Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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221178 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Spermatogenesis associated 13 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SPATA13 |
SynonymsGene synonyms aliases
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ARHGEF29, ASEF2 |
ChromosomeChromosome number
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13 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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13q12.12 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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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.
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Associated diseases
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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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