Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
221178
Gene name Gene Name - the full gene name approved by the HGNC.
Spermatogenesis associated 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPATA13
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGEF29, ASEF2
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q12.12
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613324 23222 ENSG00000182957
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
Tissue specificity 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:0
Sequence
MTSASPEDQNAPVGCPKGARRRRPISVIGGVSLYGTNQTEELDNLLTQPASRPPMPAHQV
PPYKAVSARFRPFTFSQSTPIGLDRVGRRRQMRASNVSSDGGTEPSALVDDNGSEEDFSY
EDLCQASPRYLQPGGEQLAINELISDGNVVCAEALWDHVTMDDQELGFKAGDVIQVLEAS
NKDWWWGRSEDKEAWFPA
SFVRLRVNQEELSENSSSTPSEEQDEEASQSRHRHCENKQQM
RTNVIREIMDTERVYIKHLRDICEGYIRQCRKHTGMFTVAQLATIFGNIEDIYKFQRKFL
KDLEKQYNKEEPHLSEIGSCFLQNQEGFAIYSEYCNNHPGACLELANLMKQGKYRHFFEA
CRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTTQEHGDYSNIKAAYEAMKNVACL
IN
ERKRKLESIDKIARWQVSIVGWEGLDILDRSSELIHSGELTKITKQGKSQQRTFFLFD
HQLVSCKKDLLRRDMLYYKGRLDMDEMELVDLGDGRDKDCNLSVKNAFKLVSRTTDEVYL
FCAKKQEDKARWLQACAD
ERRRVQEDKEMGMEISENQKKLAMLNAQKAGHGKSKGYNRCP
VAPPHQGLHPIHQRHITMPTSVPQQQVFGLAEPKRKSSLFWHTFNRLTPFRK
Sequence length 652
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Regulation of actin cytoskeleton  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autoimmune diseases Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 rs869025224 30595370
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
30595370, 27182965
Unknown
Disease term Disease name Evidence References Source
Angle closure glaucoma primary angle-closure glaucoma GenCC
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 17145773
Anorexia Nervosa Associate 24514567
Breast Neoplasms Associate 30423315, 37559094
Carcinoma Signet Ring Cell Associate 36779496
Colorectal Neoplasms Associate 19525225
Glaucoma Angle Closure Associate 32339198
Jacobs syndrome Associate 32339198
Keratoconus Associate 36811882
Meningioma Associate 32949309
Neoplasms Associate 24874604, 30423315, 32949309