• Gene id: 221178

Gene Summary

• Gene Symbol: SPATA13   Gene   UCSC   Ensembl
• Aliases: ARHGEF29, ASEF2
• Gene name: spermatogenesis associated 13
• Alternate names: spermatogenesis-associated protein 13, APC-stimulated guanine nucleotide exchange factor 2, adenomatous polyposis coli stimulated exchange factor 2,
• Gene location: 13q12.12 (23979801: 24307073)     Exons: 20     NC_000013.11
• OMIM: 613324

Protein Summary

• Protein general information: Q96N96  
  • Name: Spermatogenesis associated protein 13 (APC stimulated guanine nucleotide exchange factor 2) (Asef2)
  • Length: 652  
  • Mass: 74820
  • Tissue specificity: Expressed at high levels in the placenta, spleen and kidney, at moderate levels in lung, small intestine, liver, brain and heart, and at low levels in skeletal muscle. Expression is aberrantly enhanced in most colorectal tumors. {ECO
• Sequence:

  MTSASPEDQNAPVGCPKGARRRRPISVIGGVSLYGTNQTEELDNLLTQPASRPPMPAHQVPPYKAVSARFRPFTF
  SQSTPIGLDRVGRRRQMRASNVSSDGGTEPSALVDDNGSEEDFSYEDLCQASPRYLQPGGEQLAINELISDGNVV
  CAEALWDHVTMDDQELGFKAGDVIQVLEASNKDWWWGRSEDKEAWFPASFVRLRVNQEELSENSSSTPSEEQDEE
  ASQSRHRHCENKQQMRTNVIREIMDTERVYIKHLRDICEGYIRQCRKHTGMFTVAQLATIFGNIEDIYKFQRKFL
  KDLEKQYNKEEPHLSEIGSCFLQNQEGFAIYSEYCNNHPGACLELANLMKQGKYRHFFEACRLLQQMIDIAIDGF
  LLTPVQKICKYPLQLAELLKYTTQEHGDYSNIKAAYEAMKNVACLINERKRKLESIDKIARWQVSIVGWEGLDIL
  DRSSELIHSGELTKITKQGKSQQRTFFLFDHQLVSCKKDLLRRDMLYYKGRLDMDEMELVDLGDGRDKDCNLSVK
  NAFKLVSRTTDEVYLFCAKKQEDKARWLQACADERRRVQEDKEMGMEISENQKKLAMLNAQKAGHGKSKGYNRCP
  VAPPHQGLHPIHQRHITMPTSVPQQQVFGLAEPKRKSSLFWHTFNRLTPFRK

• Structural information:
  • Protein Domains: (147..20-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (240..42-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (455..56-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR035899  IPR000219  IPR011993  IPR001849  IPR036028   IPR001452  
  • Prosite: PS50010 PS50003 PS50002
  • CDD: cd00160
  • STRING: ENSP00000398560
• Other Databases: GeneCards:  SPATA13  Malacards:  SPATA13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032587	ruffle membrane	IDA	cellular component
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0030175	filopodium	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0030334	regulation of cell migration	IMP	biological process
GO:0030334	regulation of cell migration	IMP	biological process
GO:0030032	lamellipodium assembly	IMP	biological process
GO:0016477	cell migration	IMP	biological process
GO:0016477	cell migration	IMP	biological process
GO:0046847	filopodium assembly	IMP	biological process
GO:0046847	filopodium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032587	ruffle membrane	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray