Vwa3b Gene Detail

Summary

• 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
  gene page
• Transcription Start Sites
  9 TSS

Location &
Maps

• 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

Strain
Comparison

• SNPs within 2kb
  5204 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1918103	protein coding gene	Chr1:37065677-37226694 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0015934	protein coding gene	Chr1:35608235-35789427 (+)
A/J	MGP_AJ_G0015918	protein coding gene	Chr1:34631603-34797832 (+)
AKR/J	MGP_AKRJ_G0015873	protein coding gene	Chr1:35130265-35298308 (+)
BALB/cJ	MGP_BALBcJ_G0015872	protein coding gene	Chr1:34318620-34485663 (+)
C3H/HeJ	MGP_C3HHeJ_G0015705	protein coding gene	Chr1:35330021-35501644 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016325	protein coding gene	Chr1:37194551-37379016 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014047	protein coding gene	Chr1:31672383-31838747 (+)
CAST/EiJ	MGP_CASTEiJ_G0015286	protein coding gene	Chr1:35205235-35382610 (+)
CBA/J	MGP_CBAJ_G0015677	protein coding gene	Chr1:38183542-38380442 (+)
DBA/2J	MGP_DBA2J_G0015778	protein coding gene	Chr1:33967624-34133937 (+)
FVB/NJ	MGP_FVBNJ_G0015780	protein coding gene	Chr1:33498041-33666072 (+)
LP/J	MGP_LPJ_G0015848	protein coding gene	Chr1:35961932-36140202 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015800	protein coding gene	Chr1:40378246-40559948 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016372	protein coding gene	Chr1:35183564-35353977 (+)
PWK/PhJ	MGP_PWKPhJ_G0015069	protein coding gene	Chr1:33726758-33895110 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014851	protein coding gene	Chr1:35126004-35288265 (+)
WSB/EiJ	MGP_WSBEiJ_G0015348	protein coding gene	Chr1:35133245-35307483 (+)

Homology

• Human Ortholog
  VWA3B, von Willebrand factor A domain containing 3B

• Vertebrate Orthologs
  1

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

  neXtProt AC: NX_Q502W6

  UniProt: Q502W6

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

---

• MGI Vertebrate Homology
  Vwa3b stringent orthology
  1 human;1 mouse
  
• HCOP
  vertebrate homology predictions: VWA3B
• Gene Tree
  Vwa3b
  

Human Diseases

• 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.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  1 phenotype from 1 allele in 1 genetic background
  11 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)
  56 strains or lines available

Male mice homozygous for a null allele exhibit normal fecundity.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  2
• GO References
  1

Expression

• Assay Results
  706
• cDNA Data
  19

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase vwa3b

Sequences &
Gene Models

• All Sequences
  75
• RefSeq
  19
• UniProt
  10

• Ensembl
  ENSMUSG00000050122 (Evidence)
• NCBI Gene
  70853

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

Protein
Information

• UniProt
  10 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)

Molecular
Reagents

• All nucleic 19

  cDNA 19

  
  

  Microarray probesets 3

Other
Accession IDs

MGI:2443831, MGI:2685401

References

• Summaries
  All 30

  Gene Ontology 1

  Phenotypes 11
• 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:279039 Lu Y, et al., CRISPR/Cas9-mediated genome editing reveals 30 testis-enriched genes dispensable for male fertility in mice. Biol Reprod. 2019 Aug 1;101(2):501-511

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