Vwa3b MGI Mouse Gene Detail - MGI:1918103 - von Willebrand factor A domain containing 3B

Symbol

Vwa3b
Name

von Willebrand factor A domain containing 3B
Synonyms

4921511C04Rik, A230074B11Rik

Feature Type

protein coding gene
IDs

MGI:1918103
NCBI Gene: 70853
Alliance

genome feature page
Transcription Start Sites

9 TSS

Sequence Map

Chr1:37068372-37226689 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 15.46 cM, cytoband B
Mapping Data

3 experiments

SNPs within 2kb

5204 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1918103	protein coding gene	Chr1:37065677-37226694 (+)
129S1/SvImJ	ENSMUSG00200002362	protein coding gene	Chr1:34781947-34802045 (+)
129S1/SvImJ	ENSMUSGG00200054822	protein coding gene	Chr1:34663729-34770915 (+)
A/J	ENSMUSG00195039901	protein coding gene	Chr1:34409947-34430072 (+)
AKR/J	ENSMUSG00220008791	protein coding gene	Chr1:34443351-34476293 (+)
BALB/cJ	ENSMUSG00180010591	protein coding gene	Chr1:34527308-34547404 (+)
BALB/cJ	ENSMUSGG00180055277	protein coding gene	Chr1:34409081-34516272 (+)
C3H/HeJ	ENSMUSG00175001074	protein coding gene	Chr1:34414044-34434164 (+)
C57BL/6NJ	ENSMUSG00215020715	protein coding gene	Chr1:34504243-34524347 (+)
C57BL/6NJ	ENSMUSGG00215055428	protein coding gene	Chr1:34386019-34493209 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014047	protein coding gene	Chr1:31672383-31838747 (+)
CAST/EiJ	no annotation
CBA/J	ENSMUSG00210005896	protein coding gene	Chr1:34255894-34288837 (+)
DBA/2J	ENSMUSG00185009947	protein coding gene	Chr1:35340419-35373696 (+)
DBA/2J	ENSMUSGG00185057716	protein coding gene	Chr1:35222036-35329411 (+)
FVB/NJ	ENSMUSG00205028265	protein coding gene	Chr1:34459190-34492133 (+)
JF1/MsJ	no annotation
LP/J	ENSMUSGG00230055642	protein coding gene	Chr1:35284508-35391695 (+)
LP/J	ENSMUSG00230020733	protein coding gene	Chr1:35402728-35422823 (+)
NOD/ShiLtJ	ENSMUSG00190029692	protein coding gene	Chr1:34444785-34464902 (+)
NZO/HlLtJ	ENSMUSG00225014073	protein coding gene	Chr1:38643952-38664045 (+)
PWK/PhJ	no annotation
SPRET/EiJ	no annotation
WSB/EiJ	no annotation

Human Ortholog

VWA3B, von Willebrand factor A domain containing 3B

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

VWA3B, von Willebrand factor A domain containing 3B
Synonyms

SCAR22
Links

HGNC:28385

NCBI Gene ID: 200403

UniProt: Q502W6
Chr Location

2q11.2; chr2:98087116-98330616 (+) GRCh38

MGI Vertebrate Homology

Vwa3b stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: VWA3B
Gene Tree

Vwa3b

Diseases

1 with human VWA3B associations

				Human Disease	Mouse Models
				autosomal recessive spinocerebellar ataxia 22 IDs autosomal recessive spinocerebellar ataxia 22 DOID:0111614 OMIM:616948

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
12 phenotype references

All Mutations and Alleles

64
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

58
Targeted

3
Genomic Mutations

1 involving Vwa3b
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

54 strains or lines available

Male mice homozygous for a null allele exhibit normal fecundity.

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All GO Annotations

3
GO References

2

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

597
cDNA Data

19

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase vwa3b

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All Sequences

77
RefSeq

19
UniProt

11

Ensembl

ENSMUSG00000050122 (Evidence)
NCBI Gene

70853

			Length	Strain/Species	Flank
genomic	70853	NCBI Gene Model \| MGI Sequence Detail	158318	C57BL/6J	± kb
transcript	NM_001370828	RefSeq \| MGI Sequence Detail	4552	C57BL/6
polypeptide	NP_001357757	RefSeq \| MGI Sequence Detail	1226	C57BL/6

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UniProt

11 Sequences
InterPro Domains

IPR032770 Domain of unknown function DUF4537

IPR036465 von Willebrand factor A-like domain superfamily

IPR002035 von Willebrand factor, type A
GlyGen

A0A571BE33 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 19

cDNA 19

Microarray probesets 3

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MGI:2443831, MGI:2685401

Summaries

All 33

Gene Ontology 2

Phenotypes 12
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:385560 Shao X, et al., MatrisomeDB 2.0: 2023 updates to the ECM-protein knowledge database. Nucleic Acids Res. 2023 Jan 6;51(D1):D1519-D1530

TSS for Vwa3b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr6295	Chr1:37068388-37068420 (+)	32 bp
Tssr6296	Chr1:37068428-37068438 (+)	61 bp
Tssr44	Chr1:37128739-37128741 (+)	60,368 bp
Tssr6297	Chr1:37139690-37139697 (+)	71,322 bp
Tssr6298	Chr1:37139741-37139753 (+)	71,375 bp
Tssr45	Chr1:37192903-37192906 (+)	124,533 bp
Tssr6299	Chr1:37192921-37192938 (+)	124,558 bp
Tssr6300	Chr1:37192939-37192951 (+)	124,573 bp
Tssr6301	Chr1:37192955-37192977 (+)	124,594 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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