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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic obstructive pulmonary disease association; Benign; Uncertain significance rs942316220, rs7671167, rs1903003, rs2609255 RCV001328406
RCV001328405
RCV001328404
RCV001788482
Combined pulmonary fibrosis-emphysema syndrome association; Uncertain significance rs2609255 RCV002472378
Interstitial lung disease 2 association; Uncertain significance rs2609255 RCV001788481
Squamous cell carcinoma Conflicting classifications of pathogenicity rs377446507 RCV003128891
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Aplastic Associate 34821370
Arthritis Rheumatoid Associate 33993221, 36717188
Asthma Associate 30604588
Carcinoma Non Small Cell Lung Associate 33919074
Cognition Disorders Associate 28137485
Connective Tissue Diseases Associate 22208759
COVID 19 Associate 40076669
Cystic Fibrosis Associate 29239766, 31803183, 31900205, 37391706
Diabetes Gestational Associate 34116986
Diabetes Mellitus Type 2 Associate 34116986