TOGARAM1 (TOG array regulator of axonemal microtubules 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 23116
Gene name TOG array regulator of axonemal microtubules 1
Gene symbol TOGARAM1
Synonyms (NCBI Gene)
FAM179BJBTS37KIAA0423
Chromosome 14
Chromosome location 14q21.2
miRNA miRNA information provided by mirtarbase database.
2
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miRTarBase ID miRNA Experiments Reference
MIRT440681 hsa-miR-376a-5p HITS-CLIP 24374217
MIRT440681 hsa-miR-376a-5p HITS-CLIP 24374217
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18 Show/Hide all (18)
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GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0005515 Function Protein binding IPI 32453716
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005874 Component Microtubule ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
617618 19959 ENSG00000198718
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.
Q9Y4F4
Protein name TOG array regulator of axonemal microtubules protein 1 (Crescerin-1) (Protein FAM179B)
Protein function Involved in ciliogenesis (PubMed:32453716). It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716). Interacts with microtubules and promotes microtubule polymer
Family and domains
Sequence 
MAAAPSALLLLPPFPVLSTYRLQSRSRPSAPETDDSRVGGIMRGEKNYYFRGAAGDHGSC
PTTTSPLASALLMPSEAVSSSWSESGGGLSGGDEEDTRLLQLLRTARDPSEAFQALQAAL
PRRGGRLGFPRRKEALYRALGRVLVEGGSDEKRLCLQLLSDVLRGQGEAGQLEEAFSLAL
LPQLVVSLREENPALRKDALQILHICLKRSPGEVLRTLIQQGLESTDARLRASTALLLPI
LLTTEDLLLGLDLTEVIISLARKLGDQETEEESETAFSALQQIGERLGQDRFQSYISRLP
SALRRHYNRRLESQFGSQVPYYLELEASGFPEDPLPCAVTLSNSNLKFGIIPQELHSRLL
DQEDYKNRTQAVEELKQVLGKFNPSSTPHSSLVGFISLLYNLLDDSNFKVVHGTLEVLHL
LVIRLGEQVQQFLGPVIAASVKVLADNKLVIKQEYMKIFLKLMKEVGPQQVLCLLLEHLK
HKHSRVREEVVNICICSLLTYPSEDFDLPKLSFDLAPALVDSKRRVRQAALEAFAVLASS
MGSGKTSILFKAVDTVELQDNGDGVMNAVQARLARKTLPRLTEQGFVEYAVLMPSSAGGR
SNHLAHGADTDWLLAGNRTQSAHCHCGDHVRDSMHIYGSYSPTICTRRVLSAGKGKNKLP
WENEQPGIMGENQTSTSKDIEQFSTYDFIPSAKLKLSQGMPVNDDLCFSRKRVSRNLFQN
SRDFNPDCLPLCAAGTTGTHQTNLSGKCAQLGFSQICGKTGSVGSDLQFLGTTSSHQEKV
YASLNFGSKTQQTFGSQTECTSSNGQNPSPGAYILPSYPVSSPRTSPKHTSPLIISPKKS
QDNSVNFSNSWPLKSFEGLSKPSPQKKLVSQKSSDPTGRNHGENSQEKPPVQLTPALVRS
PSSRRGLNGTKPVPPIPRGISLLPDKADLSTVGHKKKEPDDIWKCEKDSLPIDLSELNFK
DKDLDQEEMHSSLRSLRNSAAKKRAKLSGSTSDLESPDSAMKLDLTMDSPSLSSSPNINS
YSESGVYSQESLTSSLSTTPQGKRIMSDIFPTFGSKPCPTRLSSAKKKISHIAEQSPSAG
SSSNPQQISSFDFTTTKALSEDSVVVVGKGVFGSLSSAPATCSQSVISSVENGDTFSIKQ
SIEPPSGIYGRSVQQNISSYLDVENEKDAKVSISKSTYNKMRQKRKEEKELFHNKDCEKK
EKNSWERMRHTGTEKMASESETPTGAISQYKERMPSVTHSPEIMDLSELRPFSKPEIALT
EALRLLADEDWEKKIEGLNFIRCLAAFHSEILNTKLHETNFAVVQEVKNLRSGVSRAAVV
CLSDLFTYLKKSMDQELDTTVKVLLHKAGESNTFIREDVDKALRAMVNNVTPARAVVSLI
NGGQRYYGRKMLFFMMCHPNFEKMLEKYVPSKDLPYIKDSVRNLQQKGLGEIPLDTPSAK
GRRSHTGSVGNTRSSSVSRDAFNSAERAVTEVREVTRKSVPRNSLESAEYLKLITGLLNA
KDFRDRINGIKQLLSDTENNQDLVVGNIVKIFDAFKSRLHDSNSKVNLVALETMHKMIPL
LRDHLSPIINMLIPAIVDNNLNSKNPGIYAAATNVVQALSQHVDNYLLLQPFCTKAQFLN
GKAKQDMTEKLADIVTELYQRKPHATEQKVLVVLWHLLGNMTNSGSLPGAGGNIRTATAK
LSKALFAQMGQNLLNQAASQPPHIKKSLEELLDMTILNEL
Sequence length 1720
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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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
Joubert syndrome Pathogenic rs368448387, rs1885329722, rs1463041654, rs759684383 RCV001175207
RCV001257978
RCV001258004
RCV001257977
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 37 Likely pathogenic; Pathogenic rs1037051745, rs987763947, rs368448387, rs1885329722, rs1463041654, rs759684383, rs370236552 RCV002280237
RCV002280923
RCV001293025
RCV001293023
RCV001293026
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 (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
Brown syndrome Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BROWN TENDON SHEATH SYNDROME — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHIES — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHY — CTD 32747439, 32453716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar —
★★★★★
★★☆☆☆
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
Colorectal Neoplasms Colorectal neoplasm Pubtator 34184409 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 31525662
★★★★★
★☆☆☆☆
Found in Text Mining only
Lymphoma, Non-Hodgkin Non-Hodgkin lymphoma BEFREE 24530479, 24831772
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 24530479, 24831772
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28512144
★★★★★
★☆☆☆☆
Found in Text Mining only
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TMEM218 9 shared diseasesCiliopathy, Lissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 12 shared evidence sourcesDisgenet (Ciliopathy), Disgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 9 shared diseases including Ciliopathy, Lissencephaly — evidence mostly Disgenet. B9D2 9 shared diseasesCiliopathy, Lissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 11 shared evidence sourcesDisgenet (Ciliopathy), CTD (Ciliopathy), Disgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 9 shared diseases including Ciliopathy, Lissencephaly — evidence mostly Disgenet. FAM149B1 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 10 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Disgenet (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet. ARL3 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 12 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), GWAS catalog (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet. TMEM237 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 12 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), GWAS catalog (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet.
Meckel-gruber syndrome Linked via 3 of 5 related genesTMEM218, B9D2, TMEM237 Lung cancer Linked via 2 of 5 related genesTMEM218, TMEM237 Retinitis pigmentosa Linked via 2 of 5 related genesARL3, TMEM237 Coronary artery disease Linked via 1 of 5 related genesB9D2 Migraine Linked via 1 of 5 related genesB9D2