DYNLT2B

Summary

DYNLT2B (dynein light chain Tctex-type 2B, HGNC:28482) is a protein-coding gene on chromosome 3q29, encoding Dynein light chain Tctex-type protein 2B (Q8WW35). Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system.

Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 255758 — RefSeq curated summary.

At a glance

• Gene–disease (curated): short-rib thoracic dysplasia 17 with or without polydactyly (Strong, GenCC)
• Clinical variants (ClinVar): 90 total — 9 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 13
• MANE Select transcript: NM_152773

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28482
Approved symbol	DYNLT2B
Name	dynein light chain Tctex-type 2B
Location	3q29
Locus type	gene with protein product
Status	Approved
Aliases	MGC33212
Ensembl gene	ENSG00000213123
Ensembl biotype	protein_coding
OMIM	617353
Entrez	255758

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000325318, ENST00000426563, ENST00000446494, ENST00000465757, ENST00000491186, ENST00000931282, ENST00000931283, ENST00000931284, ENST00000943620

RefSeq mRNA: 2 — MANE Select: NM_152773 NM_001351628, NM_152773

CCDS: CCDS33929

Canonical transcript exons

ENST00000325318 — 5 exons

Exon	Start	End
ENSE00001506975	196318040	196318240
ENSE00003484696	196296006	196296069
ENSE00003648804	196291219	196291374
ENSE00003709844	196306943	196307012
ENSE00003709845	196316098	196316231

Expression profiles

Bgee: expression breadth ubiquitous, 135 present calls, max score 97.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5024 / max 351.3502, expressed in 1716 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46339	14.9576	1689
46340	4.0474	1500
46341	1.4973	933

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	97.96	gold quality
cortical plate	UBERON:0005343	95.97	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.60	gold quality
nucleus accumbens	UBERON:0001882	94.93	gold quality
hypothalamus	UBERON:0001898	94.09	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.97	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.87	gold quality
right testis	UBERON:0004534	93.63	gold quality
caudate nucleus	UBERON:0001873	93.52	gold quality
left testis	UBERON:0004533	93.45	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.45	gold quality
ganglionic eminence	UBERON:0004023	93.43	gold quality
anterior cingulate cortex	UBERON:0009835	93.23	gold quality
amygdala	UBERON:0001876	93.22	gold quality
temporal lobe	UBERON:0001871	93.17	gold quality
testis	UBERON:0000473	92.92	gold quality
putamen	UBERON:0001874	92.76	gold quality
right frontal lobe	UBERON:0002810	92.70	gold quality
ventricular zone	UBERON:0003053	92.53	gold quality
cerebral cortex	UBERON:0000956	92.43	gold quality
brain	UBERON:0000955	92.31	gold quality
Ammon’s horn	UBERON:0001954	92.25	gold quality
primary visual cortex	UBERON:0002436	91.80	gold quality
superior frontal gyrus	UBERON:0002661	91.61	gold quality
frontal cortex	UBERON:0001870	91.56	gold quality
cerebellar hemisphere	UBERON:0002245	91.43	gold quality
cerebellar cortex	UBERON:0002129	91.32	gold quality
pituitary gland	UBERON:0000007	91.23	gold quality
cerebellum	UBERON:0002037	91.17	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.06	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	61.28
E-HCAD-1	yes	27.45
E-MTAB-10287	yes	27.02
E-ANND-3	yes	9.66
E-MTAB-9388	yes	7.12
E-MTAB-7606	no	416.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting DYNLT2B, 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-12136	99.98	72.81	5713
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-520E-5P	99.27	68.90	1513
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-6755-3P	98.61	66.90	834
HSA-MIR-5000-5P	97.40	66.11	1055

Literature-anchored findings (GeneRIF, showing 3)

• Tctex1d2 is a novel dynein light chain important for trafficking to the cilium and potentially retrograde intraflagellar transport. (PMID:25830415)
• integral component of the evolutionarily conserved retrograde intraflagellar transport machinery (PMID:26044572)
• WDR60 plays a major role and TCTEX1D2 plays an auxiliary role in the dynein-2 complex to mediate retrograde ciliary protein trafficking. (PMID:29742051)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	dynlt2b	ENSDARG00000054255
mus_musculus	Dynlt2b	ENSMUSG00000014075
rattus_norvegicus	Dynlt2b-ps1	ENSRNOG00000000630
rattus_norvegicus	Dynlt2b	ENSRNOG00000001758
drosophila_melanogaster	CG14763	FBGN0033243
caenorhabditis_elegans		WBGENE00017014

Paralogs (5): DYNLT1 (ENSG00000146425), DYNLT5 (ENSG00000152760), DYNLT3 (ENSG00000165169), DYNLT2 (ENSG00000184786), DYNLT4 (ENSG00000188396)

Protein

Protein identifiers

Dynein light chain Tctex-type protein 2B — Q8WW35 (reviewed: Q8WW35)

Alternative names: Tctex1 domain-containing protein 2

All UniProt accessions (3): E7ER86, F8WD40, Q8WW35

UniProt curated annotations — full annotation on UniProt →

Function. Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system. Required for proper retrograde ciliary transport.

Subunit / interactions. Light chain of the cytoplasmic dynein complex 2, a multisubunit complex composed at least of eleven different proteins. The cytoplasmic dynein 2 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs). Among them, a heavy chain (DYNC2H1), two intermediate chains (DYNC2I2 and DYNC2I1), a light intermediate chain (DYNC2LI1), and a light chain (DYNLT2B) are unique to the dynein-2 complex, but a subset of the light chains are also shared by dynein-1 and dynein-2 complexes. Interacts with DYNC2I1. The dimer DYNLT2B-DYNLT1/DYNLT3 interacts with DYNC2I1; this interaction is crucial for retrograde trafficking of ciliary proteins.

Subcellular location. Dynein axonemal particle.

Disease relevance. Short-rib thoracic dysplasia 17 with or without polydactyly (SRTD17) [MIM:617405] A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a ’trident’ appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. The disease is caused by variants affecting the gene represented in this entry.

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

RefSeq proteins (2): NP_001338557, NP_689986* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005334	Tctex-1-like	Family
IPR038586	Tctex-1-like_sf	Homologous_superfamily

Pfam: PF03645

UniProt features (13 total): strand 5, helix 4, chain 1, sequence variant 1, turn 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8RGI	X-RAY DIFFRACTION	2.02
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WW35-F1	86.89	0.72

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5620924	Intraflagellar transport

MSigDB gene sets: 195 (showing top): GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_CILIUM_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOCC_CENTROSOME, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, GOBP_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_CILIUM_ASSEMBLY

GO Biological Process (5): microtubule-based movement (GO:0007018), intraciliary retrograde transport (GO:0035721), cilium assembly (GO:0060271), regulation of cilium assembly (GO:1902017), regulation of intraciliary retrograde transport (GO:1905799)

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

GO Cellular Component (9): cytoplasm (GO:0005737), cytoplasmic dynein complex (GO:0005868), cilium (GO:0005929), dynein axonemal particle (GO:0120293), spindle pole (GO:0000922), centrosome (GO:0005813), axoneme (GO:0005930), interphase microtubule organizing center (GO:0031021), ciliary base (GO:0097546)

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	4
microtubule organizing center	2
microtubule-based process	1
intraciliary transport	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cilium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
regulation of organelle assembly	1
regulation of intracellular transport	1
intraciliary retrograde transport	1
regulation of microtubule-based movement	1
protein binding	1
binding	1
intracellular anatomical structure	1
dynein complex	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoplasm	1
intracellular membraneless organelle	1
spindle	1
centriole	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cilium	1
ciliary transition zone	1
ciliary transition fiber	1

Protein interactions and networks

STRING

713 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DYNLT2B	DYNC2I1	Q8WVS4	922
DYNLT2B	DYNC2LI1	Q8TCX1	904
DYNLT2B	DYNC2I2	Q96EX3	874
DYNLT2B	DYNC2H1	Q8NCM8	866
DYNLT2B	DYNLRB1	Q9NP97	737
DYNLT2B	DYNLT3	P51808	709
DYNLT2B	DYNLRB2	Q8TF09	703
DYNLT2B	SMCO1	Q147U7	649
DYNLT2B	WDR53	Q7Z5U6	643
DYNLT2B	DYNLL2	Q96FJ2	642
DYNLT2B	CEP120	Q8N960	623
DYNLT2B	WDR19	Q8NEZ3	618
DYNLT2B	DYNLT1	P63172	605
DYNLT2B	IFT140	Q96RY7	604
DYNLT2B	DYNLL1	P63167	587

IntAct

57 interactions, top by confidence:

A	B	Type	Score
DYNLT1	DYNLT2B	psi-mi:“MI:0915”(physical association)	0.790
DYNLT2B	DYNLT1	psi-mi:“MI:0914”(association)	0.790
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
DYNLT1	DYNC1LI2	psi-mi:“MI:0914”(association)	0.640
DYNC2I2	DYNLL1	psi-mi:“MI:0914”(association)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
ACTN2	DYNLT2B	psi-mi:“MI:0915”(physical association)	0.560
CDKN2D	DYNLT2B	psi-mi:“MI:0915”(physical association)	0.560
DYNLT2B	SNX2	psi-mi:“MI:0914”(association)	0.530
COMMD10	VPS26C	psi-mi:“MI:0914”(association)	0.530
DEFB121	COL6A2	psi-mi:“MI:0914”(association)	0.530
GTF2F2	DYNLT2B	psi-mi:“MI:0915”(physical association)	0.520
DYNLRB2	PAFAH1B1	psi-mi:“MI:0914”(association)	0.510
DYNLT2B	TIPRL	psi-mi:“MI:0914”(association)	0.510
DYNC2I1	ZRANB2	psi-mi:“MI:0914”(association)	0.510
DYNLT2B	CSNK2B	psi-mi:“MI:0915”(physical association)	0.370
PPP2CB	DYNLT2B	psi-mi:“MI:0915”(physical association)	0.370
TK1	DYNLT2B	psi-mi:“MI:0915”(physical association)	0.370
VWA2	WDR47	psi-mi:“MI:0914”(association)	0.350
ABHD17A	DYNLT2B	psi-mi:“MI:0914”(association)	0.350
DYNC2LI1	DYNLT1	psi-mi:“MI:0914”(association)	0.350
LETM2	GAPDHS	psi-mi:“MI:0914”(association)	0.350
NDUFB3	NDUFS4	psi-mi:“MI:0914”(association)	0.350

BioGRID (60): TCTEX1D2 (Affinity Capture-MS), TCTEX1D2 (Proximity Label-MS), TCTEX1D2 (Two-hybrid), WDR60 (Affinity Capture-MS), TCTEX1D2 (Affinity Capture-MS), TCTEX1D2 (Affinity Capture-MS), WDR34 (Affinity Capture-MS), TCTEX1D2 (Affinity Capture-MS), TCTEX1D2 (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), CLMN (Affinity Capture-MS), ABTB2 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX2 (Affinity Capture-MS), TCTEX1D2 (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: A2VDD2, Q32P71, Q3B8D7, Q4VYA0, Q54PG1, Q5JR98, Q66IC8, Q8CDY7, Q8N7M0, Q8WW35, Q9CQ66, Q9D5I4, F1QMY1, P11985, P51807, Q8IZS6, Q94524, P51808, P56387, P63171, P63172, Q5NVF5, Q6XXL8, Q8SPS9, Q9Z336

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 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
Intraflagellar transport	7	43.8×	4e-08
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	5	18.2×	4e-04
Resolution of Sister Chromatid Cohesion	6	16.2×	2e-04
RHO GTPases Activate Formins	6	14.6×	3e-04
EML4 and NUDC in mitotic spindle formation	5	14.5×	7e-04
Mitotic Prometaphase	6	13.0×	4e-04
Separation of Sister Chromatids	5	9.5×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
microtubule-based movement	6	41.2×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	1
Uncertain significance	40
Likely benign	26
Benign	9

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
2192828	NM_152773.5(DYNLT2B):c.104dup (p.Gln36fs)	Pathogenic
266107	NM_152773.5(DYNLT2B):c.317+4A>T	Pathogenic
3649518	NM_152773.5(DYNLT2B):c.221C>G (p.Ser74Ter)	Pathogenic
3660585	NM_152773.5(DYNLT2B):c.193G>T (p.Glu65Ter)	Pathogenic
394282	GRCh37/hg19 3q29(chr3:195780280-196264407)x3	Pathogenic
417792	NM_152773.5(DYNLT2B):c.262C>T (p.Arg88Ter)	Pathogenic
417793	NM_152773.5(DYNLT2B):c.100delinsCT (p.Val34fs)	Pathogenic
4729518	NM_152773.5(DYNLT2B):c.263del (p.Arg88fs)	Pathogenic
686054	GRCh37/hg19 3q29(chr3:195701149-197348561)x3	Pathogenic
813328	GRCh37/hg19 3q29(chr3:196033814-196033883)	Likely pathogenic

SpliceAI

1448 predictions. Top by Δscore:

Variant	Effect	Δscore
3:196306941:A:AC	donor_gain	1.0000
3:196306942:C:CC	donor_gain	1.0000
3:196306942:CAATA:C	donor_gain	1.0000
3:196307008:CATTT:C	acceptor_gain	1.0000
3:196307010:TTT:T	acceptor_gain	1.0000
3:196307013:C:CC	acceptor_gain	1.0000
3:196318028:T:TA	donor_gain	1.0000
3:196318083:C:CA	donor_gain	1.0000
3:196318084:C:A	donor_gain	1.0000
3:196318099:AG:A	donor_gain	1.0000
3:196296004:A:AC	donor_gain	0.9900
3:196296005:C:CC	donor_gain	0.9900
3:196296005:CATT:C	donor_gain	0.9900
3:196296068:TG:T	acceptor_gain	0.9900
3:196296070:C:CC	acceptor_gain	0.9900
3:196307009:ATTT:A	acceptor_gain	0.9900
3:196307011:TT:T	acceptor_gain	0.9900
3:196307011:TTCT:T	acceptor_loss	0.9900
3:196307012:TC:T	acceptor_loss	0.9900
3:196307012:TCTA:T	acceptor_loss	0.9900
3:196307013:C:CA	acceptor_loss	0.9900
3:196307014:T:A	acceptor_loss	0.9900
3:196316084:A:AC	donor_gain	0.9900
3:196317957:T:TA	donor_gain	0.9900
3:196317987:C:A	donor_gain	0.9900
3:196318095:T:TA	donor_gain	0.9900
3:196318136:C:CA	donor_gain	0.9900
3:196292488:T:C	acceptor_gain	0.9800
3:196296065:CCATG:C	acceptor_gain	0.9800
3:196296066:CATG:C	acceptor_gain	0.9800

AlphaMissense

942 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:196291360:G:C	C132W	0.999
3:196291343:C:T	G138D	0.998
3:196291363:G:C	F131L	0.998
3:196291363:G:T	F131L	0.998
3:196291365:A:G	F131L	0.998
3:196296035:C:G	D118H	0.998
3:196296050:A:G	W113R	0.998
3:196296050:A:T	W113R	0.998
3:196291361:C:T	C132Y	0.997
3:196291362:A:G	C132R	0.997
3:196296034:T:A	D118V	0.997
3:196306967:C:T	G98E	0.997
3:196306990:T:A	K90N	0.997
3:196306990:T:G	K90N	0.997
3:196316190:A:G	L52P	0.996
3:196316214:A:T	V44D	0.996
3:196316229:A:G	F39S	0.996
3:196291345:A:C	F137L	0.995
3:196291345:A:T	F137L	0.995
3:196291347:A:G	F137L	0.995
3:196296033:G:C	D118E	0.995
3:196296033:G:T	D118E	0.995
3:196296034:T:G	D118A	0.995
3:196296035:C:A	D118Y	0.995
3:196296058:C:G	R110P	0.995
3:196306982:A:T	V93E	0.995
3:196291336:G:C	F140L	0.993
3:196291336:G:T	F140L	0.993
3:196291338:A:G	F140L	0.993
3:196291344:C:G	G138R	0.993

dbSNP variants (sampled 300 via entrez): RS1000234732 (3:196319988 T>A,C,G), RS1000287728 (3:196307555 G>A), RS1000357265 (3:196318351 CG>C), RS1000565021 (3:196315647 T>G), RS1000616376 (3:196311337 G>A), RS1000625414 (3:196319015 G>A,T), RS1000690092 (3:196320227 C>T), RS1001045147 (3:196301319 T>G), RS1001098664 (3:196294464 G>A), RS1001286698 (3:196301289 T>A), RS1001334379 (3:196307599 G>A), RS1001443065 (3:196301479 G>A), RS1001493510 (3:196307585 G>C), RS1001559931 (3:196313589 T>A,C), RS1001610840 (3:196313915 T>C)

Disease associations

OMIM: gene MIM:617353 | disease phenotypes: MIM:617405, MIM:613091

GenCC curated gene-disease

Disease	Classification	Inheritance
short-rib thoracic dysplasia 17 with or without polydactyly	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
short-rib thoracic dysplasia 17 with or without polydactyly	Limited	AR

Mondo (2): short-rib thoracic dysplasia 17 with or without polydactyly (MONDO:0054565), asphyxiating thoracic dystrophy 3 (MONDO:0013127)

Orphanet (4): Jeune syndrome (Orphanet:474), Short rib-polydactyly syndrome, Majewski type (Orphanet:93269), Short rib-polydactyly syndrome, Saldino-Noonan type (Orphanet:93270), Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)

HPO phenotypes

13 total (13 of 13 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000773	Short ribs
HP:0000774	Narrow chest
HP:0000888	Horizontal ribs
HP:0000895	Lateral clavicle hook
HP:0001156	Brachydactyly
HP:0001162	Postaxial hand polydactyly
HP:0001522	Death in infancy
HP:0001830	Postaxial foot polydactyly
HP:0003577	Congenital onset
HP:0004322	Short stature
HP:0010454	Acetabular spurs
HP:0034374	Trident acetabulum

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537602	Short rib-polydactyly syndrome, Verma-Naumoff type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	4
Air Pollutants	decreases expression, increases abundance, increases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	increases expression	1
Esketamine	decreases expression	1
decabromobiphenyl ether	affects expression	1
dimethylselenide	decreases expression, increases expression, increases oxidation	1
sodium arsenite	decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
monomethylarsonous acid	decreases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Arsenic	decreases expression, increases abundance	1
Estradiol	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	increases expression	1
Silicon Dioxide	decreases expression	1
Thimerosal	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	increases methylation	1
Hydroxyl Radical	decreases expression, increases expression, increases oxidation	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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