Vps16 MGI Mouse Gene Detail - MGI:2136772 - VSP16 CORVET/HOPS core subunit

Symbol

Vps16
Name

VSP16 CORVET/HOPS core subunit
Synonyms

1810074M16Rik, MGC:7352

Feature Type

protein coding gene
IDs

MGI:2136772
NCBI Gene: 80743
Alliance

genome feature page
Transcription Start Sites

1 TSS

Sequence Map

Chr2:130266259-130286189 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 63.22 cM, cytoband F3
Mapping Data

2 experiments

SNPs within 2kb

450 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2136772	protein coding gene	Chr2:130265744-130286189 (+)
129S1/SvImJ	ENSMUSG00200047255	protein coding gene	Chr2:127279907-127328099 (+)
A/J	ENSMUSG00195027569	protein coding gene	Chr2:127314345-127362611 (+)
AKR/J	ENSMUSG00220039502	protein coding gene	Chr2:127073449-127121644 (+)
BALB/cJ	ENSMUSG00180048563	protein coding gene	Chr2:127126136-127175762 (+)
C3H/HeJ	ENSMUSG00175046056	protein coding gene	Chr2:127660785-127708965 (+)
C57BL/6NJ	ENSMUSG00215031247	protein coding gene	Chr2:127162432-127210689 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024303	protein coding gene	Chr2:123206707-123226253 (+)
CAST/EiJ	ENSTCUG00005036372	protein coding gene	Chr2:126434551-126484194 (+)
CBA/J	ENSMUSG00210034512	protein coding gene	Chr2:127517672-127565844 (+)
DBA/2J	ENSMUSG00185031350	protein coding gene	Chr2:127167294-127215553 (+)
FVB/NJ	ENSMUSG00205036871	protein coding gene	Chr2:126332796-126380971 (+)
JF1/MsJ	ENSUMUG00000017904	protein coding gene	Chr2:126979360-127028815 (+)
LP/J	ENSMUSG00230036192	protein coding gene	Chr2:128915121-128963314 (+)
NOD/ShiLtJ	ENSMUSG00190014006	protein coding gene	Chr2:127273336-127324787 (+)
NZO/HlLtJ	ENSMUSG00225026831	protein coding gene	Chr2:136823959-136872149 (+)
PWK/PhJ	ENSLUMG00010036714	protein coding gene	Chr2:126941623-126991243 (+)
SPRET/EiJ	ENSMSPG00010026633	protein coding gene	Chr2:129343786-129371728 (+)
WSB/EiJ	ENSIUOG00005037233	protein coding gene	Chr2:127095061-127146495 (+)

Human Ortholog

VPS16, VPS16 core subunit of CORVET and HOPS complexes

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

VPS16, VPS16 core subunit of CORVET and HOPS complexes
Synonyms

DYT30, hVPS16
Links

HGNC:14584

NCBI Gene ID: 64601

UniProt: Q9H269
Chr Location

20p13; chr20:2840689-2866800 (+) GRCh38

MGI Vertebrate Homology

Vps16 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: VPS16
Protein SuperFamily

VPS16
Gene Tree

Vps16

Diseases

1 with human VPS16 associations

				Human Disease	Mouse Models
				dystonia 30 IDs dystonia 30 DOID:0060937 OMIM:619291

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

less

Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
8 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

8
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

3
Radiation induced

1
Targeted

1
Genomic Mutations

2 involving Vps16
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

35 strains or lines available

Mice with a homozygous point mutation in exon 3 display impaired motor function.

less

All GO Annotations

46
GO References

12

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.

less

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

121
Literature Summary

1

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase vps16

ZFIN vps16

less

All Sequences

65
RefSeq

13
UniProt

5
CCDS

CCDS38242.1

Ensembl

ENSMUSG00000027411 (Evidence)
NCBI Gene

80743

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027411	Ensembl Gene Model \| MGI Sequence Detail	19931	C57BL/6J	± kb
transcript	ENSMUST00000028900	Ensembl \| MGI Sequence Detail	3161	Not Applicable
polypeptide	ENSMUSP00000028900	Ensembl \| MGI Sequence Detail	839	Not Applicable

less

UniProt

5 Sequences
Protein Ontology

PR:000017323 vacuolar protein sorting-associated protein 16

(term hierarchy)
InterPro Domains

IPR016534 Vacuolar protein sorting-associated protein 16

IPR006925 Vps16, C-terminal

IPR038132 Vps16, C-terminal domain superfamily

IPR006926 Vps16, N-terminal
GlyGen

Q920Q4 1 site

less

All nucleic 121

cDNA 121

Microarray probesets 3

less

MGI:1917055

Summaries

All 43

Developmental Gene Expression 1

Gene Ontology 12

Phenotypes 8
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:243974 Cai X, et al., Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia. Sci Rep. 2016 May 12;6:25834

TSS for Vps16:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr20210	Chr2:130266241-130266313 (+)	18 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 09/08/2026 MGI 6.24