VWA5B1

Summary

VWA5B1 (von Willebrand factor A domain containing 5B1, HGNC:26538) is a protein-coding gene on chromosome 1p36.12, encoding von Willebrand factor A domain-containing protein 5B1 (Q5TIE3).

Predicted to be located in extracellular region.

Source: NCBI Gene 127731 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 269 total
• MANE Select transcript: NM_001039500

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26538
Approved symbol	VWA5B1
Name	von Willebrand factor A domain containing 5B1
Location	1p36.12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32784
Ensembl gene	ENSG00000158816
Ensembl biotype	protein_coding
Entrez	127731

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000289815, ENST00000375079, ENST00000467486, ENST00000473325, ENST00000485375, ENST00000525343, ENST00000530722, ENST00000534075, ENST00000893215, ENST00000919186

RefSeq mRNA: 2 — MANE Select: NM_001039500 NM_001039500, NM_001377531

Canonical transcript exons

ENST00000289815 — 22 exons

Exon	Start	End
ENSE00001465717	20353757	20359518
ENSE00003459903	20343079	20343393
ENSE00003468152	20342432	20342609
ENSE00003469044	20312836	20312988
ENSE00003481661	20330869	20330983
ENSE00003490240	20314322	20314592
ENSE00003526661	20323356	20323532
ENSE00003535492	20317530	20317675
ENSE00003538106	20336303	20336486
ENSE00003540697	20318590	20318721
ENSE00003544618	20350156	20350230
ENSE00003555040	20350857	20350926
ENSE00003556325	20345456	20345593
ENSE00003578463	20310576	20310740
ENSE00003599261	20332766	20332951
ENSE00003619438	20337646	20337836
ENSE00003623242	20348245	20348358
ENSE00003628100	20327890	20328000
ENSE00003653609	20319382	20319506
ENSE00003670631	20330180	20330382
ENSE00003693096	20352055	20352172
ENSE00003921465	20290875	20291088

Expression profiles

Bgee: expression breadth broad, 90 present calls, max score 72.39.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0550 / max 12.9796, expressed in 25 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1118	0.0550	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pituitary gland	UBERON:0000007	72.39	gold quality
adenohypophysis	UBERON:0002196	72.05	gold quality
left testis	UBERON:0004533	71.36	gold quality
right testis	UBERON:0004534	70.33	gold quality
testis	UBERON:0000473	68.96	gold quality
right uterine tube	UBERON:0001302	68.36	gold quality
ventricular zone	UBERON:0003053	64.32	gold quality
hypothalamus	UBERON:0001898	63.55	gold quality
metanephros cortex	UBERON:0010533	61.47	gold quality
adult mammalian kidney	UBERON:0000082	60.40	gold quality
ganglionic eminence	UBERON:0004023	59.50	gold quality
metanephros	UBERON:0000081	55.21	gold quality
kidney	UBERON:0002113	54.51	gold quality
gall bladder	UBERON:0002110	53.51	gold quality
germinal epithelium of ovary	UBERON:0001304	53.10	gold quality
cortex of kidney	UBERON:0001225	52.90	gold quality
urinary bladder	UBERON:0001255	50.25	gold quality
gingival epithelium	UBERON:0001949	50.10	gold quality
buccal mucosa cell	CL:0002336	49.58	gold quality
islet of Langerhans	UBERON:0000006	49.46	gold quality
middle temporal gyrus	UBERON:0002771	49.43	gold quality
tonsil	UBERON:0002372	48.41	silver quality
amygdala	UBERON:0001876	47.89	gold quality
caudate nucleus	UBERON:0001873	47.80	gold quality
gingiva	UBERON:0001828	46.96	gold quality
fallopian tube	UBERON:0003889	46.40	gold quality
Brodmann (1909) area 23	UBERON:0013554	46.22	gold quality
upper leg skin	UBERON:0004262	46.12	silver quality
forebrain	UBERON:0001890	45.81	gold quality
Ammon’s horn	UBERON:0001954	45.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	39.42
E-ANND-3	yes	5.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting VWA5B1, 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-4481	100.00	66.42	1669
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-628-3P	99.04	68.37	814
HSA-MIR-7153-3P	99.00	65.35	608
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-455-5P	98.74	67.31	795
HSA-MIR-5011-3P	98.63	64.81	638
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-6842-3P	98.07	66.33	1325
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-212-5P	96.83	67.43	950
HSA-MIR-550B-2-5P	96.56	64.61	646
HSA-MIR-4654	95.86	65.72	751
HSA-MIR-4259	95.68	65.25	582
HSA-MIR-4769-5P	95.37	66.09	570

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	vwa5b1	ENSDARG00000059705
mus_musculus	Vwa5b1	ENSMUSG00000028753
rattus_norvegicus	Vwa5b1	ENSRNOG00000016553

Paralogs (11): ITIH4 (ENSG00000055955), ITIH1 (ENSG00000055957), ITIH6 (ENSG00000102313), PARP4 (ENSG00000102699), VWA5A (ENSG00000110002), ITIH5 (ENSG00000123243), VWA5B2 (ENSG00000145198), ITIH2 (ENSG00000151655), ITIH3 (ENSG00000162267), VWA3B (ENSG00000168658), VWA3A (ENSG00000175267)

Protein

Protein identifiers

von Willebrand factor A domain-containing protein 5B1 — Q5TIE3 (reviewed: Q5TIE3)

All UniProt accessions (6): E9PMB3, E9PNX8, E9PP07, E9PQ62, Q5TIE3, H0YED8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Isoforms (5)

UniProt ID	Names	Canonical?
Q5TIE3-1	1	yes
Q5TIE3-2	2
Q5TIE3-3	3
Q5TIE3-4	4
Q5TIE3-5	5

RefSeq proteins (2): NP_001034589, NP_001364460 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR013694	VIT	Domain
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR052627	VWA_domain-containing	Family

Pfam: PF13757, PF13768

UniProt features (30 total): splice variant 8, sequence variant 4, region of interest 4, compositionally biased region 3, glycosylation site 3, sequence conflict 3, domain 2, signal peptide 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5TIE3-F1	66.50	0.38

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 (1): 881

Glycosylation sites (3): 140, 650, 1017

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): HAND1E47_01, TAL1BETAE47_01, chr1p36, NABA_ECM_GLYCOPROTEINS, MIR3922_3P, MIR3176, DESCARTES_FETAL_ADRENAL_SYMPATHOBLASTS, DESCARTES_FETAL_KIDNEY_URETERIC_BUD_CELLS, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, HARALAMBIEVA_PBMC_M_M_R_II_AGE_11_22YO_VACCINATED_VS_UNVACCINATED_7YR_UP, GSE26928_NAIVE_VS_CENT_MEMORY_CD4_TCELL_DN, OLF1_01, GSE37416_CTRL_VS_0H_F_TULARENSIS_LVS_NEUTROPHIL_DN, NABA_CORE_MATRISOME, NABA_MATRISOME

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

564 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VWA5B1	KIAA2012	Q0VF49	666
VWA5B1	VSTM5	A8MXK1	542
VWA5B1	XKR5	Q6UX68	507
VWA5B1	TATDN2	Q93075	483
VWA5B1	ARL5C	A6NH57	482
VWA5B1	DUSP21	Q9H596	433
VWA5B1	TMEM87B	Q96K49	379
VWA5B1	ZPLD1	Q8TCW7	366
VWA5B1	MFAP1	P55081	324
VWA5B1	CLBA1	Q96F83	323
VWA5B1	SKIC3	Q6PGP7	311
VWA5B1	COL26A1	Q96A83	303
VWA5B1	LRWD1	Q9UFC0	302
VWA5B1	TICRR	Q7Z2Z1	299
VWA5B1	HIVEP3	Q5T1R4	295

IntAct

2 interactions, top by confidence:

A	B	Type	Score
VWA5B1	H2BC21	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): VWA5B1 (Proximity Label-MS)

ESM2 similar proteins: A0A140LI67, A2AKB4, A6QLD5, A9Z1V5, C0HAC0, D4A7V9, O43187, O70173, O88866, P97573, Q08DV9, Q0P5I2, Q1L981, Q2YDQ5, Q3TYG6, Q3U3D7, Q4QQS0, Q5F479, Q5JV73, Q5R810, Q5SUS0, Q5SY16, Q5TIE3, Q5XX13, Q68DX3, Q6DIL6, Q6GQ34, Q6IRN0, Q6IRU7, Q6P1H6, Q6P4K6, Q6P4T1, Q80TI1, Q8BLA1, Q8BLQ0, Q8BW88, Q8C008, Q8CFA1, Q8QHJ9, Q8TC57

Diamond homologs: A9Z1V5, C7G046, O00534, Q3UR50, Q54CQ8, Q54DU5, Q54DV3, Q54MG1, Q54MG4, Q55G98, Q5TIE3, Q75WE7, Q8N398, A0A1S3C4H6, B9FXV5, G5CEW6, O43432, P41110, Q03387, Q04637, Q41583, Q6K641, Q6NZJ6, Q76E23, Q80XI3, Q84PB3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	247
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4397 predictions. Top by Δscore:

Variant	Effect	Δscore
1:20310739:GG:G	donor_gain	1.0000
1:20310740:GG:G	donor_gain	1.0000
1:20310740:GGT:G	donor_loss	1.0000
1:20310741:GTAAG:G	donor_loss	1.0000
1:20310742:T:A	donor_loss	1.0000
1:20312987:AGG:A	donor_loss	1.0000
1:20312988:GGTAA:G	donor_loss	1.0000
1:20312989:GT:G	donor_loss	1.0000
1:20312990:T:G	donor_loss	1.0000
1:20314370:C:A	acceptor_gain	1.0000
1:20318580:T:G	acceptor_gain	1.0000
1:20318719:GCG:G	donor_gain	1.0000
1:20318722:G:GG	donor_gain	1.0000
1:20330341:G:T	donor_gain	1.0000
1:20330342:A:T	donor_gain	1.0000
1:20332947:GATCT:G	donor_gain	1.0000
1:20332952:G:GG	donor_gain	1.0000
1:20336300:CAG:C	acceptor_loss	1.0000
1:20336301:A:AC	acceptor_loss	1.0000
1:20336301:AG:A	acceptor_gain	1.0000
1:20336302:GG:G	acceptor_gain	1.0000
1:20336302:GGACA:G	acceptor_gain	1.0000
1:20336482:GCACG:G	donor_gain	1.0000
1:20343078:GAGCC:G	acceptor_gain	1.0000
1:20343389:GCAGG:G	donor_gain	1.0000
1:20343392:GG:G	donor_gain	1.0000
1:20343393:GG:G	donor_gain	1.0000
1:20345452:A:AG	acceptor_gain	1.0000
1:20345452:ACAG:A	acceptor_gain	1.0000
1:20345452:ACAGG:A	acceptor_gain	1.0000

AlphaMissense

7951 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:20318598:A:C	S240R	0.998
1:20318600:T:A	S240R	0.998
1:20318600:T:G	S240R	0.998
1:20332823:T:A	W544R	0.996
1:20332823:T:C	W544R	0.996
1:20312886:G:C	A64P	0.994
1:20345494:A:C	S889R	0.994
1:20345496:C:A	S889R	0.994
1:20345496:C:G	S889R	0.994
1:20354033:T:A	W1145R	0.993
1:20354033:T:C	W1145R	0.993
1:20345515:A:C	S896R	0.992
1:20345517:C:A	S896R	0.992
1:20345517:C:G	S896R	0.992
1:20354093:T:A	W1165R	0.992
1:20354093:T:C	W1165R	0.992
1:20310705:T:C	L35P	0.991
1:20317646:T:C	L227P	0.990
1:20312881:T:C	F62S	0.989
1:20354114:G:C	A1172P	0.989
1:20318617:G:C	R246P	0.988
1:20312880:T:C	F62L	0.986
1:20312882:T:A	F62L	0.986
1:20312882:T:G	F62L	0.986
1:20354035:G:C	W1145C	0.986
1:20354035:G:T	W1145C	0.986
1:20310612:T:C	L4S	0.985
1:20343208:T:A	V814D	0.985
1:20354095:G:C	W1165C	0.985
1:20354095:G:T	W1165C	0.985

dbSNP variants (sampled 300 via entrez): RS1000027948 (1:20344085 C>G,T), RS1000084957 (1:20313953 A>G), RS1000119951 (1:20337896 T>C), RS1000173985 (1:20350259 A>C,G), RS1000203878 (1:20311823 C>A,T), RS1000231277 (1:20307189 C>T), RS1000257968 (1:20350102 G>A), RS1000262344 (1:20306972 T>C), RS1000375733 (1:20355546 C>A,G), RS1000385097 (1:20316517 A>G), RS1000514884 (1:20326778 A>G), RS1000525692 (1:20301918 G>A), RS1000560273 (1:20331159 T>G), RS1000560530 (1:20305851 G>A,T), RS1000588732 (1:20349673 T>TGCC)

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

4 associations (top):

Study	Trait	p-value
GCST004685_1	Psychosis proneness (perceptual aberration scale)	4.000000e-06
GCST007478_1	Non-word reading	6.000000e-06
GCST010002_378	Refractive error	1.000000e-09
GCST010118_1	Type 2 diabetes	4.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008337	psychosis predisposition measurement
EFO:0005299	non-word reading

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
fluorene-9-bisphenol	decreases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
benzo(e)pyrene	increases methylation	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Aldehydes	increases expression	1
Benzo(a)pyrene	affects methylation	1
Catechin	affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1
Vanadium	increases abundance, increases methylation	1
Metals, Heavy	increases abundance, increases methylation	1

Clinical trials (associated diseases)

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