Aliases for C11orf49 Gene

Aliases for C11orf49 Gene

  • Chromosome 11 Open Reading Frame 49 2 3 5
  • UPF0705 Protein C11orf49 3 4

External Ids for C11orf49 Gene

Previous GeneCards Identifiers for C11orf49 Gene

  • GC11P046915
  • GC11P046663

Summaries for C11orf49 Gene

GeneCards Summary for C11orf49 Gene

C11orf49 (Chromosome 11 Open Reading Frame 49) is a Protein Coding gene. Diseases associated with C11orf49 include Cole-Carpenter Syndrome.

Gene Wiki entry for C11orf49 Gene

Additional gene information for C11orf49 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C11orf49 Gene

Genomics for C11orf49 Gene

GeneHancer (GH) Regulatory Elements for C11orf49 Gene

Promoters and enhancers for C11orf49 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J046935 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 507.5 +0.3 346 1.9 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A TCF12 POLR2G SP1 PHF8 SIX5 C11orf49 LRP4 piR-51137-022
GH11J046927 Promoter 0.5 EPDnew 500.4 -9.2 -9235 0.1 ZBTB33 TRIM24 C11orf49 RF00017-911 ENSG00000286450
GH11J047153 Enhancer 1.2 Ensembl ENCODE dbSUPER 43.3 +218.5 218507 5.9 ZNF217 CTCF ZSCAN5C GABPA REST TGIF2 RAD21 EP300 SKI TRIM22 C11orf49 ENSG00000271350 LRP4 ARFGAP2 PACSIN3 ENSG00000270060 ENSG00000255520
GH11J046344 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16 -586.7 -586665 10.5 RXRA ZBTB40 EP300 CTCF NRF1 MYC SP1 PHF8 PHB2 ZIC2 DGKZ C11orf49 MDK CHRM4 CREB3L1 LINC02489 AMBRA1 PACSIN3 ATG13 ZNF408
GH11J046698 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 -235.7 -235727 3.6 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G USF1 SP1 ARHGAP1 ZNF408 HSALNG0084009 ENSG00000270060 DDB2 ENSG00000244313 C1QTNF4 C11orf49 MAPK8IP1 ENSG00000256897
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C11orf49 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C11orf49

Top Transcription factor binding sites by QIAGEN in the C11orf49 gene promoter:
  • AhR
  • AML1a
  • FOXC1
  • NF-E2 p45
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2

Genomic Locations for C11orf49 Gene

Genomic Locations for C11orf49 Gene
227,858 bases
Plus strand
227,697 bases
Plus strand

Genomic View for C11orf49 Gene

Genes around C11orf49 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C11orf49 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C11orf49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C11orf49 Gene

Proteins for C11orf49 Gene

  • Protein details for C11orf49 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    UPF0705 protein C11orf49
    Protein Accession:
    Secondary Accessions:
    • D3DQQ8
    • E9PAX7
    • Q7L077
    • Q96CS8
    • Q9BQH4
    • Q9BUW5

    Protein attributes for C11orf49 Gene

    331 amino acids
    Molecular mass:
    37353 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C11orf49 Gene


neXtProt entry for C11orf49 Gene

Post-translational modifications for C11orf49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C11orf49 Gene

Domains & Families for C11orf49 Gene

Gene Families for C11orf49 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C11orf49 Gene


Suggested Antigen Peptide Sequences for C11orf49 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79217 (B4DUV7_HUMAN)
  • UPF0705 protein C11orf49 (CK049_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UPF0705 family.
  • Belongs to the UPF0705 family.
genes like me logo Genes that share domains with C11orf49: view

Function for C11orf49 Gene

Phenotypes From GWAS Catalog for C11orf49 Gene

Gene Ontology (GO) - Molecular Function for C11orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C11orf49: view
genes like me logo Genes that share phenotypes with C11orf49: view

Animal Model Products

CRISPR Products

miRNA for C11orf49 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C11orf49

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C11orf49 Gene

Localization for C11orf49 Gene

Subcellular locations from

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 C11orf49 gene
Compartment Confidence
nucleus 3
cytosol 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C11orf49 Gene

Pathways & Interactions for C11orf49 Gene

PathCards logo

SuperPathways for C11orf49 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C11orf49 Gene


No data available for Pathways by source and SIGNOR curated interactions for C11orf49 Gene

Drugs & Compounds for C11orf49 Gene

No Compound Related Data Available

Transcripts for C11orf49 Gene

mRNA/cDNA for C11orf49 Gene

19 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C11orf49

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf49 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - -
SP2: -
SP3: -

Relevant External Links for C11orf49 Gene

GeneLoc Exon Structure for

Expression for C11orf49 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C11orf49 Gene

Protein differential expression in normal tissues from HIPED for C11orf49 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C11orf49 Gene

Protein tissue co-expression partners for C11orf49 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C11orf49

SOURCE GeneReport for Unigene cluster for C11orf49 Gene:


Evidence on tissue expression from TISSUES for C11orf49 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with C11orf49: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C11orf49 Gene

Orthologs for C11orf49 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C11orf49 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C11H11orf49 30
  • 99.51 (n)
C11ORF49 31
  • 99 (a)
(Canis familiaris)
Mammalia C11ORF49 31
  • 94 (a)
(Bos Taurus)
Mammalia C15H11orf49 30
  • 89.73 (n)
C11orf49 31
  • 81 (a)
(Rattus norvegicus)
Mammalia RGD1309540 30
  • 88.12 (n)
(Mus musculus)
Mammalia 1110051M20Rik 17 31 30
  • 87.81 (n)
(Monodelphis domestica)
Mammalia C11orf49 31
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia C11orf49 31
  • 57 (a)
(Gallus gallus)
Aves C11orf49 31
  • 76 (a)
C11ORF49 30
  • 74.47 (n)
(Anolis carolinensis)
Reptilia C11orf49 31
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c11orf49 30
  • 64.43 (n)
Str.11880 30
(Danio rerio)
Actinopterygii zgc:92873 30
  • 60.18 (n)
C25H11orf49 31
  • 56 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6650 31
  • 44 (a)
Species where no ortholog for C11orf49 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)
  • 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)
  • 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 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)

Evolution for C11orf49 Gene

Gene Tree for C11orf49 (if available)
Gene Tree for C11orf49 (if available)

Paralogs for C11orf49 Gene

No data available for Paralogs for C11orf49 Gene

Variants for C11orf49 Gene

Additional dbSNP identifiers (rs#s) for C11orf49 Gene

Structural Variations from Database of Genomic Variants (DGV) for C11orf49 Gene

Variant ID Type Subtype PubMed ID
dgv1778n54 CNV loss 21841781
dgv33n73 CNV deletion 24416366
dgv633n106 CNV deletion 24896259
esv23070 CNV gain 19812545
esv2542584 CNV deletion 19546169
esv2661994 CNV deletion 23128226
esv2675104 CNV deletion 23128226
esv2744435 CNV deletion 23290073
esv2864902 CNV deletion 24192839
esv3257162 CNV deletion 24192839
esv33095 CNV loss 17666407
esv3547704 CNV deletion 23714750
esv3579503 CNV loss 25503493
esv3626193 CNV loss 21293372
esv3626194 CNV loss 21293372
esv3626195 CNV loss 21293372
esv4508 CNV loss 18987735
esv990426 CNV loss 20482838
esv998583 CNV deletion 20482838
nsv1077614 CNV deletion 25765185
nsv1126292 CNV deletion 24896259
nsv312 CNV deletion 18451855
nsv313 CNV insertion 18451855
nsv498753 CNV loss 21111241
nsv508627 CNV deletion 20534489
nsv510253 OTHER sequence alteration 20534489
nsv512222 CNV loss 21212237
nsv514618 CNV loss 21397061
nsv526628 CNV loss 19592680
nsv554206 CNV gain 21841781
nsv554207 CNV loss 21841781
nsv554208 CNV gain+loss 21841781
nsv820057 CNV gain 19587683
nsv821175 CNV deletion 20802225
nsv825868 CNV loss 20364138
nsv825869 CNV loss 20364138
nsv972007 CNV duplication 23825009

Variation tolerance for C11orf49 Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C11orf49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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 C11orf49 Gene

Disorders for C11orf49 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C11orf49 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cole-carpenter syndrome
  • bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C11orf49

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with C11orf49: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C11orf49 Gene

Publications for C11orf49 Gene

  1. Genetic predictors of fibrin D-dimer levels in healthy adults. (PMID: 21502573) Smith NL … Hayward C (Circulation 2011) 3 41 54
  2. 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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 54
  5. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 3 4 54

Products for C11orf49 Gene

Sources for C11orf49 Gene