VWA7

Summary

VWA7 (von Willebrand factor A domain containing 7, HGNC:13939) is a protein-coding gene on chromosome 6p21.33, encoding von Willebrand factor A domain-containing protein 7 (Q9Y334).

Predicted to be located in extracellular region.

Source: NCBI Gene 80737 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 130 total
• MANE Select transcript: NM_025258

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13939
Approved symbol	VWA7
Name	von Willebrand factor A domain containing 7
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	G7c, NG37
Ensembl gene	ENSG00000204396
Ensembl biotype	protein_coding
OMIM	609693
Entrez	80737

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding_CDS_not_defined, 1 protein_coding, 1 retained_intron

ENST00000375688, ENST00000467576, ENST00000486423, ENST00000487013, ENST00000497645

RefSeq mRNA: 1 — MANE Select: NM_025258 NM_025258

CCDS: CCDS4721

Canonical transcript exons

ENST00000375688 — 17 exons

Exon	Start	End
ENSE00001745874	31766245	31766384
ENSE00001747740	31775964	31776242
ENSE00001760165	31773242	31773437
ENSE00001789165	31765883	31766057
ENSE00001834033	31765590	31765770
ENSE00001894642	31777109	31777328
ENSE00003464020	31767158	31767250
ENSE00003471031	31767362	31767514
ENSE00003480689	31766463	31766764
ENSE00003498889	31772954	31773123
ENSE00003515719	31775333	31775429
ENSE00003555889	31770001	31770113
ENSE00003572094	31776546	31776794
ENSE00003590256	31767622	31767754
ENSE00003606066	31769675	31769791
ENSE00003644668	31769018	31769203
ENSE00003689876	31774516	31774626

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 94.16.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8905 / max 92.7854, expressed in 558 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72819	0.9530	400
72818	0.4634	143
72817	0.3367	177
72816	0.1374	55

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.16	gold quality
pituitary gland	UBERON:0000007	91.45	gold quality
adenohypophysis	UBERON:0002196	88.86	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.43	gold quality
fallopian tube	UBERON:0003889	85.36	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.26	gold quality
islet of Langerhans	UBERON:0000006	84.54	gold quality
apex of heart	UBERON:0002098	83.59	gold quality
superior frontal gyrus	UBERON:0002661	82.49	gold quality
right frontal lobe	UBERON:0002810	81.98	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.83	gold quality
adult mammalian kidney	UBERON:0000082	81.27	gold quality
metanephros cortex	UBERON:0010533	81.09	gold quality
gastrocnemius	UBERON:0001388	80.38	gold quality
cerebellar hemisphere	UBERON:0002245	80.35	gold quality
cerebellar cortex	UBERON:0002129	80.33	gold quality
cerebellum	UBERON:0002037	80.28	gold quality
muscle of leg	UBERON:0001383	79.88	gold quality
skeletal muscle tissue	UBERON:0001134	79.53	gold quality
heart left ventricle	UBERON:0002084	79.46	gold quality
primary visual cortex	UBERON:0002436	79.37	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.98	gold quality
body of uterus	UBERON:0009853	78.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	78.53	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	78.21	gold quality
kidney	UBERON:0002113	78.02	gold quality
cortex of kidney	UBERON:0001225	77.03	gold quality
muscle tissue	UBERON:0002385	76.88	gold quality
hypothalamus	UBERON:0001898	76.74	gold quality
pancreas	UBERON:0001264	76.60	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-7303	no	14.71
E-ANND-3	no	1.84

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	vwa7	ENSDARG00000061462
mus_musculus	Vwa7	ENSMUSG00000007030
rattus_norvegicus	Vwa7	ENSRNOG00000000860

Protein

Protein identifiers

von Willebrand factor A domain-containing protein 7 — Q9Y334 (reviewed: Q9Y334)

Alternative names: Protein G7c

All UniProt accessions (2): Q9Y334, A0A1U9X8T7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Tissue specificity. Expressed at low level in different cell lines.

Miscellaneous. Found in the major hispocompatibility complex class III region. May be implicated in susceptibility to lung tumors.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y334-1	1	yes
Q9Y334-2	2

RefSeq proteins (1): NP_079534* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR052577	VWA7	Family
IPR056475	GBD_Hemicentin/VWA7	Domain
IPR056861	HMCN1-like_VWA	Domain
IPR056862	VWA7_N	Domain
IPR057613	VWA7_4	Domain
IPR057615	Ig_VWA7	Domain

Pfam: PF23560, PF23610, PF23619, PF25106, PF25107

UniProt features (14 total): sequence variant 6, splice variant 2, signal peptide 1, chain 1, sequence conflict 1, domain 1, region of interest 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y334-F1	84.03	0.60

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 55

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 91 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, TGANTCA_AP1_C, TGGNNNNNNKCCAR_UNKNOWN, HNF1_01, TAATTA_CHX10_01, ER_Q6_01, AP1_Q6_01, WNT_UP.V1_DN, IL15_UP.V1_DN, IL21_UP.V1_DN, CEBPZ_TARGET_GENES, IGLV5_37_TARGET_GENES, KMT2D_TARGET_GENES, LCORL_TARGET_GENES

GO Biological Process (1): biological_process (GO:0008150)

GO Molecular Function (1): molecular_function (GO:0003674)

GO Cellular Component (2): extracellular region (GO:0005576), cellular_component (GO:0005575)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

712 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VWA7	VARS1	P26640	969
VWA7	VOPP1	Q96AW1	613
VWA7	LY6G6C	O95867	570
VWA7	SAPCD1	Q5SSQ6	570
VWA7	DPY19L4	Q7Z388	528
VWA7	E7ENX8	E7ENX8	515
VWA7	TMEM9B	Q9NQ34	497
VWA7	CCNQ	Q8N1B3	492
VWA7	NOC4L	Q9BVI4	483
VWA7	LY6G5C	Q5SRR4	480
VWA7	GK5	Q6ZS86	474
VWA7	LMLN	Q96KR4	473
VWA7	MSH5	O43196	472
VWA7	LY6G6F	Q5SQ64	465
VWA7	SLC45A1	Q9Y2W3	464

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CUL2	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): VWA7 (Biochemical Activity), VWA7 (Affinity Capture-MS), VWA7 (Affinity Capture-MS), VWA7 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTW7, A0A1D5NSK0, A0A1L8HYT7, A0A286YEC0, G7PWZ3, O77755, O88959, P0C0K7, P17490, P23276, P43021, P51882, P59509, P59996, P70505, Q02853, Q04912, Q04962, Q04997, Q0V8J4, Q0VAY3, Q17R55, Q3U435, Q499S5, Q4R7Z5, Q58Y75, Q62190, Q6MG64, Q76MJ5, Q7TN88, Q7Z442, Q80W65, Q8BMN4, Q8CJH3, Q8IVN8, Q8VCS0, Q91X21, Q96KR4, Q96PQ0, Q96S42

Diamond homologs: D3YXG0, Q0V8J4, Q6MG64, Q8NDA2, Q96RW7, Q9JHA8, Q9Y334, A1KZ92, A2AJ76, A2VEC9, A4IGL7, A8WQH2, B0V2N1, B3EWY9, B3EWZ3, B3EWZ8, C0HL12, C5IAW9, D3ZTD8, F1LW30, F1NWE3, G5EBF1, G5ECS8, O08721, O08722, O08747, O14514, O15146, O55005, O60241, O60242, O89026, O95185, O95428, P07996, P11680, P16621, P27918, P35440, P35441

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	111
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2851 predictions. Top by Δscore:

Variant	Effect	Δscore
6:31765878:CTCAC:C	donor_loss	1.0000
6:31765881:A:AC	donor_gain	1.0000
6:31765881:A:AG	donor_loss	1.0000
6:31765882:C:CC	donor_gain	1.0000
6:31765882:CCTG:C	donor_gain	1.0000
6:31766053:GAGCC:G	acceptor_gain	1.0000
6:31766054:AGCC:A	acceptor_gain	1.0000
6:31766054:AGCCC:A	acceptor_loss	1.0000
6:31766055:GCC:G	acceptor_gain	1.0000
6:31766055:GCCC:G	acceptor_loss	1.0000
6:31766056:CC:C	acceptor_gain	1.0000
6:31766056:CCC:C	acceptor_gain	1.0000
6:31766056:CCCTG:C	acceptor_loss	1.0000
6:31766057:CC:C	acceptor_gain	1.0000
6:31766057:CCT:C	acceptor_loss	1.0000
6:31766058:C:CC	acceptor_gain	1.0000
6:31766058:C:T	acceptor_gain	1.0000
6:31766058:CTGGA:C	acceptor_loss	1.0000
6:31766059:T:A	acceptor_loss	1.0000
6:31766380:CTAAG:C	acceptor_gain	1.0000
6:31767246:CTGGG:C	acceptor_gain	1.0000
6:31767247:TGGG:T	acceptor_gain	1.0000
6:31767249:GGC:G	acceptor_loss	1.0000
6:31767250:GC:G	acceptor_loss	1.0000
6:31767251:C:CA	acceptor_loss	1.0000
6:31767251:C:CC	acceptor_gain	1.0000
6:31767252:T:A	acceptor_loss	1.0000
6:31767357:CTTA:C	donor_loss	1.0000
6:31767358:TTAC:T	donor_loss	1.0000
6:31767360:A:AT	donor_loss	1.0000

AlphaMissense

5712 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:31773370:C:A	K263N	0.993
6:31773370:C:G	K263N	0.993
6:31775412:G:C	S177R	0.992
6:31775412:G:T	S177R	0.992
6:31775414:T:G	S177R	0.992
6:31772964:A:C	F359L	0.989
6:31772964:A:T	F359L	0.989
6:31772966:A:G	F359L	0.989
6:31773090:G:C	S317R	0.989
6:31773090:G:T	S317R	0.989
6:31773092:T:G	S317R	0.989
6:31769751:A:T	V414D	0.986
6:31773431:C:G	C243S	0.985
6:31773432:A:T	C243S	0.985
6:31769195:G:C	F442L	0.984
6:31769195:G:T	F442L	0.984
6:31769197:A:G	F442L	0.984
6:31775424:G:C	F173L	0.983
6:31775424:G:T	F173L	0.983
6:31775426:A:G	F173L	0.983
6:31769728:C:G	D422H	0.982
6:31769747:G:C	F415L	0.980
6:31769747:G:T	F415L	0.980
6:31769749:A:G	F415L	0.980
6:31775418:A:C	S175R	0.980
6:31775418:A:T	S175R	0.980
6:31775420:T:G	S175R	0.980
6:31775406:C:A	W179C	0.979
6:31775406:C:G	W179C	0.979
6:31776132:G:C	D115E	0.978

dbSNP variants (sampled 300 via entrez): RS1000014439 (6:31776089 C>T), RS1000115349 (6:31774472 A>C,G), RS1000703950 (6:31772891 G>A,C), RS1001172379 (6:31773188 C>G,T), RS1001199977 (6:31768952 T>C), RS1001452570 (6:31775863 G>A,C,T), RS1001623429 (6:31773505 C>T), RS1002390962 (6:31766182 G>C), RS1002603558 (6:31767304 G>A,C), RS1002853539 (6:31770246 T>C,G), RS1002889255 (6:31771650 C>T), RS1003125693 (6:31776995 G>C), RS1003154138 (6:31777278 C>A), RS1003278650 (6:31770807 C>G,T), RS1004499086 (6:31768299 C>A)

Disease associations

OMIM: gene MIM:609693 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_154	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004521_17	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_213	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_224	Autism spectrum disorder or schizophrenia	5.000000e-10
GCST004521_227	Autism spectrum disorder or schizophrenia	4.000000e-12
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_281	Autism spectrum disorder or schizophrenia	5.000000e-09
GCST004521_296	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_45	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004521_81	Autism spectrum disorder or schizophrenia	1.000000e-14
GCST004616_18	Platelet distribution width	9.000000e-11
GCST008916_111	Asthma	2.000000e-14
GCST008916_30	Asthma	1.000000e-09
GCST008917_2	Asthma (childhood onset)	4.000000e-07
GCST008921_1	Asthma and major depressive disorder	2.000000e-16
GCST009864_3	Fasting plasma glucose	3.000000e-09
GCST010083_214	Hemoglobin levels	2.000000e-35
GCST011766_20	Chronic obstructive pulmonary disease	2.000000e-14

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007984	platelet component distribution width
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	increases abundance, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
sulforaphane	decreases expression	1
butyraldehyde	increases expression	1
ferrous chloride	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	increases expression, affects cotreatment	1
Plant Extracts	affects cotreatment, decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_F1PN	HyCyte HEK293T KO-hVWA7	Transformed cell line	Female

Clinical trials (associated diseases)

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