Aliases for C4orf45 Gene

Aliases for C4orf45 Gene

  • Chromosome 4 Open Reading Frame 45 2 3 5
  • Uncharacterized Protein C4orf45 3 4
  • FLJ25371 2
  • C4orf45 5

External Ids for C4orf45 Gene

Previous GeneCards Identifiers for C4orf45 Gene

  • GC04M160035
  • GC04M159814
  • GC04M155564

Summaries for C4orf45 Gene

GeneCards Summary for C4orf45 Gene

C4orf45 (Chromosome 4 Open Reading Frame 45) is a Protein Coding gene. Diseases associated with C4orf45 include Hyperekplexia.

Additional gene information for C4orf45 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C4orf45 Gene

Genomics for C4orf45 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C4orf45 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 C4orf45 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C4orf45

Top Transcription factor binding sites by QIAGEN in the C4orf45 gene promoter:
  • AREB6
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO1
  • FOXO1a
  • HNF-1
  • HNF-1A
  • S8
  • Sox9

Genomic Locations for C4orf45 Gene

Latest Assembly
chr4:158,893,134-159,082,883
(GRCh38/hg38)
Size:
189,750 bases
Orientation:
Minus strand

Previous Assembly
chr4:159,814,286-159,956,381
(GRCh37/hg19 by Entrez Gene)
Size:
142,096 bases
Orientation:
Minus strand

chr4:159,814,286-159,959,912
(GRCh37/hg19 by Ensembl)
Size:
145,627 bases
Orientation:
Minus strand

Genomic View for C4orf45 Gene

Genes around C4orf45 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C4orf45 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C4orf45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C4orf45 Gene

Proteins for C4orf45 Gene

  • Protein details for C4orf45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96LM5-CD045_HUMAN
    Recommended name:
    Uncharacterized protein C4orf45
    Protein Accession:
    Q96LM5
    Secondary Accessions:
    • A8MPU3
    • C9J0T8

    Protein attributes for C4orf45 Gene

    Size:
    186 amino acids
    Molecular mass:
    21723 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71665.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for C4orf45 Gene

Post-translational modifications for C4orf45 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C4orf45 Gene

No data available for DME Specific Peptides for C4orf45 Gene

Domains & Families for C4orf45 Gene

Gene Families for C4orf45 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C4orf45 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C4orf45: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C4orf45 Gene

Function for C4orf45 Gene

Phenotypes From GWAS Catalog for C4orf45 Gene

Gene Ontology (GO) - Molecular Function for C4orf45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with C4orf45: view
genes like me logo Genes that share phenotypes with C4orf45: view

Animal Models for C4orf45 Gene

MGI Knock Outs for C4orf45:
  • Gm17359 Gm17359<tm1b(EUCOMM)Hmgu>

miRNA for C4orf45 Gene

miRTarBase miRNAs that target C4orf45

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C4orf45

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C4orf45 Gene

Localization for C4orf45 Gene

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 C4orf45 gene
Compartment Confidence
nucleus 2
mitochondrion 0
cytosol 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C4orf45 Gene

Pathways & Interactions for C4orf45 Gene

PathCards logo

SuperPathways for C4orf45 Gene

No Data Available

Interacting Proteins for C4orf45 Gene

Gene Ontology (GO) - Biological Process for C4orf45 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C4orf45 Gene

Drugs & Compounds for C4orf45 Gene

No Compound Related Data Available

Transcripts for C4orf45 Gene

mRNA/cDNA for C4orf45 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 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 C4orf45

Alternative Splicing Database (ASD) splice patterns (SP) for C4orf45 Gene

No ASD Table

Relevant External Links for C4orf45 Gene

GeneLoc Exon Structure for
C4orf45

Expression for C4orf45 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C4orf45 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for C4orf45 Gene

This gene is overexpressed in Testis (x36.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C4orf45

SOURCE GeneReport for Unigene cluster for C4orf45 Gene:

Hs.415576

Evidence on tissue expression from TISSUES for C4orf45 Gene

  • Heart(2.5)
  • Nervous system(2.4)
  • Stomach(2.2)
  • Muscle(2.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with C4orf45: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C4orf45 Gene

Orthologs for C4orf45 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C4orf45 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C4H4orf45 30
  • 98.82 (n)
C4orf45 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C15H4orf45 30
  • 80.54 (n)
C4orf45 31
  • 67 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gm17359 30 17 31
  • 75.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C17H4orf45 30 31
  • 74.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC499643 30
  • 74.17 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia C4orf45 31
  • 42 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C4orf45 31
  • 36 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C4H4ORF45 30
  • 52.67 (n)
C4orf45 31
  • 28 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100493543 30
  • 52.31 (n)
Species where no ortholog for C4orf45 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for C4orf45 Gene

ENSEMBL:
Gene Tree for C4orf45 (if available)
TreeFam:
Gene Tree for C4orf45 (if available)

Paralogs for C4orf45 Gene

No data available for Paralogs for C4orf45 Gene

Variants for C4orf45 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C4orf45 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs10517695 - p.Arg134His
rs17037858 - p.Tyr84Cys
rs17037864 - p.Ala46Val
rs619128 - p.Gly93Glu
rs662473 - p.Ser75Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C4orf45 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 C4orf45 Gene

Variant ID Type Subtype PubMed ID
esv3569768 CNV loss 25503493
nsv4571 CNV deletion 18451855
nsv830127 CNV loss 17160897
nsv830128 CNV gain 17160897
nsv966332 CNV duplication 23825009
nsv967806 CNV duplication 23825009

Variation tolerance for C4orf45 Gene

Residual Variation Intolerance Score: 91.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.25; 70.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C4orf45 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C4orf45

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C4orf45 Gene

Disorders for C4orf45 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C4orf45 Gene - From: COP

Disorder Aliases PubMed IDs
hyperekplexia
  • congenital stiff man syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C4orf45

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C4orf45: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C4orf45 Gene

Publications for C4orf45 Gene

  1. 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 41
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. (PMID: 25798074) Basei FL … Kobarg J (Proteome science 2015) 3
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4

Products for C4orf45 Gene

Sources for C4orf45 Gene