MESP2

Summary

MESP2 (mesoderm posterior bHLH transcription factor 2, HGNC:29659) is a protein-coding gene on chromosome 15q26.1, encoding Mesoderm posterior protein 2 (Q0VG99). Transcription factor with important role in somitogenesis.

This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02).

Source: NCBI Gene 145873 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spondylocostal dysostosis 2, autosomal recessive (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 485 total — 23 pathogenic, 32 likely-pathogenic
• Phenotypes (HPO): 56
• MANE Select transcript: NM_001039958

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29659
Approved symbol	MESP2
Name	mesoderm posterior bHLH transcription factor 2
Location	15q26.1
Locus type	gene with protein product
Status	Approved
Aliases	SCDO2, bHLHc6
Ensembl gene	ENSG00000188095
Ensembl biotype	protein_coding
OMIM	605195
Entrez	145873

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000341735, ENST00000558723, ENST00000560219

RefSeq mRNA: 1 — MANE Select: NM_001039958 NM_001039958

CCDS: CCDS42078

Canonical transcript exons

ENST00000341735 — 2 exons

Exon	Start	End
ENSE00001375490	89776332	89777281
ENSE00001532780	89778065	89778754

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 86.98.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0533 / max 8.6941, expressed in 22 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148370	0.0533	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.37	silver quality
buccal mucosa cell	CL:0002336	80.41	silver quality
oocyte	CL:0000023	75.17	gold quality
tendon of biceps brachii	UBERON:0008188	74.12	gold quality
parotid gland	UBERON:0001831	70.53	gold quality
lower lobe of lung	UBERON:0008949	69.39	gold quality
mucosa of transverse colon	UBERON:0004991	68.39	gold quality
secondary oocyte	CL:0000655	66.57	gold quality
cartilage tissue	UBERON:0002418	66.43	gold quality
upper leg skin	UBERON:0004262	65.18	gold quality
sperm	CL:0000019	63.24	gold quality
prefrontal cortex	UBERON:0000451	62.35	gold quality
myocardium	UBERON:0002349	62.20	gold quality
palpebral conjunctiva	UBERON:0001812	62.09	gold quality
trabecular bone tissue	UBERON:0002483	61.42	gold quality
decidua	UBERON:0002450	61.21	gold quality
nasal cavity epithelium	UBERON:0005384	60.79	gold quality
jejunal mucosa	UBERON:0000399	59.92	gold quality
frontal cortex	UBERON:0001870	59.54	gold quality
biceps brachii	UBERON:0001507	59.52	gold quality
colonic mucosa	UBERON:0000317	59.29	gold quality
mammalian vulva	UBERON:0000997	59.28	gold quality
quadriceps femoris	UBERON:0001377	59.10	gold quality
Brodmann (1909) area 9	UBERON:0013540	59.03	gold quality
gingiva	UBERON:0001828	58.99	gold quality
nucleus accumbens	UBERON:0001882	58.96	gold quality
mucosa of sigmoid colon	UBERON:0004993	58.82	silver quality
dorsolateral prefrontal cortex	UBERON:0009834	58.79	gold quality
vastus lateralis	UBERON:0001379	58.60	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.29

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

8 targets.

Target	Regulation
DLL1	Repression
EPHA4	Unknown
LFNG
NOTCH1	Repression
PAX3	Unknown
PCDH8	Unknown
RIPPLY2
UNCX	Repression

Upstream regulators (CollecTRI, top): LEF1, TBX6

miRNA regulators (miRDB)

16 targeting MESP2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-3614-5P	99.30	65.25	837
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-138-2-3P	98.91	68.33	1643
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-3194-3P	98.83	66.22	1167
HSA-MIR-6882-3P	98.23	67.01	1119
HSA-MIR-7113-5P	97.88	67.33	1735

Literature-anchored findings (GeneRIF, showing 5)

• Mutated MESP2 causes spondylocostal dysostosis (PMID:15122512)
• Mesp1 is down-regulated in the later stages of development by increasing levels of Mesp2 in the wild-type embryo. (PMID:16996494)
• findings suggest a founder-effect mutation in the MESP2 gene as a major cause of the classical Puerto Rican form of spondylothoracic dysostosis/Jarcho-Levin syndrome (PMID:18485326)
• MESP2, HES7 and DUSP6 genes may not be involved in the etiopathogenesis of sporadic and non-syndromic CS in Chinese Han population. (PMID:22744456)
• MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation. (PMID:32572506)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	mespaa	ENSDARG00000017078
danio_rerio	mespba	ENSDARG00000030347
danio_rerio	mespab	ENSDARG00000068761
danio_rerio	mespbb	ENSDARG00000097947
mus_musculus	Mesp2	ENSMUSG00000030543
rattus_norvegicus	Mesp2	ENSRNOG00000014925
drosophila_melanogaster	sage	FBGN0037672

Paralogs (2): MSGN1 (ENSG00000151379), MESP1 (ENSG00000166823)

Protein

Protein identifiers

Mesoderm posterior protein 2 — Q0VG99 (reviewed: Q0VG99)

Alternative names: Class C basic helix-loop-helix protein 6

All UniProt accessions (2): Q0VG99, H0YKZ5

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Also regulates the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm.

Subcellular location. Nucleus.

Post-translational modifications. Degraded by the proteasome.

Disease relevance. Spondylocostal dysostosis 2, autosomal recessive (SCDO2) [MIM:608681] A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. The number of GQ repeats at position 179 is polymorphic.

RefSeq proteins (1): NP_001035047* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011598	bHLH_dom	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR040259	Mesogenin/MesP	Family

Pfam: PF00010

UniProt features (31 total): repeat 13, compositionally biased region 6, region of interest 5, sequence variant 4, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0VG99-F1	54.92	0.13

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9824272	Somitogenesis
R-HSA-1266738	Developmental Biology
R-HSA-9758941	Gastrulation
R-HSA-9793380	Formation of paraxial mesoderm

MSigDB gene sets: 196 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_AXIS_SPECIFICATION, GOBP_EMBRYONIC_AXIS_SPECIFICATION, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_HEART_MORPHOGENESIS, GOBP_EMBRYONIC_PATTERN_SPECIFICATION, GOBP_SOMITOGENESIS, GOBP_SEGMENTATION, GOBP_GASTRULATION, GOBP_MESODERM_MORPHOGENESIS, GOBP_ANTERIOR_POSTERIOR_AXIS_SPECIFICATION

GO Biological Process (5): mesoderm formation (GO:0001707), heart morphogenesis (GO:0003007), regulation of transcription by RNA polymerase II (GO:0006357), Notch signaling pathway (GO:0007219), somite rostral/caudal axis specification (GO:0032525)

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), protein dimerization activity (GO:0046983), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Formation of paraxial mesoderm	1
Developmental Biology	1
Gastrulation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
formation of primary germ layer	1
mesoderm morphogenesis	1
heart development	1
animal organ morphogenesis	1
transcription by RNA polymerase II	1
cell surface receptor signaling pathway	1
embryonic axis specification	1
somitogenesis	1
anterior/posterior axis specification	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
protein binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

652 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MESP2	LFNG	Q8NES3	926
MESP2	TBX6	O95947	917
MESP2	DLL3	Q9NYJ7	857
MESP2	RIPPLY2	Q5TAB7	807
MESP2	DLL1	O00548	777
MESP2	RIPPLY1	Q0D2K3	695
MESP2	TBX18	O95935	695
MESP2	UNCX	A6NJT0	678
MESP2	SOX17	Q9H6I2	674
MESP2	PAX1	P15863	656
MESP2	FOXC2	Q99958	608
MESP2	HES5	Q5TA89	605
MESP2	NOTCH1	P46531	568
MESP2	FOXC1	Q12948	567
MESP2	HES7	Q9BYE0	564

IntAct

4 interactions, top by confidence:

A	B	Type	Score
MESP2	TCF4	psi-mi:“MI:0914”(association)	0.530
MESP2	TUSC2	psi-mi:“MI:0914”(association)	0.350

BioGRID (17): TCF4 (Affinity Capture-MS), TCF3 (Affinity Capture-MS), TCF12 (Affinity Capture-MS), TCF12 (Affinity Capture-MS), TCF4 (Affinity Capture-MS), TCF3 (Affinity Capture-MS), TCF12 (Affinity Capture-MS), TCF3 (Affinity Capture-MS), TCF4 (Affinity Capture-MS), SLC25A15 (Affinity Capture-MS), ACSL1 (Affinity Capture-MS), USP34 (Affinity Capture-MS), TUSC2 (Affinity Capture-MS), MESP2 (PCA), MESP2 (PCA)

ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2

Diamond homologs: A6NI15, O08574, O09105, O42202, P41894, P46581, P48986, P79765, P79766, P79920, P97309, Q08DI0, Q0VG99, Q13562, Q28C89, Q4R5G6, Q60430, Q60867, Q64289, Q90ZL1, Q91616, Q96NK8, Q9BRJ9, Q9DEQ9, Q9HD90, Q9JK54, Q9W690, Q9W6C7, Q9Y4Z2, A8E5T6, O35437, O43680, O60682, O88940, P79782, Q10574, Q20561, Q32PV5, Q5E9S3, Q6GNB7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	23
Likely pathogenic	32
Uncertain significance	160
Likely benign	231
Benign	17

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069665	NM_001039958.2(MESP2):c.84G>A (p.Trp28Ter)	Pathogenic
1070004	NM_001039958.2(MESP2):c.180_193dup (p.Glu65fs)	Pathogenic
1070702	NM_001039958.2(MESP2):c.486C>A (p.Cys162Ter)	Pathogenic
1073707	NM_001039958.2(MESP2):c.72G>A (p.Trp24Ter)	Pathogenic
1354759	NM_001039958.2(MESP2):c.162_175dup (p.Cys59fs)	Pathogenic
1441772	NM_001039958.2(MESP2):c.47G>A (p.Trp16Ter)	Pathogenic
1452062	NM_001039958.2(MESP2):c.20_33del (p.Pro7fs)	Pathogenic
1453610	NM_001039958.2(MESP2):c.20_33dup (p.Gly12fs)	Pathogenic
1455327	NM_001039958.2(MESP2):c.58C>T (p.Gln20Ter)	Pathogenic
2106318	NM_001039958.2(MESP2):c.7del (p.Gln3fs)	Pathogenic
2416025	NM_001039958.2(MESP2):c.135C>A (p.Cys45Ter)	Pathogenic
2627573	NM_001039958.2(MESP2):c.49del (p.Ile17fs)	Pathogenic
2704655	NM_001039958.2(MESP2):c.480G>A (p.Trp160Ter)	Pathogenic
2710072	NM_001039958.2(MESP2):c.840G>A (p.Trp280Ter)	Pathogenic
2808490	NM_001039958.2(MESP2):c.193G>T (p.Glu65Ter)	Pathogenic
2837592	NM_001039958.2(MESP2):c.146_161dup (p.Gln55fs)	Pathogenic
2848541	NM_001039958.2(MESP2):c.86dup (p.Asp29fs)	Pathogenic
2851670	NM_001039958.2(MESP2):c.427G>T (p.Glu143Ter)	Pathogenic
3243865	NC_000015.9:g.(?90319589)(90321565_?)del	Pathogenic
4081733	NM_001039958.2(MESP2):c.413del (p.Val138fs)	Pathogenic
5183	NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs)	Pathogenic
5186	NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)	Pathogenic
642227	NM_001039958.2(MESP2):c.471dup (p.Ser158fs)	Pathogenic
3578145	NM_001039958.2(MESP2):c.-4_7del (p.Met1fs)	Likely pathogenic
3578146	NM_001039958.2(MESP2):c.178_188delinsGGCTCGG (p.Ser60fs)	Likely pathogenic
3578147	NM_001039958.2(MESP2):c.611del (p.Gln204fs)	Likely pathogenic
3578148	NM_001039958.2(MESP2):c.776del (p.Pro259fs)	Likely pathogenic
3578150	NM_001039958.2(MESP2):c.994del (p.Gln332fs)	Likely pathogenic
3779845	NM_001039958.2(MESP2):c.567_585del (p.Gln190fs)	Likely pathogenic
4057645	NM_001039958.2(MESP2):c.479G>A (p.Trp160Ter)	Likely pathogenic

SpliceAI

371 predictions. Top by Δscore:

Variant	Effect	Δscore
15:89776788:A:T	donor_gain	1.0000
15:89776810:G:GT	donor_gain	1.0000
15:89777279:CAGGT:C	donor_loss	0.9900
15:89777281:GGTA:G	donor_loss	0.9900
15:89777282:G:GA	donor_loss	0.9900
15:89777283:T:A	donor_loss	0.9900
15:89777434:G:T	donor_gain	0.9900
15:89777485:A:T	donor_gain	0.9900
15:89777518:TGGA:T	donor_gain	0.9900
15:89777519:GGAA:G	donor_gain	0.9900
15:89777521:A:T	donor_gain	0.9900
15:89778061:GCAG:G	acceptor_loss	0.9900
15:89778062:CAGG:C	acceptor_loss	0.9900
15:89778063:AG:A	acceptor_gain	0.9900
15:89778064:G:GT	acceptor_loss	0.9900
15:89778064:GG:G	acceptor_gain	0.9900
15:89776811:C:T	donor_gain	0.9800
15:89777434:G:GT	donor_gain	0.9800
15:89777438:T:G	donor_gain	0.9800
15:89777484:G:T	donor_gain	0.9800
15:89778063:A:AG	acceptor_gain	0.9800
15:89778064:G:GG	acceptor_gain	0.9800
15:89778064:GGGT:G	acceptor_gain	0.9800
15:89777282:G:GG	donor_gain	0.9700
15:89777491:G:GT	donor_gain	0.9700
15:89777493:G:GT	donor_gain	0.9700
15:89777493:G:T	donor_gain	0.9700
15:89778064:GGGTC:G	acceptor_gain	0.9700
15:89776820:G:T	donor_gain	0.9600
15:89778063:AGG:A	acceptor_gain	0.9600

AlphaMissense

2501 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:89776626:A:T	E90V	0.998
15:89776720:G:C	K121N	0.998
15:89776720:G:T	K121N	0.998
15:89776627:G:C	E90D	0.997
15:89776627:G:T	E90D	0.997
15:89776639:G:A	M94I	0.997
15:89776639:G:C	M94I	0.997
15:89776639:G:T	M94I	0.997
15:89776638:T:C	M94T	0.996
15:89776731:T:C	L125P	0.996
15:89776634:C:A	R93S	0.995
15:89776716:C:T	T120I	0.995
15:89776629:A:T	K91I	0.994
15:89776668:T:C	L104S	0.994
15:89776719:A:T	K121M	0.994
15:89776625:G:A	E90K	0.993
15:89776630:A:C	K91N	0.993
15:89776630:A:T	K91N	0.993
15:89776676:T:C	F107L	0.993
15:89776678:T:A	F107L	0.993
15:89776678:T:G	F107L	0.993
15:89776752:T:A	I132N	0.993
15:89776761:T:C	L135P	0.993
15:89776718:A:G	K121E	0.992
15:89776737:T:C	L127P	0.992
15:89776628:A:G	K91E	0.991
15:89776725:A:T	E123V	0.991
15:89776739:G:C	A128P	0.991
15:89776740:C:A	A128D	0.991
15:89776616:A:C	S87R	0.990

dbSNP variants (sampled 300 via entrez): RS1000177007 (15:89775981 G>A), RS1000250413 (15:89776162 C>G,T), RS1002474674 (15:89779124 C>T), RS1002512690 (15:89775004 T>C), RS1003043215 (15:89777824 T>G), RS1004174229 (15:89776760 C>G), RS1004457040 (15:89775438 G>A), RS1004507292 (15:89775669 T>C), RS1006179517 (15:89774338 T>C), RS1006477630 (15:89776868 G>A,T), RS1007092330 (15:89777125 G>A,C), RS1007099139 (15:89778514 G>A,T), RS1009371417 (15:89775748 A>G), RS1009406463 (15:89774800 C>T), RS1009861041 (15:89774582 A>T)

Disease associations

OMIM: gene MIM:605195 | disease phenotypes: MIM:608681, MIM:277300

GenCC curated gene-disease

Disease	Classification	Inheritance
spondylocostal dysostosis 2, autosomal recessive	Definitive	Autosomal recessive
autosomal recessive spondylocostal dysostosis	Supportive	Autosomal recessive

Mondo (3): spondylocostal dysostosis 2, autosomal recessive (MONDO:0012097), spondylocostal dysostosis 1, autosomal recessive (MONDO:0020692), autosomal recessive spondylocostal dysostosis (MONDO:0010180)

Orphanet (1): Autosomal recessive spondylocostal dysostosis (Orphanet:2311)

HPO phenotypes

56 total (30 of 56 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000008	Abnormal morphology of female internal genitalia
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000069	Abnormality of the ureter
HP:0000175	Cleft palate
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000269	Prominent occiput
HP:0000337	Broad forehead
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000476	Cystic hygroma
HP:0000772	Abnormal rib morphology
HP:0000776	Congenital diaphragmatic hernia
HP:0000902	Rib fusion
HP:0001249	Intellectual disability
HP:0001511	Intrauterine growth retardation
HP:0001522	Death in infancy
HP:0001537	Umbilical hernia
HP:0001538	Protuberant abdomen
HP:0002091	Restrictive ventilatory defect
HP:0002093	Respiratory insufficiency
HP:0002205	Recurrent respiratory infections
HP:0002435	Meningocele
HP:0002650	Scoliosis
HP:0002751	Kyphoscoliosis

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003560_6	Coronary artery aneurysm in Kawasaki disease	7.000000e-07
GCST010796_4586	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004327	electrocardiography

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535781	Spondylocostal dysostosis, autosomal recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	increases expression	1
doxylamine succinate	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases reaction, affects cotreatment, increases expression	1
Chir 99021	increases expression, decreases reaction, affects cotreatment	1
ramelteon	increases expression	1
abrine	decreases expression	1
nilotinib	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
bisphenol S	increases expression	1
Abacavir	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Catechin	affects cotreatment, increases expression	1
Fluorouracil	increases expression	1
Thalidomide	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Tretinoin	affects cotreatment, decreases reaction, increases expression, decreases expression	1
Valproic Acid	decreases expression	1
Isotretinoin	decreases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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