DYNLT4

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 several cellular components, including acrosomal vesicle; cytoskeleton; and sperm flagellum.

Source: NCBI Gene 343521 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_001377534

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: 11 — 11 protein_coding

ENST00000339355, ENST00000675259, ENST00000854447, ENST00000854448, ENST00000854449, ENST00000854450, ENST00000854451, ENST00000854452, ENST00000854453, ENST00000942935, ENST00000942936

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.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12096	0.6943	220
12095	0.0472	18

Top tissues by expression

127 total, 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

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

Regulation

Is transcription factor: no

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)

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

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JR98-F1	74.02	0.48

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): 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 pathways

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 (13): acrosomal vesicle (GO:0001669), nucleus (GO:0005634), nucleolus (GO:0005730), cytoplasm (GO:0005737), microtubule organizing center (GO:0005815), cytoplasmic dynein complex (GO:0005868), axoneme (GO:0005930), sperm flagellum (GO:0036126), cytoskeleton (GO:0005856), cilium (GO:0005929), cytoplasmic vesicle (GO:0031410), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular membraneless organelle	2
microtubule-based process	1
protein phosphatase binding	1
protein binding	1
binding	1
secretory granule	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
dynein complex	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoplasm	1
intracellular vesicle	1
cilium	1

Protein interactions and networks

STRING

383 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DYNLT4	DYNLT1	P63172	917
DYNLT4	ENG	P17813	732
DYNLT4	TGFBR2	P37173	596
DYNLT4	TRIP6	Q15654	535
DYNLT4	GIPC1	O14908	518
DYNLT4	DYNLRB2	Q8TF09	510
DYNLT4	DYNC1LI2	O43237	504
DYNLT4	ZYX	Q15942	493
DYNLT4	ESD	P10768	468
DYNLT4	DYNC1LI1	Q9Y6G9	462
DYNLT4	DYNC2LI1	Q8TCX1	460
DYNLT4	DYNC1I1	O14576	452
DYNLT4	HPDL	Q96IR7	446
DYNLT4	DYNLRB1	Q9NP97	446
DYNLT4	DNAL4	O96015	443

IntAct

14 interactions, top by confidence:

A	B	Type	Score
DYNLT4	MDFI	psi-mi:“MI:0915”(physical association)	0.560
SPATA25	TAF4	psi-mi:“MI:0914”(association)	0.530
PPP1CC	DYNLT4	psi-mi:“MI:0915”(physical association)	0.510
PPP1CC	DYNLT4	psi-mi:“MI:0915”(physical association)	0.370
DYNLT4	PPP1CC	psi-mi:“MI:0915”(physical association)	0.370
DYNLT4	PPP1CA	psi-mi:“MI:0915”(physical association)	0.370
DYNLT4	TRO	psi-mi:“MI:0914”(association)	0.350
DYNLT4	BAG3	psi-mi:“MI:0914”(association)	0.350
DYNLT4	NPR1	psi-mi:“MI:0914”(association)	0.350
DYNLT4	MDFI	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): TCTEX1D4 (Two-hybrid), ABHD17B (Affinity Capture-MS), TCTEX1D2 (Affinity Capture-MS), TRO (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), WDR34 (Affinity Capture-MS), WDR60 (Affinity Capture-MS), BAG3 (Affinity Capture-MS), GGT7 (Affinity Capture-MS), FIS1 (Affinity Capture-MS), GET4 (Affinity Capture-MS), DYNLT1 (Affinity Capture-MS), PRSS8 (Affinity Capture-MS), TCTEX1D4 (PCA), TCTEX1D4 (Two-hybrid)

ESM2 similar proteins: A3KN25, A6H687, A6NE52, A6NKF1, A6QQ91, A8MYJ7, D2HS90, E1BD59, O08580, O09017, O75064, O75427, O94812, P0C5W1, P11474, P43136, P52824, P58660, Q08DF2, Q08DM2, Q1JPD6, Q2TBW5, Q3U0S6, Q3U1Y4, Q562E7, Q5BK61, Q5JR98, Q5JZY3, Q5QJV7, Q5U651, Q6F5E8, Q6QMY5, Q86YV0, Q8BYG9, Q8C052, Q8C2K5, Q8CDY7, Q8R5G7, Q8WWN8, Q96HA7

Diamond homologs: A2VDD2, Q32P71, Q3B8D7, Q4VYA0, Q54PG1, Q5JR98, Q66IC8, Q8CDY7, Q8N7M0, Q8WW35, Q9CQ66, Q9D5I4, F1QMY1, P11985, Q94524, Q9Z336, P63171, P63172

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

93 predictions. Top by Δscore:

Variant	Effect	Δscore
1:44806465:G:GT	donor_gain	0.6700
1:44806540:TGG:T	donor_gain	0.6600
1:44806547:G:A	donor_gain	0.6500
1:44806536:G:GT	donor_gain	0.6400
1:44806158:CCAG:C	donor_gain	0.5700
1:44806036:C:CT	acceptor_gain	0.5600
1:44806396:G:T	donor_gain	0.5600
1:44806440:G:T	donor_gain	0.5500
1:44806542:G:T	donor_gain	0.5300
1:44806153:GCATA:G	donor_loss	0.5100
1:44806155:ATAC:A	donor_loss	0.5100
1:44806156:TACC:T	donor_loss	0.5100
1:44806157:A:AC	donor_gain	0.5100
1:44806158:C:CC	donor_gain	0.5100
1:44806158:C:CT	donor_loss	0.5100
1:44806199:TGC:T	donor_gain	0.4700
1:44805999:C:A	donor_gain	0.4100
1:44806157:ACCAG:A	donor_gain	0.4000
1:44806158:CCAGC:C	donor_gain	0.4000
1:44806534:TGG:T	donor_gain	0.4000
1:44806161:G:C	donor_gain	0.3900
1:44806197:CGT:C	donor_gain	0.3900
1:44806198:GTG:G	donor_gain	0.3900
1:44805998:C:CA	donor_gain	0.3800
1:44806217:TCCCG:T	donor_gain	0.3800
1:44806218:C:CA	donor_gain	0.3800
1:44806218:CCCGC:C	donor_gain	0.3800
1:44806535:GG:G	donor_gain	0.3700
1:44806456:G:A	donor_gain	0.3600
1:44806594:CGG:C	donor_gain	0.3600

AlphaMissense

1364 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:44806039:G:C	F210L	0.972
1:44806039:G:T	F210L	0.972
1:44806041:A:G	F210L	0.972
1:44806162:C:A	K169N	0.944
1:44806162:C:G	K169N	0.944
1:44806025:A:T	V215D	0.937
1:44806105:G:C	S188R	0.927
1:44806105:G:T	S188R	0.927
1:44806107:T:G	S188R	0.927
1:44806037:G:T	A211E	0.886
1:44806031:G:T	A213D	0.882
1:44806052:T:A	N206I	0.877
1:44806040:A:G	F210S	0.863
1:44806040:A:C	F210C	0.849
1:44806315:C:A	W118C	0.845
1:44806315:C:G	W118C	0.845
1:44806079:T:A	D197V	0.842
1:44806093:C:A	W192C	0.834
1:44806093:C:G	W192C	0.834
1:44806148:A:T	V174E	0.832
1:44806078:A:C	D197E	0.830
1:44806078:A:T	D197E	0.830
1:44806167:A:C	Y168D	0.824
1:44806317:A:G	W118R	0.824
1:44806317:A:T	W118R	0.824
1:44806080:C:G	D197H	0.822
1:44806390:G:C	F93L	0.820
1:44806390:G:T	F93L	0.820
1:44806392:A:G	F93L	0.820
1:44806051:G:C	N206K	0.818

dbSNP variants (sampled 300 via entrez): RS1000516764 (1:44806329 G>A), RS1001246064 (1:44808234 AT>A), RS1001294697 (1:44807241 C>G), RS1001842731 (1:44808454 G>GC), RS1002966543 (1:44808518 C>G), RS1004368945 (1:44805999 C>G,T), RS1004888011 (1:44807637 G>A,T), RS1005634015 (1:44807298 C>G), RS1005893556 (1:44808601 C>T), RS1007251392 (1:44809166 C>A,G), RS1007474816 (1:44808856 T>C), RS1007691687 (1:44808672 C>A,G), RS1007873549 (1:44806295 C>T), RS1009755168 (1:44809029 G>A), RS1010089839 (1:44807959 C>CTGGT)

Disease associations

OMIM: gene MIM:611713 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

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	increases expression, affects cotreatment	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)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	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	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	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	ACTIVE_NOT_RECRUITING	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