DYNLT2
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:11695 |
| Approved symbol | DYNLT2 |
| Name | dynein light chain Tctex-type 2 |
| Location | 6q27 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TCTEX1D3, TCTEX2, Tctex4, oda12 |
| Ensembl gene | ENSG00000184786 |
| Ensembl biotype | protein_coding |
| OMIM | 186977 |
| Entrez | 6991 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001307780 | 169744068 | 169744274 |
| ENSE00001321513 | 169743080 | 169743238 |
| ENSE00001442585 | 169740109 | 169740295 |
| ENSE00001442589 | 169751339 | 169751572 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 76800 | 4.0705 | 1358 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.72 | gold quality |
| left testis | UBERON:0004533 | 85.86 | gold quality |
| testis | UBERON:0000473 | 85.63 | gold quality |
| right testis | UBERON:0004534 | 84.65 | gold quality |
| left ovary | UBERON:0002119 | 77.31 | gold quality |
| ovary | UBERON:0000992 | 76.21 | gold quality |
| right uterine tube | UBERON:0001302 | 76.16 | gold quality |
| right ovary | UBERON:0002118 | 75.23 | gold quality |
| pituitary gland | UBERON:0000007 | 74.98 | gold quality |
| endometrium | UBERON:0001295 | 74.77 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 74.72 | gold quality |
| adenohypophysis | UBERON:0002196 | 74.69 | gold quality |
| spleen | UBERON:0002106 | 74.43 | gold quality |
| metanephros cortex | UBERON:0010533 | 74.34 | gold quality |
| lymph node | UBERON:0000029 | 74.27 | gold quality |
| body of uterus | UBERON:0009853 | 73.92 | gold quality |
| popliteal artery | UBERON:0002250 | 73.82 | gold quality |
| tibial artery | UBERON:0007610 | 73.81 | gold quality |
| cortical plate | UBERON:0005343 | 73.72 | gold quality |
| calcaneal tendon | UBERON:0003701 | 73.43 | gold quality |
| ganglionic eminence | UBERON:0004023 | 73.24 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 73.17 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 73.12 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 73.04 | gold quality |
| thyroid gland | UBERON:0002046 | 72.99 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 72.99 | gold quality |
| lower esophagus | UBERON:0013473 | 72.97 | gold quality |
| cortex of kidney | UBERON:0001225 | 72.92 | gold quality |
| prostate gland | UBERON:0002367 | 72.89 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 72.79 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-10 | no | 92.61 |
| E-ANND-3 | no | 0.16 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Dynlt2a1 | ENSMUSG00000079707 |
| mus_musculus | Dynlt2a2 | ENSMUSG00000079710 |
| mus_musculus | Dynlt2a3 | ENSMUSG00000116780 |
| rattus_norvegicus | Dynlt2 | ENSRNOG00000015293 |
Paralogs (5): DYNLT1 (ENSG00000146425), DYNLT5 (ENSG00000152760), DYNLT3 (ENSG00000165169), DYNLT4 (ENSG00000188396), DYNLT2B (ENSG00000213123)
Protein
Protein identifiers
Dynein light chain Tctex-type protein 2 — Q8IZS6 (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)
| ID | Name | Type |
|---|---|---|
| IPR005334 | Tctex-1-like | Family |
| IPR038586 | Tctex-1-like_sf | Homologous_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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IZS6-F1 | 77.20 | 0.45 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5620924 | Intraflagellar 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:
| Category | Pathways |
|---|---|
| Assembly of the 9+0 primary cilium | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| microtubule-based process | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| dynein complex | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| intracellular membraneless organelle | 1 |
| microtubule associated complex | 1 |
| catalytic complex | 1 |
Protein interactions and networks
STRING
762 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DYNLT2 | Q12799 | Q12799 | 893 |
| DYNLT2 | DRC5 | Q5JU00 | 830 |
| DYNLT2 | WDR27 | A2RRH5 | 759 |
| DYNLT2 | TCP1 | P17987 | 744 |
| DYNLT2 | DYNLT1 | P63172 | 671 |
| DYNLT2 | DYNC1I2 | Q13409 | 671 |
| DYNLT2 | THBS2 | P35442 | 657 |
| DYNLT2 | PHF10 | Q8WUB8 | 642 |
| DYNLT2 | CHM | P24386 | 618 |
| DYNLT2 | DYNLL1 | P63167 | 596 |
| DYNLT2 | FRMD1 | Q8N878 | 574 |
| DYNLT2 | C6orf120 | Q7Z4R8 | 571 |
| DYNLT2 | KIF25 | Q9UIL4 | 558 |
| DYNLT2 | DACT2 | Q5SW24 | 543 |
| DYNLT2 | SMOC2 | Q9H3U7 | 499 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DYNLT2 | DCDC2 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
924 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:169744066:A:AC | donor_gain | 1.0000 |
| 6:169744067:C:CC | donor_gain | 1.0000 |
| 6:169751337:A:AC | donor_gain | 1.0000 |
| 6:169751338:C:CC | donor_gain | 1.0000 |
| 6:169751338:CTG:C | donor_gain | 1.0000 |
| 6:169751365:T:TA | donor_gain | 1.0000 |
| 6:169751374:T:A | donor_gain | 1.0000 |
| 6:169744275:C:CC | acceptor_gain | 0.9900 |
| 6:169751036:T:A | donor_gain | 0.9900 |
| 6:169751141:TTAGC:T | donor_gain | 0.9900 |
| 6:169751234:T:TA | donor_gain | 0.9900 |
| 6:169751289:TAA:T | donor_gain | 0.9900 |
| 6:169751290:A:AC | donor_gain | 0.9900 |
| 6:169751290:AAA:A | donor_gain | 0.9900 |
| 6:169751337:ACTG:A | donor_gain | 0.9900 |
| 6:169751338:CTGC:C | donor_gain | 0.9900 |
| 6:169751343:T:TA | donor_gain | 0.9900 |
| 6:169751434:T:TA | donor_gain | 0.9900 |
| 6:169740292:CAAT:C | acceptor_gain | 0.9800 |
| 6:169740295:TCTG:T | acceptor_loss | 0.9800 |
| 6:169740296:C:CC | acceptor_gain | 0.9800 |
| 6:169740296:C:T | acceptor_loss | 0.9800 |
| 6:169740297:T:G | acceptor_loss | 0.9800 |
| 6:169743078:A:AC | donor_gain | 0.9800 |
| 6:169743079:C:CC | donor_gain | 0.9800 |
| 6:169751028:G:C | donor_gain | 0.9800 |
| 6:169751150:A:AC | donor_gain | 0.9800 |
| 6:169751291:A:C | donor_gain | 0.9800 |
| 6:169751340:G:GA | donor_gain | 0.9800 |
| 6:169751370:T:A | donor_gain | 0.9800 |
AlphaMissense
1298 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:169740262:C:G | D174H | 0.993 |
| 6:169740287:G:C | S165R | 0.992 |
| 6:169740287:G:T | S165R | 0.992 |
| 6:169740289:T:G | S165R | 0.992 |
| 6:169740261:T:G | D174A | 0.991 |
| 6:169740261:T:A | D174V | 0.990 |
| 6:169740201:G:T | A194D | 0.987 |
| 6:169743135:C:G | R144P | 0.986 |
| 6:169744072:A:G | L108P | 0.985 |
| 6:169740260:G:C | D174E | 0.984 |
| 6:169740260:G:T | D174E | 0.984 |
| 6:169743168:A:T | I133K | 0.983 |
| 6:169743128:C:A | K146N | 0.982 |
| 6:169743128:C:G | K146N | 0.982 |
| 6:169743136:G:T | R144S | 0.981 |
| 6:169740207:A:T | V192E | 0.978 |
| 6:169743156:A:T | V137D | 0.978 |
| 6:169740277:A:G | W169R | 0.977 |
| 6:169740277:A:T | W169R | 0.977 |
| 6:169744111:A:G | F95S | 0.977 |
| 6:169743168:A:C | I133R | 0.976 |
| 6:169743231:A:G | L112P | 0.976 |
| 6:169751351:G:C | F36L | 0.975 |
| 6:169751351:G:T | F36L | 0.975 |
| 6:169751353:A:G | F36L | 0.975 |
| 6:169744096:A:T | V100E | 0.974 |
| 6:169744110:G:C | F95L | 0.972 |
| 6:169744110:G:T | F95L | 0.972 |
| 6:169744112:A:G | F95L | 0.972 |
| 6:169740219:G:T | A188E | 0.971 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST001255_3 | Type 1 diabetes | 8.000000e-09 |
| GCST009391_743 | Metabolite levels | 9.000000e-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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, decreases methylation | 5 |
| methylmercuric chloride | decreases expression | 1 |
| ferrous chloride | increases expression | 1 |
| pentanal | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Vincristine | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Acrylamide | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- 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