Aliases for DNAJC14 Gene

Aliases for DNAJC14 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C14 2 3 5
  • DRIP78 2 3 4
  • HDJ3 2 3 4
  • Dopamine Receptor-Interacting Protein Of 78 KDa 3 4
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 14 2 3
  • DnaJ Homolog Subfamily C Member 14 3 4
  • DnaJ Protein Homolog 3 3 4
  • Human DnaJ Protein 3 3 4
  • HDj-3 3 4
  • DNAJ 2 3
  • LIP6 2 3
  • Dopamine Receptor Interacting Protein 3
  • LYST-Interacting Protein LIP6 3
  • FLJ32792 2
  • DNAJC14 5

External Ids for DNAJC14 Gene

Previous GeneCards Identifiers for DNAJC14 Gene

  • GC12M054439
  • GC12M054440
  • GC12M054501
  • GC12M056214
  • GC12M053253

Summaries for DNAJC14 Gene

GeneCards Summary for DNAJC14 Gene

DNAJC14 (DnaJ Heat Shock Protein Family (Hsp40) Member C14) is a Protein Coding gene. Diseases associated with DNAJC14 include Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct and Yellow Fever. An important paralog of this gene is ENSG00000257390.

UniProtKB/Swiss-Prot Summary for DNAJC14 Gene

  • Regulates the export of target proteins, such as DRD1, from the endoplasmic reticulum to the cell surface.

Gene Wiki entry for DNAJC14 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJC14 Gene

Genomics for DNAJC14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNAJC14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJC14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJC14

Top Transcription factor binding sites by QIAGEN in the DNAJC14 gene promoter:
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • TGIF
  • ZID

Genomic Locations for DNAJC14 Gene

Latest Assembly
chr12:55,820,960-55,830,824
(GRCh38/hg38)
Size:
9,865 bases
Orientation:
Minus strand

Previous Assembly
chr12:56,214,769-56,223,371
(GRCh37/hg19 by Entrez Gene)
Size:
8,603 bases
Orientation:
Minus strand

chr12:56,214,744-56,224,608
(GRCh37/hg19 by Ensembl)
Size:
9,865 bases
Orientation:
Minus strand

Genomic View for DNAJC14 Gene

Genes around DNAJC14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC14 Gene

Proteins for DNAJC14 Gene

  • Protein details for DNAJC14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6Y2X3-DJC14_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 14
    Protein Accession:
    Q6Y2X3
    Secondary Accessions:
    • A5YM67
    • Q17RY2
    • Q66K17
    • Q96N59
    • Q96T63

    Protein attributes for DNAJC14 Gene

    Size:
    702 amino acids
    Molecular mass:
    78569 Da
    Quaternary structure:
    • Interacts with the FxxxFxxxF motif of DRD1 via its C-terminal domain.
    SequenceCaution:
    • Sequence=BAB71050.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DNAJC14 Gene

Post-translational modifications for DNAJC14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAJC14 Gene

No data available for DME Specific Peptides for DNAJC14 Gene

Domains & Families for DNAJC14 Gene

Gene Families for DNAJC14 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DNAJC14 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAJC14 Gene

GenScript: Design optimal peptide antigens:
  • Human DnaJ protein 3 (DJC14_HUMAN)
genes like me logo Genes that share domains with DNAJC14: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DNAJC14 Gene

Function for DNAJC14 Gene

Molecular function for DNAJC14 Gene

UniProtKB/Swiss-Prot Function:
Regulates the export of target proteins, such as DRD1, from the endoplasmic reticulum to the cell surface.

Phenotypes From GWAS Catalog for DNAJC14 Gene

genes like me logo Genes that share phenotypes with DNAJC14: view

Animal Models for DNAJC14 Gene

MGI Knock Outs for DNAJC14:

miRNA for DNAJC14 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC14

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DNAJC14 Gene

Localization for DNAJC14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC14 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJC14 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 2
endoplasmic reticulum 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for DNAJC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DNAJC14: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAJC14 Gene

Pathways & Interactions for DNAJC14 Gene

PathCards logo

SuperPathways for DNAJC14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAJC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with DNAJC14: view

No data available for Pathways by source and SIGNOR curated interactions for DNAJC14 Gene

Drugs & Compounds for DNAJC14 Gene

(1) Drugs for DNAJC14 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DNAJC14: view

Transcripts for DNAJC14 Gene

mRNA/cDNA for DNAJC14 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC14

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC14 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1:
SP2: - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:

ExUns: 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for DNAJC14 Gene

GeneLoc Exon Structure for
DNAJC14

Expression for DNAJC14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAJC14 Gene

Protein differential expression in normal tissues from HIPED for DNAJC14 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (29.4), Placenta (21.5), CD8 Tcells (9.3), and Testis (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNAJC14 Gene



Protein tissue co-expression partners for DNAJC14 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJC14

SOURCE GeneReport for Unigene cluster for DNAJC14 Gene:

Hs.709320

mRNA Expression by UniProt/SwissProt for DNAJC14 Gene:

Q6Y2X3-DJC14_HUMAN
Tissue specificity: Highly expressed in pancreas and selectively expressed in brain, lung, liver, skeletal muscle and kidney.

Evidence on tissue expression from TISSUES for DNAJC14 Gene

  • Nervous system(4.6)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with DNAJC14: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC14 Gene

Orthologs for DNAJC14 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAJC14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DNAJC14 30 31
  • 99.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DNAJC14 30
  • 91.69 (n)
-- 31
  • 91 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia DNAJC14 30 31
  • 90.53 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Dnajc14 30 17 31
  • 86.31 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Dnajc14 30
  • 86.21 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 49 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 79 (a)
OneToMany
LOC426418 30
  • 74.47 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 52 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dnajc14 30
  • 58.06 (n)
Zebrafish
(Danio rerio)
Actinopterygii DNAJC14 31
  • 71 (a)
OneToMany
LOC555824 30
  • 66.67 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG14650 31
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dnj-5 31
  • 14 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HLJ1 31
  • 17 (a)
OneToMany
Species where no ortholog for DNAJC14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DNAJC14 Gene

ENSEMBL:
Gene Tree for DNAJC14 (if available)
TreeFam:
Gene Tree for DNAJC14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAJC14: view image

Paralogs for DNAJC14 Gene

Variants for DNAJC14 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNAJC14 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DNAJC14 Gene

Variant ID Type Subtype PubMed ID
esv2675015 CNV deletion 23128226
nsv832423 CNV gain 17160897

Variation tolerance for DNAJC14 Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJC14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC14

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJC14 Gene

Disorders for DNAJC14 Gene

MalaCards: The human disease database

(7) MalaCards diseases for DNAJC14 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
deafness, autosomal recessive 4, with enlarged vestibular aqueduct
  • dfnb4
yellow fever
  • jungle yellow fever
post-vaccinal encephalitis
  • encephalitis following immunization procedures
familial glucocorticoid deficiency
  • glucocorticoid deficiency, familial
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNAJC14

genes like me logo Genes that share disorders with DNAJC14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAJC14 Gene

Publications for DNAJC14 Gene

  1. Molecular cloning and characterization of a novel human J-domain protein gene (HDJ3) from the fetal brain. (PMID: 12768437) Chen J … Xie Y (Journal of human genetics 2003) 3 4 23
  2. Regulation of transport of the dopamine D1 receptor by a new membrane-associated ER protein. (PMID: 11331877) Bermak JC … Zhou QY (Nature cell biology 2001) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. (PMID: 11984006) Tchernev VT … Kingsmore SF (Molecular medicine (Cambridge, Mass.) 2002) 2 3

Products for DNAJC14 Gene

Sources for DNAJC14 Gene