DYNLT4
gene geneOn this page
Summary
DYNLT4 (dynein light chain Tctex-type 4, HGNC:32315) is a protein-coding gene on chromosome 1p34.1, encoding Dynein light chain Tctex-type 4 (Q5JR98).
Enables protein phosphatase 1 binding activity. Predicted to be involved in microtubule-based movement. Located in acrosomal vesicle; cytoskeleton; and sperm flagellum.
Source: NCBI Gene 343521 — automated summary from GO annotations (Alliance of Genome Resources).
At a glance
- Clinical variants (ClinVar): 61 total
- GTEx eGene: eQTL in 15 tissues, sQTL in 0 (q < 0.05)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.94 (unconstrained)
- MANE Select transcript:
NM_001377534 - Notable: 61 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:32315 |
| Approved symbol | DYNLT4 |
| Name | dynein light chain Tctex-type 4 |
| Location | 1p34.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000188396 |
| Ensembl biotype | protein_coding |
| OMIM | 611713 |
| Entrez | 343521 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 12 protein_coding
MANE Select: ENST00000339355
ENST00000339355, ENST00000675259, ENST00000854447, ENST00000854448, ENST00000854449, ENST00000854450, ENST00000854451, ENST00000854452, ENST00000854453, ENST00000942935, ENST00000942936, ENST00001145719
RefSeq mRNA: 4 — MANE Select: NM_001377534
NM_001013632, NM_001377534, NM_001377535, NM_001377536
CCDS: CCDS30699
Canonical transcript exons
ENST00000339355 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001369237 | 44805893 | 44806679 |
| ENSE00003899086 | 44807325 | 44807351 |
| ENSE00003903990 | 44806784 | 44806838 |
Expression profiles
Bgee: expression breadth ubiquitous, 123 present calls, max score 94.54.
FANTOM5 (CAGE): breadth broad, TPM avg 0.7414 / max 70.9613, expressed in 230 samples.
Highest expression (Bgee): uterine tube, olfactory segment of nasal mucosa, bone marrow cell, fallopian tube, bone marrow.
Genetic regulation across tissues (GTEx eQTL / sQTL)
DYNLT4 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 15 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
15 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Artery Tibial | eqtl | 1.1e-06 | -0.31 | 1:44751388:G:A |
| Artery Aorta | eqtl | 2.0e-04 | -0.27 | 1:44764789:G:A |
| Skin Sun Exposed Lower leg | eqtl | 3.4e-04 | -0.24 | 1:44817885:T:C |
| Adipose Visceral Omentum | eqtl | 4.9e-04 | -0.19 | 1:44826036:G:T |
| Heart Atrial Appendage | eqtl | 9.3e-04 | -0.32 | 1:44817885:T:C |
| Nerve Tibial | eqtl | 1.3e-03 | -0.22 | 1:44821300:C:T |
| Esophagus Mucosa | eqtl | 1.4e-03 | -0.19 | 1:44819674:C:T |
| Cells Cultured fibroblasts | eqtl | 2.0e-03 | -0.13 | 1:44809879:A:C |
| Whole Blood | eqtl | 4.2e-03 | +0.24 | 1:44520523:C:A |
| Lung | eqtl | 5.1e-03 | -0.17 | 1:44811472:C:T |
| Spleen | eqtl | 5.3e-03 | -1.12 | 1:44112730:A:G |
| Skin Not Sun Exposed Suprapubic | eqtl | 7.9e-03 | -0.19 | 1:44809938:TCTC:T |
| Pituitary | eqtl | 2.7e-02 | +0.41 | 1:44102650:A:G |
| Adipose Subcutaneous | eqtl | 3.0e-02 | +0.21 | 1:44416015:GCAT:G |
| Pancreas | eqtl | 3.8e-02 | +0.38 | 1:44423880:A:G |
FANTOM5 promoters
2 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12096 | 0.6943 | 220 |
| 12095 | 0.0472 | 18 |
Top tissues by expression
showing 100 of 127 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 94.54 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.02 | gold quality |
| bone marrow cell | CL:0002092 | 72.88 | gold quality |
| fallopian tube | UBERON:0003889 | 71.52 | gold quality |
| bone marrow | UBERON:0002371 | 68.96 | gold quality |
| blood | UBERON:0000178 | 68.61 | gold quality |
| stromal cell of endometrium | CL:0002255 | 68.25 | gold quality |
| mucosa of stomach | UBERON:0001199 | 67.02 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 66.97 | gold quality |
| left uterine tube | UBERON:0001303 | 66.27 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 66.21 | gold quality |
| right lung | UBERON:0002167 | 66.19 | gold quality |
| left adrenal gland | UBERON:0001234 | 66.12 | gold quality |
| right adrenal gland | UBERON:0001233 | 66.07 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 65.67 | gold quality |
| thoracic aorta | UBERON:0001515 | 64.72 | gold quality |
| ascending aorta | UBERON:0001496 | 64.54 | gold quality |
| adrenal gland | UBERON:0002369 | 63.58 | gold quality |
| gall bladder | UBERON:0002110 | 63.11 | gold quality |
| apex of heart | UBERON:0002098 | 62.26 | gold quality |
| monocyte | CL:0000576 | 61.90 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 61.06 | gold quality |
| leukocyte | CL:0000738 | 60.85 | gold quality |
| lung | UBERON:0002048 | 60.60 | gold quality |
| granulocyte | CL:0000094 | 60.19 | gold quality |
| omental fat pad | UBERON:0010414 | 59.51 | gold quality |
| minor salivary gland | UBERON:0001830 | 59.05 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 59.00 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 57.88 | gold quality |
| right coronary artery | UBERON:0001625 | 57.45 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 57.43 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 57.42 | gold quality |
| esophagus | UBERON:0001043 | 57.37 | gold quality |
| myometrium | UBERON:0001296 | 57.37 | gold quality |
| lower esophagus | UBERON:0013473 | 57.30 | gold quality |
| esophagus mucosa | UBERON:0002469 | 57.12 | gold quality |
| metanephros cortex | UBERON:0010533 | 57.02 | gold quality |
| body of uterus | UBERON:0009853 | 56.83 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 56.46 | gold quality |
| heart left ventricle | UBERON:0002084 | 56.36 | gold quality |
| vermiform appendix | UBERON:0001154 | 56.34 | gold quality |
| left coronary artery | UBERON:0001626 | 56.32 | gold quality |
| liver | UBERON:0002107 | 55.97 | gold quality |
| adenohypophysis | UBERON:0002196 | 55.53 | gold quality |
| right atrium auricular region | UBERON:0006631 | 55.23 | gold quality |
| body of stomach | UBERON:0001161 | 55.07 | gold quality |
| uterine cervix | UBERON:0000002 | 55.03 | gold quality |
| heart | UBERON:0000948 | 55.03 | gold quality |
| thyroid gland | UBERON:0002046 | 54.94 | gold quality |
| muscle tissue | UBERON:0002385 | 54.66 | gold quality |
| body of pancreas | UBERON:0001150 | 54.64 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 54.58 | gold quality |
| colonic epithelium | UBERON:0000397 | 54.52 | gold quality |
| cortex of kidney | UBERON:0001225 | 54.37 | gold quality |
| pituitary gland | UBERON:0000007 | 54.31 | gold quality |
| endocervix | UBERON:0000458 | 54.24 | gold quality |
| adipose tissue | UBERON:0001013 | 54.18 | gold quality |
| popliteal artery | UBERON:0002250 | 54.13 | gold quality |
| tibial artery | UBERON:0007610 | 54.10 | gold quality |
| duodenum | UBERON:0002114 | 53.48 | gold quality |
| sural nerve | UBERON:0015488 | 53.42 | gold quality |
| stomach | UBERON:0000945 | 53.36 | gold quality |
| skin of abdomen | UBERON:0001416 | 52.72 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 52.63 | gold quality |
| small intestine | UBERON:0002108 | 52.52 | gold quality |
| ectocervix | UBERON:0012249 | 52.43 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 52.07 | gold quality |
| right lobe of liver | UBERON:0001114 | 51.91 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 51.67 | gold quality |
| pancreas | UBERON:0001264 | 51.66 | gold quality |
| transverse colon | UBERON:0001157 | 51.43 | gold quality |
| multicellular organism | UBERON:0000468 | 51.15 | gold quality |
| urinary bladder | UBERON:0001255 | 51.07 | gold quality |
| ovary | UBERON:0000992 | 50.85 | gold quality |
| left ovary | UBERON:0002119 | 50.77 | gold quality |
| zone of skin | UBERON:0000014 | 50.70 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 50.59 | gold quality |
| intestine | UBERON:0000160 | 50.58 | gold quality |
| kidney | UBERON:0002113 | 50.56 | gold quality |
| rectum | UBERON:0001052 | 50.48 | gold quality |
| colon | UBERON:0001155 | 50.41 | gold quality |
| calcaneal tendon | UBERON:0003701 | 50.28 | silver quality |
| vagina | UBERON:0000996 | 50.16 | gold quality |
| spleen | UBERON:0002106 | 50.12 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 50.01 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 49.94 | gold quality |
| placenta | UBERON:0001987 | 49.88 | gold quality |
| adrenal tissue | UBERON:0018303 | 49.76 | gold quality |
| gastrocnemius | UBERON:0001388 | 49.60 | gold quality |
| tonsil | UBERON:0002372 | 49.56 | gold quality |
| muscle of leg | UBERON:0001383 | 49.50 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 49.50 | gold quality |
| lymph node | UBERON:0000029 | 49.49 | gold quality |
| right ovary | UBERON:0002118 | 49.36 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 49.32 | gold quality |
| skin of leg | UBERON:0001511 | 49.06 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 48.84 | gold quality |
| endometrium | UBERON:0001295 | 47.88 | gold quality |
| hypothalamus | UBERON:0001898 | 46.72 | gold quality |
| prostate gland | UBERON:0002367 | 45.51 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 60.74 |
| E-ANND-3 | yes | 9.54 |
HPA expression
RNA tissue specificity: Group enriched
showing 60 of 72 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Choroid plexus | tissue | 43.4 | |
| Locus coeruleus | tissue | 5.2 | |
| Periaqueductal gray | tissue | 4.1 | |
| Fallopian tube | tissue | 4.0 | high |
| Nucleus accumbens | tissue | 2.7 | |
| Hippocampus | tissue | 2.3 | not detected |
| Bone marrow | tissue | 2.3 | not detected |
| Epididymis | tissue | 2.1 | not detected |
| Caudate putamen | tissue | 1.9 | |
| Gallbladder | tissue | 1.7 | not detected |
| Pons | tissue | 1.5 | |
| Hypothalamus | tissue | 1.4 | |
| Hippocampal formation | tissue | 1.3 | |
| Appendix | tissue | 1.2 | not detected |
| Septum | tissue | 1.1 | |
| Stomach 1 | tissue | 1.0 | not detected |
| Lung | tissue | 1.0 | not detected |
| Basal ganglia | tissue | 0.9 | not detected |
| Pituitary gland | tissue | 0.8 | |
| Medulla oblongata | tissue | 0.8 | |
| Corpus callosum | tissue | 0.8 | |
| Adrenal gland | tissue | 0.8 | not detected |
| Endometrium 1 | tissue | 0.7 | not detected |
| Spinal cord | tissue | 0.7 | |
| Esophagus | tissue | 0.6 | not detected |
| Midbrain | tissue | 0.6 | |
| Thalamus | tissue | 0.6 | |
| Superior colliculi | tissue | 0.6 | |
| Substantia nigra | tissue | 0.6 | |
| Thyroid gland | tissue | 0.6 | not detected |
| Amygdala | tissue | 0.5 | |
| Postcentral gyrus | tissue | 0.5 | |
| Ventral forebrain | tissue | 0.5 | |
| Cerebral cortex | tissue | 0.4 | not detected |
| Motor cortex | tissue | 0.4 | |
| Cerebellum | tissue | 0.4 | not detected |
| Small intestine | tissue | 0.4 | not detected |
| Duodenum | tissue | 0.4 | not detected |
| Retrosplenial cortex | tissue | 0.4 | |
| Skin 1 | tissue | 0.3 | not detected |
| Vagina | tissue | 0.3 | not detected |
| Salivary gland | tissue | 0.3 | not detected |
| Parathyroid gland | tissue | 0.3 | not detected |
| Pancreas | tissue | 0.3 | not detected |
| Putamen | tissue | 0.3 | |
| Liver | tissue | 0.3 | not detected |
| Temporal cortex | tissue | 0.3 | |
| Occipital cortex | tissue | 0.3 | |
| Insular cortex | tissue | 0.3 | |
| Lymph node | tissue | 0.2 | not detected |
| Breast | tissue | 0.2 | not detected |
| Prefrontal cortex | tissue | 0.2 | |
| Heart muscle | tissue | 0.2 | not detected |
| Seminal vesicle | tissue | 0.2 | not detected |
| Skeletal muscle | tissue | 0.2 | not detected |
| Colon | tissue | 0.2 | not detected |
| Spleen | tissue | 0.2 | not detected |
| Entorhinal cortex | tissue | 0.2 | |
| Retrosplenial and cingulate cortex | tissue | 0.2 | |
| Olfactory bulb | tissue | 0.2 |
Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Area postrema (12.0), Habenula (10.4), Periaquaductal grey, lateral (9.6), Nucleus tractus solitarii (9.2), Nucleus raphe pallidus (8.9).
Regulation
Is transcription factor: no
Functional genomics
gnomAD constraint: pLI 0.000437, LOEUF 1.94, missense Z -2.04 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000339355 — one region, missense o/e 1.01.
Literature-anchored findings (GeneRIF, showing 1)
- 40 novel TCTEX1D4 interactors in human spermatozoa have been identified. (PMID:24606217)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Dynlt4 | ENSMUSG00000047671 |
| rattus_norvegicus | Dynlt4 | ENSRNOG00000018463 |
Paralogs (5): DYNLT1 (ENSG00000146425), DYNLT5 (ENSG00000152760), DYNLT3 (ENSG00000165169), DYNLT2 (ENSG00000184786), DYNLT2B (ENSG00000213123)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:3045358) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| decreased hematocrit | 1 |
| decreased hemoglobin content | 1 |
| decreased erythrocyte cell number | 1 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Xenopus laevis | A2VDD2 | 96.0% | Diamond |
| Bos taurus | Q32P71 | 94.1% | Diamond |
| Sus scrofa | Q4VYA0 | 80.1% | Diamond |
| Danio rerio | Q66IC8 | 70.5% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| PLK3 | protein-coding | 1263 |
| BTBD19 | protein-coding | 149478 |
| PTCH2 | protein-coding | 8643 |
| EIF2B3 | protein-coding | 8891 |
| BEST4 | protein-coding | 266675 |
| RPS8 | protein-coding | 6202 |
| SNORD38A | snoRNA | 94162 |
| SNORD38B | snoRNA | 94163 |
Protein
Protein identifiers
Dynein light chain Tctex-type 4 — Q5JR98 (reviewed: Q5JR98)
Alternative names: Protein N22.1, Tctex-2-beta, Tctex1 domain-containing protein 4
All UniProt accessions (1): Q5JR98
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Interacts with ENG/endoglin, TGFBR2 and TGFBR3. Interacts with PPP1CC.
Subcellular location. Cell projection. Cilium. Flagellum. Cytoplasmic vesicle. Secretory vesicle. Acrosome. Cytoplasm. Cytoskeleton. Cilium axoneme. Nucleus. Microtubule organizing center.
Tissue specificity. Ubiquitously expressed. Expressed in testis (at protein level).
Similarity. Belongs to the dynein light chain Tctex-type family.
RefSeq proteins (4): NP_001013654, NP_001364463, NP_001364464, NP_001364465 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005334 | Tctex-1-like | Family |
| IPR038586 | Tctex-1-like_sf | Homologous_superfamily |
Pfam: PF03645
UniProt features (8 total): region of interest 2, mutagenesis site 2, chain 1, compositionally biased region 1, modified residue 1, sequence variant 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5JR98-F1 | 74.02 | 0.48 |
Human Protein Atlas
Protein class: Predicted intracellular proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): vesicles
Antibody reliability (HPA): IH enhanced · IF supported
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1)
| Type | Positions |
|---|---|
| Phosphoserine | 66 |
Mutagenesis-validated functional residues (2)
| Position | Phenotype |
|---|---|
| 90–93 | partially reduces the binding to pp1cc. |
| 93 | decreased colocalization with ppp1cc by 27%. |
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
MSigDB gene sets: 60 (showing top):
GOCC_SECRETORY_GRANULE, GOCC_MICROTUBULE_ORGANIZING_CENTER, chr1p34, GOCC_CYTOPLASMIC_REGION, GOCC_SECRETORY_VESICLE, GOCC_MOTILE_CILIUM, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_CYTOPLASMIC_DYNEIN_COMPLEX, GOCC_DYNEIN_COMPLEX, GOCC_ACROSOMAL_VESICLE, GOCC_CILIUM, GOMF_PROTEIN_PHOSPHATASE_BINDING, GOMF_PHOSPHATASE_BINDING, GOMF_PROTEIN_PHOSPHATASE_1_BINDING
GO Biological Process (1): microtubule-based movement (GO:0007018)
GO Molecular Function (3): protein phosphatase 1 binding (GO:0008157), dynein intermediate chain binding (GO:0045505), protein binding (GO:0005515)
GO Cellular Component (9): acrosomal vesicle (GO:0001669), nucleus (GO:0005634), cytoplasm (GO:0005737), microtubule organizing center (GO:0005815), cytoplasmic dynein complex (GO:0005868), axoneme (GO:0005930), sperm flagellum (GO:0036126), cytoplasmic vesicle (GO:0031410), motile cilium (GO:0031514)
GO top-level categories
17 GO namespaces:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| microtubule-based process | 1 |
| protein phosphatase binding | 1 |
| protein binding | 1 |
| binding | 1 |
| secretory granule | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| microtubule cytoskeleton | 1 |
| dynein complex | 1 |
| cytoskeleton | 1 |
| microtubule | 1 |
| ciliary plasm | 1 |
| 9+2 motile cilium | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| cilium | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 5 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).
5 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| acrosomal vesicle | CC | direct assay |
| axoneme | CC | direct assay |
| microtubule organizing center | CC | direct assay |
| sperm flagellum | CC | direct assay |
| protein phosphatase 1 binding | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 1,006 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DYNLT4 | DYNLT1 | P63172 | 878 |
| DYNLT4 | ENG | P17813 | 700 |
| DYNLT4 | TGFBR2 | P37173 | 540 |
| DYNLT4 | DYNC1LI2 | O43237 | 513 |
| DYNLT4 | DYNLT3 | P51808 | 486 |
| DYNLT4 | DYNLRB2 | Q8TF09 | 483 |
| DYNLT4 | DYNC2LI1 | Q8TCX1 | 476 |
| DYNLT4 | DYNC1I1 | O14576 | 469 |
| DYNLT4 | ESD | P10768 | 469 |
| DYNLT4 | DYNC1LI1 | Q9Y6G9 | 468 |
| DYNLT4 | HIVEP3 | Q5T1R4 | 453 |
| DYNLT4 | DYNLL2 | Q96FJ2 | 442 |
| DYNLT4 | DYNLRB1 | Q9NP97 | 416 |
| DYNLT4 | C1orf21 | Q9H246 | 390 |
| DYNLT4 | DYNLT5 | Q8N7M0 | 375 |
IntAct
Human interaction partners of DYNLT4 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
6 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| MDFI | physical association | 0.560 | 3 |
| PPP1CC | physical association | 0.510 | 5 |
| PPP1CA | physical association | 0.370 | 1 |
| BAG3 | association | 0.350 | 1 |
| NPR1 | association | 0.350 | 1 |
| TRO | association | 0.350 | 1 |
Disease & clinical
Genetic variants
Variant evidence for DYNLT4: 61 ClinVar records (0 pathogenic / likely pathogenic).
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 2 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 14 predictions of 154):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 1:44807269 | donor_gain | 0.8600 | |
| 1:44806680 | acceptor_gain | 0.7400 | |
| 1:44806782–44806783 | donor_loss | 0.7400 | 4 |
| 1:44806783 | donor_loss | 0.7300 | |
| 1:44806680 | acceptor_gain | 0.7100 | |
| 1:44806681 | acceptor_gain | 0.6900 | 2 |
| 1:44806782 | donor_loss | 0.6800 | |
| 1:44807329 | donor_gain | 0.6700 | |
| 1:44806361 | acceptor_gain | 0.6400 | |
| 1:44807246 | donor_gain | 0.6100 |
AlphaMissense
119 missense substitutions predicted likely pathogenic (of 1,364 scored), across 44 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| D197 | 8 | 0.737 | 0.842 |
| F210 | 7 | 0.862 | 0.972 |
| W192 | 6 | 0.770 | 0.834 |
| S188 | 5 | 0.855 | 0.927 |
| K169 | 5 | 0.819 | 0.944 |
| W118 | 5 | 0.812 | 0.845 |
| D193 | 5 | 0.632 | 0.658 |
| N206 | 4 | 0.828 | 0.877 |
| G177 | 4 | 0.792 | 0.814 |
| Y219 | 4 | 0.681 | 0.799 |
| H216 | 4 | 0.661 | 0.774 |
| G217 | 4 | 0.639 | 0.742 |
| F93 | 3 | 0.820 | 0.820 |
| S173 | 3 | 0.745 | 0.745 |
| S92 | 3 | 0.744 | 0.744 |
| Y168 | 3 | 0.734 | 0.824 |
| C172 | 3 | 0.693 | 0.765 |
| F61 | 3 | 0.656 | 0.656 |
| L176 | 3 | 0.637 | 0.695 |
| C153 | 3 | 0.634 | 0.673 |
HPA cancer prognostics
RNA cancer specificity: Cancer enhanced (Uterine Corpus Endometrial Carcinoma)
Disease associations
OMIM: gene MIM:611713 | disease phenotypes:
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Smoke | increases abundance, increases expression | 2 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 210 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | Phase 4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | Phase 4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | Phase 3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | Phase 3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | Phase 3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | Phase 3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | Phase 2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | Phase 2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | Phase 2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | Phase 1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | Phase 1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | Phase 1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | Phase 2/3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | Phase 2/3 | COMPLETED | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | Early Phase 1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | COMPLETED | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
| NCT03381027 | Not specified | COMPLETED | BABY SMART (Study of Massage Therapy, Sleep And neurodevelopMenT) |
| NCT03388294 | Not specified | COMPLETED | Evaluation of a Novel Intervention for Infants At Risk for Neurodevelopmental Disorders |
| NCT03410810 | Not specified | UNKNOWN | Childhood Outcomes of Preterm Brain Abnormalities |
| NCT03492060 | Not specified | RECRUITING | Longitudinal Study of Neurogenetic Disorders |
| NCT03577756 | Not specified | COMPLETED | Neurodevelopmental Assessment of Infants With Cystic Fibrosis |
| NCT03654248 | Not specified | COMPLETED | Let’s Get Organized in Adult Psychiatric/habilitation Care |
| NCT03659279 | Not specified | COMPLETED | Let’s Get Organized Feasibility Study |
| NCT03722615 | Not specified | COMPLETED | Epidemiology of Congenital Cytomegalovirus in a High HIV Prevalence Setting, South Africa |
| NCT03770832 | Not specified | ACTIVE_NOT_RECRUITING | Wearable Sensors and Video Recordings to Monitor Motor Development |
| NCT03830879 | Not specified | RECRUITING | Shenzhen Birth Cohort Study |
| NCT03835689 | Not specified | COMPLETED | Strongest FamiliesTM Neurodevelopmental |
| NCT03882788 | Not specified | COMPLETED | The Effect of Anesthesia on Neurodevelopmental Outcome (NDO) |
| NCT03922087 | Not specified | COMPLETED | No-worry Baby Project |
| NCT03977259 | Not specified | ACTIVE_NOT_RECRUITING | Targeting Human Milk Fortification to Improve Preterm Infant Growth and Brain Development |
| NCT04043572 | Not specified | UNKNOWN | The Biomarkers of Neurological Disease in Utero Study |
| NCT04096430 | Not specified | RECRUITING | Evaluation of Effectiveness of Child-oriented Goal-setting in Paediatric Rehabilitation (the ENGAGE Approach) |
| NCT04108273 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children |
| NCT04201509 | Not specified | COMPLETED | Validity of Neurocognitive Assessment Methods in Childhood ADHD |
| NCT04233775 | Not specified | UNKNOWN | Altered Cerebral Growth and Development in Infants With Congenital Heart Disease |
| NCT04313283 | Not specified | COMPLETED | Translating Peer-to-Peer Support Into a Clinical Setting |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.