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   03-AUG-2022, entry version 129.
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:29742051, PubMed:26044572). {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=5; 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}.
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DR   EMBL; AC069257; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC021177; AAH21177.1; -; mRNA.
DR   CCDS; CCDS33929.1; -.
DR   RefSeq; NP_689986.2; NM_152773.4.
DR   AlphaFoldDB; Q8WW35; -.
DR   SMR; Q8WW35; -.
DR   BioGRID; 129118; 37.
DR   CORUM; Q8WW35; -.
DR   IntAct; Q8WW35; 25.
DR   MINT; Q8WW35; -.
DR   STRING; 9606.ENSP00000324323; -.
DR   iPTMnet; Q8WW35; -.
DR   PhosphoSitePlus; Q8WW35; -.
DR   BioMuta; TCTEX1D2; -.
DR   DMDM; 166987400; -.
DR   EPD; Q8WW35; -.
DR   MassIVE; Q8WW35; -.
DR   MaxQB; Q8WW35; -.
DR   PaxDb; Q8WW35; -.
DR   PeptideAtlas; Q8WW35; -.
DR   PRIDE; Q8WW35; -.
DR   ProteomicsDB; 74856; -.
DR   Antibodypedia; 53889; 62 antibodies from 19 providers.
DR   DNASU; 255758; -.
DR   Ensembl; ENST00000325318.10; ENSP00000324323.5; ENSG00000213123.11.
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   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   neXtProt; NX_Q8WW35; -.
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; YSMRPAF; -.
DR   OrthoDB; 1434909at2759; -.
DR   PhylomeDB; Q8WW35; -.
DR   TreeFam; TF313904; -.
DR   PathwayCommons; Q8WW35; -.
DR   Reactome; R-HSA-5620924; Intraflagellar transport.
DR   SignaLink; Q8WW35; -.
DR   BioGRID-ORCS; 255758; 16 hits in 1046 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 95 other tissues.
DR   ExpressionAtlas; Q8WW35; baseline and differential.
DR   Genevisible; Q8WW35; HS.
DR   GO; GO:0005929; C:cilium; IEA:GOC.
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: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   Gene3D; 3.30.1140.40; -; 1.
DR   InterPro; IPR005334; Tctex-1-like.
DR   InterPro; IPR038586; Tctex-1-like_sf.
DR   PANTHER; PTHR21255; PTHR21255; 1.
DR   Pfam; PF03645; Tctex-1; 1.
PE   1: Evidence at protein level;
KW   Ciliopathy; Cytoplasm; Disease variant; 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"
SQ   SEQUENCE   142 AA;  16122 MW;  9497791BE19EFFCB CRC64;
     MATSIGVSFS VGDGVPEAEK NAGEPENTYI LRPVFQQRFR PSVVKDCIHA VLKEELANAE
     YSPEEMPQLT KHLSENIKDK LKEMGFDRYK MVVQVVIGEQ RGEGVFMASR CFWDADTDNY
     THDVFMNDSL FCVVAAFGCF YY