ARMC2 (armadillo repeat containing 2)

Gene

• Entrez ID: 84071
• Gene name: Armadillo repeat containing 2
• Gene symbol: ARMC2
• Synonyms (NCBI Gene): SPGF38, bA787I22.1
• Chromosome: 6
• Chromosome location: 6q21

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1562332833	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained, intron variant
rs1562372417	G>A	Pathogenic	Splice donor variant
rs1562435988	T>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1562436860	TT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018174	hsa-miR-335-5p	Microarray	18185580
MIRT020851	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT799143	hsa-miR-3169	CLIP-seq
MIRT799144	hsa-miR-4540	CLIP-seq
MIRT799145	hsa-miR-489	CLIP-seq
MIRT799146	hsa-miR-514	CLIP-seq
MIRT799147	hsa-miR-514b-3p	CLIP-seq
MIRT1935942	hsa-miR-155	CLIP-seq
MIRT1935943	hsa-miR-2053	CLIP-seq
MIRT1935944	hsa-miR-3692	CLIP-seq
MIRT1935945	hsa-miR-4728-3p	CLIP-seq
MIRT1935946	hsa-miR-548ae	CLIP-seq
MIRT1935947	hsa-miR-548aj	CLIP-seq
MIRT1935948	hsa-miR-548am	CLIP-seq
MIRT1935949	hsa-miR-548x	CLIP-seq
MIRT1935950	hsa-miR-569	CLIP-seq
MIRT2176000	hsa-miR-2116	CLIP-seq
MIRT2176001	hsa-miR-3653	CLIP-seq
MIRT2176002	hsa-miR-3658	CLIP-seq
MIRT2176003	hsa-miR-4277	CLIP-seq
MIRT2444018	hsa-miR-3680	CLIP-seq
MIRT2444019	hsa-miR-4798-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005515	Function	Protein binding	IPI	24407287
GO:0006997	Process	Nucleus organization	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007288	Process	Sperm axoneme assembly	IBA
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0007288	Process	Sperm axoneme assembly	IMP	30686508
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0044782	Process	Cilium organization	IBA
GO:0044782	Process	Cilium organization	IEA

Other IDs

• MIM: 618424
• HGNC: 23045
• e!Ensembl: ENSG00000118690

Protein

• UniProt ID: Q8NEN0
• Protein name: Armadillo repeat-containing protein 2
• Protein function: Required for sperm flagellum axoneme organization and function (By similarity). Involved in axonemal central pair complex assembly and/or stability (By similarity).
• Tissue specificity: TISSUE SPECIFICITY: Expressed at higher level in testis. {ECO:0000269|PubMed:30686508}.
• Sequence:

  MLSPNDKMLGKLDPFYQPSVSKQKTSAEIISEARNALRTVRTQRPFTPQEAQRKLFGPAS
  SRTSENRPPSSFSLHASSFESSDSRPISGTRLSPLELKPKVPASPTREEDSCFSFPKPPV
  DPAKIRRVSNARARLFRAASQRALLPDRSLPPSDSKKTVESKETVMMGDSMVKINGIYLT
  KSNAICHLKSHPLQLTDDGGFSEIKEQEMFKGTTSLPSHLKNGGDQGKRHARASSCPSSS
  DLSRLQTKAVPKADLQEEDAEIEVDEVFWNTRIVPILRELEKEENIETVCAACTQLHHAL
  EEGNMLGNKFKGRSILLKTLCKLVDVGSDSLSLKLAKIILALKVSRKNLLNVCKLIFKIS
  RNEKNDSLIQNDSILESLLEVLRSEDLQTNMEAFLYCMGSIKFISGNLGFLNEMISKGAV
  EILINLIKQINENIKKCGTFLPNSGHLLVQVTATLRNLVDSSLVRSKFLNISALPQLCTA
  MEQYKGDKDVCTNIARIFSKLTSYRDCCTALASYSRCYALFLNLINKYQKKQDLVVRVVF
  ILGNLTAKNNQAREQFSKEKGSIQTLLSLFQTFHQLDLHSQKPVGQRGEQHRAQRPPSEA
  EDVLIKLTRVLANIAIHPGVGPVLAANPGIVGLLLTTLEYKSLDDCEELVINATATINNL
  SYYQVKNSIIQDKKLYIAELLLKLLVSNNMDGILEAVRVFGNLSQDHDVCDFIVQNNVHR
  FMMALLDAQHQDICFSACGVLLNLTVDKDKRVILKEGGGIKKLVDCLRDLGPTDWQLACL
  VCKTLWNFSENITNASSCFGNEDTNTLLLLLSSFLDEELALDGSFDPDLKNYHKLHWETE
  FKPVAQQLLNRIQRHHTFLEPLPIPSF

• Sequence length: 867

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal sperm tail morphology	Pathogenic	rs1562372417	RCV000755050
Male infertility with teratozoospermia due to single gene mutation	Pathogenic	rs1562372417, rs1562435988, rs1562436860, rs1562381747, rs1562332833	RCV000785789 RCV000785790 RCV000785791 RCV000785792 RCV000785793
Spermatogenic failure 38	Pathogenic	rs1562372417, rs1562435988, rs1562436860, rs1562381747, rs1562332833	RCV000771003 RCV000771004 RCV000771005 RCV000771006 RCV000771007

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ARMC2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	rs143895116, rs73524086, rs181478757, rs116681118, rs9386758, rs199732181, rs147935937, rs61741720, rs113651966, rs11153136, rs41287540	RCV004757416 RCV003909235 RCV003924063 RCV003974079 RCV003974046 RCV003944341 RCV003944691 RCV003979133 RCV003964324 RCV003979206 RCV003982136

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	38492154, 40158138
Abnormalities Multiple	Associate	35543806
Allergic Fungal Sinusitis	Associate	40158138
Asperger Syndrome	Associate	26176695
Asthenozoospermia	Associate	40158138
Bronchitis	Associate	40158138
Ciliary Motility Disorders	Associate	40158138
Infections	Associate	40158138
Infertility Male	Associate	35543806, 38492154, 40158138
Lung Diseases	Associate	40158138
Renal Tubular Acidosis Distal With Normal Red Cell Morphology	Associate	40158138
Skin Manifestations	Associate	40158138