ARMC9 (armadillo repeat containing 9)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80210
Gene name Gene Name - the full gene name approved by the HGNC.
Armadillo repeat containing 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARMC9
Synonyms (NCBI Gene) Gene synonyms aliases
ARM, JBTS30, KU-MEL-1, NS21
Disease Acronyms (UniProt) Disease acronyms from UniProt database
JBTS30
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs372770167 C>A,T Pathogenic Genic upstream transcript variant, stop gained, non coding transcript variant, synonymous variant, coding sequence variant
rs750247691 G>A Pathogenic Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs753432312 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs759799287 C>A,T Pathogenic Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs766572502 G>A Likely-pathogenic Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT799309 hsa-miR-1323 CLIP-seq
MIRT799310 hsa-miR-548o CLIP-seq
MIRT799311 hsa-miR-600 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005814 Component Centriole IBA 21873635
GO:0005814 Component Centriole IDA 28625504
GO:0036064 Component Ciliary basal body IBA 21873635
GO:0036064 Component Ciliary basal body IDA 28625504
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617612 20730 ENSG00000135931
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7Z3E5
Protein name LisH domain-containing protein ARMC9 (Armadillo repeat-containing protein 9) (Melanoma/melanocyte-specific tumor antigen KU-MEL-1) (NS21)
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). Acts as a positive regulator of hedgehog (Hh)signaling (By s
Family and domains
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in most melanomas and melanocytes. Weakly expressed in the testis. {ECO:0000269|PubMed:11691810}.
Sequence 
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQK
DLVAAFDNGDQKVFFDLWEEHISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEE
LDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVHPSFKELFQDSWTPELKLKLI
KFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHN
LIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSNQMRQSLAHSVDFTRPGTASTMLRA
SLAPVKLKDVPLLPSLDYEKLKKDLILGSDRLKAFLLQALRWRLTTSHPGEQRETVLQAY
ISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFASLAEGRLYLAQNTKVLQMLEG
RLKEEDKDIITRENVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSV
ALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGHENHEIQPYVNGALYSILSVPSIREEAR
AMGMEDILRCFIKEGNAEMIRQIEFIIKQLNSEELPDGVLESDDDEDEDDEEDHDIMEAD
LDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLANVQWSGDEPLQRPVTPGGHR
NGYPVVEDQHTPPQTAQHARNGHPQALPAAHEAVYREGKPSTPESCVSSSSAIIAKPGEW
LPRGRQEEPRPAPTGTPRQPREAPQDPGNGVTTRECASAFTCKPRAPCTPEMLDWNPPKA
KASVLAPLFSSCGPQQASRPGSTASSTRGLPSSQSHRK
Sequence length 818
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (10)
Causal
Disease term Disease name dbSNP ID References
Cerebellar vermis agenesis Familial aplasia of the vermis rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003
View all (121 more)		 28625504
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Multiple myeloma Multiple myeloma MM cells lacking PSMC6 also developed resistance against Carfilzomib (CAR) GWAS, CBGDA
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 37480570
Melanoma Associate 16481377
Uveomeningoencephalitic Syndrome Associate 16481377