Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10144
Gene name Gene Name - the full gene name approved by the HGNC.
Family with sequence similarity 13 member A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAM13A
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGAP48, FAM13A1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.1
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IEA
GO:0005829 Component Cytosol TAS
GO:0007165 Process Signal transduction IEA
GO:0043547 Process Positive regulation of GTPase activity IEA
GO:0051056 Process Regulation of small GTPase mediated signal transduction TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613299 19367 ENSG00000138640
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
22797724
Pulmonary fibrosis Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Familial Idiopathic Pulmonary Fibrosis, Idiopathic pulmonary fibrosis rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899
View all (1 more)
28166215, 23583980
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 28166215, 20173748, 21921092, 22080838, 30940143, 24621683, 25241909, 30804561, 25101718 ClinVar
Mental depression Major Depressive Disorder 31164008 ClinVar
Diabetes Diabetes GWAS
Pulmonary Fibrosis Pulmonary Fibrosis GWAS
Associations from Text Mining
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