Vapb MGI Mouse Gene Detail - MGI:1928744 - vesicle-associated membrane protein, associated protein B and C

Symbol

Vapb
Name

vesicle-associated membrane protein, associated protein B and C
Synonyms

D2Abb2e, VAMP-associated protein 33b, VAP33b

Feature Type

protein coding gene
IDs

MGI:1928744
NCBI Gene: 56491
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr2:173579378-173626132 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 97.37 cM, cytoband H3
Mapping Data

5 experiments

SNPs within 2kb

1000 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1928744	protein coding gene	Chr2:173579304-173626132 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026961	protein coding gene	Chr2:180045543-180100227 (+)
A/J	MGP_AJ_G0026928	protein coding gene	Chr2:172463929-172511997 (+)
AKR/J	MGP_AKRJ_G0026899	protein coding gene	Chr2:177667042-177713191 (+)
BALB/cJ	MGP_BALBcJ_G0026937	protein coding gene	Chr2:172864022-172909380 (+)
C3H/HeJ	MGP_C3HHeJ_G0026679	protein coding gene	Chr2:178047325-178094733 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027384	protein coding gene	Chr2:185221200-185267167 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024753	protein coding gene	Chr2:165691077-165734624 (+)
CAST/EiJ	MGP_CASTEiJ_G0026138	protein coding gene	Chr2:178770326-178815842 (+)
CBA/J	MGP_CBAJ_G0026656	protein coding gene	Chr2:192138028-192185576 (+)
DBA/2J	MGP_DBA2J_G0026794	protein coding gene	Chr2:171553386-171600208 (+)
FVB/NJ	MGP_FVBNJ_G0026760	protein coding gene	Chr2:170187865-170232640 (+)
LP/J	MGP_LPJ_G0026895	protein coding gene	Chr2:179961891-180017210 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026779	protein coding gene	Chr2:195054332-195102159 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027441	protein coding gene	Chr2:177687667-177737952 (+)
PWK/PhJ	MGP_PWKPhJ_G0025874	protein coding gene	Chr2:171368245-171419152 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025674	protein coding gene	Chr2:176716539-176763108 (+)
WSB/EiJ	MGP_WSBEiJ_G0026210	protein coding gene	Chr2:178640025-178693556 (+)

Human Ortholog

VAPB, VAMP associated protein B and C

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

VAPB, VAMP associated protein B and C
Synonyms

ALS8, VAMP-B, VAP-B
Links

HGNC:12649

NCBI Gene ID: 9217

neXtProt AC: NX_O95292

UniProt: O95292
Chr Location

20q13.32; chr20:58389229-58451101 (+) GRCh38

MGI Vertebrate Homology

Vapb stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: VAPB
Protein SuperFamily

VAMP-associated
Gene Tree

Vapb

Diseases

4 with human VAPB associations

				Human Disease	Mouse Models
				amyotrophic lateral sclerosis IDs amyotrophic lateral sclerosis DOID:332 ICD10CM:G12.21 ICD9CM:335.20 KEGG:05014 MESH:D000690 NCI:C34373 OMIM:PS105400 ORDO:803 UMLS_CUI:C0002736
				amyotrophic lateral sclerosis type 8 IDs amyotrophic lateral sclerosis type 8 DOID:0050752 OMIM:608627
				autosomal dominant adult-onset proximal spinal muscular atrophy IDs autosomal dominant adult-onset proximal spinal muscular atrophy DOID:0111194 OMIM:182980 ORDO:209335
				spinal muscular atrophy IDs spinal muscular atrophy DOID:12377 ICD10CM:G12.9 ICD9CM:335.1 ICD9CM:335.10 MESH:D009134 NCI:C85075 UMLS_CUI:C0026847

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

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Phenotype Summary

14 phenotypes from 4 alleles in 4 genetic backgrounds
20 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

38
Endonuclease-mediated

3
Gene trapped

30
Targeted

5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant mice exhibited enhanced motor coordination during inverted screen testing. Mice homozygous for another knock-out allele exhibit hypotonia, impaired coordination in older mice and mild tremors.

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All GO Annotations

34
GO References

5

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

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

721
Tissues

3
cDNA Data

19
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase vapb

ZFIN vapb

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All Sequences

60
RefSeq

2
UniProt

5
CCDS

CCDS17146.1

Ensembl

ENSMUSG00000054455 (Evidence)
NCBI Gene

56491

			Length	Strain/Species	Flank
genomic	56491	NCBI Gene Model \| MGI Sequence Detail	46755	C57BL/6J	± kb
transcript	NM_019806	RefSeq \| MGI Sequence Detail	6958	ZRU/MplStud
polypeptide	Q9QY76	UniProt \| EBI \| MGI Sequence Detail	243	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000029849 vesicle-associated membrane protein-associated protein B/C

(term hierarchy)
PDB

7X14
InterPro Domains

IPR013783 Immunoglobulin-like fold

IPR000535 Major sperm protein (MSP) domain

IPR008962 PapD-like superfamily

IPR016763 Vesicle-associated membrane-protein-associated protein
GlyGen

Q9QY76 1 site, 1 O-linked glycan (1 site)

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All nucleic 22

Genomic 1

cDNA 19

Primer pair 2

Microarray probesets 8

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MGD-MRK-34262, MGI:106568, MGI:2138863, MGI:2139066, MGI:2139072, MGI:2139546

Summaries

All 59

Developmental Gene Expression 3

Gene Ontology 5

Phenotypes 20
Earliest

J:34960 Chambers DM, et al., Isolation and mapping of novel mouse brain cDNA clones containing trinucleotide repeats, and demonstration of novel alleles in recombinant inbred strains. Genome Res. 1996 Aug;6(8):715-23
Latest

J:348785 Zhang D, et al., Maternal Ezh1/2 deficiency impairs the function of mitochondria in mouse oocytes and early embryos. J Cell Physiol. 2024 Mar 26;

TSS for Vapb:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr22068	Chr2:173579271-173579283 (+)	-101 bp
Tssr22069	Chr2:173579285-173579296 (+)	-87 bp
Tssr22070	Chr2:173579348-173579394 (+)	-7 bp
Tssr22071	Chr2:173579395-173579425 (+)	32 bp
Tssr22072	Chr2:173579432-173579439 (+)	58 bp
Tssr787	Chr2:173610036-173610057 (+)	30,669 bp
Tssr22073	Chr2:173621006-173621019 (+)	41,635 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24