VTI1B

Summary

VTI1B (vesicle transport through interaction with t-SNAREs 1B, HGNC:17793) is a protein-coding gene on chromosome 14q24.1, encoding Vesicle transport through interaction with t-SNAREs homolog 1B (Q9UEU0). V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. It is a selective cancer dependency (DepMap: 20.4% of cell lines).

Enables SNARE binding activity and chloride channel inhibitor activity. Involved in regulation of protein localization to plasma membrane. Located in several cellular components, including endosome membrane; lysosomal membrane; and perinuclear region of cytoplasm.

Source: NCBI Gene 10490 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 1 total
• Cancer dependency (DepMap): dependent in 20.4% of screened cell lines
• MANE Select transcript: NM_006370

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17793
Approved symbol	VTI1B
Name	vesicle transport through interaction with t-SNAREs 1B
Location	14q24.1
Locus type	gene with protein product
Status	Approved
Aliases	VTI2
Ensembl gene	ENSG00000100568
Ensembl biotype	protein_coding
OMIM	603207
Entrez	10490

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 10 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000216456, ENST00000553619, ENST00000554636, ENST00000554659, ENST00000555543, ENST00000556461, ENST00000890610, ENST00000890611, ENST00000890612, ENST00000890613, ENST00000890614, ENST00000928042, ENST00000928043

RefSeq mRNA: 1 — MANE Select: NM_006370 NM_006370

CCDS: CCDS9786

Canonical transcript exons

ENST00000554659 — 6 exons

Exon	Start	End
ENSE00002479186	67674375	67674632
ENSE00002481109	67647085	67651481
ENSE00003499505	67662477	67662535
ENSE00003550041	67653437	67653498
ENSE00003605649	67659731	67659922
ENSE00003638944	67656416	67656589

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 98.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.9656 / max 324.5565, expressed in 1823 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143751	49.7796	1820
143752	2.3205	1384
143753	0.8655	550

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	98.60	gold quality
amygdala	UBERON:0001876	98.34	gold quality
anterior cingulate cortex	UBERON:0009835	98.13	gold quality
spinal cord	UBERON:0002240	98.12	gold quality
cingulate cortex	UBERON:0003027	98.11	gold quality
nucleus accumbens	UBERON:0001882	98.04	gold quality
prefrontal cortex	UBERON:0000451	98.03	gold quality
right frontal lobe	UBERON:0002810	97.90	gold quality
caudate nucleus	UBERON:0001873	97.86	gold quality
putamen	UBERON:0001874	97.86	gold quality
cortical plate	UBERON:0005343	97.54	gold quality
hypothalamus	UBERON:0001898	97.50	gold quality
cranial nerve II	UBERON:0000941	97.46	gold quality
apex of heart	UBERON:0002098	97.45	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.43	gold quality
mucosa of transverse colon	UBERON:0004991	97.38	gold quality
adipose tissue of abdominal region	UBERON:0007808	97.29	gold quality
omental fat pad	UBERON:0010414	97.26	gold quality
peritoneum	UBERON:0002358	97.25	gold quality
adipose tissue	UBERON:0001013	97.21	gold quality
frontal cortex	UBERON:0001870	97.17	gold quality
right atrium auricular region	UBERON:0006631	97.17	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.14	gold quality
neocortex	UBERON:0001950	97.12	gold quality
tendon of biceps brachii	UBERON:0008188	97.10	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.10	gold quality
stromal cell of endometrium	CL:0002255	97.04	gold quality
substantia nigra	UBERON:0002038	97.02	gold quality
medial globus pallidus	UBERON:0002477	97.02	gold quality
connective tissue	UBERON:0002384	97.00	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6524	no	177.20
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting VTI1B, 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-513B-5P	99.99	69.96	2150
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-154-3P	99.50	70.05	831
HSA-MIR-487A-3P	99.50	69.95	840
HSA-MIR-140-5P	99.44	67.20	792
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-4326	98.97	67.63	962
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-4457	98.09	67.12	1274
HSA-MIR-3074-3P	97.83	67.26	922
HSA-MIR-4724-3P	97.57	67.31	785
HSA-MIR-6813-3P	95.78	63.78	540
HSA-MIR-3200-3P	95.41	64.23	396

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 20.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• A dual mechanism controlling the localization and function of exocytic v-SNAREs. (PMID:12853575)
• Ca(2+) dissociates the Hrs-containing complex but not the VAMP-2-containing SNARE complex (PMID:14769786)
• epsin 4 epsin-related protein is an adaptor for vti1b (PMID:15371541)
• Results report that syntaxin 7, syntaxin 8, vti1b and VAMP8 physically and functionally interact with CFTR. (PMID:18570918)
• Results suggest that the combinational SNARE proteins VAMP8 and Vti1b mediate the fusion of antimicrobial and canonical autophagosomes with lysosomes, an essential event for autophagic degradation. (PMID:20089838)
• Vti1b-dependent tethering of Lytic granule and CD3-endo determines accumulation, docking, and efficient lytic granule secretion at the immunological synapse. (PMID:21562157)
• RABGEF1 mediates recycling endosome fusion with GAS-containing autophagosome-like vacuoles through the STX6-VAMP3-VTI1B complex; SNAREs are involved in autophagosome formation in response to bacterial infection (PMID:27791468)
• the VTI1B rs15493 SNP had no impact on the susceptibility to Pulmonary Tuberculosis (p > 0.05). (PMID:30945947)
• PTPN9-mediated dephosphorylation of VTI1B promotes ATG16L1 precursor fusion and autophagosome formation. (PMID:33112705)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	vti1b	ENSDARG00000039270
mus_musculus	Vti1b	ENSMUSG00000021124
rattus_norvegicus	Vti1b	ENSRNOG00000060436
drosophila_melanogaster	Vti1b	FBGN0264751

Paralogs (2): GOSR2 (ENSG00000108433), VTI1A (ENSG00000151532)

Protein

Protein identifiers

Vesicle transport through interaction with t-SNAREs homolog 1B — Q9UEU0 (reviewed: Q9UEU0)

Alternative names: Vesicle transport v-SNARE protein Vti1-like 1, Vti1-rp1

All UniProt accessions (5): Q9UEU0, G3V5I2, H0YJJ5, H0YJL5, J3KMW2

UniProt curated annotations — full annotation on UniProt →

Function. V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. May be concerned with increased secretion of cytokines associated with cellular senescence.

Subunit / interactions. Forms a SNARE complex with STX7, STX8 and VAMP8 which functions in the homotypic fusion of late endosomes. Component of the SNARE complex composed of STX7, STX8, VAMP7 and VIT1B that is required for heterotypic fusion of late endosomes with lysosomes. May interact with STX17. Interacts with CLINT1.

Subcellular location. Early endosome membrane. Late endosome membrane. Lysosome membrane. Cytoplasmic granule. Recycling endosome membrane.

Tissue specificity. Expressed in all tissues examined.

Similarity. Belongs to the VTI1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UEU0-1	Long	yes
Q9UEU0-2	Short

RefSeq proteins (1): NP_006361* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000727	T_SNARE_dom	Domain
IPR007705	Vesicle_trsprt_v-SNARE_N	Domain
IPR010989	SNARE	Homologous_superfamily
IPR038407	v-SNARE_N_sf	Homologous_superfamily

Pfam: PF05008, PF12352

UniProt features (29 total): mutagenesis site 8, modified residue 4, helix 3, topological domain 2, turn 2, region of interest 2, coiled-coil region 2, initiator methionine 1, chain 1, splice variant 1, sequence conflict 1, strand 1, transmembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2V8S	X-RAY DIFFRACTION	2.22

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UEU0-F1	83.75	0.43

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 (4): 103, 107, 138, 2

Mutagenesis-validated functional residues (8):

Position	Phenotype
8	abolished binding to clint1.
12	abolished binding to clint1. abnormal subcellular localization restricted to late endosomes and lysosomes.
17	normal binding to clint1.
23	abolished binding to clint1. rescued binding to clint1 e-146 mutant.
65	abolished binding to clint1.
73	abolished binding to clint1. abnormal subcellular localization restricted to late endosomes and lysosomes.
76	reduced binding to clint1.
77	normal binding to clint1.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation

MSigDB gene sets: 209 (showing top): MORF_RAB5A, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, KAAB_FAILED_HEART_ATRIUM_DN, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_MACROAUTOPHAGY

GO Biological Process (11): intracellular protein transport (GO:0006886), intra-Golgi vesicle-mediated transport (GO:0006891), Golgi to vacuole transport (GO:0006896), obsolete vesicle docking involved in exocytosis (GO:0006904), vesicle-mediated transport (GO:0016192), macroautophagy (GO:0016236), retrograde transport, endosome to Golgi (GO:0042147), vesicle fusion with Golgi apparatus (GO:0048280), membrane fusion (GO:0061025), regulation of protein localization to plasma membrane (GO:1903076), protein transport (GO:0015031)

GO Molecular Function (4): SNARE binding (GO:0000149), SNAP receptor activity (GO:0005484), chloride channel inhibitor activity (GO:0019869), protein binding (GO:0005515)

GO Cellular Component (22): extracellular region (GO:0005576), lysosomal membrane (GO:0005765), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cytosol (GO:0005829), synaptic vesicle (GO:0008021), ER to Golgi transport vesicle membrane (GO:0012507), platelet alpha granule lumen (GO:0031093), SNARE complex (GO:0031201), early endosome membrane (GO:0031901), late endosome membrane (GO:0031902), vesicle (GO:0031982), neuronal cell body (GO:0043025), perinuclear region of cytoplasm (GO:0048471), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), presynaptic endosome membrane (GO:0098954), cytoplasm (GO:0005737), lysosome (GO:0005764), endosome (GO:0005768), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	4
endosome membrane	4
intracellular protein localization	2
Golgi vesicle transport	2
intercellular transport	2
transport	2
endomembrane system	2
protein transport	1
intracellular transport	1
post-Golgi vesicle-mediated transport	1
vacuolar transport	1
cellular process	1
autophagosome assembly	1
autophagy	1
endosomal transport	1
cytosolic transport	1
vesicle fusion	1
Golgi organization	1
membrane organization	1
protein localization to plasma membrane	1
regulation of protein localization to cell periphery	1
regulation of protein localization to membrane	1
establishment of protein localization	1
protein binding	1
protein-macromolecule adaptor activity	1
membrane fusion	1
fusogenic activity	1
chloride channel activity	1
ion channel inhibitor activity	1
chloride channel regulator activity	1
binding	1
lysosome	1
lytic vacuole membrane	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular membrane-bounded organelle	1
exocytic vesicle	1
presynapse	1

Protein interactions and networks

STRING

2236 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VTI1B	STX7	O15400	997
VTI1B	VAMP8	Q9BV40	996
VTI1B	STX8	Q9UNK0	996
VTI1B	CLINT1	Q14677	987
VTI1B	STX6	O43752	985
VTI1B	VAMP7	P51809	984
VTI1B	STX5	Q13190	982
VTI1B	YKT6	O15498	979
VTI1B	GOSR2	O14653	956
VTI1B	BET1	O15155	945
VTI1B	GOSR1	O95249	922
VTI1B	SEC22B	O75396	882
VTI1B	VAMP4	O75379	873
VTI1B	SEC22A	Q96IW7	846
VTI1B	SCFD1	Q8WVM8	844

IntAct

282 interactions, top by confidence:

A	B	Type	Score
STX8	VTI1B	psi-mi:“MI:0915”(physical association)	0.920
VTI1B	STX8	psi-mi:“MI:0915”(physical association)	0.920
MED21	MED19	psi-mi:“MI:0914”(association)	0.880
LDLRAD1	VTI1B	psi-mi:“MI:0915”(physical association)	0.780
VTI1B	TRIM59	psi-mi:“MI:0915”(physical association)	0.780
VTI1B	LDLRAD1	psi-mi:“MI:0915”(physical association)	0.780
TRIM59	VTI1B	psi-mi:“MI:0915”(physical association)	0.780
NAPA	SNAP23	psi-mi:“MI:0914”(association)	0.780
DCTN2	DCTN6	psi-mi:“MI:0914”(association)	0.730
EXOC1	EXOC5	psi-mi:“MI:0914”(association)	0.730
STAMBP	PIK3C2A	psi-mi:“MI:0914”(association)	0.730
STX4	VTI1B	psi-mi:“MI:0915”(physical association)	0.720
VTI1B	STX4	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
VTI1B	PTPN5	psi-mi:“MI:0915”(physical association)	0.670
SYNE4	VTI1B	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (382): VTI1B (Two-hybrid), PTPN5 (Two-hybrid), SYNE4 (Two-hybrid), TRIM59 (Two-hybrid), KRTAP10-7 (Two-hybrid), LDLRAD1 (Two-hybrid), CAND2 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), RNF13 (Affinity Capture-MS), EIF2B1 (Affinity Capture-MS), CCDC9 (Affinity Capture-MS), EIF2B4 (Affinity Capture-MS), IPO7 (Affinity Capture-MS), NAPA (Affinity Capture-MS), IPO9 (Affinity Capture-MS)

ESM2 similar proteins: G3V7P1, O08522, O14662, O15400, O22151, O43752, O49377, O60499, O64791, O70257, O70439, O70480, O75379, O88384, O88630, O88983, O95249, P58200, Q08851, Q08DB5, Q13190, Q2KIU0, Q2TBU3, Q32L97, Q3T075, Q3ZBT5, Q5R602, Q5R6Q2, Q5RBL6, Q5RBW6, Q5RF94, Q5SRX1, Q5ZL19, Q62931, Q63635, Q86Y82, Q8BVI5, Q8K1E0, Q944A9, Q946Y7

Diamond homologs: O88384, O89116, P58200, P78768, Q2KIU0, Q96AJ9, Q9JI51, Q9SEL5, Q9UEU0, Q04338, Q9LVP9, Q9SEL6, Q54CK6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 133 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
Golgi Associated Vesicle Biogenesis	13	29.3×	1e-13
trans-Golgi Network Vesicle Budding	9	25.7×	1e-08
Intra-Golgi traffic	7	20.4×	3e-06
Lysosome Vesicle Biogenesis	5	18.3×	3e-04
Retrograde transport at the Trans-Golgi-Network	7	17.3×	8e-06
COPII-mediated vesicle transport	7	12.8×	5e-05
Clathrin-mediated endocytosis	12	11.5×	6e-08
Translocation of SLC2A4 (GLUT4) to the plasma membrane	5	8.7×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle docking	9	62.1×	3e-12
vesicle fusion	11	59.6×	8e-15
clathrin coat assembly	5	40.0×	1e-05
intra-Golgi vesicle-mediated transport	5	23.7×	2e-04
exocytosis	13	17.8×	9e-11
cellular response to type II interferon	6	11.2×	1e-03
receptor-mediated endocytosis	5	10.0×	4e-03
intracellular protein transport	16	9.3×	3e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1368 predictions. Top by Δscore:

Variant	Effect	Δscore
14:67646919:A:AG	acceptor_gain	1.0000
14:67646920:G:GG	acceptor_gain	1.0000
14:67646920:GTT:G	acceptor_gain	1.0000
14:67646920:GTTTT:G	acceptor_gain	1.0000
14:67647021:GGCAA:G	donor_gain	1.0000
14:67647022:GCAAG:G	donor_gain	1.0000
14:67647024:AAG:A	donor_loss	1.0000
14:67647025:AGT:A	donor_loss	1.0000
14:67647026:G:A	donor_loss	1.0000
14:67647026:G:GG	donor_gain	1.0000
14:67647027:T:G	donor_loss	1.0000
14:67648042:TTTA:T	acceptor_loss	1.0000
14:67648043:TTA:T	acceptor_loss	1.0000
14:67648045:A:AG	acceptor_gain	1.0000
14:67648045:A:C	acceptor_loss	1.0000
14:67648045:AG:A	acceptor_gain	1.0000
14:67648046:G:GA	acceptor_gain	1.0000
14:67648046:GG:G	acceptor_gain	1.0000
14:67648046:GGA:G	acceptor_gain	1.0000
14:67648046:GGAGA:G	acceptor_gain	1.0000
14:67648152:C:T	donor_gain	1.0000
14:67648180:ACAG:A	donor_loss	1.0000
14:67648181:CAG:C	donor_loss	1.0000
14:67648182:AG:A	donor_loss	1.0000
14:67648183:GG:G	donor_loss	1.0000
14:67648185:T:A	donor_loss	1.0000
14:67650711:CCAG:C	acceptor_loss	1.0000
14:67650713:AG:A	acceptor_gain	1.0000
14:67650714:G:A	acceptor_loss	1.0000
14:67650714:GG:G	acceptor_gain	1.0000

AlphaMissense

1506 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:67656499:C:G	A153P	0.999
14:67653466:A:C	S191R	0.998
14:67653466:A:T	S191R	0.998
14:67653468:T:G	S191R	0.998
14:67656532:C:G	A142P	0.998
14:67662488:C:G	A55P	0.998
14:67656498:G:T	A153D	0.997
14:67656456:A:G	L167P	0.996
14:67656477:C:T	G160D	0.996
14:67656511:A:G	S149P	0.996
14:67656513:C:G	R148P	0.996
14:67656540:A:G	L139P	0.996
14:67656435:A:G	L174S	0.995
14:67653497:A:G	L181P	0.994
14:67656444:C:G	R171P	0.994
14:67656489:G:A	T156I	0.994
14:67651423:C:G	G221R	0.993
14:67651423:C:T	G221R	0.993
14:67653455:A:G	L195P	0.993
14:67653464:C:G	R192P	0.993
14:67656429:C:G	R176P	0.993
14:67656447:T:G	Q170P	0.993
14:67659912:A:C	M62R	0.993
14:67651420:C:G	G222R	0.991
14:67656478:C:G	G160R	0.991
14:67656490:T:G	T156P	0.991
14:67656504:C:G	R151P	0.991
14:67659891:G:T	A69E	0.991
14:67651464:A:G	L207P	0.990
14:67653444:A:G	S199P	0.990

dbSNP variants (sampled 300 via entrez): RS1000063042 (14:67674522 G>A), RS1000217868 (14:67668459 G>A), RS1000225518 (14:67658551 T>C), RS1000562152 (14:67662995 C>T), RS1000830996 (14:67657589 C>T), RS1000971957 (14:67651124 T>C), RS1001037381 (14:67662391 CA>C), RS1001118298 (14:67656937 G>C), RS1001169872 (14:67657273 T>A), RS1001225281 (14:67667055 C>A), RS1001392546 (14:67654751 C>G,T), RS1001549646 (14:67656630 T>C), RS1001669881 (14:67651183 G>A,T), RS1001687084 (14:67660286 G>A), RS1001890628 (14:67649038 G>C,T)

Disease associations

OMIM: gene MIM:603207 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_654	Blood protein levels	9.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs3742879	ARG2, VTI1B		0.00	0

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	3
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
coumarin	decreases phosphorylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Heroin	decreases expression	1
Doxorubicin	affects expression	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Vitamin E	increases expression	1
Fatty Acids, Omega-3	increases expression	1
Cyclosporine	decreases expression	1
Asbestos, Crocidolite	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Fatty Acids, Omega-6	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2L7	Abcam HeLa VTI1B KO	Cancer cell line	Female

Clinical trials (associated diseases)

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