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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.

Additional gene information for CFAP36 Gene

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

GeneHancer (GH) Regulatory Elements for CFAP36 Gene

Promoters and enhancers for CFAP36 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
GH02J055518 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.2 239 2.5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CFAP36 CLHC1 LOC100128027 PNPT1 ENSG00000212175
GH02J055416 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.1 -100.8 -100794 4.4 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 CCDC88A GC02M055419 PIR31107 GC02P055419 CLHC1 CFAP36 GC02P055385
GH02J055555 Enhancer 0.5 ENCODE 11 +36.6 36614 1.7 PRDM6 ZNF366 CEBPB PRDM1 PRORSD1P CFAP36 CCDC88A RNU6-634P ENSG00000212175 PPP4R3B
GH02J055511 Enhancer 0.6 Ensembl 0.4 -7.9 -7894 0.2 CTCF REST RAD21 ATF2 ZNF830 ZNF316 IKZF1 SMC3 MAFK PRDM1 CCDC88A RNU6-221P ENSG00000212175 CLHC1 ENSG00000240401 CFAP36 RNU6-634P
GH02J055550 Enhancer 0.6 ENCODE 0.3 +30.9 30941 1 JUN FEZF1 ZEB2 PRDM6 BCL6B FOS PRDM4 SP7 ENSG00000212175 CFAP36 PPP4R3B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP36 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP36 Gene

Genomic Locations for CFAP36 Gene
chr2:55,519,595-55,545,879
(GRCh38/hg38)
Size:
26,285 bases
Orientation:
Plus strand
chr2:55,746,740-55,773,015
(GRCh37/hg19)
Size:
26,276 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 Lys336, posLast=334334, Lys303, Lys293, Lys282, Lys155, posLast=116116, Lys110, posLast=8989, Lys70, and Lys63
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CFAP36 Gene

Domains & Families for CFAP36 Gene

Gene Families for CFAP36 Gene

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

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

Function for CFAP36 Gene

Molecular function for CFAP36 Gene

UniProtKB/Swiss-Prot Function:
May act as an effector for ARL3.

Gene Ontology (GO) - Molecular Function for CFAP36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26455799
GO:0047485 protein N-terminus binding IMP 26455799
genes like me logo Genes that share ontologies with CFAP36: view
genes like me logo Genes that share phenotypes with CFAP36: view

Animal Models for CFAP36 Gene

MGI Knock Outs for CFAP36:
  • Cfap36 Cfap36<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for CFAP36 Gene

miRTarBase miRNAs that target CFAP36

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP36

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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:0031514 motile cilium IEA --
GO:0035869 ciliary transition zone IDA 26455799
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP36: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP36 Gene

Pathways & Interactions for CFAP36 Gene

SuperPathways for CFAP36 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFAP36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CFAP36: view

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP36

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, 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

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 33
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC104 34 33
  • 93.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC104 34 33
  • 91.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc104 34 33
  • 88.5 (n)
OneToOne
Cfap36 16
rat
(Rattus norvegicus)
Mammalia Ccdc104 33
  • 87.33 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC104 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC104 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC104 34 33
  • 66.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC104 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc104 33
  • 61.72 (n)
MGC76095 33
African clawed frog
(Xenopus laevis)
Amphibia mgc15407-prov 33
zebrafish
(Danio rerio)
Actinopterygii ccdc104 34 33
  • 52.87 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14367 34
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y108G3AL.3 34
  • 12 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2835 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP36: view image

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 Variation AA Info Type
rs1000056935 -- 55,536,470(+) G/T intron_variant
rs1000121024 -- 55,539,042(+) T/C intron_variant
rs1000149719 -- 55,545,236(+) T/C downstream_transcript_variant
rs1000174078 -- 55,524,884(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000347602 -- 55,533,316(+) G/A 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)

Additional Variant Information 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

Additional Disease Information for 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 CA (Cancer immunology, immunotherapy : CII 2010) 2 3 4 58
  2. The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function. (PMID: 26455799) Lokaj M … Wittinghofer A (Structure (London, England : 1993) 2015) 2 3 58
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  4. 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 58
  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 HF … Gray A (Genome research 2003) 3 4 58

Products for CFAP36 Gene

Sources for CFAP36 Gene

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