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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84071
Gene name Gene Name - the full gene name approved by the HGNC.	Armadillo repeat containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ARMC2
Synonyms (NCBI Gene) Gene synonyms aliases	SPGF38, bA787I22.1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	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

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).

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

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Astrocytoma	Pilocytic astrocytoma	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Non-Syndromic Male Infertility Due To Sperm Motility Disorder	non-syndromic male infertility due to sperm motility disorder	N/A	N/A	GenCC
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Spermatogenic Failure	spermatogenic failure 38	N/A	N/A	GenCC

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

ARMC2 (armadillo repeat containing 2)