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Aliases for CFAP299 Gene

Aliases for CFAP299 Gene

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

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.

Additional gene information for CFAP299 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP299 Gene

Genomics for CFAP299 Gene

GeneHancer (GH) Regulatory Elements for CFAP299 Gene

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 650.7 +0.4 438 1.3 PKNOX1 ATF1 ARID4B SIN3A DMAP1 GLIS2 E2F8 ZNF143 ATF7 SP3 CFAP299 LOC100419739 FGF5
GH04J080304 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.9 -27.8 -27786 5.6 PKNOX1 ARNT FEZF1 ZNF2 YY1 ZNF213 KLF7 FOS SP3 REST LOC100419739 CFAP299 LOC101928942 MRPS25P1 FGF5
GH04J080292 Enhancer 0.4 dbSUPER 22.8 -39.9 -39907 6.6 ZFHX2 POLR2A SCRT2 CFAP299 FGF5 BMP3 MRPS25P1
GH04J080492 Enhancer 0.5 ENCODE 11.1 +157.6 157563 1.3 CTBP1 SOX6 ZEB2 ZBTB40 GABPA LOC105377305 CFAP299 GC04P080582
GH04J080321 Enhancer 0.5 dbSUPER 11.1 -12.5 -12530 2 CTCF ZNF654 ZNF680 REST FOS ZNF600 RAD21 MRPS25P1 CFAP299 FGF5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP299 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP299 Gene

Genomic Locations for CFAP299 Gene
chr4:80,335,326-80,963,756
(GRCh38/hg38)
Size:
628,431 bases
Orientation:
Plus strand
chr4:81,256,874-81,884,910
(GRCh37/hg19)

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-CD022_HUMAN
    Recommended name:
    Uncharacterized protein C4orf22
    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

    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:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CFAP299 Gene

Function for CFAP299 Gene

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>

Clone Products

No data available for Molecular function , 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

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 3
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CFAP299 Gene

Pathways & Interactions for CFAP299 Gene

SuperPathways for CFAP299 Gene

No Data Available

Interacting Proteins for CFAP299 Gene

Selected Interacting proteins: Q6V702-CD022_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

Clone Products

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

No ASD Table

Relevant External Links for CFAP299 Gene

GeneLoc Exon Structure for
CFAP299
ECgene alternative splicing isoforms for
CFAP299

Expression for CFAP299 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CFAP299 Gene:

CFAP299
genes like me logo Genes that share expression patterns with CFAP299: view

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 , Evidence on tissue expression from TISSUES 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 33
  • 99.2 (n)
C4orf22 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C6H4orf22 33
  • 88.89 (n)
C4orf22 34
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C32H4orf22 33
  • 88.67 (n)
C4orf22 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700007G11Rik 34 33
  • 83.83 (n)
OneToOne
Cfap299 16
oppossum
(Monodelphis domestica)
Mammalia C4orf22 34
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC685158 33
  • 74.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C4orf22 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C4orf22 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498045 33
  • 70.98 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-57h10.1 33
  • 63.62 (n)
C5H4orf22 34
  • 49 (a)
OneToOne
Dr.12493 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.274 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006170 33
  • 45.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8138 34
  • 30 (a)
OneToMany
CG3528 34
  • 28 (a)
OneToMany
CG14017 34
  • 28 (a)
OneToMany
CG14013 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 63 (a)
OneToOne
Cin.8131 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8131 33
Species where no ortholog for CFAP299 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 from dbSNP and Humsavar for CFAP299 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000004217 -- 80,381,752(+) C/G genic_upstream_transcript_variant, intron_variant
rs10000078 -- 80,733,827(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000012730 -- 80,760,740(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000017836 -- 80,620,711(+) C/T intron_variant
rs1000024320 -- 80,920,016(+) A/C genic_downstream_transcript_variant, intron_variant

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 , Genatlas and External Links for CFAP299 Gene

Publications for CFAP299 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  2. 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 58
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58
  4. 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 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 58

Products for CFAP299 Gene

Sources for CFAP299 Gene

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