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Aliases for C15orf41 Gene

Aliases for C15orf41 Gene

  • Chromosome 15 Open Reading Frame 41 2 3
  • Uncharacterized Protein C15orf41 3
  • Protein HH114 4
  • HH114 3

External Ids for C15orf41 Gene

Summaries for C15orf41 Gene

Entrez Gene Summary for C15orf41 Gene

  • This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

GeneCards Summary for C15orf41 Gene

C15orf41 (Chromosome 15 Open Reading Frame 41) is a Protein Coding gene. Diseases associated with C15orf41 include dyserythropoietic anemia, congenital, type ib and dyserythropoietic anemia, congenital, type ia.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C15orf41 Gene

Genomics for C15orf41 Gene

Genomic Location for C15orf41 Gene

Start:
36,579,611 bp from pter
End:
36,810,248 bp from pter
Size:
230,638 bases
Orientation:
Plus strand

Genomic View for C15orf41 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C15orf41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C15orf41 Gene

Regulatory Elements for C15orf41 Gene

Proteins for C15orf41 Gene

  • Protein details for C15orf41 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2V0-CO041_HUMAN
    Recommended name:
    Uncharacterized protein C15orf41
    Protein Accession:
    Q9Y2V0
    Secondary Accessions:
    • B2RD87

    Protein attributes for C15orf41 Gene

    Size:
    281 amino acids
    Molecular mass:
    32264 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH06254.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for C15orf41 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C15orf41 Gene

Proteomics data for C15orf41 Gene at MOPED

Post-translational modifications for C15orf41 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys176

No data available for DME Specific Peptides for C15orf41 Gene

Domains for C15orf41 Gene

Protein Domains for C15orf41 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C15orf41 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C15orf41: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C15orf41 Gene

Function for C15orf41 Gene

Phenotypes for C15orf41 Gene

GenomeRNAi human phenotypes for C15orf41:
genes like me logo Genes that share phenotypes with C15orf41: view

miRNA for C15orf41 Gene

miRTarBase miRNAs that target C15orf41

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for C15orf41 Gene

Localization for C15orf41 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C15orf41 Gene COMPARTMENTS Subcellular localization image for C15orf41 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C15orf41 Gene

Pathways for C15orf41 Gene

SuperPathways for C15orf41 Gene

No Data Available

Interacting Proteins for C15orf41 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000401362%0d%0a9606.ENSP00000263382%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000401362 Q9Y2V0-CO041_HUMAN for C15orf41 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for C15orf41 Gene

None

No data available for Pathways by source for C15orf41 Gene

Transcripts for C15orf41 Gene

Unigene Clusters for C15orf41 Gene

Chromosome 15 open reading frame 41:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C15orf41 Gene

No ASD Table

Relevant External Links for C15orf41 Gene

GeneLoc Exon Structure for
C15orf41
ECgene alternative splicing isoforms for
C15orf41

Expression for C15orf41 Gene

mRNA expression in normal human tissues for C15orf41 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C15orf41 Gene

This gene is overexpressed in Heart - Left Ventricle (14.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C15orf41 Gene

SOURCE GeneReport for Unigene cluster for C15orf41 Gene Hs.48348

genes like me logo Genes that share expressions with C15orf41: view

No data available for mRNA Expression by UniProt/SwissProt for C15orf41 Gene

Orthologs for C15orf41 Gene

This gene was present in the common ancestor of animals.

Orthologs for C15orf41 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C15H15orf41 35
  • 99.29 (n)
  • 99.64 (a)
C15orf41 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C10H15orf41 35
  • 93.83 (n)
  • 96.44 (a)
C10H15ORF41 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C15orf41 36
  • 97 (a)
OneToOne
C30H15orf41 35
  • 94.9 (n)
  • 96.8 (a)
mouse
(Mus musculus)
Mammalia BC052040 35
  • 91.58 (n)
  • 95.02 (a)
BC052040 16
BC052040 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C15orf41 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C15orf41 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1563680 35
  • 91.93 (n)
  • 94.66 (a)
chicken
(Gallus gallus)
Aves C5H15ORF41 35
  • 83.33 (n)
  • 82.59 (a)
C5H15ORF41 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C15orf41 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.22285 35
tropical clawed frog
(Silurana tropicalis)
Amphibia c15orf41 35
  • 69.16 (n)
  • 74.77 (a)
Str.12368 35
zebrafish
(Danio rerio)
Actinopterygii C17H15orf41 36
  • 65 (a)
OneToOne
wufb38f07 35
zgc:154061 35
  • 66.18 (n)
  • 61.82 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005605 35
  • 46.69 (n)
  • 39.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12713 35
  • 47.44 (n)
  • 40.66 (a)
CG12713 36
  • 26 (a)
OneToOne
Species with no ortholog for C15orf41:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C15orf41 Gene

ENSEMBL:
Gene Tree for C15orf41 (if available)
TreeFam:
Gene Tree for C15orf41 (if available)

Paralogs for C15orf41 Gene

No data available for Paralogs for C15orf41 Gene

Variants for C15orf41 Gene

Sequence variations from dbSNP and Humsavar for C15orf41 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs386932 -- 36,751,749(-) ggcat(A/T)tgggt intron-variant
rs717315 -- 36,591,995(-) GGCAT(A/G)AAGTG intron-variant
rs717316 -- 36,591,666(-) CCCAA(A/G)CAATG intron-variant
rs723830 -- 36,636,967(+) ATTAC(A/G)TATAG intron-variant
rs723831 -- 36,637,168(+) ACCAA(C/T)GTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C15orf41 Gene

Variant ID Type Subtype PubMed ID
esv2749571 CNV Deletion 23290073
esv2081110 CNV Deletion 18987734
nsv94945 CNV Loss 16902084
esv1000709 CNV Deletion 20482838
esv2749572 CNV Deletion 23290073
esv1525561 CNV Deletion 17803354
esv1643729 CNV Insertion 17803354

Relevant External Links for C15orf41 Gene

HapMap Linkage Disequilibrium report
C15orf41
Human Gene Mutation Database (HGMD)
C15orf41

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C15orf41 Gene

Disorders for C15orf41 Gene

(1) OMIM Diseases for C15orf41 Gene (615626)

UniProtKB/Swiss-Prot

CO041_HUMAN
  • Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. {ECO:0000269 PubMed:23716552}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for C15orf41 Gene

Relevant External Links for C15orf41

Genetic Association Database (GAD)
C15orf41
Human Genome Epidemiology (HuGE) Navigator
C15orf41
genes like me logo Genes that share disorders with C15orf41: view

Publications for C15orf41 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  2. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. (PMID: 23716552) Babbs C. … Buckle V.J. (Haematologica 2013) 3 4
  3. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PMID: 17903299) Kathiresan S. … Cupples L.A. (BMC Med. Genet. 2007) 48
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for C15orf41 Gene

Sources for C15orf41 Gene

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