ETFA (electron transfer flavoprotein subunit alpha)

Gene

• Entrez ID: 2108
• Gene name: Electron transfer flavoprotein subunit alpha
• Gene symbol: ETFA
• Synonyms (NCBI Gene): EMA, GA2, MADD
• Chromosome: 15
• Chromosome location: 15q24.2-q24.3
• Summary: ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs119458969	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs119458970	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs119458971	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs140169311	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs199673198	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs199763682	G>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs727503918	A>G	Pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, initiator codon variant, missense variant
rs749929239	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs754202690	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs769976586	G>A	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs1298299792	AC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1475984278	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant
rs1596218695	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052043	hsa-let-7b-5p	CLASH	23622248
MIRT050733	hsa-miR-18a-5p	CLASH	23622248
MIRT050284	hsa-miR-25-3p	CLASH	23622248
MIRT049145	hsa-miR-92a-3p	CLASH	23622248
MIRT971541	hsa-miR-219-5p	CLIP-seq
MIRT971542	hsa-miR-369-3p	CLIP-seq
MIRT971543	hsa-miR-374a	CLIP-seq
MIRT971544	hsa-miR-374b	CLIP-seq
MIRT971545	hsa-miR-4276	CLIP-seq
MIRT971546	hsa-miR-4445	CLIP-seq
MIRT971547	hsa-miR-4677-3p	CLIP-seq
MIRT971548	hsa-miR-4679	CLIP-seq
MIRT971549	hsa-miR-4719	CLIP-seq
MIRT971550	hsa-miR-4782-3p	CLIP-seq
MIRT971551	hsa-miR-508-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24606901, 27499296, 28380382
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0009055	Function	Electron transfer activity	IBA	21873635
GO:0009055	Function	Electron transfer activity	IDA	10423253, 25416781
GO:0016491	Function	Oxidoreductase activity	IDA	9334218, 10423253
GO:0022904	Process	Respiratory electron transport chain	TAS
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA	21873635
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	25416781
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA	21873635
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	9334218, 10423253

Other IDs

• MIM: 608053
• HGNC: 3481
• e!Ensembl: ENSG00000140374

Protein

• UniProt ID: P13804
• Protein name: Electron transfer flavoprotein subunit alpha, mitochondrial (Alpha-ETF)
• Protein function: Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:10356313, PubMed:15159392, PubMed:15975918, PubMed
• PDB: 1EFV, 1T9G, 2A1T, 2A1U
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01012	ETF	22 → 197	Electron transfer flavoprotein domain	Domain
  PF00766	ETF_alpha	210 → 293	Electron transfer flavoprotein FAD-binding domain	Domain

• Sequence:

  MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKC
  DKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLL
  PRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSG
  GSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQ
  LHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAIN
  KDPEAPIFQVADYGIVADLFKVVPEMTEILKKK

• Sequence length: 333

Pathways

Reactome:

Respiratory electron transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066
Glioma	Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	28346443, 26424050
Glutaric acidemia	GLUTARIC ACIDEMIA IIA	rs104894677, rs2123572141, rs387907170, rs377656387	27604308
Glutaric aciduria	Glutaric Aciduria IIA, Glutaric Aciduria IIB	rs121434366, rs121434367, rs121434371, rs121434368, rs121434369, rs121434370, rs952356983, rs121434372, rs121434373, rs398123195, rs147611168, rs142967670, rs786204639, rs755586631, rs139851890, rs777201305, rs786204627, rs766518430, rs768925619, rs150938052, rs786204626, rs776082304, rs786205862, rs786205861, rs141437721, rs372983141, rs199999619, rs149120354, rs869025300, rs869025299, rs752127949, rs878853154, rs878853153, rs878853244, rs1057516939, rs1057516522, rs1006150317, rs1057517088, rs1057516521, rs898043081, rs768836114, rs752334462, rs1057516855, rs1057516715, rs749452002, rs1057516899, rs1057516344, rs761491320, rs1057517410, rs1057517407, rs778153326, rs754002357, rs758503371, rs200639270, rs779315456, rs566417795, rs1131692030, rs761765983, rs781477694, rs775606471, rs754312389, rs1025558859, rs748275416, rs1555749434, rs775103982, rs1555750535, rs745852738, rs1176799813, rs1405935475, rs751583656, rs1230368107, rs1197426645, rs1555749239, rs1555749369, rs758137643, rs1555750542, rs794726972, rs764608975, rs1555751109, rs1555751995, rs1273164833, rs1555749853, rs964724051, rs933624223, rs1555750580, rs752234195, rs1555751089, rs1008834111, rs1260580183, rs1568429137, rs1203022386, rs771924230, rs1568429257, rs1568427678, rs576948027, rs1599618968, rs1599619080, rs772654647, rs1599619180, rs1599616676, rs1970564149, rs776758971, rs1970604182, rs1970608600, rs1173575355, rs1970675055, rs367699815, rs1864390545, rs1257292639, rs1970719648
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Multiple acyl-coa dehydrogenase deficiency	Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Multiple acyl-CoA dehydrogenase deficiency, mild type, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	rs119458969, rs119458970, rs119458971, rs121964953, rs2147483647, rs121964954, rs121964955, rs121964956, rs104894677, rs387907170, rs377656387, rs398124151, rs398124152, rs727503919, rs796051964, rs377686388, rs796051961, rs796051962, rs796051965, rs796051963, rs796051959, rs558005496, rs796051960, rs863224869, rs876661314, rs876661313, rs876661315, rs876661312, rs876661310, rs876661311, rs876661309, rs771466122, rs878853006, rs878853082, rs767795266, rs761669036, rs199763682, rs751821289, rs200920510, rs549150456, rs769976586, rs779896449, rs369711837, rs746598421, rs141407224, rs1298299792, rs1466787789, rs917285990, rs767046886, rs773668457, rs1172887273, rs1561251640, rs767249944, rs1561247874, rs199899494, rs780015493, rs779253471, rs1580422708, rs1580425904, rs1596218695, rs754202690, rs1580415323, rs1475984278, rs766066977, rs199979286, rs371493232, rs1580406119, rs1580423432, rs1469053638, rs1773877563, rs763541530, rs1235904433, rs1774344831, rs1774519872, rs1174882036, rs1774616485, rs1774630121, rs1774633192, rs1209473816, rs1774518252, rs2039698086, rs1384386872	12815589, 25929793, 1430199, 20023066, 1882842, 16510302, 9334218, 18289905, 20736750, 15159392, 23785301, 26409463
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096, rs199476097, rs199476098, rs1218054241, rs1567192790, rs1567204631, rs199476100, rs199476101, rs199476102, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs376586707, rs398122932, rs398123308, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs724159823, rs141178995, rs724159826, rs368263958, rs727504089, rs727504096, rs746838237, rs727504087, rs786204241, rs200391019, rs746471701, rs771623148, rs148617572, rs786204688, rs181208607, rs200179145, rs142107837, rs786204707, rs745770404, rs786204696, rs749293235, rs754392766, rs786204749, rs786204588, rs148812376, rs752868449, rs773136605, rs797044713, rs794727566, rs794727572, rs771180444, rs794727680, rs797044745, rs794727759, rs781368899, rs796052133, rs797045101, rs797044902, rs863224528, rs751527253, rs869312944, rs869312977, rs869312978, rs886039888, rs886040959, rs58606740, rs770461067, rs886041836, rs886042676, rs748365248, rs760222236, rs886061616, rs886061619, rs886061623, rs1057516041, rs1057516201, rs1057516202, rs1057516206, rs1057517324, rs199839578, rs1057517047, rs1057516652, rs1057516345, rs1057517326, rs1057516835, rs1057517249, rs760260903, rs1057517071, rs757099749, rs1057517357, rs751754608, rs1057516577, rs1057516445, rs1057516413, rs1057517387, rs1057517244, rs749768205, rs1057516775, rs1057516490, rs1057516607, rs1057516690, rs1057517078, rs1057516751, rs1057516588, rs1057516596, rs1057516221, rs1057516441, rs760921148, rs1057516706, rs1057517378, rs1057516804, rs1057516407, rs777999875, rs774759689, rs1057516692, rs1057516885, rs267601070, rs1057516626, rs1057516263, rs1057516691, rs1057516382, rs778537772, rs1057516594, rs1057517273, rs1057516762, rs1057516982, rs1057516922, rs774250209, rs1057516872, rs1057516283, rs1057517394, rs1057516562, rs1057516709, rs1057517158, rs1057516608, rs1057516975, rs1057517178, rs1057516768, rs757521428, rs1057516697, rs1057517270, rs773991918, rs1057517220, rs1057518604, rs1057518906, rs1057518797, rs1057518969, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1057518923, rs180675584, rs1057524563, rs200001068, rs1553924174, rs1060499718, rs369825780, rs1060499704, rs1060499702, rs539793378, rs1060499699, rs1060503526, rs751084512, rs369925690, rs1060501356, rs1064796287, rs1064794206, rs1064797205, rs1114167370, rs1114167366, rs1555452653, rs1020621286, rs1131692280, rs1135401753, rs555349004, rs1135402754, rs1135402755, rs1135402756, rs757946548, rs1555455453, rs1555456661, rs1553924173, rs1553925470, rs1210846081, rs1554218506, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs777460677, rs1555450424, rs1555451093, rs1555451280, rs1222094213, rs1555453360, rs752114168, rs1555453872, rs1555454145, rs1555454411, rs1555454512, rs1555454604, rs1555455998, rs747483368, rs750798165, rs1553928730, rs1554282540, rs1555446053, rs745912756, rs1555447196, rs1453883641, rs1555454886, rs1555457482, rs1553923513, rs867092741, rs1555446576, rs1555454353, rs1555456139, rs1555457446, rs1555458032, rs1555462463, rs1555450968, rs1555444715, rs1261505725, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1555444985, rs1161012209, rs1555445274, rs1555445771, rs1555446411, rs1555451143, rs1555451430, rs1555453395, rs1555455457, rs1555456208, rs1555459108, rs1555462438, rs1555445999, rs1555457807, rs1553927436, rs1555454373, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs1554194574, rs1344820986, rs1246693314, rs1554167673, rs1554183398, rs1554183559, rs1554144359, rs1555444249, rs1555450475, rs1555448106, rs1555446033, rs1555454915, rs1286585831, rs780009030, rs201082169, rs1555728990, rs1554204054, rs1554212326, rs910497248, rs1554198072, rs1555453207, rs1554223950, rs1554220431, rs1555454460, rs367678592, rs1555447011, rs1553925459, rs1553925467, rs1554236269, rs1554263076, rs1555445585, rs1555446582, rs1555446637, rs1555447057, rs1420757773, rs1555450920, rs762003393, rs1555454075, rs1555454606, rs1555455797, rs1555456744, rs1401015526, rs1555459001, rs1555459084, rs1282205691, rs1553927823, rs777269070, rs369678636, rs1555454739, rs1302726543, rs1554198780, rs758732107, rs747322128, rs1554200780, rs1358948221, rs1555452400, rs144193508, rs1488844530, rs1554169567, rs1554174796, rs1554176343, rs1554183235, rs1554183240, rs1554216538, rs770068023, rs1554221465, rs1554232224, rs1334913120, rs1554191298, rs1554194504, rs770522674, rs1554197152, rs868673401, rs1554210085, rs1554213853, rs1554227278, rs1554228601, rs1554183012, rs1554183763, rs765209037, rs1554217691, rs1554218666, rs759851475, rs1554174903, rs1554176517, rs1554183204, rs1554243821, rs1554289495, rs1554183320, rs1554133736, rs1554218519, rs1554218926, rs1405067373, rs1351918391, rs1554199349, rs1160209891, rs1554183446, rs1554183480, rs1554183588, rs1554208257, rs1554209188, rs1554216499, rs1554271235, rs1554223403, rs1554282419, rs1554224707, rs1554227162, rs1554216571, rs1554229312, rs1554299291, rs376987651, rs1340926191, rs1554132790, rs1554194511, rs1554270880, rs1554198717, rs1554199226, rs1554200778, rs1240212722, rs776060304, rs747895516, rs1554134080, rs1554211308, rs758352210, rs1554212403, rs748540413, rs1554207834, rs750730042, rs1554219449, rs753492974, rs1554222939, rs1554219429, rs1554222508, rs775511838, rs1555452849, rs1554162725, rs1554227215, rs1567155145, rs1567159074, rs1567177684, rs1567200516, rs1567173924, rs1324209174, rs1485297878, rs1560626561, rs1264176877, rs2432403, rs1560626499, rs1567176750, rs1567180640, rs752024467, rs1567204146, rs1567153758, rs1567210630, rs1352019198, rs555242193, rs1567195059, rs1371793191, rs1616940, rs1567212531, rs1567186165, rs749004212, rs1167476946, rs1567215646, rs755496450, rs1567195285, rs1567169638, rs1391596181, rs1561920869, rs764696718, rs146649803, rs1560592253, rs1561921358, rs775638588, rs1560632930, rs1567153194, rs1197421698, rs1567166045, rs1567174997, rs1567180636, rs1567186946, rs1567191601, rs1567191609, rs1567192229, rs1567200117, rs1567202750, rs778028967, rs1567210080, rs775710328, rs750723025, rs1567191179, rs1567219527, rs1562221540, rs769559267, rs868562051, rs752305132, rs760426769, rs1562581286, rs1560608729, rs1560620277, rs1560628245, rs1567146946, rs1567165997, rs750780241, rs1567202350, rs1567206904, rs1567216323, rs1567219111, rs1377414968, rs1578144898, rs778235410, rs1181168635, rs1567155179, rs1361283193, rs1364976535, rs1567182193, rs1567184366, rs1567187445, rs1567191534, rs1567196314, rs1567201083, rs774453006, rs144513458, rs1567192286, rs1567190244, rs773129632, rs1560617356, rs1273202231, rs1567196052, rs1325403863, rs1592341222, rs199568593, rs765390756, rs780182068, rs148300854, rs765652131, rs1562140771, rs779050294, rs557437764, rs1485161784, rs752327566, rs1578130597, rs1578135829, rs1582469538, rs1582470309, rs1596472276, rs1596473420, rs1596485727, rs200001471, rs1596557533, rs1205064584, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs200432861, rs1581808463, rs1581827172, rs367707903, rs764431330, rs1596512729, rs1596520985, rs1596522636, rs1596523677, rs757768731, rs750913623, rs1596557065, rs1596558405, rs1238351274, rs1567200098, rs1596560540, rs1596575646, rs1596591955, rs1583202788, rs753471298, rs1596536505, rs112915100, rs1581812192, rs1596525695, rs1596551138, rs1578135823, rs1578111620, rs1334145215, rs1582436832, rs1242089464, rs775628123, rs1583013487, rs1583053996, rs1583054534, rs1581727260, rs1581806935, rs767737392, rs1581956689, rs1278235097, rs754038777, rs1582064844, rs1295732689, rs1596536546, rs145877597, rs1581910835, rs1203260419, rs1581999471, rs1596475487, rs747638599, rs1596557266, rs34495017, rs1596561773, rs1596574774, rs1174034883, rs1596580483, rs794727756, rs1578111345, rs1578135870, rs1276594505, rs1596481464, rs1596501760, rs377029031, rs138871063, rs1596548114, rs1596556800, rs202110519, rs555703777, rs1596582948, rs1582441668, rs1596482597, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs756212622, rs1596480112, rs1327414405, rs1596488823, rs1596503384, rs1596514027, rs1596527579, rs1555453244, rs1312494071, rs1596553527, rs1596556375, rs1596557742, rs145263744, rs1596563657, rs1596588978, rs1581910796, rs754626014, rs1183281205, rs752889346, rs765020336, rs1582479341, rs779168950, rs746625317, rs1582925274, rs1583203255, rs1581726525, rs1581763359, rs908880474, rs1464962854, rs1226122841, rs1581810497, rs1581974348, rs780898021, rs1581992845, rs1582002018, rs1582013246, rs1582053820, rs1582085757, rs1350620976, rs1582154630, rs1596574987, rs1578111378, rs1578141765, rs1446729264, rs764447736, rs1578118371, rs1578142941, rs1596485991, rs1596514864, rs1596527744, rs1596566156, rs1416011785, rs747170980, rs1768958447, rs765934021, rs1772510920, rs1785437689, rs1790936941, rs1473182306, rs1436814142, rs1782064827, rs1782629977, rs774290802, rs1313206550, rs779028446, rs1433540169, rs1802073525, rs1802504786, rs1802523270, rs1805754682, rs776845008, rs1809305398, rs1810924520, rs1781631365, rs1803834984, rs774050795, rs2092203712, rs1452322332, rs753261451, rs2092939625, rs1726231891, rs1726245372, rs1726673986, rs1727326556, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs2091395464, rs2091400717, rs2091472604, rs2091483332, rs1555445229, rs2091600536, rs2091614437, rs2091619053, rs2091620763, rs2091668243, rs2092026801, rs2092206577, rs779516086, rs151308544, rs2092301272, rs778979740, rs2092333316, rs2092341848, rs2092343570, rs2092347343, rs765688834, rs546354639, rs1485307916, rs762911981, rs2092458566, rs2092471431, rs2047525622, rs2092479999, rs2092485909, rs2092503169, rs2092503653, rs755084885, rs1231492796, rs2092598385, rs2092604612, rs2092615974, rs2092660457, rs2092665584, rs2092667308, rs2092672595, rs2092679105, rs2092683596, rs2092941253, rs2091453268, rs2091612821, rs2092263886, rs2092614697, rs2092646077, rs2092684358
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	22491018

Unknown
Disease term	Disease name	Evidence	References	Source
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Multiple Acyl-CoA Dehydrogenase Deficiency	multiple acyl-CoA dehydrogenase deficiency			GenCC
Alzheimer disease	Alzheimer disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Atherosclerosis	Associate	38556340
Carcinoma Renal Cell	Stimulate	19364692
Glioma	Associate	36541697
Hypertension	Associate	38556340
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	1430199, 1882842, 19208393, 25200064, 31996215, 32804429, 34573316, 35734957, 39273584, 8962055
Muscular Dystrophies	Associate	24920607
Neoplasms	Associate	27808478