DYNLT2B (dynein light chain Tctex-type 2B)
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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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255758 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Dynein light chain Tctex-type 2B |
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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DYNLT2B |
SynonymsGene synonyms aliases
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SRTD17, TCTEX1D2 |
ChromosomeChromosome number
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3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q29 |
SummarySummary of gene provided in NCBI Entrez Gene.
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Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transp |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs771373235 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs886039815 |
T>A |
Pathogenic |
Intron variant |
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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 |
Q8WW35 |
Protein name |
Dynein light chain Tctex-type protein 2B (Tctex1 domain-containing protein 2) |
Protein function |
Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intrafl |
PDB |
8J07
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8RGI
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03645 |
Tctex-1 |
43 → 140 |
Tctex-1 family |
Family |
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Sequence |
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Sequence length |
142 |
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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Asphyxiating thoracic dystrophy |
Saldino-Noonan Syndrome, Asphyxiating Thoracic Dystrophy 1 |
rs137853115, rs137853025, rs1565310938, rs137853028, rs137853029, rs137853030, rs137853031, rs137853032, rs431905499, rs137853033, rs137853034, rs137853035, rs431905500, rs483352907, rs387906980, rs387906982, rs185089786, rs387907060, rs397514637, rs431905507, rs138004478, rs786205645, rs794727944, rs780539887, rs201948500, rs769975073, rs374356079, rs879255656, rs879255655, rs864622358, rs200460601, rs755883373, rs754919042, rs886039815, rs886039812, rs758522600, rs886039795, rs201037487, rs771487311, rs1043384862, rs562139820, rs771003300, rs552436294, rs943680446, rs431905497, rs368631447, rs759086770, rs775836730, rs1456300819, rs1554478948, rs1554770620, rs1554771066, rs555339053, rs896105030, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555051720, rs745870321, rs1555052524, rs901629870, rs1555054771, rs1461272672, rs780855765, rs1555060411, rs1243999036, rs1555060940, rs1555061228, rs747348765, rs1322884865, rs1555062340, rs1555063811, rs537704873, rs1386343205, rs762588952, rs1350329646, rs1555064376, rs1555066796, rs200614421, rs964711006, rs1196317554, rs747857715, rs1214801816, rs371940321, rs1555068270, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1555077194, rs780600124, rs1261505725, rs200710887, rs181011657, rs1555082470, rs1453448143, rs369658526, rs766816050, rs756811136, rs368654019, rs1223907858, rs759549373, rs760214276, rs1565317399, rs1565329461, rs767846762, rs1565359085, rs751891969, rs1565390180, rs1384888093, rs1565394086, rs1565438488, rs561778796, rs373536938, rs767206815, rs371932985, rs372878677, rs1577822861, rs1327583103, rs1862810311 |
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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 |
26044572 |
Polydactyly |
Polydactyly |
rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987 |
26044572 |
Short rib-polydactyly syndrome |
Short Rib-Polydactyly Syndrome |
rs387907085, rs431905505, rs886037869, rs886037870, rs886044119, rs765513105, rs769724508, rs1555369050, rs1553324519, rs200335504, rs751222088, rs576969206, rs1037828930, rs1360128571, rs547679833, rs868310475, rs1050086118, rs1558342399, rs767206815 |
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Short-rib thoracic dysplasia with or without polydactyly |
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY |
rs137852924, rs794726665, rs121908425, rs387906890, rs483352906, rs199689137, rs431905508, rs587777064, rs587777065, rs587777066, rs149614625, rs587777078, rs587777079, rs587777081, rs587777082, rs587777084, rs587777085, rs587777086, rs587777091, rs587777092, rs587777093, rs587777094, rs587777095, rs431905519, rs587777097, rs587777098, rs367600930, rs786205645, rs794727032, rs794727285, rs139021548, rs199947197, rs797045119, rs762081862, rs201948500, rs769975073, rs374356079, rs879255656, rs879255655, rs745930390, rs886037860, rs748090019, rs886037869, rs886037870, rs886039815, rs771487311, rs1056574154, rs771373235, rs1060505043, rs746068882, rs1555531363, rs762771340, rs765513105, rs1554460624, rs770256450, rs757499322, rs1554098663, rs79746977, rs1553516687, rs759648976, rs769651861, rs372499275, rs750338419, rs773496891, rs752878896, rs775849720, rs1362848762, rs1554053289, rs758677637, rs985064686, rs1554075284, rs769864196, rs748523193, rs755381180, rs1456300819, rs555811074, rs1261505725, rs548706733, rs371575563, rs200859699, rs770155116, rs1553359373, rs752971070, rs1554075506, rs1157065841, rs763975565, rs766663693, rs745949846, rs759125480, rs753802842, rs202024173, rs746591648, rs759150616, rs1860309810 |
28475963, 26044572, 25830415 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Asplenia |
Asplenia Syndrome, Congenital absence of spleen |
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Dwarfism |
Dwarfism |
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Hydronephrosis |
Bilateral hydronephrosis |
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Majewski syndrome |
Majewski Syndrome |
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