STAM2

Summary

STAM2 (signal transducing adaptor molecule 2, HGNC:11358) is a protein-coding gene on chromosome 2q23.3, encoding Signal transducing adapter molecule 2 (O75886). Involved in intracellular signal transduction mediated by cytokines and growth factors.

The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation.

Source: NCBI Gene 10254 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 83 total
• MANE Select transcript: NM_005843

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11358
Approved symbol	STAM2
Name	signal transducing adaptor molecule 2
Location	2q23.3
Locus type	gene with protein product
Status	Approved
Aliases	Hbp
Ensembl gene	ENSG00000115145
Ensembl biotype	protein_coding
OMIM	606244
Entrez	10254

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000263904, ENST00000463854, ENST00000465460, ENST00000482997, ENST00000489389, ENST00000494589, ENST00000865052, ENST00000865053, ENST00000968932, ENST00000968933

RefSeq mRNA: 1 — MANE Select: NM_005843 NM_005843

CCDS: CCDS2196

Canonical transcript exons

ENST00000263904 — 14 exons

Exon	Start	End
ENSE00000778080	152123766	152123935
ENSE00000840601	152126226	152126379
ENSE00001296024	152116801	152120802
ENSE00001351655	152175603	152175763
ENSE00003479043	152135509	152135603
ENSE00003485744	152150145	152150229
ENSE00003490074	152148225	152148300
ENSE00003531196	152147162	152147308
ENSE00003572899	152148024	152148122
ENSE00003584627	152133402	152133484
ENSE00003585661	152144888	152144957
ENSE00003595124	152132114	152132168
ENSE00003637851	152143827	152144013
ENSE00003657768	152133173	152133260

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 95.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.8118 / max 181.8984, expressed in 1791 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
31310	13.4212	1784
31309	1.6375	1021
31311	0.7531	442

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	95.93	gold quality
calcaneal tendon	UBERON:0003701	95.15	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.10	gold quality
tendon	UBERON:0000043	94.96	gold quality
bronchial epithelial cell	CL:0002328	94.85	gold quality
epithelium of nasopharynx	UBERON:0001951	94.11	gold quality
medial globus pallidus	UBERON:0002477	93.85	gold quality
oocyte	CL:0000023	93.71	gold quality
buccal mucosa cell	CL:0002336	93.23	gold quality
superficial temporal artery	UBERON:0001614	93.15	gold quality
globus pallidus	UBERON:0001875	93.01	gold quality
secondary oocyte	CL:0000655	92.52	gold quality
endothelial cell	CL:0000115	91.88	gold quality
renal medulla	UBERON:0000362	91.77	gold quality
germinal epithelium of ovary	UBERON:0001304	91.05	gold quality
parotid gland	UBERON:0001831	91.01	gold quality
lower lobe of lung	UBERON:0008949	90.78	gold quality
cardia of stomach	UBERON:0001162	90.46	gold quality
endometrium	UBERON:0001295	90.16	gold quality
subthalamic nucleus	UBERON:0001906	90.14	gold quality
visceral pleura	UBERON:0002401	90.07	gold quality
corpus callosum	UBERON:0002336	90.02	gold quality
superior surface of tongue	UBERON:0007371	89.96	gold quality
sperm	CL:0000019	89.80	gold quality
adrenal tissue	UBERON:0018303	89.78	gold quality
trigeminal ganglion	UBERON:0001675	89.69	gold quality
ventral tegmental area	UBERON:0002691	89.57	gold quality
caput epididymis	UBERON:0004358	89.48	gold quality
pigmented layer of retina	UBERON:0001782	89.43	gold quality
retina	UBERON:0000966	89.41	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

184 targeting STAM2, 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-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4282	99.99	75.36	6408
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-4803	99.98	71.99	3117
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-302E	99.96	70.74	2669

Literature-anchored findings (GeneRIF, showing 15)

• Data suggested that association with hepatocyte growth factor-regulated tyrosine kinase substrate is a prerequisite for STAM2 function in early endosome. (PMID:15113837)
• Rin1 regulates EGFR degradation in cooperation with STAM (PMID:17403676)
• STAMs function prominently in endoplasmic reticulum-to-Golgi trafficking, most likely through direct interactions with the coat protein II complex (PMID:19054391)
• PTP1B targets the endosomal sorting machinery; dephosphorylation of regulatory sites on the endosomal sorting complex is required for transport component STAM2 (PMID:20504764)
• The study reports the solution NMR structure of the STAM2-VHS domain in complex with monoubiquitin by means of chemical shift perturbations, spin relaxation, and paramagnetic relaxation enhancements. (PMID:21121635)
• Mice carrying a gene trap insertion in the Stam2 transgene do not reveal phenotype changes; therefore, STAM2 function in the digestive tube remains elusive. (PMID:22140097)
• report the interactions of the UIM domain and VHS-UIM construct of STAM2 with monoubiquitin (Ub), Lys(48)- and Lys(63)-linked diubiquitins. (PMID:22493438)
• the SH3 domain of STAM2 plays versatile roles in the context of ubiquitin mediated receptor sorting (PMID:22841719)
• correlation between the percentage of STAM2-positive cells and mitotic count was statistically significant in Gastrointestinal stromal tumors (PMID:24778033)
• The VHS domain of STAM2 directs AMSH to cleave longer Lys63-linked ubiquitin chains (PMID:26601948)
• homologous domain of human Bro1 domain-containing proteins, Alix and Brox, binds CHMP4B but not STAM2, despite their high structural similarity (PMID:26866605)
• The authors propose a structural organization where the AMSH-SH3 binding motif interacts with the STAM2-SH3 domain and contributes to the correct positioning of AMSH prior to polyubiquitin chains’ cleavage. (PMID:27725184)
• Molecular recognition of ubiquitin and Lys63-linked diubiquitin by STAM2 UIM-SH3 dual domain: the effect of its linker length and flexibility. (PMID:31601934)
• STAM2 knockdown inhibits proliferation, migration, and invasion by affecting the JAK2/STAT3 signaling pathway in gastric cancer. (PMID:33778841)
• GRASLND regulates melanoma cell progression by targeting the miR-218-5p/STAM2 axis. (PMID:39060946)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	stam2	ENSDARG00000005318
mus_musculus	Stam2	ENSMUSG00000055371
rattus_norvegicus	Stam2	ENSRNOG00000027447
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), GGA3 (ENSG00000125447), STAM (ENSG00000136738), WDFY2 (ENSG00000139668), TOM1L1 (ENSG00000141198), TOM1L2 (ENSG00000175662), HGS (ENSG00000185359)

Protein

Protein identifiers

Signal transducing adapter molecule 2 — O75886 (reviewed: O75886)

Alternative names: Hrs-binding protein

All UniProt accessions (1): O75886

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.

Subunit / interactions. Component of the ESCRT-0 complex composed of STAM or STAM2 and HGS. Part of a complex at least composed of HSG, STAM2 and EPS15. Interacts with JAK2 and JAK3. Interacts with ubiquitinated proteins and the deubiquitinating enzyme USP8/UBPY. Interacts (via the via the PxVxL motif) with CBX5; the interaction is direct. Interacts with VPS37C. Interacts with ubiquitin; the interaction is direct. Interacts (via UIM domain) with UBQLN1 (via ubiquitin-like domain).

Subcellular location. Cytoplasm. Early endosome membrane.

Tissue specificity. Ubiquitously expressed.

Post-translational modifications. Phosphorylated in response to IL-2, GM-CSF, EGF and PDGF.

Domain organisation. The VHS and UIM domains mediate the interaction with ubiquitinated proteins. The SH3 domain mediates the interaction with USP8. Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.

Similarity. Belongs to the STAM family.

Isoforms (2)

UniProt ID	Names	Canonical?
O75886-1	1, STAM2A	yes
O75886-2	2, STAM2B

RefSeq proteins (1): NP_005834* (*=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
IPR035675	STAM2_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR047493	VHS_STAM2	Domain
IPR050670	STAM	Family

Pfam: PF00018, PF00790, PF02809

UniProt features (36 total): helix 11, strand 8, domain 4, sequence conflict 3, turn 3, region of interest 3, chain 1, splice variant 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
5CRV	X-RAY DIFFRACTION	2
1X2Q	SOLUTION NMR
1X5B	SOLUTION NMR
2L0T	SOLUTION NMR
5IXF	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75886-F1	69.31	0.39

Function

Pathways and Gene Ontology

Reactome pathways

24 pathways

ID	Pathway
R-HSA-182971	EGFR downregulation
R-HSA-5689880	Ub-specific processing proteases
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: 237 (showing top): REACTOME_ENDOSOMAL_SORTING_COMPLEX_REQUIRED_FOR_TRANSPORT_ESCRT, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_ENDOSOME_ORGANIZATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, BROWNE_HCMV_INFECTION_12HR_UP

GO Biological Process (6): 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), protein transport (GO:0015031)

GO Molecular Function (3): phosphatidylinositol binding (GO:0035091), ubiquitin binding (GO:0043130), protein binding (GO:0005515)

GO Cellular Component (8): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), endocytic vesicle (GO:0030139), early endosome membrane (GO:0031901), ESCRT-0 complex (GO:0033565), 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	4
cytoplasmic vesicle	2
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
transport	1
intracellular protein localization	1
establishment of protein localization	1
anion binding	1
ubiquitin-like protein binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
early endosome	1
endosome membrane	1
ESCRT complex	1
endomembrane system	1

Protein interactions and networks

STRING

1762 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STAM2	STAMBP	O95630	996
STAM2	HGS	O14964	992
STAM2	USP8	P40818	913
STAM2	JAK3	P52333	869
STAM2	TSG101	Q99816	811
STAM2	EPS15	P42566	807
STAM2	CHMP3	Q9Y3E7	786
STAM2	A0A140T963	A0A140T963	786
STAM2	PTPN23	Q9H3S7	764
STAM2	JAK2	O60674	753
STAM2	STAM	Q92783	747
STAM2	CHMP1B	Q7LBR1	683
STAM2	RAB5A	P20339	646
STAM2	VPS36	Q86VN1	645
STAM2	VPS28	Q9UK41	643

IntAct

255 interactions, top by confidence:

A	B	Type	Score
STAM2	LITAF	psi-mi:“MI:0915”(physical association)	0.850
LITAF	STAM2	psi-mi:“MI:0915”(physical association)	0.850
STAM2	STAMBP	psi-mi:“MI:0915”(physical association)	0.840
STAMBP	STAM2	psi-mi:“MI:0915”(physical association)	0.840
STAM2	STAMBP	psi-mi:“MI:0407”(direct interaction)	0.840
STAM2	TIMM8A	psi-mi:“MI:0915”(physical association)	0.810
TIMM8A	STAM2	psi-mi:“MI:0915”(physical association)	0.810
STAM2	LCP2	psi-mi:“MI:0915”(physical association)	0.790
LCP2	STAM2	psi-mi:“MI:0915”(physical association)	0.790
DAZAP2	STAM2	psi-mi:“MI:0915”(physical association)	0.780
STAM2	DAZAP2	psi-mi:“MI:0915”(physical association)	0.780

BioGRID (248): STAM2 (Two-hybrid), STAM2 (Two-hybrid), STAM2 (Two-hybrid), STAM2 (Two-hybrid), STAM2 (Two-hybrid), STAM2 (Two-hybrid), PLEKHB2 (Two-hybrid), VPS37C (Two-hybrid), KLHL42 (Two-hybrid), ARRDC3 (Two-hybrid), SH2D4A (Two-hybrid), STAM2 (Protein-peptide), STAM2 (Reconstituted Complex), STAM2 (Reconstituted Complex), STAM2 (Affinity Capture-Western)

ESM2 similar proteins: A1CEK1, A1CEK6, A1DFP5, A3LX75, A3LXQ8, A4QTV1, A5DDB7, O01498, O13773, O13821, O60167, O75886, O88811, O94685, P0CS26, P0CS27, P25644, P34216, P34643, P38753, P38856, P40343, P53617, P70297, Q0U4Z8, Q12518, Q1E878, Q2GS33, Q4WHN8, Q4WHP5, Q5A895, Q5ABD9, Q5AHB1, Q5AL52, Q5BBK9, Q5XHY7, Q6BMF7, Q6BNP6, Q6BNY5, Q6BSD6

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

2 interactions.

A	Effect	B	Mechanism
PTPN1	“up-regulates quantity by stabilization”	STAM2	dephosphorylation
EGFR	unknown	STAM2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 72 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
Cargo recognition for clathrin-mediated endocytosis	6	13.1×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2186 predictions. Top by Δscore:

Variant	Effect	Δscore
2:152123931:TATGT:T	acceptor_gain	1.0000
2:152123933:TGT:T	acceptor_gain	1.0000
2:152123934:GTCTA:G	acceptor_loss	1.0000
2:152123936:C:CC	acceptor_gain	1.0000
2:152123937:T:C	acceptor_loss	1.0000
2:152123945:A:T	acceptor_gain	1.0000
2:152126221:CTCA:C	donor_loss	1.0000
2:152126222:TCAC:T	donor_loss	1.0000
2:152126223:CACC:C	donor_loss	1.0000
2:152126379:CCTGA:C	acceptor_gain	1.0000
2:152132110:TCA:T	donor_loss	1.0000
2:152132111:CAC:C	donor_loss	1.0000
2:152132168:TC:T	acceptor_loss	1.0000
2:152132169:C:CA	acceptor_loss	1.0000
2:152132169:C:CC	acceptor_gain	1.0000
2:152133169:GTAC:G	donor_loss	1.0000
2:152133171:A:C	donor_loss	1.0000
2:152133172:CCTTC:C	donor_loss	1.0000
2:152133259:TC:T	acceptor_gain	1.0000
2:152133260:CC:C	acceptor_gain	1.0000
2:152133261:C:CC	acceptor_gain	1.0000
2:152133261:C:G	acceptor_loss	1.0000
2:152133262:T:C	acceptor_loss	1.0000
2:152133396:CCCTA:C	donor_loss	1.0000
2:152133397:CCTA:C	donor_loss	1.0000
2:152133398:CTACC:C	donor_loss	1.0000
2:152133399:TACC:T	donor_loss	1.0000
2:152133400:ACCT:A	donor_loss	1.0000
2:152133401:C:CT	donor_loss	1.0000
2:152133481:GCCG:G	acceptor_gain	1.0000

AlphaMissense

3462 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:152126336:C:G	A357P	1.000
2:152135591:C:A	W239C	1.000
2:152135591:C:G	W239C	1.000
2:152135593:A:G	W239R	1.000
2:152135593:A:T	W239R	1.000
2:152143869:A:G	L221P	1.000
2:152148121:A:G	L68P	1.000
2:152148233:C:G	A65P	1.000
2:152148244:A:T	V61D	1.000
2:152150192:C:A	W26C	1.000
2:152150192:C:G	W26C	1.000
2:152150194:A:G	W26R	1.000
2:152150194:A:T	W26R	1.000
2:152135543:A:C	F255L	0.999
2:152135543:A:T	F255L	0.999
2:152135545:A:G	F255L	0.999
2:152135553:G:T	P252Q	0.999
2:152135554:G:A	P252S	0.999
2:152135554:G:T	P252T	0.999
2:152135556:A:G	F251S	0.999
2:152135562:C:T	G249E	0.999
2:152135583:C:T	G242E	0.999
2:152135584:C:G	G242R	0.999
2:152135584:C:T	G242R	0.999
2:152135592:C:G	W239S	0.999
2:152143892:A:C	F213L	0.999
2:152143892:A:T	F213L	0.999
2:152143894:A:G	F213L	0.999
2:152143905:G:T	A209D	0.999
2:152147263:A:G	W116R	0.999

dbSNP variants (sampled 300 via entrez): RS1000003652 (2:152122573 C>G), RS1000103214 (2:152122995 C>G,T), RS1000130183 (2:152161465 C>G), RS1000148343 (2:152166482 C>G,T), RS1000395840 (2:152161770 G>A), RS1000401849 (2:152153662 C>T), RS1000417479 (2:152147592 A>G), RS1000447944 (2:152166182 C>G), RS1000471596 (2:152150878 AT>A,ATT), RS1000530449 (2:152124906 A>G), RS1000536803 (2:152165792 A>T), RS1000590645 (2:152142859 C>A), RS1000660613 (2:152141659 C>T), RS1000667462 (2:152155610 T>C), RS1000671015 (2:152130936 C>T)

Disease associations

OMIM: gene MIM:606244 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002181_2	Adverse response to chemotherapy in breast cancer (alopecia)	3.000000e-08
GCST006629_81	Pulse pressure	2.000000e-13
GCST008146_1	Metabolic syndrome	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0000195	metabolic syndrome

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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	increases expression, affects cotreatment	5
sodium arsenite	increases abundance, increases expression	2
ochratoxin A	decreases expression	2
mercuric bromide	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
methylmercuric chloride	decreases expression, increases expression	1
bisphenol A	affects cotreatment, affects expression, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
NSC 689534	affects binding, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Panobinostat	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	increases abundance, increases expression	1
Hexachlorocyclohexane	increases expression	1
Benzo(a)pyrene	increases expression	1
Calcitriol	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D8BI	Ubigene A-549 STAM2 KO	Cancer cell line	Male
CVCL_D8WC	Ubigene HCT 116 STAM2 KO	Cancer cell line	Male
CVCL_D9T5	Ubigene HEK293 STAM2 KO	Transformed cell line	Female
CVCL_E0Q1	Ubigene HeLa STAM2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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