GVQW3

Summary

GVQW3 (GVQW motif containing 3, HGNC:51239) is a protein-coding gene on chromosome 11q13.5, encoding Protein GVQW3 (Q3ZCU0).

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001347885

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51239
Approved symbol	GVQW3
Name	GVQW motif containing 3
Location	11q13.5
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000179240
Ensembl biotype	protein_coding
Entrez	100506127

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000321844, ENST00000529331, ENST00000530460, ENST00000531207, ENST00000531785, ENST00000534586, ENST00000607673, ENST00000662483, ENST00000663165, ENST00000667240, ENST00000673806

RefSeq mRNA: 4 — MANE Select: NM_001347885 NM_001282456, NM_001305225, NM_001347884, NM_001347885

CCDS: CCDS73348, CCDS81599, CCDS86231, CCDS91541

Canonical transcript exons

ENST00000529331 — 2 exons

Exon	Start	End
ENSE00002166488	76381323	76382293
ENSE00002182624	76403660	76408132

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 79.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.0027 / max 107.3570, expressed in 1261 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115938	4.8651	1253
115939	0.1376	63

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	79.04	gold quality
body of pancreas	UBERON:0001150	77.49	gold quality
buccal mucosa cell	CL:0002336	77.16	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.00	gold quality
cerebellar hemisphere	UBERON:0002245	76.92	gold quality
cerebellar cortex	UBERON:0002129	76.91	gold quality
cerebellum	UBERON:0002037	76.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	76.46	gold quality
ganglionic eminence	UBERON:0004023	76.40	gold quality
right uterine tube	UBERON:0001302	75.48	gold quality
ventricular zone	UBERON:0003053	75.04	gold quality
epithelium of nasopharynx	UBERON:0001951	75.03	gold quality
primary visual cortex	UBERON:0002436	75.03	gold quality
Brodmann (1909) area 23	UBERON:0013554	74.54	gold quality
middle temporal gyrus	UBERON:0002771	74.21	gold quality
calcaneal tendon	UBERON:0003701	74.07	gold quality
prefrontal cortex	UBERON:0000451	73.76	gold quality
pancreas	UBERON:0001264	73.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.13	gold quality
adrenal tissue	UBERON:0018303	72.99	gold quality
cerebellar vermis	UBERON:0004720	72.86	silver quality
occipital lobe	UBERON:0002021	71.85	gold quality
neocortex	UBERON:0001950	71.83	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	71.82	gold quality
frontal cortex	UBERON:0001870	71.79	gold quality
mucosa of paranasal sinus	UBERON:0005030	71.76	gold quality
Brodmann (1909) area 9	UBERON:0013540	71.73	gold quality
right frontal lobe	UBERON:0002810	71.16	gold quality
cerebral cortex	UBERON:0000956	71.01	gold quality
corpus callosum	UBERON:0002336	70.69	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7249	yes	19.75
E-ANND-3	yes	6.33
E-MTAB-7606	no	16.40
E-GEOD-81547	no	4.58
E-MTAB-5061	no	2.05

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

134 targeting GVQW3, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502

Cross-species orthologs

0 orthologs

Paralogs (1): SETMAR (ENSG00000170364)

Protein

Protein identifiers

Protein GVQW3 — Q3ZCU0 (reviewed: Q3ZCU0)

Alternative names: GVQW motif-containing protein 3

All UniProt accessions (5): A0A0U1RQW1, A0A590UK82, A0A590UKB8, A0A669KB94, Q3ZCU0

Isoforms (2)

UniProt ID	Names	Canonical?
Q3ZCU0-1	1	yes
Q3ZCU0-2	2

RefSeq proteins (4): NP_001269385, NP_001292154, NP_001334813, NP_001334814* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR041426	Mos1_HTH	Domain
IPR052709	Transposase-MT_Hybrid	Family

Pfam: PF17906

UniProt features (3 total): splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3ZCU0-F1	61.24	0.19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 40 (showing top): chr11q13, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ZWANG_DOWN_BY_2ND_EGF_PULSE, SRC_UP.V1_UP, ARID5B_TARGET_GENES, E2F5_TARGET_GENES, HOXB6_TARGET_GENES, ID1_TARGET_GENES, NAB2_TARGET_GENES, SFMBT1_TARGET_GENES, ZNF513_TARGET_GENES, ZNF618_TARGET_GENES, ZNF7_TARGET_GENES, ZNF711_TARGET_GENES, ZNF768_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

779 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GVQW3	ELOC	Q15369	213
GVQW3	DICER1	Q9UPY3	204
GVQW3	SPO11	Q9Y5K1	166
GVQW3	UBXN7	O94888	164
GVQW3	DDB1	Q16531	162
GVQW3	BCHE	P06276	159
GVQW3	ACHE	P22303	159
GVQW3	PHYH	O14832	158
GVQW3	PHYHD1	Q5SRE7	158
GVQW3	METAP1	P53582	157
GVQW3	GLA	P06280	156
GVQW3	EDF1	O60869	156
GVQW3	NAGA	P17050	156
GVQW3	LIPT2	A6NK58	155
GVQW3	KCNE3	Q9Y6H6	155

IntAct

0 interactions, top by confidence:

BioGRID (3): LOC100506127 (Affinity Capture-MS), LOC100506127 (Affinity Capture-MS), LOC100506127 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: C0H3V9, L0TGF0, O05023, O28512, O29191, O59008, P03850, P0CF86, P0CF87, P11257, P16530, P19680, P21084, P23081, P25908, P26947, P37133, P39351, P43942, P44151, P44218, P49261, P50581, P55457, P55461, P71339, P75679, P92516, P9WF98, P9WF99, Q04616, Q04977, Q06517, Q06715, Q2EER5, Q2XXR3, Q3ZCU0, Q44233, Q44930, Q47718

Diamond homologs: O00592, Q04864, Q3ZCU0, Q6UX73, Q6ZUF6, Q7JQ07, Q8N769, Q9H2J1, A0A096LPI5, A7MCS3, Q3UST5, Q6B4Z3, Q86U02, Q8IUI4, Q8N7M2, Q8NDZ0, Q53H47, O14628, O94966, Q5VW38, Q96ET8, Q9NV72, Q9Y2Z0, Q5SR53

SIGNOR signaling

0 interactions.

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	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

724 predictions. Top by Δscore:

Variant	Effect	Δscore
11:76382086:G:GT	donor_gain	0.9700
11:76382173:G:GT	donor_gain	0.9700
11:76382833:G:T	donor_gain	0.9600
11:76403878:G:GT	donor_gain	0.9600
11:76382066:G:GT	donor_gain	0.9100
11:76382101:G:T	donor_gain	0.9100
11:76382258:GAAAC:G	donor_gain	0.9100
11:76382209:GG:G	donor_gain	0.8900
11:76382210:GG:G	donor_gain	0.8900
11:76382061:TC:T	donor_gain	0.8800
11:76382833:G:GT	donor_gain	0.8800
11:76382259:A:T	donor_gain	0.8700
11:76382434:AGCTG:A	donor_gain	0.8700
11:76382062:C:A	donor_gain	0.8600
11:76382433:T:TA	donor_gain	0.8600
11:76382074:T:A	donor_gain	0.8400
11:76381976:TTTA:T	donor_gain	0.8300
11:76382436:C:G	donor_gain	0.8300
11:76381855:GA:G	donor_gain	0.8200
11:76382117:T:G	donor_gain	0.8200
11:76382087:C:T	donor_gain	0.8100
11:76382897:GGCC:G	donor_gain	0.8100
11:76382920:T:TA	donor_gain	0.8100
11:76382921:A:AA	donor_gain	0.8100
11:76395120:A:AG	donor_gain	0.8100
11:76395121:T:G	donor_gain	0.8100
11:76382101:G:GT	donor_gain	0.8000
11:76385725:T:TA	donor_gain	0.8000
11:76400209:TTC:T	donor_gain	0.8000
11:76382100:GGA:G	donor_gain	0.7900

AlphaMissense

1224 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:76381958:T:C	F44L	0.999
11:76381960:T:A	F44L	0.999
11:76381960:T:G	F44L	0.999
11:76381976:T:C	F50L	0.999
11:76381978:T:A	F50L	0.999
11:76381978:T:G	F50L	0.999
11:76381855:G:C	R9S	0.998
11:76381855:G:T	R9S	0.998
11:76381868:T:C	F14L	0.998
11:76381870:T:A	F14L	0.998
11:76381870:T:G	F14L	0.998
11:76381914:T:C	L29S	0.998
11:76381964:T:A	W46R	0.998
11:76381964:T:C	W46R	0.998
11:76381977:T:C	F50S	0.998
11:76382108:G:C	A94P	0.998
11:76382139:T:A	V104D	0.998
11:76381854:G:C	R9T	0.997
11:76381854:G:T	R9M	0.997
11:76381911:T:C	L28P	0.997
11:76381966:G:C	W46C	0.997
11:76381966:G:T	W46C	0.997
11:76381852:A:C	Q8H	0.996
11:76381852:A:T	Q8H	0.996
11:76381859:A:C	S11R	0.996
11:76381861:T:A	S11R	0.996
11:76381861:T:G	S11R	0.996
11:76381956:T:A	V43D	0.996
11:76381965:G:C	W46S	0.996
11:76381967:C:G	H47D	0.996

dbSNP variants (sampled 300 via entrez): RS1000136620 (11:76380004 T>C), RS1000175259 (11:76384483 C>A,T), RS1000203085 (11:76384189 T>C), RS1000218844 (11:76411190 G>A), RS1000229417 (11:76399929 T>G), RS1000341859 (11:76400187 A>C), RS1000402271 (11:76379750 G>A), RS1000594405 (11:76408747 C>T), RS1000755606 (11:76402295 G>A), RS1000807428 (11:76395679 A>C), RS1000818162 (11:76392752 G>A,C), RS1000825283 (11:76412796 G>A,C), RS1001009047 (11:76381104 G>C), RS1001177565 (11:76382926 C>T), RS1001180387 (11:76407519 G>A)

Disease associations

OMIM: gene `` | 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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
abrine	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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