Aliases for CFAP43 Gene
Aliases for CFAP43 Gene
External Ids for CFAP43 Gene
- HGNC: 26684
- Entrez Gene: 80217
- Ensembl: ENSG00000197748
- OMIM: 617558
- UniProtKB: Q8NDM7
Previous HGNC Symbols for CFAP43 Gene
- C10orf79
- WDR96
Summaries for CFAP43 Gene
-
This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]
GeneCards Summary for CFAP43 Gene
CFAP43 (Cilia And Flagella Associated Protein 43) is a Protein Coding gene. Diseases associated with CFAP43 include Spermatogenic Failure 19 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder.
Additional gene information for CFAP43 Gene
- Monarch Initiative
- Search for CFAP43 at DataMed
- Search for CFAP43 at HumanCyc
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP43 Gene
Genomics for CFAP43 Gene
GeneHancer (GH) Regulatory Elements for CFAP43 Gene
Regulatory Element Products
Genomic Locations for CFAP43 Gene
- chr10:104,129,888-104,232,366
- (GRCh38/hg38)
- Size:
- 102,479 bases
- Orientation:
- Minus strand
- chr10:105,889,646-105,992,120
- (GRCh37/hg19)
Genomic View for CFAP43 Gene
- Cytogenetic band:
-
- 10q25.1 by Ensembl
- 10q25.1 by Entrez Gene
- 10q25.1 by HGNC


RefSeq DNA sequence for CFAP43 Gene
Proteins for CFAP43 Gene
-
Protein details for CFAP43 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NDM7-CFA43_HUMAN
- Recommended name:
- Cilia- and flagella-associated protein 43
- Protein Accession:
- Q8NDM7
- Q8N9Z8
- Q8NE17
- Q9H085
- Q9H5W3
Protein attributes for CFAP43 Gene
- Size:
- 1665 amino acids
- Molecular mass:
- 191984 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAC04133.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66835.1; Type=Frameshift; Positions=34, 625, 849, 1232, 1348, 1351, 1460, 1473, 1524, 1577; Evidence={ECO:0000305}; Sequence=CAI17220.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17221.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40457.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for CFAP43 Gene
Post-translational modifications for CFAP43 Gene
Other Protein References for CFAP43 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CFAP43
- Invitrogen Antibodies for CFAP43
- Search GeneTex for Antibodies for CFAP43
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CFAP43
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Assay Products
No data available for DME Specific Peptides for CFAP43 Gene
Domains & Families for CFAP43 Gene
Gene Families for CFAP43 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for CFAP43 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CFAP43 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NDM7- Family:
-
- Belongs to the CFAP43 family.
Function for CFAP43 Gene
Phenotypes From GWAS Catalog for CFAP43 Gene
Phenotypes for CFAP43 Gene
- GenomeRNAi human phenotypes for CFAP43:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability ratio
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Decreased homologous recombination repair frequency
- Decreased Dengue Infection
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for CFAP43 gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for CFAP43
- genomics-online: gRNA clones - Search results for available WDR96 gene related products
- Applied Biological Materials CRISPR for CFAP43
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for CFAP43
miRNA for CFAP43 Gene
- miRTarBase miRNAs that target CFAP43
miRNA Products
- Search ViGene Biosciences for CFAP43
Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for CFAP43 gene
Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available WDR96 gene related products
- orf clones - Search results for available WDR96 gene related products
- Applied Biological Materials Clones for CFAP43
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CFAP43
-
ViGene Biosciences adenoviral particle packaged cDNA for CFAP43 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CFAP43 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CFAP43 gene
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP43 Gene
Localization for CFAP43 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CFAP43 Gene
- Cell projection, cilium, flagellum.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0042995 | cell projection | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP43 Gene
Transcripts for CFAP43 Gene
mRNA/cDNA for CFAP43 Gene
- (15) REFSEQ mRNAs :
- (55) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for CFAP43
- genomics-online: gRNA clones - Search results for available WDR96 gene related products
- Applied Biological Materials CRISPR for CFAP43
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for CFAP43
miRNA Products
- Search ViGene Biosciences for CFAP43
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CFAP43
- Browse OriGene Inhibitory RNA Products For CFAP43
- genomics-online: shRNA clones - Search results for available WDR96 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CFAP43 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CFAP43
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CFAP43
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available WDR96 gene related products
- orf clones - Search results for available WDR96 gene related products
- Applied Biological Materials Clones for CFAP43
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
ExUns: | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28a | · | 28b | ^ | 29a | · | 29b | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36a | · | 36b | ^ | 37 | ^ | 38a | · | 38b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||
SP7: |
Expression for CFAP43 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP43 Gene
NURSA nuclear receptor signaling pathways regulating expression of CFAP43 Gene:
CFAP43Primer Products
-
OriGene qPCR primer pairs for CFAP43
- genomics-online: primer clones - Search results for available WDR96 gene related products
No data available for 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 CFAP43 Gene
Orthologs for CFAP43 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | WDR96 34 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | WDR96 34 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | WDR96 34 33 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Wdr96 33 |
|
||
mouse (Mus musculus) |
Mammalia | Wdr96 34 33 |
|
OneToOne | |
Cfap43 16 |
|
||||
oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
-- 34 |
|
OneToMany | |||
platypus (Ornithorhynchus anatinus) |
Mammalia | WDR96 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | WDR96 34 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | WDR96 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | wdr96 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | wdr96 34 33 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003166 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG17687 34 |
|
OneToOne | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for CFAP43 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)
- 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)
- worm (Caenorhabditis elegans)
Paralogs for CFAP43 Gene
No data available for Paralogs for CFAP43 Gene
Variants for CFAP43 Gene
SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs193921081 | uncertain-significance, Malignant tumor of prostate | 104,185,106(-) | T/C | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
rs373911488 | pathogenic, SPERMATOGENIC FAILURE 19 | 104,167,627(-) | A/G/T | coding_sequence_variant, intron_variant, stop_gained, synonymous_variant | |
rs376788209 | pathogenic, SPERMATOGENIC FAILURE 19 | 104,230,656(-) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
rs768831533 | pathogenic, SPERMATOGENIC FAILURE 19 | 104,143,452(-) | G/A/C/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, stop_gained, synonymous_variant | |
rs1000000961 | -- | 104,170,899(-) | T/C | intron_variant |
Additional Variant Information for CFAP43 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP43 Gene
Disorders for CFAP43 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
spermatogenic failure 19 |
|
|
non-syndromic male infertility due to sperm motility disorder |
|
|
epithelial recurrent erosion dystrophy |
|
|
Additional Disease Information for CFAP43
No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP43 Gene
Publications for CFAP43 Gene
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 58
- Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. (PMID: 28552195) Tang S … Zhang F (American journal of human genetics 2017) 3 58
- Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). (PMID: 25676728) Jonsson F … Golovleva I (Human mutation 2015) 4 58
- 14-3-3 epsilon dynamically interacts with key components of mitogen-activated protein kinase signal module for selective modulation of the TNF-alpha-induced time course-dependent NF-kappaB activity. (PMID: 20462248) Zuo S … Chen X (Journal of proteome research 2010) 3 58
- Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 58
Products for CFAP43 Gene
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- Invitrogen Antibodies for CFAP43
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available WDR96 related products ranked by validation data
- antibodies-online: Search results for available WDR96 related products ranked by validation data
- antibodies-online: Search results for available WDR96 related products ranked by validation data
- Search GeneTex for Antibodies for CFAP43
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- ViGene Biosciences adenoviral particle packaged cDNA for CFAP43 gene
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- genomics-online: cdna clones - Search results for available WDR96 gene related products
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Sources for CFAP43 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew