NBAS (NBAS subunit of NRZ tethering complex)
|
| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
51594 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
NBAS subunit of NRZ tethering complex |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
NBAS |
SynonymsGene synonyms aliases
|
ILFS2, NAG, SOPH |
ChromosomeChromosome number
|
2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2p24.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs75566418 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
| rs140256463 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant |
| rs143212851 |
A>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant |
| rs143724414 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant |
| rs199717686 |
T>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs201084909 |
T>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs368085185 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, missense variant, coding sequence variant, genic upstream transcript variant |
| rs368196005 |
A>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs369698072 |
C>A,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs370526257 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
| rs748880753 |
T>C,G |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant |
| rs759315662 |
->A |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs759960319 |
G>A,C |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained |
| rs761330483 |
G>A,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, stop gained |
| rs764164808 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant |
| rs770446752 |
C>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant |
| rs776597537 |
C>G,T |
Pathogenic |
Synonymous variant, non coding transcript variant, coding sequence variant, intron variant |
| rs776797592 |
T>-,TT |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs796052121 |
A>G |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs796065037 |
TCA>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, inframe deletion |
| rs796065038 |
GAG>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, inframe deletion |
| rs1064795199 |
G>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant |
| rs1064795471 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant |
| rs1085307944 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1131692171 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, stop gained |
| rs1278049478 |
G>A,C |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, stop gained |
| rs1553308501 |
A>C |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1553348090 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
| rs1553367857 |
G>T |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1572903776 |
C>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant |
| rs1573008071 |
C>T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
| Protein
|
| UniProt ID |
A2RRP1 |
| Protein name |
NBAS subunit of NRZ tethering complex (Neuroblastoma-amplified gene protein) (Neuroblastoma-amplified sequence) |
| Protein function |
Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418). Required for normal em |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF15492 |
Nbas_N |
90 → 371 |
Neuroblastoma-amplified sequence, N terminal |
Family |
| PF08314 |
Sec39 |
726 → 1054 |
Secretory pathway protein Sec39 |
Family |
| PF08314 |
Sec39 |
1014 → 1376 |
Secretory pathway protein Sec39 |
Family |
|
Sequence |
|
| Sequence length |
2371 |
| 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.
|
|
| Associated diseases
|
| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| Achromatopsia |
Achromatopsia |
rs121918344, rs267606739, rs397515360, rs121918537, rs121918538, rs786200908, rs796051871, rs121918539, rs387906401, rs267606936, rs786200909, rs786200910, rs267606934, rs267606937, rs267606935, rs786200911, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs121434585, rs2101121827, rs146640460, rs199474697, rs372006750, rs786204762, rs373862340, rs773372519, rs768345097, rs201794629, rs786204492, rs786204498, rs150115958, rs753625117, rs786205532, rs869320751, rs761357250, rs796065053, rs797045170, rs797045171, rs797045173, rs797045174, rs761129859, rs797045172, rs757470958, rs552069173, rs777509481, rs886063161, rs745557293, rs1057517388, rs1057517454, rs1057516571, rs1057516504, rs1057516825, rs1057516878, rs1057516866, rs1057517167, rs1057517052, rs1057517053, rs748993388, rs1057516791, rs1057517434, rs1057516782, rs376711003, rs1057518098, rs775796581, rs1554604525, rs1554604767, rs1554604833, rs1362472371, rs1554604851, rs1375507464, rs1554607546, rs1554607553, rs964530890, rs1554608319, rs772725807, rs1554609946, rs1554609956, rs768735888, rs773381712, rs999921351, rs373270306, rs201320564, rs1554610279, rs1554610284, rs35010099, rs1026427970, rs1554610655, rs776896038, rs372302139, rs1554610668, rs775038513, rs765574129, rs764742792, rs1385347376, rs1554611860, rs1554612145, rs1554612159, rs1554612805, rs1554612806, rs1201521544, rs1554613998, rs371318766, rs1554614024, rs1554614022, rs6471482, rs1554614038, rs1391492794, rs1174949911, rs1554614131, rs1554614157, rs1554614423, rs1554618404, rs1554618413, rs1554618417, rs1554618420, rs1052078370, rs1554619292, rs1554619303, rs1554619498, rs1554619500, rs1554619509, rs1442286151, rs1554619513, rs1554619514, rs765383904, rs200805087, rs1554888858, rs1554888861, rs1023522305, rs1554890513, rs1554888353, rs756324901, rs1554888848, rs757622521, rs1554888978, rs1554889905, rs1028838062, rs762773298, rs141386891, rs1553450762, rs138958917, rs1553450764, rs1553227755, rs745308973, rs1554609943, rs1554614402, rs1554609978, rs1554604775, rs1554607548, rs1558820471, rs1558022158, rs1558811557, rs1557917535, rs748981899, rs1557917899, rs1557918619, rs1557918635, rs1557918911, rs1403825722, rs1557920291, rs146606352, rs1557918544, rs1557918638, rs777878533, rs1558820134, rs1000861056, rs998703203, rs1585942791, rs750257554, rs374258471, rs1571134523, rs778114016, rs763041373, rs1571143590, rs1570562309, rs1574385431, rs1574390600, rs1464167194, rs1574391103, rs781227859, rs770786127, rs1586003680, rs1233466909, rs1586047969, rs766703340, rs1692739030, rs1692898861, rs371558158, rs1823261605, rs1330263985, rs1574390811, rs1692509021, rs749842881, rs1692921014, rs757167624, rs201782746, rs761969118, rs1823778696, rs1692508715, rs761554853, rs1227761587, rs201747279, rs183838250 |
|
| Brachydactyly |
Brachydactyly |
rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142 |
|
| Cutis laxa |
Cutis Laxa |
rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322 |
|
| 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 |
27789416 |
| Gastric cancer |
Hereditary Diffuse Gastric Cancer |
rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208 |
21364753 |
| Liver failure |
Liver Failure, Acute, INFANTILE LIVER FAILURE SYNDROME 2 |
rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 |
26073778, 26286438, 28576691 |
| 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 |
|
| Short stature-optic atrophy-pelger-huet anomaly syndrome |
Short stature-optic atrophy-Pelger-Huët anomaly syndrome |
rs369698072, rs796052121, rs1131692171, rs776597537 |
|
|
| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Blood coagulation disorders |
Blood Coagulation Disorders |
|
|
| Brachycephaly |
Brachycephaly |
|
|
| Congenital epicanthus |
Congenital Epicanthus |
|
|
| Dwarfism |
Dwarfism |
|
|
| Hepatic encephalopathy |
Hepatic Encephalopathy |
|
|
| Hypoglycemia |
Hypoglycemia |
|
|
| Immunologic deficiency syndromes |
Immunologic Deficiency Syndromes |
|
27789416 |
| Mental depression |
Major Depressive Disorder |
rs587778876, rs587778877 |
29662059 |
| Micromelia |
Micromelia |
|
|
| Proptosis |
Exophthalmos |
|
|
| Short stature, optic nerve atrophy, and pelger-huet anomaly |
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY |
|
20577004, 26073778, 27789416 |
| Stomach neoplasms |
Malignant neoplasm of stomach, Stomach Neoplasms |
|
21364753 |
|
|
|
