DYNLT2B (dynein light chain Tctex-type 2B)

Gene

• Entrez ID: 255758
• Gene name: Dynein light chain Tctex-type 2B
• Gene symbol: DYNLT2B
• Synonyms (NCBI Gene): SRTD17, TCTEX1D2
• Disease Acronyms (UniProt): SRTD17
• Chromosome: 3
• Chromosome location: 3q29
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs771373235	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039815	T>A	Pathogenic	Intron variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	25830415
GO:0005515	Function	Protein binding	IPI	20195357, 25910212, 26044572, 27173435, 32296183
GO:0005813	Component	Centrosome	IDA	25830415
GO:0005868	Component	Cytoplasmic dynein complex	IDA	25205765, 25830415
GO:0005930	Component	Axoneme	IDA	25830415
GO:0031021	Component	Interphase microtubule organizing center	IDA	25830415
GO:0035721	Process	Intraciliary retrograde transport	IMP	29742051
GO:0045505	Function	Dynein intermediate chain binding	IPI	25830415
GO:0060271	Process	Cilium assembly	IMP	25830415
GO:0097546	Component	Ciliary base	IDA	25830415
GO:1902017	Process	Regulation of cilium assembly	IMP	25205765
GO:1905799	Process	Regulation of intraciliary retrograde transport	IMP	26044572

Other IDs

• MIM: 617353
• HGNC: 28482
• e!Ensembl: ENSG00000213123

Protein

• 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, 8RGI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03645	Tctex-1	43 → 140	Tctex-1 family	Family

• Sequence:

  MATSIGVSFSVGDGVPEAEKNAGEPENTYILRPVFQQRFRPSVVKDCIHAVLKEELANAE
  YSPEEMPQLTKHLSENIKDKLKEMGFDRYKMVVQVVIGEQRGEGVFMASRCFWDADTDNY
  THDVFMNDSLFCVVAAFGCFYY

• Sequence length: 142

Pathways

Reactome:

Intraflagellar transport

Associated diseases

Causal
Disease term	Disease name	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
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
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

Unknown
Disease term	Disease name	Evidence	References	Source
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	short-rib thoracic dysplasia 17 with or without polydactyly			GenCC
Schizophrenia	Schizophrenia			GWAS