Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84071
Gene name	Armadillo repeat containing 2
Gene symbol	ARMC2
Synonyms (NCBI Gene)	SPGF38bA787I22.1
Chromosome	6
Chromosome location	6q21

Show/Hide all (4)

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

Show/Hide all (22)

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

Show/Hide all (12)

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

MIM	HGNC	e!Ensembl
618424	23045	ENSG00000118690

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).

Family and domains

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

Interactions

View interactions

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
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
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	★★★★★ ★★☆☆☆ 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
TERATOZOOSPERMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asperger Syndrome	Asperger syndrome	Pubtator	26176695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	30686508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	40158138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	Pubtator	40158138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	28166215, 30804561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	40158138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	35543806, 38492154, 40158138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	40158138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Male infertility with teratozoospermia due to single gene mutation	Male Infertility With Teratozoospermia	CLINVAR_DG	30686508		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	23535732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-syndromic male infertility due to sperm motility disorder	Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	23535732, 29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ARMC2 (armadillo repeat containing 2)