DYNLT2

gene
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Also known as TCTEX1D3TCTEX2Tctex4oda12

Summary

DYNLT2 (dynein light chain Tctex-type 2, HGNC:11695) is a protein-coding gene on chromosome 6q27, encoding Dynein light chain Tctex-type protein 2 (Q8IZS6). Component of dynein, a family of motor proteins essential for movement along microtubules.

Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in cytosol and sperm flagellum. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in cytoplasm.

Source: NCBI Gene 6991 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 29 total
  • MANE Select transcript: NM_174910

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:11695
Approved symbolDYNLT2
Namedynein light chain Tctex-type 2
Location6q27
Locus typegene with protein product
StatusApproved
AliasesTCTEX1D3, TCTEX2, Tctex4, oda12
Ensembl geneENSG00000184786
Ensembl biotypeprotein_coding
OMIM186977
Entrez6991

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000366774, ENST00000628156, ENST00000940845

RefSeq mRNA: 1 — MANE Select: NM_174910 NM_174910

CCDS: CCDS5310

Canonical transcript exons

ENST00000366774 — 4 exons

ExonStartEnd
ENSE00001307780169744068169744274
ENSE00001321513169743080169743238
ENSE00001442585169740109169740295
ENSE00001442589169751339169751572

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 86.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0705 / max 146.8102, expressed in 1358 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
768004.07051358

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047386.72gold quality
left testisUBERON:000453385.86gold quality
testisUBERON:000047385.63gold quality
right testisUBERON:000453484.65gold quality
left ovaryUBERON:000211977.31gold quality
ovaryUBERON:000099276.21gold quality
right uterine tubeUBERON:000130276.16gold quality
right ovaryUBERON:000211875.23gold quality
pituitary glandUBERON:000000774.98gold quality
endometriumUBERON:000129574.77gold quality
mucosa of transverse colonUBERON:000499174.72gold quality
adenohypophysisUBERON:000219674.69gold quality
spleenUBERON:000210674.43gold quality
metanephros cortexUBERON:001053374.34gold quality
lymph nodeUBERON:000002974.27gold quality
body of uterusUBERON:000985373.92gold quality
popliteal arteryUBERON:000225073.82gold quality
tibial arteryUBERON:000761073.81gold quality
cortical plateUBERON:000534373.72gold quality
calcaneal tendonUBERON:000370173.43gold quality
ganglionic eminenceUBERON:000402373.24gold quality
lower esophagus mucosaUBERON:003583473.17gold quality
right hemisphere of cerebellumUBERON:001489073.12gold quality
left lobe of thyroid glandUBERON:000112073.04gold quality
thyroid glandUBERON:000204672.99gold quality
lower esophagus muscularis layerUBERON:003583372.99gold quality
lower esophagusUBERON:001347372.97gold quality
cortex of kidneyUBERON:000122572.92gold quality
prostate glandUBERON:000236772.89gold quality
cerebellar hemisphereUBERON:000224572.79gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-CURD-10no92.61
E-ANND-3no0.16

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

  • Because TCTE3 encodes a putative light chain of the outer dynein arm of cilia and human diseases caused by ciliary dysfunction show various phenotypes including skeletal defect, TCTE3 may be a genetic candidate influencing CDH. (PMID:21085971)
  • TCTE3 is a useful marker of pancreatobiliary differentiation and may aid in the diagnosis of pancreatobiliary adenocarcinomas. (PMID:29079176)
  • Study of Linc00574 Regulatory Effect on the TCTE3 Expression in Sperm Motility. (PMID:32749594)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
mus_musculusDynlt2a1ENSMUSG00000079707
mus_musculusDynlt2a2ENSMUSG00000079710
mus_musculusDynlt2a3ENSMUSG00000116780
rattus_norvegicusDynlt2ENSRNOG00000015293

Paralogs (5): DYNLT1 (ENSG00000146425), DYNLT5 (ENSG00000152760), DYNLT3 (ENSG00000165169), DYNLT4 (ENSG00000188396), DYNLT2B (ENSG00000213123)

Protein

Protein identifiers

Dynein light chain Tctex-type protein 2Q8IZS6 (reviewed: Q8IZS6)

Alternative names: T-complex testis-specific protein 3, T-complex-associated testis-expressed protein 3, Tctex1 domain-containing protein 3

All UniProt accessions (1): Q8IZS6

UniProt curated annotations — full annotation on UniProt →

Function. Component of dynein, a family of motor proteins essential for movement along microtubules. Required for structural and functional integrity of cilia. Candidate for involvement in male sterility.

Subunit / interactions. Part of the ciliary outer dynein arms (ODAs), at least consisting of dynein axonemal heavy chains, light chains and intermediate chains. The ODAs interacts with DNAAF9; this interaction inactivates the dyneins. Interacts with CCDC159. Interacts with CSNK2B.

Subcellular location. Cytoplasm. Cytoskeleton. Cytoplasmic granule. Membrane.

Tissue specificity. Expressed predominantly in testis. Also expressed in brain, lung and trachea.

Similarity. Belongs to the dynein light chain Tctex-type family.

RefSeq proteins (1): NP_777570* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR005334Tctex-1-likeFamily
IPR038586Tctex-1-like_sfHomologous_superfamily

Pfam: PF03645

UniProt features (6 total): sequence variant 3, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8IZS6-F177.200.45

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-5620924Intraflagellar transport

MSigDB gene sets: 56 (showing top): LIANG_HEMATOPOIESIS_STEM_CELL_NUMBER_SMALL_VS_HUGE_UP, GERY_CEBP_TARGETS, chr6q27, JACKSON_DNMT1_TARGETS_UP, BOYLAN_MULTIPLE_MYELOMA_C_D_UP, MARSON_BOUND_BY_FOXP3_STIMULATED, GOCC_CYTOPLASMIC_DYNEIN_COMPLEX, GOCC_DYNEIN_COMPLEX, SCGGAAGY_ELK1_02, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, PHESSE_TARGETS_OF_APC_AND_MBD2_UP, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GOMF_DYNEIN_INTERMEDIATE_CHAIN_BINDING, REACTOME_ORGANELLE_BIOGENESIS_AND_MAINTENANCE

GO Biological Process (1): microtubule-based movement (GO:0007018)

GO Molecular Function (2): dynein intermediate chain binding (GO:0045505), protein binding (GO:0005515)

GO Cellular Component (6): cytoplasm (GO:0005737), cytoplasmic dynein complex (GO:0005868), microtubule (GO:0005874), membrane (GO:0016020), cytoskeleton (GO:0005856), dynein complex (GO:0030286)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Assembly of the 9+0 primary cilium1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
microtubule-based process1
protein binding1
binding1
intracellular anatomical structure1
dynein complex1
microtubule cytoskeleton1
polymeric cytoskeletal fiber1
intracellular membraneless organelle1
microtubule associated complex1
catalytic complex1

Protein interactions and networks

STRING

762 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DYNLT2Q12799Q12799893
DYNLT2DRC5Q5JU00830
DYNLT2WDR27A2RRH5759
DYNLT2TCP1P17987744
DYNLT2DYNLT1P63172671
DYNLT2DYNC1I2Q13409671
DYNLT2THBS2P35442657
DYNLT2PHF10Q8WUB8642
DYNLT2CHMP24386618
DYNLT2DYNLL1P63167596
DYNLT2FRMD1Q8N878574
DYNLT2C6orf120Q7Z4R8571
DYNLT2KIF25Q9UIL4558
DYNLT2DACT2Q5SW24543
DYNLT2SMOC2Q9H3U7499

IntAct

4 interactions, top by confidence:

ABTypeScore
DYNLT2DCDC2psi-mi:“MI:0915”(physical association)0.560

BioGRID (3): TCTE3 (Synthetic Lethality), TCTE3 (Affinity Capture-RNA), TCTE3 (Affinity Capture-MS)

ESM2 similar proteins: A7T1N0, B2RR83, F1QMY1, F1S5L4, O13648, O42857, O75343, P08487, P10686, P11985, P19174, P22717, P56523, P97311, P97564, Q04861, Q09315, Q14566, Q14BI7, Q21557, Q28BS0, Q28CM3, Q29JI9, Q2KIZ8, Q32P71, Q39579, Q3MHU3, Q4V339, Q5FWY4, Q5JTY5, Q5R746, Q5RIA9, Q5ZI74, Q61586, Q62077, Q6DNF3, Q8IUF1, Q8IZS6, Q8NDG6, Q8VEH6

Diamond homologs: F1QMY1, P11985, P51807, Q32P71, Q66IC8, Q8CDY7, Q8IZS6, Q8WW35, Q94524, Q9CQ66

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

29 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance25
Likely benign4
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

924 predictions. Top by Δscore:

VariantEffectΔscore
6:169744066:A:ACdonor_gain1.0000
6:169744067:C:CCdonor_gain1.0000
6:169751337:A:ACdonor_gain1.0000
6:169751338:C:CCdonor_gain1.0000
6:169751338:CTG:Cdonor_gain1.0000
6:169751365:T:TAdonor_gain1.0000
6:169751374:T:Adonor_gain1.0000
6:169744275:C:CCacceptor_gain0.9900
6:169751036:T:Adonor_gain0.9900
6:169751141:TTAGC:Tdonor_gain0.9900
6:169751234:T:TAdonor_gain0.9900
6:169751289:TAA:Tdonor_gain0.9900
6:169751290:A:ACdonor_gain0.9900
6:169751290:AAA:Adonor_gain0.9900
6:169751337:ACTG:Adonor_gain0.9900
6:169751338:CTGC:Cdonor_gain0.9900
6:169751343:T:TAdonor_gain0.9900
6:169751434:T:TAdonor_gain0.9900
6:169740292:CAAT:Cacceptor_gain0.9800
6:169740295:TCTG:Tacceptor_loss0.9800
6:169740296:C:CCacceptor_gain0.9800
6:169740296:C:Tacceptor_loss0.9800
6:169740297:T:Gacceptor_loss0.9800
6:169743078:A:ACdonor_gain0.9800
6:169743079:C:CCdonor_gain0.9800
6:169751028:G:Cdonor_gain0.9800
6:169751150:A:ACdonor_gain0.9800
6:169751291:A:Cdonor_gain0.9800
6:169751340:G:GAdonor_gain0.9800
6:169751370:T:Adonor_gain0.9800

AlphaMissense

1298 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:169740262:C:GD174H0.993
6:169740287:G:CS165R0.992
6:169740287:G:TS165R0.992
6:169740289:T:GS165R0.992
6:169740261:T:GD174A0.991
6:169740261:T:AD174V0.990
6:169740201:G:TA194D0.987
6:169743135:C:GR144P0.986
6:169744072:A:GL108P0.985
6:169740260:G:CD174E0.984
6:169740260:G:TD174E0.984
6:169743168:A:TI133K0.983
6:169743128:C:AK146N0.982
6:169743128:C:GK146N0.982
6:169743136:G:TR144S0.981
6:169740207:A:TV192E0.978
6:169743156:A:TV137D0.978
6:169740277:A:GW169R0.977
6:169740277:A:TW169R0.977
6:169744111:A:GF95S0.977
6:169743168:A:CI133R0.976
6:169743231:A:GL112P0.976
6:169751351:G:CF36L0.975
6:169751351:G:TF36L0.975
6:169751353:A:GF36L0.975
6:169744096:A:TV100E0.974
6:169744110:G:CF95L0.972
6:169744110:G:TF95L0.972
6:169744112:A:GF95L0.972
6:169740219:G:TA188E0.971

dbSNP variants (sampled 300 via entrez): RS1000078260 (6:169737011 C>T), RS1000126669 (6:169744535 T>C), RS1000135718 (6:169751822 C>G,T), RS1000232405 (6:169726788 TA>T,TAA), RS1000310022 (6:169726293 T>G), RS1000420338 (6:169750660 G>A), RS1000541844 (6:169724943 A>T), RS1000681942 (6:169726038 G>T), RS1000733918 (6:169733875 G>A), RS1000892020 (6:169744793 T>C,G), RS1000976469 (6:169738088 C>T), RS1001072112 (6:169730692 A>G), RS1001103117 (6:169730965 A>G), RS1001615513 (6:169731858 G>A), RS1001836608 (6:169730202 C>T)

Disease associations

OMIM: gene MIM:186977 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

StudyTraitp-value
GCST001255_3Type 1 diabetes8.000000e-09
GCST009391_743Metabolite levels9.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, decreases methylation5
methylmercuric chloridedecreases expression1
ferrous chlorideincreases expression1
pentanaldecreases expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
Diethylhexyl Phthalateincreases expression1
Ethyl Methanesulfonatedecreases expression1
Smokedecreases expression1
Tobacco Smoke Pollutionincreases expression1
Vincristinedecreases expression1
Cadmium Chlorideincreases expression1
Acrylamideincreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): type 1 diabetes mellitus