While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009] See more...

Aliases for CFAP47 Gene

Aliases for CFAP47 Gene

  • Cilia And Flagella Associated Protein 47 2 3 5
  • Cilia- And Flagella-Associated Protein 47 3 4
  • CXorf22 3 4
  • CXorf30 3 4
  • CXorf59 3 4
  • CHDC2 3 4
  • Calponin Homology Domain-Containing Protein 2 3
  • Calponin Homology Domain Containing 2 2
  • Chromosome X Open Reading Frame 59 2
  • Chromosome X Open Reading Frame 22 2
  • Chromosome X Open Reading Frame 30 2

External Ids for CFAP47 Gene

Previous HGNC Symbols for CFAP47 Gene

  • CXorf59
  • CXorf22
  • CXorf30
  • CHDC2

Previous GeneCards Identifiers for CFAP47 Gene

  • GC0XP036046

Summaries for CFAP47 Gene

Entrez Gene Summary for CFAP47 Gene

  • While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]

GeneCards Summary for CFAP47 Gene

CFAP47 (Cilia And Flagella Associated Protein 47) is a Protein Coding gene. Diseases associated with CFAP47 include Impaired Renal Function Disease and Dyscalculia. An important paralog of this gene is HYDIN.

Additional gene information for CFAP47 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP47 Gene

Genomics for CFAP47 Gene

GeneHancer (GH) Regulatory Elements for CFAP47 Gene

Promoters and enhancers for CFAP47 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ035919 Promoter 1 EPDnew Ensembl 500.7 +0.1 67 1.2 SAP30 RFX1 FOXA2 MXI1 CHD2 BMI1 CFAP47 piR-41405-163
GH0XJ035890 Promoter 0.8 EPDnew 500.3 -28.9 -28851 0.1 CTCF RAD21 TRIM22 ZNF316 MAFF GABPA MAFK NFE2 ELF1 MYC CFAP47 RF00017-8292 lnc-CFAP47-2 ENSG00000271519
GH0XJ036198 Enhancer 0.5 Ensembl ENCODE 0.1 +278.8 278834 0.7 SP1 NANOG HMGB1P16 lnc-MAGEB16-4 piR-57176-683 CFAP47
GH0XJ036215 Enhancer 0.4 Ensembl 0.1 +295.8 295767 1 CREB1 GATA3 ATF2 JUND ATF7 HMGB1P16 lnc-MAGEB16-4 piR-33605-507 CFAP47
GH0XJ036218 Enhancer 0.2 Ensembl 0.1 +298.8 298767 0.2 HMGB1P16 lnc-MAGEB16-4 piR-33605-507 CFAP47
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP47 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP47

Genomic Locations for CFAP47 Gene

Genomic Locations for CFAP47 Gene
chrX:35,919,734-36,385,319
(GRCh38/hg38)
Size:
465,586 bases
Orientation:
Plus strand
chrX:35,937,851-36,008,269
(GRCh37/hg19)
Size:
70,419 bases
Orientation:
Plus strand

Genomic View for CFAP47 Gene

Genes around CFAP47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP47 Gene

Proteins for CFAP47 Gene

  • Protein details for CFAP47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZTR5-CFA47_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 47
    Protein Accession:
    Q6ZTR5
    Secondary Accessions:
    • A0A140T8X2
    • A6PW82
    • B1ARL5
    • Q5JRM8
    • Q8N6X8
    • Q8N9S7

    Protein attributes for CFAP47 Gene

    Size:
    3187 amino acids
    Molecular mass:
    361625 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI01699.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI01701.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC04251.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP47 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP47 Gene

Post-translational modifications for CFAP47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP47 Gene

No data available for DME Specific Peptides for CFAP47 Gene

Domains & Families for CFAP47 Gene

Gene Families for CFAP47 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CFAP47 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP47 Gene

GenScript: Design optimal peptide antigens:
  • Chromosome X open reading frame 30 (B1ARL5_HUMAN)
genes like me logo Genes that share domains with CFAP47: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CFAP47 Gene

Function for CFAP47 Gene

genes like me logo Genes that share phenotypes with CFAP47: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP47

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP47 Gene

Localization for CFAP47 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 CFAP47 gene
Compartment Confidence
mitochondrion 2
cytosol 1

Gene Ontology (GO) - Cellular Components for CFAP47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CFAP47: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CFAP47 Gene

Pathways & Interactions for CFAP47 Gene

PathCards logo

SuperPathways for CFAP47 Gene

No Data Available

Interacting Proteins for CFAP47 Gene

;

Gene Ontology (GO) - Biological Process for CFAP47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP47 Gene

Drugs & Compounds for CFAP47 Gene

No Compound Related Data Available

Transcripts for CFAP47 Gene

mRNA/cDNA for CFAP47 Gene

3 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
7 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 CFAP47

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP47 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1:
SP2: -

Relevant External Links for CFAP47 Gene

GeneLoc Exon Structure for
CFAP47

Expression for CFAP47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFAP47 Gene

Protein differential expression in normal tissues from HIPED for CFAP47 Gene

This gene is overexpressed in Amniocyte (61.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP47 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP47

genes like me logo Genes that share expression patterns with CFAP47: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP47 Gene

Orthologs for CFAP47 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CXorf22 31
  • 97 (a)
OneToOne
CHDC2 30
  • 95.67 (n)
rat
(Rattus norvegicus)
Mammalia LOC680813 30
  • 78.75 (n)
dog
(Canis familiaris)
Mammalia CXorf22 31
  • 71 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CXorf22 31
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm7173 31
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CXorf22 31
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CXorf22 31
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves CXorf22 31
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CXorf22 31
  • 47 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToOne
Species where no ortholog for CFAP47 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CFAP47 Gene

ENSEMBL:
Gene Tree for CFAP47 (if available)
TreeFam:
Gene Tree for CFAP47 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP47: view image

Paralogs for CFAP47 Gene

Paralogs for CFAP47 Gene

genes like me logo Genes that share paralogs with CFAP47: view

Variants for CFAP47 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP47 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs782477064 Uncertain Significance: Abnormality of neuronal migration 36,310,956(+) A/G MISSENSE_VARIANT
rs11795910 - p.Ala561Thr
rs17852470 - p.His634Tyr
rs2336029 - p.Val236Met
rs6632427 - p.Cys345Arg

Additional dbSNP identifiers (rs#s) for CFAP47 Gene

Structural Variations from Database of Genomic Variants (DGV) for CFAP47 Gene

Variant ID Type Subtype PubMed ID
esv1035775 CNV insertion 17803354
esv2740088 CNV deletion 23290073
esv3304487 CNV mobile element insertion 20981092
esv3432080 CNV insertion 20981092
nsv1077581 CNV duplication 25765185
nsv470349 CNV gain 18288195
nsv470349 CNV gain 18288195
nsv470349 CNV gain 18288195
nsv516150 CNV gain 19592680
nsv516150 CNV gain 19592680

Additional Variant Information for CFAP47 Gene

Human Gene Mutation Database (HGMD)
CFAP47
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CFAP47 Gene

Disorders for CFAP47 Gene

MalaCards: The human disease database

(50) MalaCards diseases for CFAP47 Gene - From: DISEASES

Disorder Aliases PubMed IDs
impaired renal function disease
dyscalculia
  • disorder of arithmetical skills
synovium cancer
  • malignant tumor of synovium
atrial septal defect 9
  • asd9
barber-say syndrome
  • bbrsay
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CFAP47

genes like me logo Genes that share disorders with CFAP47: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP47 Gene

Publications for CFAP47 Gene

  1. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 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. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for CFAP47 Gene

Sources for CFAP47 Gene