Aliases for CFAP299 Gene

Aliases for CFAP299 Gene

  • Cilia And Flagella Associated Protein 299 2 3 5
  • Cilia- And Flagella-Associated Protein 299 3 4
  • C4orf22 3 4
  • Chromosome 4 Open Reading Frame 22 2
  • Uncharacterized Protein C4orf22 3
  • CFAP299 5

External Ids for CFAP299 Gene

Previous HGNC Symbols for CFAP299 Gene

  • C4orf22

Summaries for CFAP299 Gene

GeneCards Summary for CFAP299 Gene

CFAP299 (Cilia And Flagella Associated Protein 299) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for CFAP299 Gene

Additional gene information for CFAP299 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP299 Gene

Genomics for CFAP299 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFAP299 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
GH04J080335 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 610.6 +14.7 14699 1.7 CTCF PRDM10 REST RFX1 JUND DDX20 PKNOX1 SP1 ZNF501 EZH2 CFAP299 MRPS25P1 ENSG00000232327 lnc-ANTXR2-5 FGF5 BMP3
GH04J080321 Enhancer 0.4 Ensembl dbSUPER 600.7 +1.2 1236 0.2 CTCF CFAP299 MRPS25P1 FGF5 lnc-ANTXR2-5 ENSG00000232327 BMP3
GH04J080304 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -13.7 -13703 5.7 PRDM10 ZNF629 ZNF692 ZNF174 PRDM1 ZIC2 ZSCAN4 POLR2A PATZ1 ZNF501 CFAP299 piR-31470-372 FGF5
GH04J080507 Enhancer 0.7 Ensembl 14.1 +186.3 186336 1.2 PKNOX1 REST IKZF2 DPF2 SOX6 TCF12 EP300 EGR1 ZBTB11 TRIM24 CFAP299 LOC105377305 HSALNG0035468 BMP3
GH04J080492 Enhancer 0.7 Ensembl ENCODE 13 +172.8 172835 5.4 SOX6 CTBP1 HES1 GABPA RUNX1 NFIC FOXM1 ZEB2 NANOG ZBTB40 LOC105377305 CFAP299 HSALNG0035468 BMP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP299 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP299

Genomic Locations for CFAP299 Gene

Genomic Locations for CFAP299 Gene
chr4:80,321,265-80,963,756
(GRCh38/hg38)
Size:
642,492 bases
Orientation:
Plus strand
chr4:81,256,874-81,884,910
(GRCh37/hg19)
Size:
628,037 bases
Orientation:
Plus strand

Genomic View for CFAP299 Gene

Genes around CFAP299 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP299 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP299 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP299 Gene

Proteins for CFAP299 Gene

  • Protein details for CFAP299 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6V702-CF299_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 299
    Protein Accession:
    Q6V702
    Secondary Accessions:
    • E7EQ13
    • Q6ZQY4
    • Q8N4G9

    Protein attributes for CFAP299 Gene

    Size:
    233 amino acids
    Molecular mass:
    26869 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for CFAP299 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP299 Gene

Post-translational modifications for CFAP299 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP299 Gene

Domains & Families for CFAP299 Gene

Gene Families for CFAP299 Gene

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

Protein Domains for CFAP299 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with CFAP299: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CFAP299 Gene

Function for CFAP299 Gene

Molecular function for CFAP299 Gene

UniProtKB/Swiss-Prot Function:
May be involved in spermatogenesis.

Phenotypes From GWAS Catalog for CFAP299 Gene

genes like me logo Genes that share phenotypes with CFAP299: view

Animal Models for CFAP299 Gene

MGI Knock Outs for CFAP299:
  • Cfap299 Cfap299<tm1b(EUCOMM)Wtsi>

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP299 Gene

Localization for CFAP299 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP299 Gene

Cytoplasm. Nucleus. Note=Mainly cytoplasmic. {ECO:0000250 UniProtKB:Q810M1}.

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 CFAP299 gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 2
extracellular 0
cytoskeleton 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFAP299 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with CFAP299: view

Pathways & Interactions for CFAP299 Gene

PathCards logo

SuperPathways for CFAP299 Gene

No Data Available

Interacting Proteins for CFAP299 Gene

Selected Interacting proteins: Q6V702-CF299_HUMAN for CFAP299 Gene via IID

Symbol External ID(s) Details
APP
BAG3

Gene Ontology (GO) - Biological Process for CFAP299 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP299 Gene

Drugs & Compounds for CFAP299 Gene

No Compound Related Data Available

Transcripts for CFAP299 Gene

mRNA/cDNA for CFAP299 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP299 Gene

No ASD Table

Relevant External Links for CFAP299 Gene

GeneLoc Exon Structure for
CFAP299

Expression for CFAP299 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP299

Evidence on tissue expression from TISSUES for CFAP299 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CFAP299: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP299 Gene

Orthologs for CFAP299 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP299 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C4H4orf22 30
  • 99.2 (n)
C4orf22 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C6H4orf22 30
  • 88.89 (n)
C4orf22 31
  • 87 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C32H4orf22 30
  • 88.67 (n)
C4orf22 31
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 1700007G11Rik 30 31
  • 83.83 (n)
OneToOne
Cfap299 17
Oppossum
(Monodelphis domestica)
Mammalia C4orf22 31
  • 75 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC685158 30
  • 74.64 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia C4orf22 31
  • 69 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C4orf22 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100498045 30
  • 70.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-57h10.1 30
  • 63.62 (n)
C5H4orf22 31
  • 49 (a)
OneToOne
Dr.12493 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.274 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006170 30
  • 45.83 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG8138 31
  • 30 (a)
OneToMany
CG3528 31
  • 28 (a)
OneToMany
CG14017 31
  • 28 (a)
OneToMany
CG14013 31
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 63 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8131 30
Species where no ortholog for CFAP299 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • 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 CFAP299 Gene

ENSEMBL:
Gene Tree for CFAP299 (if available)
TreeFam:
Gene Tree for CFAP299 (if available)

Paralogs for CFAP299 Gene

No data available for Paralogs for CFAP299 Gene

Variants for CFAP299 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP299 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs1052325 - p.Val220Ile
rs11947742 - p.Thr138Met

Additional dbSNP identifiers (rs#s) for CFAP299 Gene

Structural Variations from Database of Genomic Variants (DGV) for CFAP299 Gene

Variant ID Type Subtype PubMed ID
dgv155n6 CNV deletion 16902084
dgv2834n106 CNV deletion 24896259
dgv2835n106 CNV deletion 24896259
dgv2836n106 CNV deletion 24896259
esv1003054 CNV deletion 20482838
esv1761835 CNV deletion 17803354
esv1772075 CNV deletion 17803354
esv2012478 CNV deletion 18987734
esv22804 CNV loss 19812545
esv2287638 CNV deletion 18987734
esv2437571 CNV deletion 19546169
esv2458804 CNV deletion 19546169
esv2557088 CNV deletion 19546169
esv2659472 CNV deletion 23128226
esv2660580 CNV deletion 23128226
esv2661892 CNV deletion 23128226
esv2668568 CNV deletion 23128226
esv2727868 CNV deletion 23290073
esv2727869 CNV deletion 23290073
esv2727870 CNV deletion 23290073
esv2727871 CNV deletion 23290073
esv2727872 CNV deletion 23290073
esv2763370 CNV gain 21179565
esv29813 CNV loss 19812545
esv3564134 CNV deletion 23714750
esv3564135 CNV deletion 23714750
esv3564136 CNV deletion 23714750
esv3564138 CNV deletion 23714750
esv3569534 CNV loss 25503493
esv3569535 CNV loss 25503493
esv3575755 CNV gain 25503493
esv3601136 CNV loss 21293372
esv3601138 CNV loss 21293372
esv3601139 CNV loss 21293372
esv3601140 CNV gain 21293372
esv3601141 CNV gain 21293372
esv3601142 CNV loss 21293372
esv3601143 CNV gain 21293372
esv3707 CNV loss 18987735
esv3893966 CNV loss 25118596
esv4973 CNV loss 18987735
esv8483 CNV loss 19470904
esv996118 CNV deletion 20482838
nsv1013945 CNV loss 25217958
nsv1073346 CNV deletion 25765185
nsv1073347 CNV deletion 25765185
nsv1114548 CNV deletion 24896259
nsv1121628 CNV deletion 24896259
nsv1125818 CNV tandem duplication 24896259
nsv1139275 CNV deletion 24896259
nsv1141810 CNV insertion 24896259
nsv1143098 CNV tandem duplication 24896259
nsv1145996 CNV insertion 26484159
nsv1147567 CNV deletion 26484159
nsv293578 CNV deletion 16902084
nsv4401 CNV insertion 18451855
nsv472244 CNV novel sequence insertion 20440878
nsv517072 CNV loss 19592680
nsv517603 CNV loss 19592680
nsv525865 CNV loss 19592680
nsv528410 CNV loss 19592680
nsv955663 CNV deletion 24416366
nsv955669 CNV deletion 24416366

Variation tolerance for CFAP299 Gene

Residual Variation Intolerance Score: 77.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP299 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP299

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP299 Gene

Disorders for CFAP299 Gene

No disorders were found for CFAP299 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP299 Gene

Publications for CFAP299 Gene

  1. Cloning of a new testis-enriched gene C4orf22 and its role in cell cycle and apoptosis in mouse spermatogenic cells. (PMID: 30820741) Li H … Nie D (Molecular biology reports 2019) 2 3
  2. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. (PMID: 27433848) Malik S … Nakanishi A (Cell cycle (Georgetown, Tex.) 2016) 3
  3. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PMID: 23824909) Chen Y … Ge F (Molecular & cellular proteomics : MCP 2013) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3

Products for CFAP299 Gene

Sources for CFAP299 Gene