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  6. Spermatogenesis-associated protein 13

Tbio Spermatogenesis-associated protein 13

Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism. Increases both RAC1 and CDC42 activity, but decreases the amount of active RHOA. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression.

 Comments

Property Summary

NCBI Gene PubMed Count 19
Grant Count 6
R01 Count 4
Funding $416,047.99
PubMed Score 6.11
PubTator Score 9.38

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (16)

Disease Z-score Confidence
Lissencephaly 61 3.163 1.6
Chronic obstructive pulmonary disease 146 1.0
aldosterone-producing adenoma 664
glioblastoma 5,572
group 3 medulloblastoma 2,254
interstitial cystitis 2,299
juvenile dermatomyositis 1,189
medulloblastoma, large-cell 6,234
non-small cell lung cancer 2,798
osteosarcoma 7,933
ovarian cancer 8,484
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
posterior fossa group B ependymoma 1,530
primary Sjogren syndrome 789
progressive supranuclear palsy 674

Expression

  Differential Expression (14)

Disease log2 FC p
osteosarcoma 1.660 0.000
posterior fossa group B ependymoma 1.500 0.000
glioblastoma 1.200 0.000
medulloblastoma, large-cell -1.200 0.002
juvenile dermatomyositis 1.268 0.000
non-small cell lung cancer -1.410 0.000
interstitial cystitis 1.300 0.002
pediatric high grade glioma 1.100 0.000
group 3 medulloblastoma -1.400 0.008
pilocytic astrocytoma 1.600 0.000
primary Sjogren syndrome 1.300 0.005
aldosterone-producing adenoma -1.029 0.039
progressive supranuclear palsy -1.100 0.039
ovarian cancer 1.400 0.016

Synonym

Accession Q96N96 A2VEA9 A6NF85 B4DQB1 B4DSZ0 B4DVM8 J3KPJ7 J3KQH2 Q5VX68 Q6ZML1 Q8N873 Q8TEK6
Symbols ASEF2
ARHGEF29

Gene

SPATA13

PANTHER Protein Class (3)

 Grant Application (6)

 GO Function (2)

 GO Component (5)

 GO Process (5)

 Compartment GO Term (35)

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 GWAS Trait (4)

Pathway (4)

 UniProt Keyword (11)

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Gene RIF (6)

PMID Text
24874604 Phosphorylation of S106 modulates Asef2 guanine nucleotide exchange factor activity and Asef2-mediated cell migration and adhesion turnover.
24144700 A new role for Rac activation, promoted by Asef2, in modulating actomyosin contractility.
19934221 Asef2 activates Rac1 to modulate adhesion and actin dynamics and thereby regulate cell migration.
19910543 Observational study of gene-disease association. (HuGE Navigator)
19151759 Asef2, Neurabin2 and APC cooperatively regulate actin cytoskeletal organization and are required for HGF-induced cell migration.
17599059 These results suggest that similar to Asef, Asef2 plays an important role in cell migration, and that Asef2 activated by truncated mutant APC is required for aberrant migration of colorectal tumor cells.

AA Sequence 

MTSASPEDQNAPVGCPKGARRRRPISVIGGVSLYGTNQTEELDNLLTQPASRPPMPAHQVPPYKAVSARF      1 - 70
RPFTFSQSTPIGLDRVGRRRQMRASNVSSDGGTEPSALVDDNGSEEDFSYEDLCQASPRYLQPGGEQLAI     71 - 140
NELISDGNVVCAEALWDHVTMDDQELGFKAGDVIQVLEASNKDWWWGRSEDKEAWFPASFVRLRVNQEEL    141 - 210
SENSSSTPSEEQDEEASQSRHRHCENKQQMRTNVIREIMDTERVYIKHLRDICEGYIRQCRKHTGMFTVA    211 - 280
QLATIFGNIEDIYKFQRKFLKDLEKQYNKEEPHLSEIGSCFLQNQEGFAIYSEYCNNHPGACLELANLMK    281 - 350
QGKYRHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTTQEHGDYSNIKAAYEAMKNVACL    351 - 420
INERKRKLESIDKIARWQVSIVGWEGLDILDRSSELIHSGELTKITKQGKSQQRTFFLFDHQLVSCKKDL    421 - 490
LRRDMLYYKGRLDMDEMELVDLGDGRDKDCNLSVKNAFKLVSRTTDEVYLFCAKKQEDKARWLQACADER    491 - 560
RRVQEDKEMGMEISENQKKLAMLNAQKAGHGKSKGYNRCPVAPPHQGLHPIHQRHITMPTSVPQQQVFGL    561 - 630
AEPKRKSSLFWHTFNRLTPFRK                                                    631 - 652
//

Text Mined References (20)

PMID Year Title
24874604 2014 Phosphorylation of serine 106 in Asef2 regulates cell migration and adhesion turnover.
24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
24144700 2013 Activation of Rac by Asef2 promotes myosin II-dependent contractility to inhibit cell migration on type I collagen.
22837378 2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
22419666 2012 Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
22064162 2012 Genome-wide association study of comorbid depressive syndrome and alcohol dependence.
19934221 2009 The Rho-family GEF Asef2 activates Rac to modulate adhesion and actin dynamics and thereby regulate cell migration.
19910543 2010 Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke.
19893577 2009 The adenomatous polyposis coli-associated exchange factors Asef and Asef2 are required for adenoma formation in Apc(Min/+)mice.
19151759 2009 Asef2 and Neurabin2 cooperatively regulate actin cytoskeletal organization and are involved in HGF-induced cell migration.
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