• Gene id: 80210

Gene Summary

• Gene Symbol: ARMC9   Gene   UCSC   Ensembl
• Aliases: ARM, JBTS30, KU-MEL-1, NS21
• Gene name: armadillo repeat containing 9
• Alternate names: lisH domain-containing protein ARMC9, armadillo repeat-containing protein 9, armadillo/beta-catenin-like repeats, melanoma/melanocyte specific protein KU-MEL-1, melanoma/melanocyte-specific tumor antigen KU-MEL-1,
• Gene location: 2q37.1 (231198627: 231394990)     Exons: 34     NC_000002.12
• OMIM: 609691

SNPs

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

Protein Summary

• Protein general information: Q7Z3E5  
  • Name: LisH domain containing protein ARMC9 (Armadillo repeat containing protein 9) (Melanoma/melanocyte specific tumor antigen KU MEL 1) (NS21)
  • Length: 818  
  • Mass: 91819
  • Tissue specificity: Strongly expressed in most melanomas and melanocytes. Weakly expressed in the testis. {ECO
• Sequence:

  MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFF
  DLWEEHISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYA
  LPFVPNPMVHPSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSV
  TYLKRYNKIQADYHNLIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSNQMRQSLAHSVDFTRPGTASTMLRA
  SLAPVKLKDVPLLPSLDYEKLKKDLILGSDRLKAFLLQALRWRLTTSHPGEQRETVLQAYISNDLLDCYSHNQRS
  VLQLLHSTSDVVRQYMARLINAFASLAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRENVLGALQKFSLRRPLQT
  AMIQDGLIFWLVDVLKDPDCLSDYTLEYSVALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGHENHEIQPYVNGA
  LYSILSVPSIREEARAMGMEDILRCFIKEGNAEMIRQIEFIIKQLNSEELPDGVLESDDDEDEDDEEDHDIMEAD
  LDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLANVQWSGDEPLQRPVTPGGHRNGYPVVEDQHTPPQT
  AQHARNGHPQALPAAHEAVYREGKPSTPESCVSSSSAIIAKPGEWLPRGRQEEPRPAPTGTPRQPREAPQDPGNG
  VTTRECASAFTCKPRAPCTPEMLDWNPPKAKASVLAPLFSSCGPQQASRPGSTASSTRGLPSSQSHRK

• Structural information:
  • Protein Domains: (7..3-)
    (/note="LisH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00126"-)
  • Interpro: IPR011989  IPR016024  IPR040369  IPR006594  
  • Prosite: PS50896
  • STRING: ENSP00000484804
• Other Databases: GeneCards:  ARMC9  Malacards:  ARMC9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097542	ciliary tip	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0036064	ciliary basal body	IBA	cellular component
GO:0005814	centriole	IBA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0097542	ciliary tip	ISS	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0045880	positive regulation of smoothened signaling pathway	ISS	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097542	ciliary tip	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Joubert syndrome	KEGG:H00530
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq