Dnajc5 MGI Mouse Gene Detail - MGI:892995 - DnaJ heat shock protein family (Hsp40) member C5

Symbol

Dnajc5
Name

DnaJ heat shock protein family (Hsp40) member C5
Synonyms

2610314I24Rik, Csp

Feature Type

protein coding gene
IDs

MGI:892995
NCBI Gene: 13002
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr2:181162141-181194679 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 103.63 cM
Mapping Data

7 experiments

SNPs within 2kb

682 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_892995	protein coding gene	Chr2:181162141-181196926 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027027	protein coding gene	Chr2:188121180-188160847 (+)
A/J	MGP_AJ_G0026993	protein coding gene	Chr2:180371579-180406261 (+)
AKR/J	MGP_AKRJ_G0026963	protein coding gene	Chr2:185781866-185817143 (+)
BALB/cJ	MGP_BALBcJ_G0027001	protein coding gene	Chr2:180851079-180885909 (+)
C3H/HeJ	MGP_C3HHeJ_G0026743	protein coding gene	Chr2:186131851-186168372 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027447	protein coding gene	Chr2:193571815-193607271 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024811	protein coding gene	Chr2:171058584-171091175 (+)
CAST/EiJ	MGP_CASTEiJ_G0026202	protein coding gene	Chr2:184397398-184438304 (+)
CBA/J	MGP_CBAJ_G0026720	protein coding gene	Chr2:200565695-200603760 (+)
DBA/2J	MGP_DBA2J_G0026857	protein coding gene	Chr2:179471383-179506735 (+)
FVB/NJ	MGP_FVBNJ_G0026823	protein coding gene	Chr2:178088789-178124446 (+)
LP/J	MGP_LPJ_G0026959	protein coding gene	Chr2:188143382-188178139 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026843	protein coding gene	Chr2:203130566-203168687 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027507	protein coding gene	Chr2:185749122-185783848 (+)
PWK/PhJ	MGP_PWKPhJ_G0025938	protein coding gene	Chr2:176997134-177034531 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025738	protein coding gene	Chr2:182249727-182285496 (+)
WSB/EiJ	MGP_WSBEiJ_G0026274	protein coding gene	Chr2:186735859-186773829 (+)

Human Ortholog

DNAJC5, DnaJ heat shock protein family (Hsp40) member C5

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DNAJC5, DnaJ heat shock protein family (Hsp40) member C5
Synonyms

CLN4, CLN4B, CSP, DNAJC5A, mir-941-2, mir-941-3, mir-941-4, mir-941-5, NCL
Links

HGNC:16235

NCBI Gene ID: 80331

neXtProt AC: NX_Q9H3Z4

UniProt: Q9H3Z4
Chr Location

20q13.33; chr20:63895126-63936031 (+) GRCh38

MGI Vertebrate Homology

Dnajc5 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: DNAJC5
Gene Tree

Dnajc5

Diseases

1 with human DNAJC5 associations

				Human Disease	Mouse Models
				neuronal ceroid lipofuscinosis 4 IDs neuronal ceroid lipofuscinosis 4 DOID:0110720 ICD10CM:E75.4 OMIM:162350 ORDO:228343

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

less

Phenotype Summary

33 phenotypes from 1 allele in 1 genetic background
17 phenotypes from multigenic genotypes
2 images
26 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

43
Endonuclease-mediated

2
Gene trapped

39
Targeted

2
Incidental Mutations

APF
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene die within the first 3 months of live and abnormalities in their neuromuscular synapses. This results in various defects in movement and coordination.

less

All GO Annotations

37
GO References

11

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

707
Tissues

1
cDNA Data

15
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 dnajc5

ZFIN dnajc5aa, dnajc5ab

less

All Sequences

79
RefSeq

15
UniProt

5
CCDS

CCDS17215.1

Ensembl

ENSMUSG00000000826 (Evidence)
NCBI Gene

13002

			Length	Strain/Species	Flank
genomic	13002	NCBI Gene Model \| MGI Sequence Detail	32539	C57BL/6J	± kb
transcript	NM_001271585	RefSeq \| MGI Sequence Detail	4405	Not Specified
polypeptide	P60904	UniProt \| EBI \| MGI Sequence Detail	198	Not Applicable

less

UniProt

5 Sequences
Protein Ontology

PR:000006588 DnaJ homolog subfamily C member 5

(term hierarchy)
PDB

2CTW
InterPro Domains

IPR036869 Chaperone J-domain superfamily

IPR001623 DnaJ domain

IPR018253 DnaJ domain, conserved site

IPR051434 DnaJ homolog subfamily C member 5

less

All nucleic 18

cDNA 17

Other 1

Microarray probesets 10

less

MGI:1919766, MGI:2139168

Summaries

All 67

Developmental Gene Expression 3

Gene Ontology 11

Phenotypes 26
Earliest

J:37096 Chin H, et al., Genetic mapping of the gene encoding cysteine string protein. Mamm Genome. 1997 Jun;8(6):456-7
Latest

J:340778 Dash S, et al., rRNA transcription is integral to phase separation and maintenance of nucleolar structure. PLoS Genet. 2023 Aug;19(8):e1010854

TSS for Dnajc5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr22317	Chr2:181162306-181162324 (+)	174 bp
Tssr22318	Chr2:181162326-181162356 (+)	200 bp
Tssr22319	Chr2:181162375-181162386 (+)	240 bp
Tssr22320	Chr2:181167557-181167601 (+)	5,438 bp
Tssr22321	Chr2:181182282-181182287 (+)	20,144 bp
Tssr22322	Chr2:181185218-181185225 (+)	23,081 bp
Tssr810	Chr2:181188208-181188220 (+)	26,073 bp
Tssr22323	Chr2:181192170-181192181 (+)	30,035 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 12/10/2024 MGI 6.24