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Aliases for C9orf24 Gene

Aliases for C9orf24 Gene

  • Chromosome 9 Open Reading Frame 24 2 3 5
  • Spermatid-Specific Manchette-Related Protein 1 2 3
  • Ciliated Bronchial Epithelial Protein 1 3 4
  • Testis Development Protein NYD-SP22 3 4
  • Ciliated Bronchial Epithelium 1 2 3
  • SMRP1 3 4
  • CBE1 3 4
  • BA573M23.4 3
  • NYD-SP22 3

External Ids for C9orf24 Gene

Previous GeneCards Identifiers for C9orf24 Gene

  • GC09M034548
  • GC09M034369

Summaries for C9orf24 Gene

Entrez Gene Summary for C9orf24 Gene

  • This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for C9orf24 Gene

C9orf24 (Chromosome 9 Open Reading Frame 24) is a Protein Coding gene. GO annotations related to this gene include alpha-tubulin binding.

UniProtKB/Swiss-Prot for C9orf24 Gene

  • May play a role in spermatogenesis (By similarity). May be involved in differentiation or function of ciliated cells.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf24 Gene

Genomics for C9orf24 Gene

Regulatory Elements for C9orf24 Gene

Enhancers for C9orf24 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
GH09G034341 1.2 Ensembl ENCODE dbSUPER 11.8 +54.8 54751 5.0 NFIA CEBPG ZIC2 NR2F2 YY1 OSR2 JUND ATF3 HNF4A SMAD4 NUDT2 KIAA1161 C9orf24 RNU2-50P FAM219A DNAI1 IMPDH1P1 DCAF12 ENSG00000230729 RPP25L
GH09G034333 1 ENCODE dbSUPER 12.1 +64.0 64017 1.4 SOX13 SAP130 ARID4B ZNF644 ZNF652 THAP11 SOX5 GATAD2A HMG20B KLF11 NUDT2 KIAA1161 C9orf24 CNTFR UBAP1 GC09P034356
GH09G034346 0.9 ENCODE dbSUPER 11.8 +51.1 51149 1.2 SCRT1 MAX ZNF384 ZNF48 NR2F2 YY1 JUND ATF3 SCRT2 HNF4G KIAA1161 C9orf24 RNU2-50P DNAI1 FAM219A IMPDH1P1 DCAF12 ENSG00000230729 RPP25L KIF24
GH09G034332 0.8 ENCODE 12.1 +66.0 66030 0.2 CTCF PKNOX1 SAP130 ARID4B RAD21 TEAD3 ZNF316 GATAD1 SMC3 NFE2 KIAA1161 C9orf24 CNTFR NUDT2 GC09P034356
GH09G034372 0.6 ENCODE 12.3 +25.7 25662 1.0 CTCF ZNF687 ZBTB33 DPF2 EZH2 RBFOX2 NUDT2 C9orf24 RNU2-50P DNAI1 FAM219A RPP25L KIF24 UBAP1 KIAA1161
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf24 on UCSC Golden Path with GeneCards custom track

Genomic Location for C9orf24 Gene

Chromosome:
9
Start:
34,379,019 bp from pter
End:
34,398,577 bp from pter
Size:
19,559 bases
Orientation:
Minus strand

Genomic View for C9orf24 Gene

Genes around C9orf24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf24 Gene

Proteins for C9orf24 Gene

  • Protein details for C9orf24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCR6-SMRP1_HUMAN
    Recommended name:
    Spermatid-specific manchette-related protein 1
    Protein Accession:
    Q8NCR6
    Secondary Accessions:
    • Q5T598
    • Q5T599
    • Q5T5A0
    • Q8N9G4
    • Q96KD1
    • Q96LN1

    Protein attributes for C9orf24 Gene

    Size:
    262 amino acids
    Molecular mass:
    30167 Da
    Quaternary structure:
    • Interacts with alpha-tubulin.

    Alternative splice isoforms for C9orf24 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf24 Gene

Post-translational modifications for C9orf24 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C9orf24 Gene

Domains & Families for C9orf24 Gene

Protein Domains for C9orf24 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C9orf24 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NCR6

UniProtKB/Swiss-Prot:

SMRP1_HUMAN :
  • Belongs to the SMRP1 family.
Family:
  • Belongs to the SMRP1 family.
genes like me logo Genes that share domains with C9orf24: view

No data available for Gene Families for C9orf24 Gene

Function for C9orf24 Gene

Molecular function for C9orf24 Gene

UniProtKB/Swiss-Prot Function:
May play a role in spermatogenesis (By similarity). May be involved in differentiation or function of ciliated cells.
UniProtKB/Swiss-Prot Induction:
Down-regulated by IL13.

Gene Ontology (GO) - Molecular Function for C9orf24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0043014 alpha-tubulin binding IEA --
genes like me logo Genes that share ontologies with C9orf24: view

Phenotypes for C9orf24 Gene

genes like me logo Genes that share phenotypes with C9orf24: view

Animal Model Products

CRISPR Products

miRNA for C9orf24 Gene

miRTarBase miRNAs that target C9orf24

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf24 Gene

Localization for C9orf24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf24 Gene

Cytoplasm, cytoskeleton. Nucleus. Cytoplasm. Note=Localizes to the manchette in elongating spermatids (By similarity). Predominantly perinuclear in bronchial epithelial cells but also detected in the nucleus in some primary epithelial cells and in a number of cell lines. {ECO:0000250}.

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 C9orf24 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
extracellular 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for C9orf24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002177 manchette ISS --
GO:0005634 nucleus IDA,IEA 15242845
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0048471 perinuclear region of cytoplasm IDA 15242845
genes like me logo Genes that share ontologies with C9orf24: view

Pathways & Interactions for C9orf24 Gene

SuperPathways for C9orf24 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C9orf24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0043623 cellular protein complex assembly IEA --
genes like me logo Genes that share ontologies with C9orf24: view

No data available for Pathways by source and SIGNOR curated interactions for C9orf24 Gene

Drugs & Compounds for C9orf24 Gene

No Compound Related Data Available

Transcripts for C9orf24 Gene

Unigene Clusters for C9orf24 Gene

Chromosome 9 open reading frame 24:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf24 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b
SP1: - - - -
SP2: -
SP3: -
SP4: - -
SP5:

Relevant External Links for C9orf24 Gene

GeneLoc Exon Structure for
C9orf24
ECgene alternative splicing isoforms for
C9orf24

Expression for C9orf24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf24 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C9orf24 Gene

This gene is overexpressed in Testis (x12.2), Brain - Caudate (basal ganglia) (x4.1), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for C9orf24 Gene

This gene is overexpressed in Testis (54.9) and Ovary (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C9orf24 Gene



Protein tissue co-expression partners for C9orf24 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C9orf24 Gene:

C9orf24

SOURCE GeneReport for Unigene cluster for C9orf24 Gene:

Hs.50334

mRNA Expression by UniProt/SwissProt for C9orf24 Gene:

Q8NCR6-SMRP1_HUMAN
Tissue specificity: Expressed in epithelial cells of nasal polyps and in intact epithelium of bronchial biopsies from subjects with and without asthma. Strong expression in columnar cells with little or no expression in basal epithelial cells along the basement membrane. Strongly expressed in ciliated epithelial cells with lower levels in goblet cells (at protein level).

Evidence on tissue expression from TISSUES for C9orf24 Gene

  • Nervous system(4.4)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with C9orf24: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf24 Gene

Orthologs for C9orf24 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9orf24 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf24 34
  • 99.62 (n)
C9orf24 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1110017D15Rik 34 16 35
  • 83.12 (n)
cow
(Bos Taurus)
Mammalia C8H9orf24 34
  • 82.41 (n)
SMRP1 35
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C11H9orf24 34
  • 82.15 (n)
C9orf24 35
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1561916 34
  • 80.91 (n)
oppossum
(Monodelphis domestica)
Mammalia C9orf24 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf24 35
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves C9ORF24 34
  • 59.06 (n)
C9orf24 35
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C9orf24 35
  • 44 (a)
OneToOne
Species where no ortholog for C9orf24 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 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 C9orf24 Gene

ENSEMBL:
Gene Tree for C9orf24 (if available)
TreeFam:
Gene Tree for C9orf24 (if available)

Paralogs for C9orf24 Gene

(1) SIMAP similar genes for C9orf24 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with C9orf24: view

No data available for Paralogs for C9orf24 Gene

Variants for C9orf24 Gene

Sequence variations from dbSNP and Humsavar for C9orf24 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000111534 -- 34,387,139(+) CCTCC(C/T)GCCTC intron-variant
rs1000273298 -- 34,380,018(+) ATCCC(C/T)GCCAC intron-variant
rs1000415643 -- 34,386,747(+) CCTGG(A/G)CCCCT intron-variant
rs1000451584 -- 34,390,486(+) TTCTG(-/T)TTTTT intron-variant
rs1000616711 -- 34,383,510(+) CAGAT(C/T)AAGAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C9orf24 Gene

Variant ID Type Subtype PubMed ID
esv3620335 CNV gain 21293372
esv3620357 CNV loss 21293372
nsv1015595 CNV gain 25217958
nsv1016251 CNV gain 25217958
nsv1028418 CNV gain 25217958
nsv1125318 OTHER inversion 24896259
nsv474954 CNV novel sequence insertion 20440878
nsv831542 CNV gain 17160897

Variation tolerance for C9orf24 Gene

Residual Variation Intolerance Score: 79.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf24 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf24 Gene

Disorders for C9orf24 Gene

Relevant External Links for C9orf24

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf24

No disorders were found for C9orf24 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf24 Gene

Publications for C9orf24 Gene

  1. Chronological expression of Ciliated Bronchial Epithelium 1 during pulmonary development. (PMID: 19213785) Haitchi H.M. … Davies D.E. (Eur. Respir. J. 2009) 3 4 22 64
  2. Characterization of ciliated bronchial epithelium 1, a ciliated cell- associated gene induced during mucociliary differentiation. (PMID: 15242845) Yoshisue H. … Holloway J.W. (Am. J. Respir. Cell Mol. Biol. 2004) 2 3 4 64
  3. Isolation and characterization of the spermatid-specific Smrp1 gene encoding a novel manchette protein. (PMID: 18163442) Matsuoka Y. … Tanaka H. (Mol. Reprod. Dev. 2008) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Identification of testis development and spermatogenesis-related genes in human and mouse testes using cDNA arrays. (PMID: 12029067) Sha J. … Zhou K. (Mol. Hum. Reprod. 2002) 2 3 64

Products for C9orf24 Gene

Sources for C9orf24 Gene

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