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Aliases for C15orf41 Gene

Aliases for C15orf41 Gene

  • Chromosome 15 Open Reading Frame 41 2 3 5
  • Uncharacterized Protein C15orf41 3
  • Protein HH114 4
  • HH114 3

External Ids for C15orf41 Gene

Previous GeneCards Identifiers for C15orf41 Gene

  • GC15P034721
  • GC15P036871
  • GC15P013717

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

Regulatory Elements for C15orf41 Gene

Enhancers for C15orf41 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
GH15F036254 0.4 FANTOM5 9.8 -324.7 -324712 0.0 C15orf41 ENSG00000259639 ENSG00000259395
GH15F036585 0.2 ENCODE 7.2 +6.2 6199 0.8 EED FOS EZH2 C15orf41 GC15P036595
GH15F036580 0.6 ENCODE 6.2 -0.1 -70 1.9 ATF1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 BRCA1 ZNF2 C15orf41 GC15P036572
GH15F036589 0.2 ENCODE 5.8 +11.6 11637 2.8 PKNOX1 FEZF1 ZNF2 RAD21 ZNF335 GLIS2 ZNF143 ZNF263 ZNF654 REST C15orf41 GC15P036595
GH15F036605 0.3 FANTOM5 5.4 +26.1 26088 0.4 SCRT1 KLF17 FEZF1 ZNF843 OSR2 SCRT2 PRDM10 PRDM1 WT1 SP7 C15orf41 GC15P036600 LOC751603
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C15orf41 on UCSC Golden Path with GeneCards custom track

Promoters for C15orf41 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001793830 1097 200 CEBPB ZBTB20

Genomic Location for C15orf41 Gene

Chromosome:
15
Start:
36,579,603 bp from pter
End:
36,810,260 bp from pter
Size:
230,658 bases
Orientation:
Plus strand

Genomic View for C15orf41 Gene

Genes around C15orf41 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C15orf41 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C15orf41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for C15orf41 Gene

  • Ubiquitination at Lys 176
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C15orf41 Gene

Domains & Families 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

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

Human Phenotype Ontology for C15orf41 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 & Interactions 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 IID

Gene Ontology (GO) - Biological Process for C15orf41 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C15orf41 Gene

Transcripts for C15orf41 Gene

Unigene Clusters for C15orf41 Gene

Chromosome 15 open reading frame 41:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 (x14.2).

Protein differential expression in normal tissues from HIPED for C15orf41 Gene

This gene is overexpressed in Fetal ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C15orf41 Gene



Protein tissue co-expression partners for C15orf41 Gene

NURSA nuclear receptor signaling pathways regulating expression of C15orf41 Gene:

C15orf41

SOURCE GeneReport for Unigene cluster for C15orf41 Gene:

Hs.48348
genes like me logo Genes that share expression patterns with C15orf41: view

Primer Products

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 C15orf41 35
  • 100 (a)
OneToOne
C15H15orf41 34
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia C15orf41 35
  • 97 (a)
OneToOne
C30H15orf41 34
  • 94.9 (n)
cow
(Bos Taurus)
Mammalia C10H15ORF41 35
  • 96 (a)
OneToOne
C10H15orf41 34
  • 93.83 (n)
rat
(Rattus norvegicus)
Mammalia RGD1563680 34
  • 91.93 (n)
mouse
(Mus musculus)
Mammalia BC052040 34 16 35
  • 91.58 (n)
oppossum
(Monodelphis domestica)
Mammalia C15orf41 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C15orf41 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves C5H15ORF41 34 35
  • 83.33 (n)
lizard
(Anolis carolinensis)
Reptilia C15orf41 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c15orf41 34
  • 69.16 (n)
Str.12368 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.22285 34
zebrafish
(Danio rerio)
Actinopterygii zgc:154061 34
  • 66.18 (n)
C17H15orf41 35
  • 65 (a)
OneToOne
wufb38f07 34
fruit fly
(Drosophila melanogaster)
Insecta CG12713 34 35
  • 47.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005605 34
  • 46.69 (n)
Species where no ortholog for C15orf41 was found in the sources mined by GeneCards:
  • 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
rs587777100 Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631], Pathogenic 36,697,379(+) AAACC(A/T)GTCCT intron-variant, nc-transcript-variant, reference, missense
rs587777101 Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631], Pathogenic 36,657,840(+) GGACT(A/C/G)TGCGC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs139444685 Likely benign 36,692,111(+) CTTTT(C/G)TTATT intron-variant
rs11073191 Benign 36,645,204(+) GTGTT(G/T)TTGTT intron-variant
rs117638434 Benign 36,697,377(+) AAAAA(A/C/T)CTGTC intron-variant, nc-transcript-variant, reference, synonymous-codon, missense

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

Variant ID Type Subtype PubMed ID
esv1000709 CNV deletion 20482838
esv1525561 CNV deletion 17803354
esv1643729 CNV insertion 17803354
esv2081110 CNV deletion 18987734
esv2749571 CNV deletion 23290073
esv2749572 CNV deletion 23290073
esv3361212 CNV insertion 20981092
nsv1051232 CNV gain 25217958
nsv1138355 CNV deletion 24896259
nsv1149671 CNV duplication 26484159
nsv569197 CNV loss 21841781
nsv94945 CNV deletion 16902084
nsv976922 CNV duplication 23825009

Variation tolerance for C15orf41 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.04; 95.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C15orf41 Gene

Human Gene Mutation Database (HGMD)
C15orf41
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C15orf41

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

Disorders for C15orf41 Gene

MalaCards: The human disease database

(5) MalaCards diseases for C15orf41 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyserythropoietic anemia, congenital, type ib
  • congenital dyserythropoietic anemia type ib
dyserythropoietic anemia, congenital, type ia
  • congenital dyserythropoietic anemia type i
congenital dyserythropoietic anemia
  • congenital dyshaematopoietic anaemia
acrodysostosis
  • acrodysplasia
macrocytic anemia
  • anemia macrocytic
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for C15orf41

Genetic Association Database (GAD)
C15orf41
Human Genome Epidemiology (HuGE) Navigator
C15orf41
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C15orf41
genes like me logo Genes that share disorders with C15orf41: view

No data available for Genatlas for C15orf41 Gene

Publications for C15orf41 Gene

  1. 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) 2 3 4 64
  2. 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 64
  3. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64

Products for C15orf41 Gene

Sources for C15orf41 Gene

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