Aliases for C11orf45 Gene

Aliases for C11orf45 Gene

  • Chromosome 11 Open Reading Frame 45 2 3 5
  • Putative Uncharacterized Protein C11orf45 3 4

External Ids for C11orf45 Gene

Previous GeneCards Identifiers for C11orf45 Gene

  • GC11M128275
  • GC11M128769
  • GC11M124719

Summaries for C11orf45 Gene

GeneCards Summary for C11orf45 Gene

C11orf45 (Chromosome 11 Open Reading Frame 45) is a Protein Coding gene. Diseases associated with C11orf45 include Familial Hyperaldosteronism.

Additional gene information for C11orf45 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 C11orf45 Gene

Genomics for C11orf45 Gene

GeneHancer (GH) Regulatory Elements for C11orf45 Gene

Promoters and enhancers for C11orf45 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
GH11J128905 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 757.7 +4.9 4887 3.7 CTCF MAX RAD21 GLIS2 PKNOX1 ZIC2 ZBTB8A PATZ1 SP2 EZH2 C11orf45 lnc-C11orf45-1 TP53AIP1 KCNJ5 lnc-C11orf45-2
GH11J128907 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 767 +0.9 856 1.7 CEBPB JUN JUND MAX EZH2 EP300 RCOR1 FOSL2 FOS C11orf45 lnc-C11orf45-1 KCNJ5
GH11J128860 Enhancer 0.5 Ensembl ENCODE 28.5 +48.5 48535 1.4 CTCF ZFX C11orf45 KCNJ5 KCNJ1 lnc-C11orf45-3-002 lnc-C11orf45-3-001
GH11J128890 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 6.7 +16.7 16720 5.6 FOXA1 NR2F6 ETV6 HLF ZNF121 ELF3 SP1 CBFA2T2 CEBPG SP7 KCNJ5 lnc-C11orf45-2 TP53AIP1 C11orf45
GH11J128172 Enhancer 1 Ensembl ENCODE dbSUPER 10.7 +737.6 737598 1.8 CTCF RAD21 ZNF384 REST TRIM22 JUND SMC3 RCOR1 NR2F2 JUN C11orf45 LINC02725 lnc-ETS1-2 ENSG00000273415
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C11orf45 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C11orf45 gene promoter:
  • E47
  • GATA-2
  • HOXA5
  • Nkx2-5
  • SRY
  • STAT1
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4

Genomic Locations for C11orf45 Gene

Genomic Locations for C11orf45 Gene
chr11:128,899,565-128,909,717
(GRCh38/hg38)
Size:
10,153 bases
Orientation:
Minus strand
chr11:128,769,460-128,775,930
(GRCh37/hg19)
Size:
6,471 bases
Orientation:
Minus strand

Genomic View for C11orf45 Gene

Genes around C11orf45 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C11orf45 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C11orf45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C11orf45 Gene

Proteins for C11orf45 Gene

  • Protein details for C11orf45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAV5-CK045_HUMAN
    Recommended name:
    Putative uncharacterized protein C11orf45
    Protein Accession:
    Q8TAV5
    Secondary Accessions:
    • B2RAD0

    Protein attributes for C11orf45 Gene

    Size:
    145 amino acids
    Molecular mass:
    15559 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C11orf45 Gene

Post-translational modifications for C11orf45 Gene

  • Glycosylation at Asn98
  • Modification sites at PhosphoSitePlus

Other Protein References for C11orf45 Gene

No data available for DME Specific Peptides for C11orf45 Gene

Domains & Families for C11orf45 Gene

Gene Families for C11orf45 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C11orf45 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C11orf45: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C11orf45 Gene

Function for C11orf45 Gene

Phenotypes From GWAS Catalog for C11orf45 Gene

genes like me logo Genes that share phenotypes with C11orf45: view

Animal Model Products

CRISPR Products

Clone Products

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 C11orf45 Gene

Localization for C11orf45 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C11orf45 Gene

Secreted.

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 C11orf45 gene
Compartment Confidence
extracellular 4
cytosol 2
mitochondrion 1
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C11orf45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C11orf45: view

Pathways & Interactions for C11orf45 Gene

PathCards logo

SuperPathways for C11orf45 Gene

No Data Available

Interacting Proteins for C11orf45 Gene

Selected Interacting proteins: Q8TAV5-CK045_HUMAN for C11orf45 Gene via IID

Symbol External ID(s) Details
APP

Gene Ontology (GO) - Biological Process for C11orf45 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C11orf45 Gene

Drugs & Compounds for C11orf45 Gene

No Compound Related Data Available

Transcripts for C11orf45 Gene

mRNA/cDNA for C11orf45 Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf45 Gene

No ASD Table

Relevant External Links for C11orf45 Gene

GeneLoc Exon Structure for
C11orf45
ECgene alternative splicing isoforms for
C11orf45

Expression for C11orf45 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C11orf45 Gene

NURSA nuclear receptor signaling pathways regulating expression of C11orf45 Gene:

C11orf45

SOURCE GeneReport for Unigene cluster for C11orf45 Gene:

Hs.689860

Evidence on tissue expression from TISSUES for C11orf45 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with C11orf45: view

No data available for 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for C11orf45 Gene

Orthologs for C11orf45 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for C11orf45 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C11H11orf45 32
  • 99.31 (n)
C11orf45 33
  • 98 (a)
OneToOne
Species where no ortholog for C11orf45 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C11orf45 Gene

ENSEMBL:
Gene Tree for C11orf45 (if available)
TreeFam:
Gene Tree for C11orf45 (if available)

Paralogs for C11orf45 Gene

No data available for Paralogs for C11orf45 Gene

Variants for C11orf45 Gene

Sequence variations from dbSNP and Humsavar for C11orf45 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs115012103 likely-benign, benign, Long QT syndrome, Cardiovascular phenotype, Romano-Ward syndrome, Familial hyperaldosteronism, not specified 128,911,394(-) C/T upstream_transcript_variant
rs139073333 uncertain-significance, Long QT syndrome 128,911,395(-) G/A/T upstream_transcript_variant
rs140848236 likely-benign, benign, not specified, Long QT syndrome 128,911,465(-) C/T upstream_transcript_variant
rs1555144849 uncertain-significance, Long QT syndrome 128,911,314(-) A/T upstream_transcript_variant
rs372447456 uncertain-significance, not specified, Long QT syndrome 128,911,406(-) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C11orf45 Gene

Variant ID Type Subtype PubMed ID
nsv468892 CNV loss 19166990
nsv556563 CNV loss 21841781

Variation tolerance for C11orf45 Gene

Residual Variation Intolerance Score: 73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C11orf45 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C11orf45

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C11orf45 Gene

Disorders for C11orf45 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C11orf45 Gene - From: GeneCards

Disorder Aliases PubMed IDs
familial hyperaldosteronism
  • fh
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C11orf45

genes like me logo Genes that share disorders with C11orf45: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C11orf45 Gene

Publications for C11orf45 Gene

  1. 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 56
  2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 56
  3. 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 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 56
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 56

Products for C11orf45 Gene

Sources for C11orf45 Gene