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Aliases for C11orf49 Gene

Aliases for C11orf49 Gene

  • Chromosome 11 Open Reading Frame 49 2 3 5

External Ids for C11orf49 Gene

Previous GeneCards Identifiers for C11orf49 Gene

  • GC11P046663

Summaries for C11orf49 Gene

GeneCards Summary for C11orf49 Gene

C11orf49 (Chromosome 11 Open Reading Frame 49) is a Protein Coding gene.

Gene Wiki entry for C11orf49 Gene

Additional gene information for C11orf49 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C11orf49 Gene

Genomics for C11orf49 Gene

Regulatory Elements for C11orf49 Gene

Enhancers for C11orf49 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H047152 1.4 Ensembl ENCODE dbSUPER 43.2 +217.2 217192 1 ELF3 RB1 TBL1XR1 ARNT ARID4B SIN3A ZNF2 RAD21 RFX5 ZSCAN5C C11orf49 LRP4 ARFGAP2 PACSIN3 ENSG00000271350 GC11P047160 ENSG00000255520
GH11H046344 1.5 Ensembl ENCODE dbSUPER 16 -586.6 -586623 10 HDGF ARNT ZNF133 SIN3A ZNF2 YY1 GLIS2 ZNF143 ATF7 RUNX3 C11orf49 LOC105376662 LOC101928894 SNORD67 ENSG00000255447 ENSG00000254514 MDK CHRM4 CREB3L1 LINC02489
GH11H047354 1.6 Ensembl ENCODE dbSUPER 10.8 +418.9 418905 1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B CBX5 ZNF143 DEK NUP160 FNBP4 ENSG00000200090 C1QTNF4 ENSG00000270060 AMBRA1 RPS10P19 DDB2 ZNF408 SLC39A13
GH11H046699 1.4 ENCODE dbSUPER 10.9 -235.7 -235657 2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 AMBRA1 KBTBD4 ZNF408 SNORD67 LOC105376662 LOC101928894 ENSG00000255447 ARHGAP1 C1QTNF4 ENSG00000270060
GH11H047424 1.4 ENCODE dbSUPER 10.9 +489.7 489664 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 C1QTNF4 MADD ARFGAP2 C11orf49 KBTBD4 FNBP4 ACP2 PSMC3 ENSG00000255197 PTPRJ
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C11orf49 on UCSC Golden Path with GeneCards custom track

Promoters for C11orf49 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039613 372 1001 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Location for C11orf49 Gene

Chromosome:
11
Start:
46,936,528 bp from pter
End:
47,164,385 bp from pter
Size:
227,858 bases
Orientation:
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:
    Q9H6J7-CK049_HUMAN
    Recommended name:
    UPF0705 protein C11orf49
    Protein Accession:
    Q9H6J7
    Secondary Accessions:
    • D3DQQ8
    • E9PAX7
    • Q7L077
    • Q96CS8
    • Q9BQH4
    • Q9BUW5

    Protein attributes for C11orf49 Gene

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

    Alternative splice isoforms for C11orf49 Gene

    UniProtKB/Swiss-Prot:

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

ProtoNet:

Suggested Antigen Peptide Sequences for C11orf49 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H6J7

UniProtKB/Swiss-Prot:

CK049_HUMAN :
  • Belongs to the UPF0705 family.
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

Inhibitory RNA Products

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

Localization for C11orf49 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 C11orf49 gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 1
peroxisome 1

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

SuperPathways for C11orf49 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C11orf49 Gene

None

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

Unigene Clusters for C11orf49 Gene

Chromosome 11 open reading frame 49:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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: -
SP4:

Relevant External Links for C11orf49 Gene

GeneLoc Exon Structure for
C11orf49
ECgene alternative splicing isoforms for
C11orf49

Expression for C11orf49 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for C11orf49 Gene



Protein tissue co-expression partners for C11orf49 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C11orf49 Gene:

C11orf49

SOURCE GeneReport for Unigene cluster for C11orf49 Gene:

Hs.368296

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia C11H11orf49 33
  • 99.51 (n)
C11ORF49 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C11ORF49 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C15H11orf49 33
  • 89.73 (n)
C11orf49 34
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1309540 33
  • 88.12 (n)
mouse
(Mus musculus)
Mammalia 1110051M20Rik 33 16 34
  • 87.81 (n)
oppossum
(Monodelphis domestica)
Mammalia C11orf49 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C11orf49 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves C11orf49 34
  • 76 (a)
OneToOne
C11ORF49 33
  • 74.47 (n)
lizard
(Anolis carolinensis)
Reptilia C11orf49 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c11orf49 33
  • 64.43 (n)
Str.11880 33
zebrafish
(Danio rerio)
Actinopterygii zgc:92873 33
  • 60.18 (n)
C25H11orf49 34
  • 56 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6650 34
  • 44 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C11orf49 (if available)
TreeFam:
Gene Tree for C11orf49 (if available)

Paralogs for C11orf49 Gene

No data available for Paralogs for C11orf49 Gene

Variants for C11orf49 Gene

Sequence variations from dbSNP and Humsavar for C11orf49 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000016350 -- 46,969,386(+) AATGG(C/T)AAAAG intron-variant
rs1000034755 -- 47,020,743(+) TAACT(A/G)AAACA intron-variant
rs1000037381 -- 46,956,929(+) TATAT(A/G)TACAC intron-variant
rs1000043893 -- 47,139,831(+) GAACC(A/G)CAGTC intron-variant
rs1000057447 -- 47,122,716(+) CTGGG(A/G)TTACA intron-variant

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)

Relevant External Links for C11orf49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C11orf49

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C11orf49 Gene

Disorders for C11orf49 Gene

Relevant External Links for C11orf49

Genetic Association Database (GAD)
C11orf49
Human Genome Epidemiology (HuGE) Navigator
C11orf49
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C11orf49

No disorders were found for C11orf49 Gene.

No data available for MalaCards , 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 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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 60
  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 60
  5. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 3 4 60

Products for C11orf49 Gene

Sources for C11orf49 Gene

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