ID DYT2B_HUMAN Reviewed; 142 AA. AC Q8WW35; A6NCN5; DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot. DT 05-FEB-2008, sequence version 2. DT 02-SEP-2026, entry version 148. DE RecName: Full=Dynein light chain Tctex-type protein 2B {ECO:0000305}; DE AltName: Full=Tctex1 domain-containing protein 2; GN Name=DYNLT2B {ECO:0000312|HGNC:HGNC:28482}; GN Synonyms=TCTEX1D2 {ECO:0000303|PubMed:26044572}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16641997; DOI=10.1038/nature04728; RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.; RT "The DNA sequence, annotation and analysis of human chromosome 3."; RL Nature 440:1194-1198(2006). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Testis; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [3] RP IDENTIFICATION IN THE CYTOPLASMIC DYNEIN 2 COMPLEX, AND SUBUNIT. RX PubMed=25205765; DOI=10.1242/jcs.159038; RA Asante D., Stevenson N.L., Stephens D.J.; RT "Subunit composition of the human cytoplasmic dynein-2 complex."; RL J. Cell Sci. 127:4774-4787(2014). RN [4] RP FUNCTION, INTERACTION WITH DYNC2I1, INVOLVEMENT IN SRTD17, VARIANT SRTD17 RP 88-ARG--TYR-142 DEL, AND SUBUNIT. RX PubMed=26044572; DOI=10.1038/ncomms8074; RG UK10K; RA Schmidts M., Hou Y., Cortes C.R., Mans D.A., Huber C., Boldt K., Patel M., RA van Reeuwijk J., Plaza J.M., van Beersum S.E., Yap Z.M., Letteboer S.J., RA Taylor S.P., Herridge W., Johnson C.A., Scambler P.J., Ueffing M., RA Kayserili H., Krakow D., King S.M., Beales P.L., Al-Gazali L., Wicking C., RA Cormier-Daire V., Roepman R., Mitchison H.M., Witman G.B.; RT "TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with RT impaired retrograde intraflagellar transport."; RL Nat. Commun. 6:7074-7074(2015). RN [5] RP ERRATUM OF PUBMED:26044572. RX PubMed=27021811; DOI=10.1038/ncomms11270; RG UK10K; RA Schmidts M., Hou Y., Cortes C.R., Mans D.A., Huber C., Boldt K., Patel M., RA van Reeuwijk J., Plaza J.M., van Beersum S.E., Yap Z.M., Letteboer S.J., RA Taylor S.P., Herridge W., Johnson C.A., Scambler P.J., Ueffing M., RA Kayserili H., Krakow D., King S.M., Beales P.L., Al-Gazali L., Wicking C., RA Cormier-Daire V., Roepman R., Mitchison H.M., Witman G.B.; RL Nat. Commun. 7:11270-11270(2016). RN [6] RP SUBUNIT, FUNCTION, AND INTERACTION WITH DYNC2I1. RX PubMed=29742051; DOI=10.1091/mbc.e18-03-0173; RA Hamada Y., Tsurumi Y., Nozaki S., Katoh Y., Nakayama K.; RT "Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the RT dynein-2 complex is crucial for ciliary protein trafficking."; RL Mol. Biol. Cell 29:1628-1639(2018). CC -!- FUNCTION: Acts as one of several non-catalytic accessory components of CC the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein CC complex that drives the movement of cargos along microtubules within CC cilia and flagella in concert with the intraflagellar transport (IFT) CC system. Required for proper retrograde ciliary transport. CC {ECO:0000269|PubMed:26044572, ECO:0000269|PubMed:29742051}. CC -!- SUBUNIT: Light chain of the cytoplasmic dynein complex 2, a CC multisubunit complex composed at least of eleven different proteins CC (PubMed:25205765, PubMed:26044572). The cytoplasmic dynein 2 complex CC consists of two catalytic heavy chains (HCs) and a number of non- CC catalytic subunits presented by intermediate chains (ICs), light CC intermediate chains (LICs) and light chains (LCs). Among them, a heavy CC chain (DYNC2H1), two intermediate chains (DYNC2I2 and DYNC2I1), a light CC intermediate chain (DYNC2LI1), and a light chain (DYNLT2B) are unique CC to the dynein-2 complex, but a subset of the light chains are also CC shared by dynein-1 and dynein-2 complexes (PubMed:25205765, CC PubMed:26044572). Interacts with DYNC2I1 (PubMed:26044572). The dimer CC DYNLT2B-DYNLT1/DYNLT3 interacts with DYNC2I1; this interaction is CC crucial for retrograde trafficking of ciliary proteins CC (PubMed:26044572, PubMed:29742051). {ECO:0000269|PubMed:25205765, CC ECO:0000269|PubMed:26044572, ECO:0000269|PubMed:29742051}. CC -!- INTERACTION: CC Q8WW35; P35609: ACTN2; NbExp=3; IntAct=EBI-2692044, EBI-77797; CC Q8WW35; P55273: CDKN2D; NbExp=3; IntAct=EBI-2692044, EBI-745859; CC Q8WW35; P63172: DYNLT1; NbExp=6; IntAct=EBI-2692044, EBI-1176455; CC Q8WW35; P13984: GTF2F2; NbExp=2; IntAct=EBI-2692044, EBI-1030560; CC -!- SUBCELLULAR LOCATION: Dynein axonemal particle {ECO:0000305}. CC -!- DISEASE: Short-rib thoracic dysplasia 17 with or without polydactyly CC (SRTD17) [MIM:617405]: A form of short-rib thoracic dysplasia, a group CC of autosomal recessive ciliopathies that are characterized by a CC constricted thoracic cage, short ribs, shortened tubular bones, and a CC 'trident' appearance of the acetabular roof. Polydactyly is variably CC present. Non-skeletal involvement can include cleft lip/palate as well CC as anomalies of major organs such as the brain, eye, heart, kidneys, CC liver, pancreas, intestines, and genitalia. Some forms of the disease CC are lethal in the neonatal period due to respiratory insufficiency CC secondary to a severely restricted thoracic cage, whereas others are CC compatible with life. Disease spectrum encompasses Ellis-van Creveld CC syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer- CC Saldino syndrome, and short rib-polydactyly syndrome. CC {ECO:0000269|PubMed:26044572}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- SIMILARITY: Belongs to the dynein light chain Tctex-type family. CC {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AC069257; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC021177; AAH21177.1; -; mRNA. DR CCDS; CCDS33929.1; -. DR RefSeq; NP_689986.2; NM_152773.5. DR PDB; 8J07; EM; 4.10 A; l7/n7/p7/r7=1-142. DR PDB; 8RGI; X-ray; 2.02 A; B=2-142. DR AlphaFoldDB; Q8WW35; -. DR EMDB; EMD-35888; -. DR SMR; Q8WW35; -. DR BioGRID; 129118; 39. DR ComplexPortal; CPX-26357; Dynein-2 complex, light-chain variant 1. DR ComplexPortal; CPX-26360; Dynein-2 complex, light-chain variant 2. DR ComplexPortal; CPX-26361; Dynein-2 complex, light-chain variant 3. DR ComplexPortal; CPX-26362; Dynein-2 complex, light-chain variant 4. DR ComplexPortal; CPX-26363; Dynein-2 complex, light-chain variant 5. DR ComplexPortal; CPX-26364; Dynein-2 complex, light-chain variant 6. DR ComplexPortal; CPX-26365; Dynein-2 complex, light-chain variant 7. DR ComplexPortal; CPX-26366; Dynein-2 complex, light-chain variant 8. DR CORUM; Q8WW35; -. DR FunCoup; Q8WW35; 227. DR IntAct; Q8WW35; 33. DR MINT; Q8WW35; -. DR STRING; 9606.ENSP00000324323; -. DR iPTMnet; Q8WW35; -. DR PhosphoSitePlus; Q8WW35; -. DR BioMuta; TCTEX1D2; -. DR DMDM; 166987400; -. DR jPOST; Q8WW35; -. DR MassIVE; Q8WW35; -. DR PaxDb; 9606-ENSP00000324323; -. DR PeptideAtlas; Q8WW35; -. DR ProteomicsDB; 74856; -. DR Pumba; Q8WW35; -. DR Antibodypedia; 53889; 58 antibodies from 18 providers. DR DNASU; 255758; -. DR Ensembl; ENST00000325318.10; ENSP00000324323.5; ENSG00000213123.12. DR GeneID; 255758; -. DR KEGG; hsa:255758; -. DR MANE-Select; ENST00000325318.10; ENSP00000324323.5; NM_152773.5; NP_689986.2. DR UCSC; uc003fwi.4; human. DR AGR; HGNC:28482; -. DR CTD; 255758; -. DR DisGeNET; 255758; -. DR GeneCards; DYNLT2B; -. DR HGNC; HGNC:28482; DYNLT2B. DR HPA; ENSG00000213123; Low tissue specificity. DR MalaCards; DYNLT2B; -. DR MIM; 617353; gene. DR MIM; 617405; phenotype. DR OpenTargets; ENSG00000213123; -. DR VEuPathDB; HostDB:ENSG00000213123; -. DR eggNOG; KOG4108; Eukaryota. DR GeneTree; ENSGT00940000160019; -. DR HOGENOM; CLU_097204_8_0_1; -. DR InParanoid; Q8WW35; -. DR OMA; YVIRPNF; -. DR OrthoDB; 10260741at2759; -. DR PAN-GO; Q8WW35; 4 GO annotations based on evolutionary models. DR PhylomeDB; Q8WW35; -. DR PathwayCommons; Q8WW35; -. DR Reactome; R-HSA-5620924; Intraflagellar transport. DR SignaLink; Q8WW35; -. DR Agora; ENSG00000213123; -. DR BioGRID-ORCS; 255758; 17 hits in 1123 CRISPR screens. DR ChiTaRS; TCTEX1D2; human. DR GenomeRNAi; 255758; -. DR Pharos; Q8WW35; Tbio. DR PRO; PR:Q8WW35; -. DR Proteomes; UP000005640; Chromosome 3. DR RNAct; Q8WW35; protein. DR Bgee; ENSG00000213123; Expressed in right uterine tube and 97 other cell types or tissues. DR ExpressionAtlas; Q8WW35; baseline and differential. DR GO; GO:0005929; C:cilium; NAS:ComplexPortal. DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central. DR GO; GO:0005868; C:cytoplasmic dynein complex; IDA:GO_Central. DR GO; GO:0120293; C:dynein axonemal particle; IEA:UniProtKB-SubCell. DR GO; GO:0030286; C:dynein complex; NAS:ComplexPortal. DR GO; GO:0001673; C:male germ cell nucleus; NAS:ComplexPortal. DR GO; GO:0045505; F:dynein intermediate chain binding; IPI:GO_Central. DR GO; GO:0060271; P:cilium assembly; IMP:GO_Central. DR GO; GO:0035721; P:intraciliary retrograde transport; IMP:UniProtKB. DR GO; GO:0007018; P:microtubule-based movement; IBA:GO_Central. DR GO; GO:1902017; P:regulation of cilium assembly; IMP:GO_Central. DR GO; GO:1905799; P:regulation of intraciliary retrograde transport; IMP:UniProtKB. DR CDD; cd21459; DLC-like_TCTEX1D2; 1. DR FunFam; 3.30.1140.40:FF:000003; tctex1 domain-containing protein 2; 1. DR Gene3D; 3.30.1140.40; Tctex-1; 1. DR InterPro; IPR005334; Tctex-1-like. DR InterPro; IPR038586; Tctex-1-like_sf. DR PANTHER; PTHR21255:SF7; DYNEIN LIGHT CHAIN TCTEX-TYPE PROTEIN 2B; 1. DR PANTHER; PTHR21255; T-COMPLEX-ASSOCIATED-TESTIS-EXPRESSED 1/ DYNEIN LIGHT CHAIN; 1. DR Pfam; PF03645; Tctex-1; 1. DR PDBsum; 8J07; -. DR PDBsum; 8RGI; -. PE 1: Evidence at protein level; KW 3D-structure; Ciliopathy; Cytoplasm; Disease variant; KW Proteomics identification; Reference proteome. FT CHAIN 1..142 FT /note="Dynein light chain Tctex-type protein 2B" FT /id="PRO_0000316869" FT VARIANT 88..142 FT /note="Missing (in SRTD17)" FT /evidence="ECO:0000269|PubMed:26044572" FT /id="VAR_078554" FT CONFLICT 55 FT /note="E -> G (in Ref. 2; AAH21177)" FT /evidence="ECO:0000305" FT STRAND 4..11 FT /evidence="ECO:0007829|PDB:8RGI" FT HELIX 35..37 FT /evidence="ECO:0007829|PDB:8RGI" FT HELIX 41..56 FT /evidence="ECO:0007829|PDB:8RGI" FT HELIX 63..65 FT /evidence="ECO:0007829|PDB:8RGI" FT HELIX 66..81 FT /evidence="ECO:0007829|PDB:8RGI" FT STRAND 89..99 FT /evidence="ECO:0007829|PDB:8RGI" FT STRAND 104..113 FT /evidence="ECO:0007829|PDB:8RGI" FT TURN 115..117 FT /evidence="ECO:0007829|PDB:8RGI" FT STRAND 119..126 FT /evidence="ECO:0007829|PDB:8RGI" FT STRAND 128..140 FT /evidence="ECO:0007829|PDB:8RGI" SQ SEQUENCE 142 AA; 16122 MW; 9497791BE19EFFCB CRC64; MATSIGVSFS VGDGVPEAEK NAGEPENTYI LRPVFQQRFR PSVVKDCIHA VLKEELANAE YSPEEMPQLT KHLSENIKDK LKEMGFDRYK MVVQVVIGEQ RGEGVFMASR CFWDADTDNY THDVFMNDSL FCVVAAFGCF YY //