed of HSG, STAM and EPS15. Found in a complex with HGS and E3 ligase ITCH and DTX3L. Interacts with E3 ligase DTX3L; the interaction brings together STAM and HSG, promotes their recruitment to early endosomes and decreases STAM and HGS ubiquitination by ITCH. Interacts with STAMBP/AMSH. Interacts with PDGFRB. Interacts with LITAF; the interaction is direct. Identified in a complex with HGS and LITAF. Interacts with HAVCR1.

Subcellular location. Cytoplasm. Early endosome membrane.

Tissue specificity. Ubiquitously expressed.

Post-translational modifications. Phosphorylated on Tyr-198. Phosphorylated in response to IL2, IL3, IL4, IL7, CSF2/GM-CSF, EGF and PDGFB. Phosphorylated by activated PDGFRB. Ubiquitinated by ITCH.

Domain organisation. The VHS domain mediates high-avidity binding to Lys63-linked and Lys48-linked polyubiquitinated cargos.

Similarity. Belongs to the STAM family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92783-1	1	yes
Q92783-2	2

RefSeq proteins (9): NP_001311211, NP_001311212, NP_001311213, NP_001311214, NP_001311215, NP_001311216, NP_001311217, NP_001311218, NP_003464* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR002014	VHS_dom	Domain
IPR003903	UIM_dom	Conserved_site
IPR008942	ENTH_VHS	Homologous_superfamily
IPR035657	STAM1_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR047492	GAT_STAM1	Domain
IPR047528	VHS_STAM1	Domain
IPR050670	STAM	Family

Pfam: PF00018, PF00790, PF02809

UniProt features (35 total): helix 11, strand 6, modified residue 4, domain 4, splice variant 2, compositionally biased region 2, initiator methionine 1, chain 1, cross-link 1, sequence variant 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3F1I	X-RAY DIFFRACTION	2.3
3LDZ	X-RAY DIFFRACTION	2.6
2L0A	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92783-F1	68.54	0.35

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 (5): 198, 381, 384, 276, 156

Function

Pathways and Gene Ontology

Reactome pathways

24 pathways

ID	Pathway
R-HSA-182971	EGFR downregulation
R-HSA-5689901	Metalloprotease DUBs
R-HSA-6807004	Negative regulation of MET activity
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-8875360	InlB-mediated entry of Listeria monocytogenes into host cell
R-HSA-9013420	RHOU GTPase cycle
R-HSA-917729	Endosomal Sorting Complex Required For Transport (ESCRT)
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-177929	Signaling by EGFR
R-HSA-194315	Signaling by Rho GTPases
R-HSA-199991	Membrane Trafficking
R-HSA-392499	Metabolism of proteins
R-HSA-5653656	Vesicle-mediated transport
R-HSA-5663205	Infectious disease
R-HSA-5688426	Deubiquitination
R-HSA-597592	Post-translational protein modification
R-HSA-6806834	Signaling by MET
R-HSA-8876384	Listeria monocytogenes entry into host cells
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3
R-HSA-9824439	Bacterial Infection Pathways

MSigDB gene sets: 285 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, AHRARNT_01, REACTOME_ENDOSOMAL_SORTING_COMPLEX_REQUIRED_FOR_TRANSPORT_ESCRT, GOBP_ENDOSOME_ORGANIZATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS

GO Biological Process (8): signal transduction (GO:0007165), macroautophagy (GO:0016236), multivesicular body assembly (GO:0036258), protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043328), membrane fission (GO:0090148), positive regulation of exosomal secretion (GO:1903543), regulation of extracellular exosome assembly (GO:1903551), protein transport (GO:0015031)

GO Molecular Function (4): phosphatidylinositol binding (GO:0035091), ubiquitin binding (GO:0043130), ubiquitin-like protein ligase binding (GO:0044389), protein binding (GO:0005515)

GO Cellular Component (6): cytosol (GO:0005829), early endosome membrane (GO:0031901), ESCRT-0 complex (GO:0033565), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Membrane Trafficking	2
Signaling by Receptor Tyrosine Kinases	2
Signaling by EGFR	1
Deubiquitination	1
Signaling by MET	1
Clathrin-mediated endocytosis	1
Listeria monocytogenes entry into host cells	1
RHO GTPase cycle	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Vesicle-mediated transport	1
Disease	1
Post-translational protein modification	1
Metabolism of proteins	1
Bacterial Infection Pathways	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
autophagosome assembly	1
autophagy	1
multivesicular body organization	1
organelle assembly	1
intracellular protein transport	1
late endosome to vacuole transport via multivesicular body sorting pathway	1
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	1
protein localization to vacuole	1
establishment of protein localization to vacuole	1
membrane organization	1
positive regulation of cellular component biogenesis	1
positive regulation of exocytosis	1
regulation of exosomal secretion	1
exosomal secretion	1
extracellular exosome assembly	1
regulation of organelle assembly	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
anion binding	1
ubiquitin-like protein binding	1
enzyme binding	1
binding	1
cytoplasm	1
early endosome	1
endosome membrane	1
ESCRT complex	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

1582 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STAM	HGS	O14964	992
STAM	STAMBP	O95630	979
STAM	TSG101	Q99816	945
STAM	JAK3	P52333	818
STAM	EPS15	P42566	791
STAM	VPS36	Q86VN1	757
STAM	STAM2	O75886	747
STAM	CHMP4A	Q9BY43	734
STAM	USP8	P40818	727
STAM	VTA1	Q9NP79	691
STAM	VPS28	Q9UK41	669
STAM	STAP2	Q9UGK3	669
STAM	VPS25	Q9BRG1	664
STAM	CHMP6	Q96FZ7	663
STAM	JAK2	O60674	649

IntAct

106 interactions, top by confidence:

A	B	Type	Score
HGS	STAM	psi-mi:“MI:0915”(physical association)	0.860
STAM	HGS	psi-mi:“MI:0914”(association)	0.860
STAM	HGS	psi-mi:“MI:0915”(physical association)	0.860
TSG101	VPS37C	psi-mi:“MI:0914”(association)	0.780
STAM	STAMBP	psi-mi:“MI:0915”(physical association)	0.770
STAMBP	STAM	psi-mi:“MI:0407”(direct interaction)	0.770
STAM	STAMBP	psi-mi:“MI:0407”(direct interaction)	0.770
STAM	UBC	psi-mi:“MI:0407”(direct interaction)	0.770
UBC	STAM	psi-mi:“MI:0407”(direct interaction)	0.770
STAMBP	STAM	psi-mi:“MI:0915”(physical association)	0.770
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
HGS	STAM2	psi-mi:“MI:0914”(association)	0.550
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
LCP2	STAM	psi-mi:“MI:0407”(direct interaction)	0.440
STAM	LCP2	psi-mi:“MI:0407”(direct interaction)	0.440
UBB	STAM	psi-mi:“MI:0407”(direct interaction)	0.440
STAM	UBB	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (286): STAM (Protein-peptide), STAM (Reconstituted Complex), UBC (Protein-peptide), STAM (Biochemical Activity), HGS (Two-hybrid), GGA1 (Co-fractionation), STAM (Co-fractionation), STAM (Co-fractionation), STAM (Affinity Capture-MS), HGS (Affinity Capture-Western), STAM (Proximity Label-MS), STAM (Proximity Label-MS), STAM (Proximity Label-MS), UBC (Reconstituted Complex), STAM (Affinity Capture-Western)

ESM2 similar proteins: A1CEK1, A1CEK6, A1DFN5, A1DFP5, A2QW93, A2QWA2, A3LX75, A3LXQ8, A4QTV1, A4RF61, O01498, O14964, O43125, O88811, P0CR78, P0CR79, P0CS26, P0CS27, P38753, P70297, Q0CJU8, Q0CJV3, Q0U4Z8, Q0U6X7, Q0V8S0, Q1E878, Q2GS33, Q2GT05, Q4P5J4, Q4P7Q1, Q4WHN8, Q4WHP5, Q5A895, Q5BBK9, Q5BBL4, Q5XHY7, Q6BNP6, Q6BSD6, Q6C2N2, Q6CFT4

Diamond homologs: A0A0G2JV04, A3LXQ8, F4KAU9, O01498, O14964, O43747, O60784, O75843, O75886, O88512, O88746, O93436, P22892, P70297, Q0V8S0, Q5R5M2, Q68FJ8, Q6P5E6, Q8BMI3, Q8R0H9, Q92783, Q960X8, Q99LI8, Q9JJ50, Q9NZ52, Q9UJY4, Q9UJY5, A0JNJ1, A1CEK6, A1DFN5, A2QW93, A4RF61, A6QLK6, A7A261, F1LRS8, O35179, O35964, O43307, O74749, O75791

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
USP8	“up-regulates quantity”	STAM	binding
STAM	“form complex”	“ESCRT-0 complex”	binding
JAK2	up-regulates	STAM	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 103 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
Endosomal Sorting Complex Required For Transport (ESCRT)	7	34.9×	5e-07
Late endosomal microautophagy	7	30.9×	6e-07
Budding and maturation of HIV virion	5	27.6×	1e-04
Attenuation phase	5	27.6×	1e-04
HSF1-dependent transactivation	5	21.4×	3e-04
Regulation of HSF1-mediated heat shock response	6	11.3×	8e-04
Constitutive Signaling by Aberrant PI3K in Cancer	6	10.3×	1e-03
ER-Phagosome pathway	5	8.8×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	5	58.5×	6e-06
multivesicular body assembly	6	35.1×	6e-06
peptidyl-tyrosine phosphorylation	5	23.4×	4e-04
membrane fission	5	22.8×	4e-04
macroautophagy	6	16.1×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	76
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2159 predictions. Top by Δscore:

Variant	Effect	Δscore
10:17644376:GTTG:G	donor_gain	1.0000
10:17644377:TTGG:T	donor_loss	1.0000
10:17644379:GGT:G	donor_loss	1.0000
10:17660453:A:AG	acceptor_gain	1.0000
10:17660455:A:AG	acceptor_gain	1.0000
10:17660545:CTGG:C	donor_gain	1.0000
10:17660545:CTGGG:C	donor_loss	1.0000
10:17660546:TGG:T	donor_gain	1.0000
10:17660547:GG:G	donor_gain	1.0000
10:17660547:GGG:G	donor_gain	1.0000
10:17660548:GG:G	donor_gain	1.0000
10:17660549:G:GA	donor_loss	1.0000
10:17660549:G:GG	donor_gain	1.0000
10:17660550:T:TC	donor_loss	1.0000
10:17660551:AA:A	donor_loss	1.0000
10:17684672:TAG:T	acceptor_loss	1.0000
10:17684673:A:AG	acceptor_gain	1.0000
10:17684674:G:GG	acceptor_gain	1.0000
10:17684674:GACCT:G	acceptor_gain	1.0000
10:17684747:GACT:G	donor_gain	1.0000
10:17684749:CT:C	donor_gain	1.0000
10:17684751:G:GG	donor_gain	1.0000
10:17688021:TTACA:T	acceptor_loss	1.0000
10:17688022:TACA:T	acceptor_loss	1.0000
10:17688023:ACAG:A	acceptor_gain	1.0000
10:17688024:CA:C	acceptor_loss	1.0000
10:17688025:A:AG	acceptor_gain	1.0000
10:17688025:AG:A	acceptor_gain	1.0000
10:17688026:G:GC	acceptor_loss	1.0000
10:17688026:G:GT	acceptor_gain	1.0000

AlphaMissense

3575 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:17660499:T:A	W26R	1.000
10:17660499:T:C	W26R	1.000
10:17660501:G:C	W26C	1.000
10:17660501:G:T	W26C	1.000
10:17684689:T:C	L47P	1.000
10:17684707:G:C	R53T	1.000
10:17684708:A:C	R53S	1.000
10:17684708:A:T	R53S	1.000
10:17684727:C:G	H60D	1.000
10:17684731:T:A	V61D	1.000
10:17684734:C:A	A62D	1.000
10:17684742:G:C	A65P	1.000
10:17684743:C:A	A65D	1.000
10:17684746:T:G	L66W	1.000
10:17684833:T:A	L68H	1.000
10:17684833:T:C	L68P	1.000
10:17684836:T:C	L69P	1.000
10:17684884:G:A	C85Y	1.000
10:17684885:T:G	C85W	1.000
10:17684886:T:C	S86P	1.000
10:17684890:G:C	R87T	1.000
10:17684890:G:T	R87I	1.000
10:17684891:A:C	R87S	1.000
10:17684891:A:T	R87S	1.000
10:17688072:T:A	W115R	1.000
10:17688072:T:C	W115R	1.000
10:17688103:T:C	L125P	1.000
10:17688109:T:C	L127P	1.000
10:17688133:T:C	L135P	1.000
10:17695052:T:A	I180N	1.000

dbSNP variants (sampled 300 via entrez): RS1000012853 (10:17667088 A>G), RS1000172040 (10:17653010 G>T), RS1000185728 (10:17688332 A>G), RS1000203028 (10:17652760 G>A), RS1000361401 (10:17678505 C>G,T), RS1000366909 (10:17694361 G>A), RS1000385544 (10:17657346 T>G), RS1000492261 (10:17663308 T>A), RS1000521466 (10:17648041 A>G), RS1000570379 (10:17704945 A>G,T), RS1000580187 (10:17705245 A>G), RS1000619718 (10:17688622 C>G), RS1000758021 (10:17657586 C>T), RS1000772331 (10:17673979 G>A), RS1000878641 (10:17699973 T>C)

Disease associations

OMIM: gene MIM:601899 | 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: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, increases expression	2
cobaltous chloride	increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression	2
FR900359	affects phosphorylation	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
salinomycin	decreases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	increases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
AM 251	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Carmustine	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Furaldehyde	affects cotreatment, affects localization, decreases expression	1
Ivermectin	decreases expression	1
Phenobarbital	affects expression	1
Sodium Chloride	affects cotreatment, affects localization, decreases expression, increases expression	1
Testosterone	increases expression	1
Thiram	increases expression	1

Cellosaurus cell lines

5 cell lines: 3 cancer cell line, 2 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3ID	Abcam HEK293T STAM KO	Transformed cell line	Female
CVCL_D8BH	Ubigene A-549 STAM KO	Cancer cell line	Male
CVCL_D8WB	Ubigene HCT 116 STAM KO	Cancer cell line	Male
CVCL_D9T4	Ubigene HEK293 STAM KO	Transformed cell line	Female
CVCL_E0Q0	Ubigene HeLa STAM KO	Cancer cell line	Female

Clinical trials (associated diseases)

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