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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SPATA13-related disorder Uncertain significance; Benign; Likely benign rs145716754, rs146799878, rs543934868, rs369711697, rs35768526, rs41314440, rs1220545, rs145656991, rs80073311, rs150850951, rs578230480, rs1875993202, rs577073449, rs11842597, rs142906131
View all (8 more)
RCV003953986
RCV003921917
RCV003924032
RCV003929842
RCV003974585
RCV003964495
RCV003912289
RCV003977049
RCV003982301
RCV003941809
RCV003934008
RCV003934013
RCV003959636
RCV003939463
RCV003951608
RCV003951626
RCV003949778
RCV003949867
RCV003914573
RCV003939291
RCV003941361
RCV003942173
RCV003979256
Associations from Text MiningDisease associations identified through Pubtator
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