Gene Gene information from NCBI Gene database.
Entrez ID 221178
Gene name Spermatogenesis associated 13
Gene symbol SPATA13
Synonyms (NCBI Gene)
ARHGEF29ASEF2
Chromosome 13
Chromosome location 13q12.12
miRNA miRNA information provided by mirtarbase database.
861
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0002102 Component Podosome IEA
GO:0002102 Component Podosome ISS
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 19934221
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613324 23222 ENSG00000182957
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 19893577
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 17599059, 19893577, 31020388
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 24514567 Associate
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 Autoimmune Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 Autoimmune Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30423315, 37559094 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 17599059
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 19525225 Associate
★☆☆☆☆
Found in Text Mining only
Differentiated Thyroid Gland Carcinoma Thyroid Carcinoma BEFREE 25029422
★☆☆☆☆
Found in Text Mining only