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

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal sperm tail morphology	Pathogenic	rs1562372417	RCV000755050	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with teratozoospermia due to single gene mutation	Pathogenic	rs1562372417, rs1562435988, rs1562436860, rs1562381747, rs1562332833	RCV000785789 RCV000785790 RCV000785791 RCV000785792 RCV000785793	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spermatogenic failure 38	Pathogenic	rs1562372417, rs1562435988, rs1562436860, rs1562381747, rs1562332833	RCV000771003 RCV000771004 RCV000771005 RCV000771006 RCV000771007	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARMC2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

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