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SPATA13 (spermatogenesis associated 13)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
221178
Gene nameGene Name - the full gene name approved by the HGNC.
Spermatogenesis associated 13
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SPATA13
SynonymsGene synonyms aliases
ARHGEF29, ASEF2
ChromosomeChromosome number
13
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q12.12
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026810 hsa-miR-192-5p Microarray 19074876
MIRT028714 hsa-miR-27a-3p Sequencing 20371350
MIRT051545 hsa-let-7e-5p CLASH 23622248
MIRT610170 hsa-miR-8485 HITS-CLIP 23824327
MIRT610169 hsa-miR-329-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 19934221
GO:0005085 Function Guanyl-nucleotide exchange factor activity IMP 17145773, 17599059
GO:0005515 Function Protein binding IPI 17145773, 17599059, 19151759
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 19151759
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q96N96
Protein name Spermatogenesis-associated protein 13 (APC-stimulated guanine nucleotide exchange factor 2) (Asef2)
Protein function Acts as a 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,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00018 SH3_1
153 198
SH3 domain
Domain
PF00621 RhoGEF
244 422
RhoGEF domain
Domain
PF00169 PH
456 558
PH domain
Domain
Sequence
MTSASPEDQNAPVGCPKGARRRRPISVIGGVSLYGTNQTEELDNLLTQPASRPPMPAHQV
PPYKAVSARFRPFTFSQSTPIGLDRVGRRRQMRASNVSSDGGTEPSALVDDNGSEEDFSY
EDLCQASPRYLQPGGEQLAINELISDGNVVCAEALWDHVTMDDQELGFKAGDVIQVLEAS
NKDWWWGRSEDKEAWFPA
SFVRLRVNQEELSENSSSTPSEEQDEEASQSRHRHCENKQQM
RTNVIREIMDTERVYIKHLRDICEGYIRQCRKHTGMFTVAQLATIFGNIEDIYKFQRKFL
KDLEKQYNKEEPHLSEIGSCFLQNQEGFAIYSEYCNNHPGACLELANLMKQGKYRHFFEA
CRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTTQEHGDYSNIKAAYEAMKNVACL
IN
ERKRKLESIDKIARWQVSIVGWEGLDILDRSSELIHSGELTKITKQGKSQQRTFFLFD
HQLVSCKKDLLRRDMLYYKGRLDMDEMELVDLGDGRDKDCNLSVKNAFKLVSRTTDEVYL
FCAKKQEDKARWLQACAD
ERRRVQEDKEMGMEISENQKKLAMLNAQKAGHGKSKGYNRCP
VAPPHQGLHPIHQRHITMPTSVPQQQVFGLAEPKRKSSLFWHTFNRLTPFRK
Sequence length 652
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Regulation of actin cytoskeleton  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autoimmune diseases Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 rs41285370, rs869025224 30595370
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 30595370, 27182965

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