GediPNet logo

DYNLT2B (dynein light chain Tctex-type 2B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
255758
Gene nameGene Name - the full gene name approved by the HGNC.
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.
DYNLT2B
SynonymsGene synonyms aliases
SRTD17, TCTEX1D2
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q29
SummarySummary of gene provided in NCBI Entrez Gene.
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.
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)Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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.
 
Reactome
    Intraflagellar transport
Associated diseases
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
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
Unknown
Disease name Disease term dbSNP ID References
Asplenia Asplenia Syndrome, Congenital absence of spleen
Dwarfism Dwarfism
Hydronephrosis Bilateral hydronephrosis
Majewski syndrome Majewski Syndrome

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412