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Aliases for CFAP36 Gene

Aliases for CFAP36 Gene

  • Cilia And Flagella Associated Protein 36 2 3 5
  • Coiled-Coil Domain-Containing Protein 104 3 4
  • Coiled-Coil Domain Containing 104 2 3
  • CCDC104 3 4
  • Cilia- And Flagella-Associated Protein 36 3
  • BARTL1 3

External Ids for CFAP36 Gene

Previous HGNC Symbols for CFAP36 Gene

  • CCDC104

Summaries for CFAP36 Gene

GeneCards Summary for CFAP36 Gene

CFAP36 (Cilia And Flagella Associated Protein 36) is a Protein Coding gene.

UniProtKB/Swiss-Prot for CFAP36 Gene

  • May act as an effector for ARL3.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP36 Gene

Genomics for CFAP36 Gene

Regulatory Elements for CFAP36 Gene

Enhancers for CFAP36 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
GH02G055841 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +323.1 323107 3.4 PKNOX1 FOXA2 ATF1 SIN3A FEZF1 ZNF2 ZNF302 GATA2 FOS KLF7 LOC100128027 CFAP36 EFEMP1 ENSG00000240401 GC02P055762
GH02G055614 1.4 ENCODE dbSUPER 10.2 +97.7 97743 5.0 MLX CREB3L1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC LOC100128027 RPS27A CFAP36 ENSG00000272606 PNPT1 PRORSD1P PPP4R3B CLHC1 GC02P055601
GH02G055417 1.4 ENCODE dbSUPER 10.1 -100.5 -100467 3.7 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC CCDC88A CFAP36 CLHC1 PIR31107 GC02P055419 GC02M055419
GH02G054676 0.8 dbSUPER 10.1 -842.7 -842654 1.2 KLF17 INSM2 GATA2 ZNF366 FOS ZHX1 DEK ZEB2 ZNF398 REST EML6 LOC100128027 CFAP36 ENSG00000238018 LOC105374653
GH02G055555 0.5 ENCODE 11 +36.6 36614 1.7 PRDM6 ZNF366 PBX2 CEBPB PRDM1 PRORSD1P CFAP36 CCDC88A RNU6-634P ENSG00000212175
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFAP36 on UCSC Golden Path with GeneCards custom track

Promoters for CFAP36 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117358 106 2200 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 FOS

Genomic Location for CFAP36 Gene

Chromosome:
2
Start:
55,519,595 bp from pter
End:
55,545,879 bp from pter
Size:
26,285 bases
Orientation:
Plus strand

Genomic View for CFAP36 Gene

Genes around CFAP36 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP36 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP36 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP36 Gene

Proteins for CFAP36 Gene

  • Protein details for CFAP36 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96G28-CFA36_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 36
    Protein Accession:
    Q96G28
    Secondary Accessions:
    • Q53SF0
    • Q53ST9
    • Q6UY34

    Protein attributes for CFAP36 Gene

    Size:
    342 amino acids
    Molecular mass:
    39447 Da
    Quaternary structure:
    • Interacts with ARL3.

    Alternative splice isoforms for CFAP36 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP36 Gene

Post-translational modifications for CFAP36 Gene

  • Ubiquitination at Lys63, posLast=7070, Lys89, Lys110, Lys116, posLast=155155, Lys282, Lys293, posLast=303303, posLast=334334, and posLast=336336
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CFAP36 Gene

Domains & Families for CFAP36 Gene

Protein Domains for CFAP36 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP36 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96G28

UniProtKB/Swiss-Prot:

CFA36_HUMAN :
  • Belongs to the CFAP36 family.
Family:
  • Belongs to the CFAP36 family.
genes like me logo Genes that share domains with CFAP36: view

No data available for Gene Families for CFAP36 Gene

Function for CFAP36 Gene

Molecular function for CFAP36 Gene

UniProtKB/Swiss-Prot Function:
May act as an effector for ARL3.
genes like me logo Genes that share phenotypes with CFAP36: view

Animal Models for CFAP36 Gene

MGI Knock Outs for CFAP36:

Animal Model Products

CRISPR Products

miRNA for CFAP36 Gene

miRTarBase miRNAs that target CFAP36

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CFAP36 Gene

Localization for CFAP36 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP36 Gene

Nucleus. Cytoplasm. Cell projection, cilium, flagellum.

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 CFAP36 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for CFAP36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP36: view

Pathways & Interactions for CFAP36 Gene

SuperPathways for CFAP36 Gene

No Data Available

Interacting Proteins for CFAP36 Gene

Gene Ontology (GO) - Biological Process for CFAP36 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP36 Gene

Drugs & Compounds for CFAP36 Gene

No Compound Related Data Available

Transcripts for CFAP36 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP36 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12
SP1: - - - -
SP2: - - - - -
SP3: -
SP4: - - -
SP5: -
SP6: - - -

Relevant External Links for CFAP36 Gene

GeneLoc Exon Structure for
CFAP36
ECgene alternative splicing isoforms for
CFAP36

Expression for CFAP36 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP36 Gene

Protein differential expression in normal tissues from HIPED for CFAP36 Gene

This gene is overexpressed in Testis (10.8), Fetal Brain (8.7), Ovary (8.2), Gallbladder (7.2), CD8 Tcells (6.5), and Fetal ovary (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CFAP36 Gene



Protein tissue co-expression partners for CFAP36 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CFAP36 Gene:

CFAP36

mRNA Expression by UniProt/SwissProt for CFAP36 Gene:

Q96G28-CFA36_HUMAN
Tissue specificity: Expressed in several human tissues including brain, testis, heart, lung, pancreas and spleen (at protein level).

Evidence on tissue expression from TISSUES for CFAP36 Gene

  • Nervous system(3.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with CFAP36: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP36 Gene

Orthologs for CFAP36 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP36 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC104 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia CCDC104 34 35
  • 93.7 (n)
cow
(Bos Taurus)
Mammalia CCDC104 34 35
  • 91.91 (n)
mouse
(Mus musculus)
Mammalia Ccdc104 34 35
  • 88.5 (n)
Cfap36 16
rat
(Rattus norvegicus)
Mammalia Ccdc104 34
  • 87.33 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC104 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC104 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC104 34 35
  • 66.25 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC104 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc104 34
  • 61.72 (n)
MGC76095 34
African clawed frog
(Xenopus laevis)
Amphibia mgc15407-prov 34
zebrafish
(Danio rerio)
Actinopterygii ccdc104 34 35
  • 52.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14367 35
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y108G3AL.3 35
  • 12 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2835 35
  • 17 (a)
OneToOne
Species where no ortholog for CFAP36 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CFAP36 Gene

ENSEMBL:
Gene Tree for CFAP36 (if available)
TreeFam:
Gene Tree for CFAP36 (if available)

Paralogs for CFAP36 Gene

No data available for Paralogs for CFAP36 Gene

Variants for CFAP36 Gene

Sequence variations from dbSNP and Humsavar for CFAP36 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000056935 -- 55,536,470(+) TTTTT(G/T)GAGAC intron-variant
rs1000079986 -- 55,521,589(+) AATAG(-/TA)TATAT intron-variant
rs1000121024 -- 55,539,042(+) GTACA(C/T)GCCTA intron-variant
rs1000149719 -- 55,545,236(+) TAGTA(C/T)GTTCA downstream-variant-500B
rs1000174078 -- 55,524,884(+) GCTGA(A/G)GCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP36 Gene

Variant ID Type Subtype PubMed ID
esv2759050 CNV gain 17122850
esv3575244 CNV gain 25503493
esv3583830 CNV loss 25503493
nsv1160801 CNV duplication 26073780
nsv520581 CNV loss 19592680
nsv525434 CNV loss 19592680
nsv834080 CNV loss 17160897

Variation tolerance for CFAP36 Gene

Residual Variation Intolerance Score: 47.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.76; 78.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP36 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP36

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP36 Gene

Disorders for CFAP36 Gene

Relevant External Links for CFAP36

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP36

No disorders were found for CFAP36 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP36 Gene

Publications for CFAP36 Gene

  1. Antibody to CCDC104 is associated with a paraneoplastic antibody to CDR2 (anti-Yo). (PMID: 19680650) Totland C. … Vedeler C.A. (Cancer Immunol. Immunother. 2010) 2 3 4 64
  2. The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function. (PMID: 26455799) Lokaj M. … Wittinghofer A. (Structure 2015) 2 3 64
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  4. 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
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for CFAP36 Gene

Sources for CFAP36 Gene

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