CFAP61 (cilia and flagella associated protein 61)

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Gene Gene information from NCBI Gene database.
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Entrez ID 26074
Gene name Cilia and flagella associated protein 61
Gene symbol CFAP61
Synonyms (NCBI Gene)
C20orf26CaM-IP3SPGF84dJ1002M8.3dJ1178H5.4
Chromosome 20
Chromosome location 20p11.23
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14 Show/Hide all (14)
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GO ID Ontology Definition Evidence Reference
GO:0001536 Component Radial spoke stalk ISS
GO:0003341 Process Cilium movement ISS
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005929 Component Cilium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
620381 15872 ENSG00000089101
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NHU2
Protein name Cilia- and flagella-associated protein 61
Protein function Involved in sperm flagellum assembly (PubMed:34792097, PubMed:35174165). Plays an essential role in the formation of the radial spokes in flagellum axoneme (By similarity). {ECO:0000250|UniProtKB:Q8CEL2, ECO:0000269|PubMed:34792097, ECO:0000269|
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16092 DUF4821 15 → 268 Domain of unknown function (DUF4821) Family
Sequence 
MSVLTSPRGKVEVVHCRRTESQDVYCIKSLIRKFTCKLFGKLNIIYLLEKANLAVTLCND
KEEIMAQATFLDYPNWNVAKQDDWVSVFRELDSDIPCTPLNTLFMHLFVAVDEYSVGCCK
EILRTVYKAVPELHFIFLIVPSYMSLGSTLITVFDQVGNIPCLTYEEDFAVHICHRHSHY
PQLHVRKARVEDHDDLMPIFMRYDTILKETYGEYFLAELIEAQDEENHAVVCEVEGTAVG
FMSVCSRVNMQLLHECFDLGPFHGLCFPHPDDVLESPQDLSVRRSQDAELRSSSQGSQKI
VEELQEPVSPDTMENIQGNIAREAASEEALTAVQSGNVSEPEDIEKLSDISTGYAQYHHV
SSRSLASLVLPEEPVHFRPIYRGASAAFCIQLFCIDEKYEARSLDFMNFVFSLFSDKNFC
VISLPHLTPEFFLIQNFVKMVPFNTCTLEQDLYVFHRAGLLKSINIRFATLLDTPGVENL
VSTLMLNKSILEDLDRYNKARKDPDGTLLQAFVAEVAEQIVGIAVIRNEMDIEYIRSHYN
IEDFIYFSHHQREEHGHMHHFALNPIFRHYTKFFLKEILRLGFKSCLYYRVYPKSREGKF
QNPYAHSLTSALHYLVPVRPRRQIVYPLEKLGINAPSKAVSKDPMSYALNHTNRKLTLEP
KITVNAKIIVVGASSVGISFLETLVFCSHMKFNNLTLISTHGLPGKKLLDTEQRKFLASD
HCFNDKDYALMSLCSWVNVVVGRMTGIDRAAKHVVLSTDEIVPYDHLILCTGQQYQVPCP
TEADISQHLTNREVPNSSQRRYTGKVPCNHFTLNEEEDCFKALIWIRNNSITTEGNIIVY
GNTIDTYTTVETLLNLGVSGSRIHLVQPPPASTITCINNYSVESAVADALGAAGVTMYRD
AILAQWNDGLHPDPIYSASFTTPTKPFRLQCSMFFSFCEKNVDYETFKALNDACLVYDSR
LVIDTNFHTNDIAIRAAGSLTKFSNRYYSNEWTHSNFSSKEIGFQLAAAMLHLFDPTLEP
VTEPPANLDRLIPMYKGAKIQGGILPGSYHYLHIAKPAIPTPLEVQMAQPNYGLELVTGS
AKNGTYFRIHINKYKMVETITCLSREPFPASNYIRLFGQHEQLLNNLCARYDENLITDLY
SYFTEPWCLALFHDRFIDLRKELRQILASKEEEDLPSIEQLAHQIEDEEINPTEKPRQYL
KRVFEESIYKTLVERSTLDYLHYNRYHLPMYAWPGIV
Sequence length 1237
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spermatogenic failure 84 Pathogenic rs766465847, rs2515805050, rs201899206, rs370567248, rs115717092, rs2515793320, rs116775353 RCV003232892
RCV003232893
RCV003232894
RCV003232895
RCV003232896
View all (2 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
DEMENTIA — GWAS catalog 39046104
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog 35730328
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO LARGE-HEADED MULTIFLAGELLAR POLYPLOID SPERMATOZOA — Orphanet 35387802
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION — GWAS catalog 36222912
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety disorder Pubtator 35730328 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 35730328 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Obesity Obesity BEFREE 28224759
★★★★★
★☆☆☆☆
Found in Text Mining only
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ARMC12 2 shared diseasesMale infertility large polyploid spermatozoa, Spermatogenic failure 5 shared evidence sourcesOrphanet (Male infertility large polyploid spermatozoa), Disgenet (Male infertility large polyploid spermatozoa), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Male infertility large polyploid spermatozoa, Spermatogenic failure — evidence mostly Disgenet. AKAP3 2 shared diseasesMale infertility large polyploid spermatozoa, Spermatogenic failure 5 shared evidence sourcesOrphanet (Male infertility large polyploid spermatozoa), Disgenet (Male infertility large polyploid spermatozoa), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Male infertility large polyploid spermatozoa, Spermatogenic failure — evidence mostly Disgenet. TEX14 2 shared diseasesOcular hypertension, Spermatogenic failure 4 shared evidence sourcesGWAS catalog (Ocular hypertension), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Ocular hypertension, Spermatogenic failure — evidence mostly GWAS catalog. DNHD1 2 shared diseasesMale infertility large polyploid spermatozoa, Spermatogenic failure 5 shared evidence sourcesOrphanet (Male infertility large polyploid spermatozoa), Disgenet (Male infertility large polyploid spermatozoa), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Male infertility large polyploid spermatozoa, Spermatogenic failure — evidence mostly Disgenet. AURKC 2 shared diseasesMale infertility large polyploid spermatozoa, Spermatogenic failure 3 shared evidence sourcesOrphanet (Male infertility large polyploid spermatozoa), Disgenet (Male infertility large polyploid spermatozoa), HPO (Spermatogenic failure) Related via 2 shared diseases including Male infertility large polyploid spermatozoa, Spermatogenic failure — evidence mostly Orphanet.
Male infertility single gene azoospermia Linked via 2 of 5 related genesTEX14, DNHD1 Male infertility spermatogenesis disorder Linked via 2 of 5 related genesDNHD1, AURKC Color vision deficiency Linked via 1 of 5 related genesAKAP3 Gout Linked via 1 of 5 related genesTEX14 Hypertension Linked via 1 of 5 related genesTEX14