KLC4

Summary

KLC4 (kinesin light chain 4, HGNC:21624) is a protein-coding gene on chromosome 6p21.1, encoding Kinesin light chain 4 (Q9NSK0). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.

Predicted to enable kinesin binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in microtubule. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm.

Source: NCBI Gene 89953 — RefSeq curated summary.

At a glance

• Gene–disease (curated): early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 120 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 31
• MANE Select transcript: NM_201521

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21624
Approved symbol	KLC4
Name	kinesin light chain 4
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	bA387M24.3
Ensembl gene	ENSG00000137171
Ensembl biotype	protein_coding
OMIM	620909
Entrez	89953

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 42 protein_coding, 5 retained_intron, 3 nonsense_mediated_decay

ENST00000259708, ENST00000347162, ENST00000394056, ENST00000453940, ENST00000458460, ENST00000460283, ENST00000463063, ENST00000463168, ENST00000467906, ENST00000468114, ENST00000469987, ENST00000470728, ENST00000472172, ENST00000472792, ENST00000479388, ENST00000479632, ENST00000481499, ENST00000481888, ENST00000486439, ENST00000905002, ENST00000905003, ENST00000905004, ENST00000905005, ENST00000905006, ENST00000905007, ENST00000905008, ENST00000905009, ENST00000905010, ENST00000905011, ENST00000905012, ENST00000905013, ENST00000905014, ENST00000905015, ENST00000905016, ENST00000905017, ENST00000905018, ENST00000928701, ENST00000928702, ENST00000928703, ENST00000928704, ENST00000928705, ENST00000945947, ENST00000945948, ENST00000945949, ENST00000945950, ENST00000945951, ENST00000945952, ENST00000945953, ENST00000945954, ENST00000945955

RefSeq mRNA: 6 — MANE Select: NM_201521 NM_001289034, NM_001289035, NM_138343, NM_201521, NM_201522, NM_201523

CCDS: CCDS47429, CCDS4882, CCDS4883, CCDS75459

Canonical transcript exons

ENST00000347162 — 16 exons

Exon	Start	End
ENSE00001857391	43074622	43075093
ENSE00001861736	43059631	43059685
ENSE00003469526	43070692	43070865
ENSE00003476023	43071275	43071374
ENSE00003488048	43073223	43073338
ENSE00003498980	43066306	43066525
ENSE00003519174	43062917	43063147
ENSE00003519580	43072147	43072255
ENSE00003539457	43061311	43061593
ENSE00003541538	43071567	43071619
ENSE00003556776	43073902	43073965
ENSE00003581670	43065620	43065701
ENSE00003633101	43072824	43072964
ENSE00003645370	43071852	43071922
ENSE00003667895	43070354	43070455
ENSE00003789566	43066996	43067083

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 97.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9393 / max 99.0182, expressed in 1723 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67855	5.3853	1656
203996	0.8258	519
67857	0.4134	72
67856	0.2721	126
203997	0.0428	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	97.56	gold quality
mucosa of transverse colon	UBERON:0004991	97.02	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.96	gold quality
cerebellar hemisphere	UBERON:0002245	95.93	gold quality
cerebellar cortex	UBERON:0002129	95.83	gold quality
transverse colon	UBERON:0001157	95.14	gold quality
ileal mucosa	UBERON:0000331	95.03	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.91	gold quality
cerebellum	UBERON:0002037	94.75	gold quality
apex of heart	UBERON:0002098	94.51	gold quality
small intestine	UBERON:0002108	94.09	gold quality
rectum	UBERON:0001052	94.06	gold quality
liver	UBERON:0002107	93.94	gold quality
right uterine tube	UBERON:0001302	93.75	gold quality
pituitary gland	UBERON:0000007	93.73	gold quality
adenohypophysis	UBERON:0002196	93.55	gold quality
metanephros cortex	UBERON:0010533	93.55	gold quality
right lobe of thyroid gland	UBERON:0001119	93.43	gold quality
pancreatic ductal cell	CL:0002079	93.29	silver quality
right frontal lobe	UBERON:0002810	93.07	gold quality
left lobe of thyroid gland	UBERON:0001120	92.94	gold quality
kidney epithelium	UBERON:0004819	92.77	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.74	silver quality
left ovary	UBERON:0002119	92.57	gold quality
body of stomach	UBERON:0001161	92.35	gold quality
intestine	UBERON:0000160	92.27	gold quality
cortex of kidney	UBERON:0001225	92.15	gold quality
left testis	UBERON:0004533	92.13	gold quality
thyroid gland	UBERON:0002046	92.07	gold quality
right testis	UBERON:0004534	92.01	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting KLC4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-3674	97.01	68.86	1171
HSA-MIR-3616-3P	96.96	65.45	983
HSA-MIR-4491	96.53	66.20	935
HSA-MIR-4657	96.53	66.57	895
HSA-MIR-1226-5P	96.50	65.28	643
HSA-MIR-3174	94.63	63.64	577

Literature-anchored findings (GeneRIF, showing 4)

• Data reveal aspects of the molecular mechanism of kinesin-8 motors that contribute to their unique dual motile and depolymerising functions, which are adapted to control microtubule length. (PMID:20818331)
• The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease. (PMID:26423925)
• Findings indicate that SET domain protein 3 (SETD3) down-regulated the expression of kinesin light chain 4 (KLC4), contributing to the radiosensitivity of cervical cancer cells, suggesting targeting SETD3 might be a potential strategy for the clinical management of cervical cancer. (PMID:31235251)
• Kinesin light chain 4 as a new target for lung cancer chemoresistance via targeted inhibition of checkpoint kinases in the DNA repair network. (PMID:32457423)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	klc3	ENSDARG00000055965
danio_rerio	klc4	ENSDARG00000086985
mus_musculus	Klc4	ENSMUSG00000003546
rattus_norvegicus	Klc4	ENSRNOG00000018168

Paralogs (5): APPBP2 (ENSG00000062725), KLC3 (ENSG00000104892), NPHP3 (ENSG00000113971), KLC1 (ENSG00000126214), KLC2 (ENSG00000174996)

Protein

Protein identifiers

Kinesin light chain 4 — Q9NSK0 (reviewed: Q9NSK0)

Alternative names: Kinesin-like protein 8

All UniProt accessions (8): C9J8T5, C9JQU1, C9JXT5, C9JZE5, C9K0D5, Q9NSK0, F8WCA4, H7C4M1

UniProt curated annotations — full annotation on UniProt →

Function. Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity.

Subunit / interactions. Oligomeric complex composed of two heavy chains and two light chains.

Subcellular location. Cytoplasm. Cytoskeleton.

Disease relevance. Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy (CONDRHN) [MIM:621129] An autosomal recessive, early-onset neurodegenerative disorder characterized by progressive walking difficulties with spasticity or ataxia resulting in loss of ambulation, retinitis pigmentosa causing progressive visual impairment and blindness, sensorineural hearing loss, demyelinating peripheral neuropathy, and severely impaired intellectual development with poor or absent speech. The disease may be caused by variants affecting the gene represented in this entry.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the kinesin light chain family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9NSK0-1	1	yes
Q9NSK0-2	2
Q9NSK0-3	3
Q9NSK0-4	4
Q9NSK0-5	5

RefSeq proteins (6): NP_001275963, NP_001275964, NP_612352, NP_958929, NP_958930, NP_958931 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002151	Kinesin_light	Family
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR015792	Kinesin_light_repeat	Repeat
IPR019734	TPR_rpt	Repeat

Pfam: PF13374, PF13424

UniProt features (34 total): modified residue 8, repeat 7, splice variant 6, sequence conflict 4, region of interest 3, compositionally biased region 2, initiator methionine 1, chain 1, coiled-coil region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NSK0-F1	72.78	0.43

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 (8): 2, 174, 460, 519, 565, 566, 590, 612

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-2132295	MHC class II antigen presentation
R-HSA-5625970	RHO GTPases activate KTN1
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189	Kinesins
R-HSA-109582	Hemostasis
R-HSA-1280218	Adaptive Immune System
R-HSA-162582	Signal Transduction
R-HSA-168256	Immune System
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-8856688	Golgi-to-ER retrograde transport
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3
R-HSA-983231	Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 201 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOCC_KINESIN_COMPLEX, TGACCTY_ERR1_Q2, REACTOME_MEMBRANE_TRAFFICKING, GGGTGGRR_PAX4_03, COUP_01, HNF4_DR1_Q3, CTGYNNCTYTAA_UNKNOWN, GOMF_CYTOSKELETAL_PROTEIN_BINDING, GOMF_KINESIN_BINDING, CHEN_METABOLIC_SYNDROM_NETWORK, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A

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

GO Molecular Function (2): kinesin binding (GO:0019894), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), kinesin complex (GO:0005871), microtubule (GO:0005874), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Adaptive Immune System	1
RHO GTPase Effectors	1
Golgi-to-ER retrograde transport	1
Factors involved in megakaryocyte development and platelet production	1
Immune System	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Vesicle-mediated transport	1
Membrane Trafficking	1
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Signal Transduction	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule-based process	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
microtubule associated complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

2198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KLC4	KIF5C	O60282	924
KLC4	MAPK8IP3	Q9UPT6	924
KLC4	KIF5A	Q12840	916
KLC4	KIF5B	P33176	907
KLC4	MAPK8IP1	Q9UQF2	906
KLC4	MAPK8IP2	Q13387	886
KLC4	HAP1	P54257	884
KLC4	CLSTN1	O94985	880
KLC4	APP	P05067	801
KLC4	PLEKHM2	Q8IWE5	769
KLC4	HTT	P42858	679
KLC4	TRAK2	O60296	645
KLC4	ARL5B	Q96KC2	645
KLC4	DPYSL2	Q16555	622
KLC4	KIF1A	Q12756	602

IntAct

197 interactions, top by confidence:

A	B	Type	Score
YWHAZ	KLC4	psi-mi:“MI:0915”(physical association)	0.870
YWHAQ	WDR62	psi-mi:“MI:0914”(association)	0.830
YWHAH	ABLIM1	psi-mi:“MI:0914”(association)	0.800
KRT31	KLC4	psi-mi:“MI:0915”(physical association)	0.780
KLC4	KRT31	psi-mi:“MI:0915”(physical association)	0.780
KRT31	HGS	psi-mi:“MI:0914”(association)	0.780
KLC1	KIF5B	psi-mi:“MI:0914”(association)	0.730
CDR2	KTN1	psi-mi:“MI:0914”(association)	0.730
KIF5B	KLC1	psi-mi:“MI:0914”(association)	0.730
KLC4	NECAB2	psi-mi:“MI:0915”(physical association)	0.720
KLC4	KATNAL1	psi-mi:“MI:0915”(physical association)	0.720
NECAB2	KLC4	psi-mi:“MI:0915”(physical association)	0.720
KATNAL1	KLC4	psi-mi:“MI:0915”(physical association)	0.720
KLC4	SYNE4	psi-mi:“MI:0915”(physical association)	0.670
AZIN1	OAZ2	psi-mi:“MI:0914”(association)	0.670
KLC4	YWHAE	psi-mi:“MI:0915”(physical association)	0.650
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
NUP43	NUP98	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610

BioGRID (211): KLC4 (Two-hybrid), KLC4 (Two-hybrid), KLC4 (Two-hybrid), KLC4 (Two-hybrid), KLC4 (Two-hybrid), KLC4 (Two-hybrid), KLC4 (Two-hybrid), KLC4 (Two-hybrid), KLC4 (Two-hybrid), KLC4 (Two-hybrid), SYNE4 (Two-hybrid), SLC16A9 (Two-hybrid), CEP57L1 (Two-hybrid), KLC4 (Affinity Capture-MS), KLC4 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I6A2H6, A2AQ19, A4IG32, A5D7A0, D4A1F2, F1MF74, O12940, O14730, O35685, O43395, O43815, O55106, O60784, O88448, O88746, O94851, P08057, P13789, P19429, P50751, P70483, P97366, Q13435, Q17QG2, Q17QM6, Q1RMT7, Q2KIA6, Q3UJB0, Q4FZY0, Q5PQM2, Q5PYI0, Q5R5F1, Q5RDI4, Q63525, Q863B6, Q86XE3, Q8BML1, Q8MKD5, Q922U1, Q92541

Diamond homologs: O88447, O88448, P37285, P46822, P46824, P46825, Q05090, Q07866, Q2HJJ0, Q2TBQ9, Q5PQM2, Q5R581, Q5R8E2, Q68G30, Q6P597, Q91W40, Q9DBS5, Q9H0B6, Q9NSK0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 125 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	8	65.5×	5e-11
Activation of BAD and translocation to mitochondria	7	65.0×	7e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	57.4×	1e-09
Activation of BH3-only proteins	7	42.4×	1e-08
RHO GTPases activate PKNs	7	27.1×	2e-07
Intrinsic Pathway for Apoptosis	7	25.0×	3e-07
FOXO-mediated transcription	5	20.5×	7e-05
SARS-CoV-1-host interactions	8	17.1×	5e-07

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	8	25.5×	7e-07
protein targeting	7	23.7×	7e-06
microtubule-based movement	6	16.4×	3e-04
intermediate filament organization	7	15.6×	9e-05
negative regulation of TORC1 signaling	5	15.0×	2e-03
epithelial cell differentiation	6	9.8×	4e-03
intracellular protein localization	9	8.7×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	98
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3772694	NM_201521.3(KLC4):c.799_817del (p.Asn267fs)	Pathogenic
1334583	NM_201521.3(KLC4):c.553G>T (p.Glu185Ter)	Likely pathogenic

SpliceAI

6634 predictions. Top by Δscore:

Variant	Effect	Δscore
6:43040913:A:AC	donor_gain	1.0000
6:43040914:C:CC	donor_gain	1.0000
6:43040914:CT:C	donor_gain	1.0000
6:43040914:CTG:C	donor_gain	1.0000
6:43040914:CTGGT:C	donor_gain	1.0000
6:43041071:CTCAC:C	acceptor_gain	1.0000
6:43041072:TCAC:T	acceptor_gain	1.0000
6:43041073:CAC:C	acceptor_gain	1.0000
6:43041073:CACC:C	acceptor_gain	1.0000
6:43041074:AC:A	acceptor_gain	1.0000
6:43041074:ACC:A	acceptor_loss	1.0000
6:43041075:CC:C	acceptor_gain	1.0000
6:43041083:A:AC	acceptor_gain	1.0000
6:43042800:A:AC	donor_gain	1.0000
6:43042801:C:CC	donor_gain	1.0000
6:43042983:ACCT:A	acceptor_loss	1.0000
6:43042984:CCTG:C	acceptor_loss	1.0000
6:43042985:C:A	acceptor_loss	1.0000
6:43042986:T:C	acceptor_loss	1.0000
6:43043069:CCCA:C	donor_loss	1.0000
6:43043070:CCAC:C	donor_loss	1.0000
6:43043071:CA:C	donor_loss	1.0000
6:43043072:ACC:A	donor_loss	1.0000
6:43043073:CCTGC:C	donor_loss	1.0000
6:43043177:CCTT:C	acceptor_loss	1.0000
6:43043178:CTT:C	acceptor_gain	1.0000
6:43043179:TT:T	acceptor_gain	1.0000
6:43043179:TTCT:T	acceptor_loss	1.0000
6:43043180:TC:T	acceptor_loss	1.0000
6:43043181:C:CC	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000433413 (6:43072965 G>A), RS1000539582 (6:43067405 G>A,C), RS1000810369 (6:43060798 G>A), RS1001398014 (6:43068300 C>T), RS1001765872 (6:43068512 G>A,T), RS1001903542 (6:43072698 G>T), RS1002371743 (6:43071467 G>A), RS1002704714 (6:43059099 T>A), RS1002790431 (6:43071686 G>A), RS1002817891 (6:43062507 G>A), RS1003024272 (6:43068809 T>C), RS1003149481 (6:43063576 G>A), RS1003236245 (6:43058211 T>C), RS1003724330 (6:43063221 C>T), RS1003846183 (6:43070165 T>C)

Disease associations

OMIM: gene MIM:620909 | disease phenotypes: MIM:621129

GenCC curated gene-disease

Disease	Classification	Inheritance
early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy	Limited	Autosomal recessive

Mondo (1): early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy (MONDO:0700288)

Orphanet (0):

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000543	Optic disc pallor
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000666	Horizontal nystagmus
HP:0000762	Decreased nerve conduction velocity
HP:0001256	Mild intellectual disability
HP:0001257	Spasticity
HP:0001271	Polyneuropathy
HP:0001288	Gait disturbance
HP:0001999	Abnormal facial shape
HP:0002066	Gait ataxia
HP:0002151	Increased circulating lactate concentration
HP:0002169	Clonus
HP:0002395	Lower limb hyperreflexia
HP:0002505	Loss of ambulation
HP:0002967	Cubitus valgus
HP:0002987	Elbow flexion contracture
HP:0003484	Upper limb muscle weakness
HP:0003487	Babinski sign
HP:0006380	Knee flexion contracture
HP:0006466	Ankle flexion contracture
HP:0007340	Lower limb muscle weakness
HP:0007663	Reduced visual acuity
HP:0010864	Severe intellectual disability
HP:0011463	Childhood onset
HP:0030211	Slow pupillary light response
HP:0034392	Joint contracture

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010083_171	Hemoglobin levels	1.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation	4
bisphenol A	increases expression, affects expression, decreases expression	3
Acetaminophen	decreases expression	2
Quercetin	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
beta-lapachone	decreases expression, increases expression	1
tetrabromobisphenol A	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	increases expression	1
Leflunomide	decreases expression	1
Arsenic	affects methylation	1
Vehicle Emissions	decreases expression, decreases reaction	1
Caffeine	affects phosphorylation	1
Cuprizone	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	decreases expression	1
Haloperidol	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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