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FAM13A (family with sequence similarity 13 member A)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10144
Gene nameGene Name - the full gene name approved by the HGNC.
Family with sequence similarity 13 member A
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FAM13A
SynonymsGene synonyms aliases
ARHGAP48, FAM13A1
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.1
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT039722 hsa-miR-615-3p CLASH 23622248
MIRT047429 hsa-miR-10b-5p CLASH 23622248
MIRT709376 hsa-miR-4291 HITS-CLIP 19536157
MIRT709377 hsa-miR-4777-3p 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
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.
 
Reactome
    Rho GTPase cycle
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs-1, rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 22797724
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Pulmonary fibrosis Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Familial Idiopathic Pulmonary Fibrosis, Idiopathic pulmonary fibrosis rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578 28166215, 23583980
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs-1 28166215, 20173748, 21921092, 22080838, 30940143, 24621683, 25241909, 30804561, 25101718
Unknown
Disease name Disease term dbSNP ID References
Mental depression Major Depressive Disorder rs587778876, rs587778877 31164008
Alveolitis Alveolitis, Fibrosing 28166215
Diffuse interstitial pulmonary fibrosis Hamman-Rich Disease 23583980
Bronchitis Bronchitis, Chronic 25241909

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