• Gene id: 259173

Gene Summary

• Gene Symbol: ALS2CL   Gene   UCSC   Ensembl
• Aliases: RN49018
• Gene name: ALS2 C-terminal like
• Alternate names: ALS2 C-terminal-like protein,
• Gene location: 3p21.31 (46693692: 46668994)     Exons: 32     NC_000003.12
• OMIM: 610701

Protein Summary

• Protein general information: Q60I27  
  • Name: ALS2 C terminal like protein
  • Length: 953  
  • Mass: 107748
  • Tissue specificity: Expressed in heart and kidney. {ECO
• Sequence:

  MCNPEEAALLRLEEVFSATLAHVNSLVLQPLLPAAPDPSDPWGRECLRLLQQLHKSSQQLWEVTEESLHSLQERL
  RYPDSTGLESLLLLRGADRVLQAHIEYIESYTSCMVVQAFQKAAKRRSEYWRGQRKALRQLLSGVSSEGSVGASL
  GQALHQPLAHHVQQYVLLLLSLGDTIGEHHPTRELVVNAVTLFGNLQSFMKQELDQAVATQALWHTLRGRLRDVL
  CTPAHRLLQDSQDVPVTVAPLRAERVLLFDDALVLLQGHNVHTFDLKLVWVDPGQDGCTFHLLTPEEEFSFCAKD
  SQGQAVWQWKVTWAVHQALHGKKDFPVLGAGLEPSQPPDCRCAEYTFQAEGRLCQATYEGEWCRGRPHGKGTLKW
  PDGRNHVGNFCQGLEHGFGIRLLPQASEDKFDCYKCHWREGSMCGYGICEYSTDEVYKGYFQEGLRHGFGVLESG
  PQAPQPFRYTGHWERGQRSGYGIEEDGDRGERYIGMWQAGQRHGPGVMVTQAGVCYQGTFQADKTVGPGILLSED
  DSLYEGTFTRDLTLMGKGKVTFPNGFTLEGSFGSGAGRGLHTQGVLDTAALPPDPSSTCKRQLGVGAFPVESRWQ
  GVYSPFRDFVCAGCPRDLQEALLGFDVQSSRELRRSQDYLSCERTHPEDSVGSMEDILEELLQHREPKALQLYLR
  KALSNSLHPLGKLLRTLMLTFQATYAGVGANKHLQELAQEEVKQHAQELWAAYRGLLRVALERKGQALEEDEDTE
  TRDLQVHGLVLPLMLPSFYSELFTLYLLLHEREDSFYSQGIANLSLFPDTQLLEFLDVQKHLWPLKDLTLTSNQR
  YSLVRDKCFLSATECLQKIMTTVDPREKLEVLERTYGEIEGTVSRVLGREYKLPMDDLLPLLIYVVSRARIQHLG
  AEIHLIRDMMDPNHTGGLYDFLLTALESCYEHIQKEDMRLHRLPGHWHSRELW

• Structural information:
  • Protein Domains: (796..94-)
    (/note="VPS9-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00550"-)
  • Interpro: IPR035899  IPR003409  IPR003123  IPR037191  
  • Prosite: PS51205
  • STRING: ENSP00000313670
• Other Databases: GeneCards:  ALS2CL  Malacards:  ALS2CL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007032	endosome organization	IGI	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq