Vps13c MGI Mouse Gene Detail - MGI:2444207 - vacuolar protein sorting 13C

Vps13c Gene Detail

Symbol

Vps13c
Name

vacuolar protein sorting 13C
Synonyms

C230055H22Rik

Feature Type

protein coding gene
IDs

MGI:2444207
NCBI Gene: 320528

Sequence Map

Chr9:67840396-67995634 bp, + strand
From Ensembl annotation of GRCm38

Mouse Genome Browser
Download
Sequence

155239 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 36.77 cM
Mapping Data

2 experiments

Human Ortholog

VPS13C, vacuolar protein sorting 13 homolog C

Vertebrate Orthologs

9

Human Ortholog

VPS13C, vacuolar protein sorting 13 homolog C
Orthology source: HomoloGene, HGNC
Synonyms

PARK23
Links

HGNC:23594

NCBI Gene ID: 54832

neXtProt AC: NX_Q709C8

UniProt: Q709C8
Chr Location

15q22.2; chr15:61852389-62060465 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 41188
1 human;1 mouse;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: VPS13C
Gene Tree

Vps13c

Diseases

1 with human VPS13C associations

				Human Disease	Mouse Models
				autosomal recessive early-onset Parksinson disease 23 IDs autosomal recessive early-onset Parksinson disease 23 DOID:0060896 ICD10CM:G20 OMIM:616840

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

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
10 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

14
Chemically induced (other)

1
Gene trapped

10
Targeted

3
Genomic Mutations

1 involving Vps13c
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

96 strains or lines available

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All GO Annotations

7
GO References

2

External Resources

FuncBase

Molecular Function

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

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

33
Tissues

19
cDNA Data

10
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase vps13c

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Vps13c interacts with 140 markers (Mir7-1, Mir9-1, Mir9-2, ...) View All

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All Sequences

51
RefSeq

12
UniProt

10
CCDS

CCDS40676.1

Ensembl

ENSMUSG00000035284 (Evidence)
NCBI Gene

320528

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035284	Ensembl Gene Model \| MGI Sequence Detail	155239	C57BL/6J	± kb
transcript	ENSMUST00000077879	Ensembl \| MGI Sequence Detail	11523	Not Applicable
polypeptide	ENSMUSP00000077040	Ensembl \| MGI Sequence Detail	3748	Not Applicable

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SNPs within 2kb

856 from dbSNP Build 142

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UniProt

10 Sequences
Protein Ontology

PR:000017321 vacuolar protein sorting-associated protein 13C

(term hierarchy)
InterPro Domains

IPR015412 Autophagy-related, C-terminal

IPR026847 Vacuolar protein sorting-associated protein 13

IPR031645 Vacuolar protein sorting-associated protein 13, C-terminal

IPR026854 Vacuolar protein sorting-associated protein 13, N-terminal domain

IPR031646 Vacuolar protein sorting-associated protein 13, second N-terminal domain

IPR009543 Vacuolar protein sorting-associated protein 13, SHR-binding domain

IPR031642 VPS13, repeated coiled region

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All nucleic 12

Genomic 1

cDNA 10

Primer pair 1

Microarray probesets 4

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MGI:2143091, MGI:2143255, MGI:2143453

Summaries

All 34

Developmental Gene Expression 3

Gene Ontology 2

Phenotypes 10
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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