Gene Gene information from NCBI Gene database.
Entrez ID 10144
Gene name Family with sequence similarity 13 member A
Gene symbol FAM13A
Synonyms (NCBI Gene)
ARHGAP48FAM13A1
Chromosome 4
Chromosome location 4q22.1
miRNA miRNA information provided by mirtarbase database.
293
miRTarBase ID miRNA Experiments Reference
MIRT047429 hsa-miR-10b-5p CLASH 23622248
MIRT039722 hsa-miR-615-3p CLASH 23622248
MIRT709380 hsa-miR-3908 HITS-CLIP 19536157
MIRT709379 hsa-miR-545-3p HITS-CLIP 19536157
MIRT709378 hsa-miR-558 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS
GO:0005829 Component Cytosol TAS
GO:0007165 Process Signal transduction IEA
GO:0051056 Process Regulation of small GTPase mediated signal transduction TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613299 19367 ENSG00000138640
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94988
Protein name Protein FAM13A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00620 RhoGAP 59 209 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is widely expressed, with highest expression in skeletal muscle, thymus, brain and lung. Isoform 3 is less abundant than isoform 1 and predominantly expressed in kidney, pancreas, liver, lung and thymus. {ECO:0000269|PubMed:1
Sequence
MGAGALAICQSKAAVRLKEDMKKIVAVPLNEQKDFTYQKLFGVSLQELERQGLTENGIPA
VVWNIVEYLTQHGLTQEGLFRVNGNVKVVEQLRLKFESGVPVELGKDGDVCSAASLLKLF
LRELPDSLITSALQPRFIQLFQDGRNDVQESSLRDLIKELPDTHYCLLKYLCQFLTKVAK
HHVQNRMNVHNLATVFGPNCFHVPPGLEG
MKEQDLCNKIMAKILENYNTLFEVEYTENDH
LRCENLARLIIVKEVYYKNSLPILLTRGLERDMPKPPPKTKIPKSRSEGSIQAHRVLQPE
LSDGIPQLSLRLSYRKACLEDMNSAEGAISAKLVPSSQEDERPLSPFYLSAHVPQVSNVS
ATGELLERTIRSAVEQHLFDVNNSGGQSSEDSESGTLSASSATSARQRRRQSKEQDEVRH
GRDKGLINKENTPSGFNHLDDCILNTQEVEKVHKNTFGCAGERSKPKRQKSSTKLSELHD
NQDGLVNMESLNSTRSHERTGPDDFEWMSDERKGNEKDGGHTQHFESPTMKIQEHPSLSD
TKQQRNQDAGDQEESFVSEVPQSDLTALCDEKNWEEPIPAFSSWQRENSDSDEAHLSPQA
GRLIRQLLDEDSDPMLSPRFYAYGQSRQYLDDTEVPPSPPNSHSFMRRRSSSLGSYDDEQ
EDLTPAQLTRRIQSLKKKIRKFEDRFEEEKKYRPSHSDKAANPEVLKWTNDLAKFRRQLK
ESKLKISEEDLTPRMRQRSNTLPKSFGSQLEKEDEKKQELVDKAIKPSVEATLESIQRKL
QEKRAESSRPEDIKDMTKDQIANEKVALQKALLYYESIHGRPVTKNERQVMKPLYDRYRL
VKQILSRANTIPIIGSPSSKRRSPLLQPIIEGETASFFKEIKEEEEGSEDDSNVKPDFMV
TLKTDFSARCFLDQFEDDADGFISPMDDKIPSKCSQDTGLSNLHAASIPELLEHLQEMRE
EKKRIRKKLRDFEDNFFRQNGRNVQKEDRTPMAEEYSEYKHIKAKLRLLEVLISKRDTDS
KSM
Sequence length 1023
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic obstructive pulmonary disease association; Benign; Uncertain significance ClinVar
GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASDB_DG 22797724
★☆☆☆☆
Found in Text Mining only
Alveolitis, Fibrosing Alveolitis CTD_human_DG 28166215
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 34821370 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 33993221, 36717188 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 21397937, 30604588, 31148503
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 30604588 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31215377
★☆☆☆☆
Found in Text Mining only
Bronchiectasis Bronchiectasis HPO_DG
★☆☆☆☆
Found in Text Mining only
Bronchitis, Chronic Gastric Cancer BEFREE 25241909
★☆☆☆☆
Found in Text Mining only
Bronchitis, Chronic Gastric Cancer GWASCAT_DG 25241909
★☆☆☆☆
Found in Text Mining only