• Gene id: 84071

Gene Summary

• Gene Symbol: ARMC2   Gene   UCSC   Ensembl
• Aliases: SPGF38, bA787I22.1
• Gene name: armadillo repeat containing 2
• Alternate names: armadillo repeat-containing protein 2,
• Gene location: 6q21 (108848409: 108989089)     Exons: 25     NC_000006.12
• OMIM: 618424

Protein Summary

• Protein general information: Q8NEN0  
  • Name: Armadillo repeat containing protein 2
  • Length: 867  
  • Mass: 96867
  • Tissue specificity: Expressed at higher level in testis. {ECO
• Sequence:

  MLSPNDKMLGKLDPFYQPSVSKQKTSAEIISEARNALRTVRTQRPFTPQEAQRKLFGPASSRTSENRPPSSFSLH
  ASSFESSDSRPISGTRLSPLELKPKVPASPTREEDSCFSFPKPPVDPAKIRRVSNARARLFRAASQRALLPDRSL
  PPSDSKKTVESKETVMMGDSMVKINGIYLTKSNAICHLKSHPLQLTDDGGFSEIKEQEMFKGTTSLPSHLKNGGD
  QGKRHARASSCPSSSDLSRLQTKAVPKADLQEEDAEIEVDEVFWNTRIVPILRELEKEENIETVCAACTQLHHAL
  EEGNMLGNKFKGRSILLKTLCKLVDVGSDSLSLKLAKIILALKVSRKNLLNVCKLIFKISRNEKNDSLIQNDSIL
  ESLLEVLRSEDLQTNMEAFLYCMGSIKFISGNLGFLNEMISKGAVEILINLIKQINENIKKCGTFLPNSGHLLVQ
  VTATLRNLVDSSLVRSKFLNISALPQLCTAMEQYKGDKDVCTNIARIFSKLTSYRDCCTALASYSRCYALFLNLI
  NKYQKKQDLVVRVVFILGNLTAKNNQAREQFSKEKGSIQTLLSLFQTFHQLDLHSQKPVGQRGEQHRAQRPPSEA
  EDVLIKLTRVLANIAIHPGVGPVLAANPGIVGLLLTTLEYKSLDDCEELVINATATINNLSYYQVKNSIIQDKKL
  YIAELLLKLLVSNNMDGILEAVRVFGNLSQDHDVCDFIVQNNVHRFMMALLDAQHQDICFSACGVLLNLTVDKDK
  RVILKEGGGIKKLVDCLRDLGPTDWQLACLVCKTLWNFSENITNASSCFGNEDTNTLLLLLSSFLDEELALDGSF
  DPDLKNYHKLHWETEFKPVAQQLLNRIQRHHTFLEPLPIPSF

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR000225  IPR038905  
  • STRING: ENSP00000376417
• Other Databases: GeneCards:  ARMC2  Malacards:  ARMC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007288	sperm axoneme assembly	IMP	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Spermatogenic failure	KEGG:H01282
Spermatogenic failure	KEGG:H01282
Multiple morphological abnormalities of the flagella (MMAF)	MIK: 30686508
Asthenoteratozoospermia	MIK: 30686508
Male infertility	MIK: 30686508
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30686508	Multiple morphological abnormalities of the flagella (MMAF), Asthenoteratozoospermia, Male infertility	c.1023+1G>A, c.2279T>A, c.2353_2354delTT, c.1284_1288delACAAA , c.421C>T		168 infertile men	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray