This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] See more...

Aliases for DIPK1C Gene

Aliases for DIPK1C Gene

  • Divergent Protein Kinase Domain 1C 2 3 4 5
  • Family With Sequence Similarity 69 Member C 2 3
  • Protein FAM69C 3 4
  • C18orf51 3 4
  • FAM69C 3 4
  • Family With Sequence Similarity 69, Member C 2
  • Chromosome 18 Open Reading Frame 51 2
  • DIPK1C 5

External Ids for DIPK1C Gene

Previous HGNC Symbols for DIPK1C Gene

  • C18orf51
  • FAM69C

Summaries for DIPK1C Gene

Entrez Gene Summary for DIPK1C Gene

  • This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

GeneCards Summary for DIPK1C Gene

DIPK1C (Divergent Protein Kinase Domain 1C) is a Protein Coding gene. Diseases associated with DIPK1C include Homocarnosinosis and Osteopetrosis, Autosomal Recessive 2. An important paralog of this gene is DIPK1B.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DIPK1C Gene

Genomics for DIPK1C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DIPK1C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J074480 Promoter/Enhancer 1.4 EPDnew FANTOM5 ENCODE 250.4 -15.9 -15930 2.4 NCOR1 IKZF1 KLF9 CEBPA ATF3 NFIC CHD4 YY1 HES1 MNT DIPK1C CNDP2 MK280144-317 ENSG00000287689 HSALNG0122442
GH18J074454 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 262.1 +8.1 8145 3.8 ZBTB10 EZH2 GLIS2 ZNF335 ZBTB26 DIPK1C HSALNG0122440 CNDP2 C18orf63
GH18J074463 Enhancer 0.3 ENCODE dbSUPER 250.7 +1.2 1229 0.8 DIPK1C CNDP2 HSALNG0122440 C18orf63
GH18J074468 Enhancer 0.8 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -4.1 -4108 1.1 HSALNG0122442 DIPK1C CNDP1 FBXO15 ENSG00000287689 HSALNG0122441-001 CNDP2
GH18J074459 Enhancer 0.8 Ensembl ENCODE dbSUPER 8.5 +4.5 4488 1.9 CTCF ZNF366 RAD21 SMC3 ZNF24 XRCC5 CNDP2 DIPK1C HSALNG0122440 C18orf63
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DIPK1C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DIPK1C

Genomic Locations for DIPK1C Gene

Latest Assembly
chr18:74,434,775-74,464,646
(GRCh38/hg38)
Size:
29,872 bases
Orientation:
Minus strand

Previous Assembly
chr18:72,102,010-72,124,543
(GRCh37/hg19 by Entrez Gene)
Size:
22,534 bases
Orientation:
Minus strand

chr18:72,102,963-72,125,179
(GRCh37/hg19 by Ensembl)
Size:
22,217 bases
Orientation:
Minus strand

Genomic View for DIPK1C Gene

Genes around DIPK1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIPK1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIPK1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIPK1C Gene

Proteins for DIPK1C Gene

  • Protein details for DIPK1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0P6D2-DIK1C_HUMAN
    Recommended name:
    Divergent protein kinase domain 1C
    Protein Accession:
    Q0P6D2

    Protein attributes for DIPK1C Gene

    Size:
    419 amino acids
    Molecular mass:
    46420 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DIPK1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIPK1C Gene

Post-translational modifications for DIPK1C Gene

  • Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds.

Other Protein References for DIPK1C Gene

No data available for DME Specific Peptides for DIPK1C Gene

Domains & Families for DIPK1C Gene

Gene Families for DIPK1C Gene

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

Protein Domains for DIPK1C Gene

Suggested Antigen Peptide Sequences for DIPK1C Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM69C (FA69C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q0P6D2

UniProtKB/Swiss-Prot:

DIK1C_HUMAN :
  • Belongs to the DIPK family.
Family:
  • Belongs to the DIPK family.
genes like me logo Genes that share domains with DIPK1C: view

Function for DIPK1C Gene

Phenotypes From GWAS Catalog for DIPK1C Gene

Phenotypes for DIPK1C Gene

genes like me logo Genes that share phenotypes with DIPK1C: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIPK1C

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DIPK1C Gene

Localization for DIPK1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIPK1C Gene

Endoplasmic reticulum membrane. Single-pass type II 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 DIPK1C gene
Compartment Confidence
extracellular 1
mitochondrion 1
plasma membrane 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for DIPK1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DIPK1C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DIPK1C Gene

Pathways & Interactions for DIPK1C Gene

PathCards logo

SuperPathways for DIPK1C Gene

No Data Available

Interacting Proteins for DIPK1C Gene

Gene Ontology (GO) - Biological Process for DIPK1C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DIPK1C Gene

Drugs & Compounds for DIPK1C Gene

No Compound Related Data Available

Transcripts for DIPK1C Gene

mRNA/cDNA for DIPK1C Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
2 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 DIPK1C

Alternative Splicing Database (ASD) splice patterns (SP) for DIPK1C Gene

No ASD Table

Relevant External Links for DIPK1C Gene

GeneLoc Exon Structure for
DIPK1C

Expression for DIPK1C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DIPK1C

SOURCE GeneReport for Unigene cluster for DIPK1C Gene:

Hs.371690
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DIPK1C Gene

Orthologs for DIPK1C Gene

This gene was present in the common ancestor of animals.

Orthologs for DIPK1C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM69C 29 30
  • 99.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam69c 29
  • 81.66 (n)
Cow
(Bos Taurus)
Mammalia FAM69C 29 30
  • 80.22 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam69c 29 30
  • 79.67 (n)
OneToOne
Dipk1c 16
Dog
(Canis familiaris)
Mammalia FAM69C 29 30
  • 76.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAM69C 30
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM69C 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM69C 29 30
  • 69.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM69C 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam69c 29
  • 60.19 (n)
Str.12002 29
Zebrafish
(Danio rerio)
Actinopterygii fam69c 29 30
  • 60.22 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG12038 30
  • 21 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C53D5.1 30
  • 20 (a)
OneToOne
Species where no ortholog for DIPK1C 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 DIPK1C Gene

ENSEMBL:
Gene Tree for DIPK1C (if available)
TreeFam:
Gene Tree for DIPK1C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DIPK1C: view image
Alliance of Genome Resources:
Additional Orthologs for DIPK1C

Paralogs for DIPK1C Gene

Paralogs for DIPK1C Gene

genes like me logo Genes that share paralogs with DIPK1C: view

Variants for DIPK1C Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DIPK1C 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 DIPK1C Gene

Variant ID Type Subtype PubMed ID
dgv3401n100 CNV gain 25217958
esv1000434 CNV deletion 20482838
esv3643115 CNV loss 21293372
esv3643117 CNV loss 21293372
esv3643118 CNV gain 21293372
nsv1057441 CNV gain 25217958
nsv1064324 CNV gain 25217958
nsv1067091 CNV loss 25217958
nsv458298 CNV gain 19166990
nsv527671 CNV gain 19592680
nsv577652 CNV gain 21841781
nsv577653 CNV gain 21841781
nsv577654 CNV gain 21841781

Variation tolerance for DIPK1C Gene

Gene Damage Index Score: 4.64; 65.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DIPK1C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIPK1C
Leiden Open Variation Database (LOVD)
DIPK1C

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 DIPK1C Gene

Disorders for DIPK1C Gene

MalaCards: The human disease database

(2) MalaCards diseases for DIPK1C Gene - From: COP

Disorder Aliases PubMed IDs
homocarnosinosis
  • homocarnosinase deficiency
osteopetrosis, autosomal recessive 2
  • optb2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DIPK1C

genes like me logo Genes that share disorders with DIPK1C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DIPK1C Gene

Publications for DIPK1C Gene

  1. A novel predicted calcium-regulated kinase family implicated in neurological disorders. (PMID: 23840464) Dudkiewicz M … Pawłowski K (PloS one 2013) 2 3
  2. Characterisation of the FAM69 family of cysteine-rich endoplasmic reticulum proteins. (PMID: 21334309) Tennant-Eyles AJ … Roberts RG (Biochemical and biophysical research communications 2011) 2 3
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3
  5. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 4

Products for DIPK1C Gene

Sources for DIPK1C Gene