C19orf12 (chromosome 19 open reading frame 12)
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| Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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83636 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Chromosome 19 open reading frame 12 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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C19orf12 |
SynonymsGene synonyms aliases
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MPAN, NBIA3, NBIA4, SPG43 |
ChromosomeChromosome number
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19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19q12 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encodin |
SNPsSNP information provided by dbSNP.
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| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs146170087 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided, pathogenic |
Missense variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant |
| rs200133991 |
C>T |
Pathogenic, likely-pathogenic |
5 prime UTR variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant |
| rs201118405 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign |
Synonymous variant, 5 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant |
| rs201987973 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
| rs376103979 |
C>G,T |
Pathogenic, likely-pathogenic |
5 prime UTR variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant |
| rs387907173 |
A>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
| rs397514477 |
G>A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, genic downstream transcript variant, missense variant, intron variant |
| rs398122409 |
CCC>-,CC,CCCC |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, splice acceptor variant |
| rs515726204 |
GACAGCCCCCC>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs515726205 |
C>T |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
| rs752450983 |
C>A,G,T |
Likely-pathogenic, pathogenic |
5 prime UTR variant, coding sequence variant, genic downstream transcript variant, missense variant |
| rs797045423 |
TC>ACTGTTCCTCCA |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
| rs1064797235 |
G>A |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
| rs1352744778 |
T>- |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
| rs1424291552 |
C>G,T |
Pathogenic |
Synonymous variant, coding sequence variant, intron variant, 5 prime UTR variant, missense variant, genic downstream transcript variant |
| rs1555714808 |
C>T |
Likely-pathogenic |
Intron variant, coding sequence variant, stop gained, genic downstream transcript variant |
| rs1568326754 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
| rs1599534276 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
| rs1599534394 |
CTTGTCATCCA>- |
Pathogenic |
5 prime UTR variant, genic downstream transcript variant, coding sequence variant, initiator codon variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein
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| UniProt ID |
Q9NSK7 |
| Protein name |
Protein C19orf12 |
| Family and domains |
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Sequence |
MERLKSHKPATMTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPP
GLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTA
LVMGSEALQQQLLAMLVNYVTKELRAEIQYDD
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| Sequence length |
152 |
| Interactions |
View interactions |
| Associated diseases
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| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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| Neurodegeneration with brain iron accumulation |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 |
rs121918227, rs587784343, rs121908683, rs121908686, rs515726204, rs397514477, rs515726205, rs387907173, rs387907328, rs387907329, rs387907330, rs387907331, rs387907332, rs386134127, rs386134147, rs398122409, rs140709867, rs587777136, rs121908681, rs730882214, rs797045423, rs797046100, rs797046105, rs797046103, rs797046102, rs797046101, rs869312661, rs201987973, rs878855326, rs530348521, rs886039552, rs1557083958, rs886041994, rs886041382, rs886041693, rs886041381, rs1057519622, rs776936158, rs752450983, rs372350326, rs1064793294, rs1064797235, rs1131691592, rs1135401784, rs765632065, rs915291720, rs1557083878, rs1557084113, rs1557084066, rs1557084120, rs1557083830, rs1557084491, rs1557084239, rs782557596, rs758014228, rs1569263730, rs1569523537, rs1569523502, rs1569523468, rs1567904066, rs766482965, rs1424291552, rs1569523565, rs1569523562, rs1568326754, rs1602539322, rs1599534276, rs1599534394, rs1597713743, rs1282370486, rs1602537159, rs781972464, rs781978699, rs1602538385, rs1602540595, rs1602538148, rs1602538372, rs1602539140, rs1602538379, rs776713955, rs1602538023, rs1602540211, rs1602540331, rs1602540060, rs1602540295, rs2065026878, rs2065034268, rs2065045334, rs2065045650, rs2065032149, rs2065045269 |
23269600, 21981780, 22704260, 22584950, 23857908, 27604308, 23278385, 26187298, 20039086, 25592411, 22508347, 24209434, 23166001, 23436634, 26539891, 28347615, 26136767, 23521069, 23494994 |
| Optic atrophy |
Optic Atrophy |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 |
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| Ovarian cancer |
Malignant neoplasm of ovary |
rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393 |
21397856 |
| Parkinson disease |
Parkinsonian Disorders |
rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 |
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| Spastic paraplegia |
Spastic Paraplegia, Spastic Paraplegia, Hereditary, SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, Autosomal recessive spastic paraplegia type 43 |
rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464 |
28832565, 20039086, 26187298, 23269600, 23857908, 26539891, 21981780, 23494994, 22584950 |
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| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Bowel incontinence |
Fecal Incontinence |
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| Dementia |
Dementia |
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| Distal amyotrophy |
Distal amyotrophy |
rs1457770815 |
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| Dysarthria |
Dysarthria |
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| Dysphagia |
Deglutition Disorders |
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| Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
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| Mitochondrial membrane protein-associated neurodegeneration |
Mitochondrial membrane protein-associated neurodegeneration |
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| Mood swings |
Mood swings |
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| Night blindness |
Adult-onset night blindness |
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| Ovarian neoplasm |
ovarian neoplasm |
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21397856 |
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