MEOX1

Summary

MEOX1 (mesenchyme homeobox 1, HGNC:7013) is a protein-coding gene on chromosome 17q21.31, encoding Homeobox protein MOX-1 (P50221). Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development.

This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described.

Source: NCBI Gene 4222 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Klippel-Feil syndrome 2, autosomal recessive (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 133 total — 4 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 39
• MANE Select transcript: NM_004527

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7013
Approved symbol	MEOX1
Name	mesenchyme homeobox 1
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	MOX1
Ensembl gene	ENSG00000005102
Ensembl biotype	protein_coding
OMIM	600147
Entrez	4222

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000318579, ENST00000393661, ENST00000549132, ENST00000909611

RefSeq mRNA: 3 — MANE Select: NM_004527 NM_001040002, NM_004527, NM_013999

CCDS: CCDS11466, CCDS11467, CCDS42343

Canonical transcript exons

ENST00000318579 — 3 exons

Exon	Start	End
ENSE00000731410	43643488	43643660
ENSE00002330164	43640389	43642032
ENSE00002370542	43661066	43661922

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 96.63.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0847 / max 120.5655, expressed in 305 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166260	0.6994	235
166256	0.1295	79
166257	0.1286	65
166258	0.0800	50
166259	0.0471	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	96.63	gold quality
tendon	UBERON:0000043	88.98	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.55	gold quality
apex of heart	UBERON:0002098	87.90	gold quality
adipose tissue	UBERON:0001013	87.64	gold quality
connective tissue	UBERON:0002384	87.06	gold quality
calcaneal tendon	UBERON:0003701	86.51	gold quality
parietal pleura	UBERON:0002400	84.73	gold quality
mammary duct	UBERON:0001765	84.65	gold quality
adipose tissue of abdominal region	UBERON:0007808	84.50	gold quality
omental fat pad	UBERON:0010414	84.09	gold quality
peritoneum	UBERON:0002358	84.04	gold quality
mammary gland	UBERON:0001911	83.53	gold quality
thoracic mammary gland	UBERON:0005200	83.52	gold quality
synovial joint	UBERON:0002217	83.33	gold quality
layer of synovial tissue	UBERON:0007616	83.12	gold quality
saphenous vein	UBERON:0007318	82.95	gold quality
heart left ventricle	UBERON:0002084	82.76	gold quality
epithelium of mammary gland	UBERON:0003244	82.54	gold quality
cardiac ventricle	UBERON:0002082	82.51	gold quality
myocardium	UBERON:0002349	81.88	silver quality
left ventricle myocardium	UBERON:0006566	81.59	silver quality
left uterine tube	UBERON:0001303	81.26	gold quality
heart	UBERON:0000948	80.59	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	79.75	silver quality
pleura	UBERON:0000977	79.43	gold quality
cardiac atrium	UBERON:0002081	79.35	gold quality
right atrium auricular region	UBERON:0006631	79.27	gold quality
superficial temporal artery	UBERON:0001614	79.24	silver quality
hindlimb stylopod muscle	UBERON:0004252	77.91	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	36.97
E-ANND-3	yes	7.35
E-MTAB-10137	no	7.80

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

8 targets.

Target	Regulation
CDKN1A	Unknown
CDKN2A
EYA2
FOXC1	Repression
FOXC2	Repression
GLI1	Activation
GLI2	Activation
NKX3-2	Activation

JASPAR motifs

Motif	Name	Family
MA0661.1	MEOX1	HOX
MA0661.2	MEOX1	HOX

JASPAR matrix evidence (PMIDs): PMID:18585359

Upstream regulators (CollecTRI, top): GLI2

miRNA regulators (miRDB)

75 targeting MEOX1, 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-5196-5P	100.00	67.98	2761
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-4441	99.49	66.56	3216

Literature-anchored findings (GeneRIF, showing 15)

• No mutations were identified in the PAX1 and MEOX1 exons or flanking intronic sequences, excluding them as likely causative genes for diaphanospondylodysostosis (PMID:17764081)
• The results demonstrate that MEOX1 is a critical target gene and cofactor of PBX1 in ovarian cancers. (PMID:22567123)
• We describe a multiplex consanguineous family in which isolated KFS maps to a single 17q21.31 locus that harbors a homozygous frameshift deletion in MEOX1; this deletion results in complete instability of the transcript (PMID:23290072)
• The G > A p.Q84X mutation in the MEOX1 is identified in Klippel-Feil syndrome. (PMID:24073994)
• MEOX1 is a clinically relevant novel target in BCSCs and mesenchymal-like cancer cells in PTEN-deficient trastuzumab resistant breast cancer and may serve as target for future drug development. (PMID:27285982)
• high levels of MEOX1 especially nuclear staining was an independent prognostic factor for non-small-cell lung cancer (PMID:30662330)
• The expression of Meox1 protein in the scar tissue was significantly higher than that in normal skin of patients with hypertrophic scars. (PMID:32241049)
• Combined p53- and PTEN-deficiency activates expression of mesenchyme homeobox 1 (MEOX1) required for growth of triple-negative breast cancer. (PMID:32467227)
• Mesenchyme homeobox 1 mediated-promotion of osteoblastic differentiation is negatively regulated by mir-3064-5p. (PMID:34130045)
• A transcriptional switch governs fibroblast activation in heart disease. (PMID:34163071)
• Characterization of the proteome and metabolome of human liver sinusoidal endothelial-like cells derived from induced pluripotent stem cells. (PMID:34229994)
• Expression quantitative trait loci for ETV4 and MEOX1 are associated with adult asthma in Japanese populations. (PMID:34552174)
• MEOX1 suppresses the progression of lung cancer cells by inhibiting the cell-cycle checkpoint gene CCNB1. (PMID:34837450)
• Identification of the novel FOXP3-dependent Treg cell transcription factor MEOX1 by high-dimensional analysis of human CD4[+] T cells. (PMID:37559728)
• Unraveling the molecular mechanisms of lymph node metastasis in ovarian cancer: focus on MEOX1. (PMID:38486335)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	meox1	ENSDARG00000007891
mus_musculus	Meox1	ENSMUSG00000001493
rattus_norvegicus	Meox1	ENSRNOG00000020803
drosophila_melanogaster	btn	FBGN0014949

Paralogs (1): MEOX2 (ENSG00000106511)

Protein

Protein identifiers

Homeobox protein MOX-1 — P50221 (reviewed: P50221)

Alternative names: Mesenchyme homeobox 1

All UniProt accessions (1): P50221

UniProt curated annotations — full annotation on UniProt →

Function. Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints. Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. Required for hematopoietic stem cell (HSCs) induction via its role in somitogenesis: specification of HSCs occurs via the deployment of a specific endothelial precursor population, which arises within a sub-compartment of the somite named endotome.

Subcellular location. Nucleus. Cytoplasm.

Disease relevance. Klippel-Feil syndrome 2, autosomal recessive (KFS2) [MIM:214300] A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
P50221-1	1	yes
P50221-2	2
P50221-3	3

RefSeq proteins (3): NP_001035091, NP_004518, NP_054705 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR020479	HD_metazoa	Domain
IPR042634	MOX-1/MOX-2	Family

Pfam: PF00046

UniProt features (9 total): region of interest 2, splice variant 2, chain 1, DNA-binding region 1, compositionally biased region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P50221-F1	64.33	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 230 (showing top): GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, LI_WILMS_TUMOR, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_HEMATOPOIETIC_STEM_CELL_DIFFERENTIATION, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_2_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_EMBRYONIC_PATTERN_SPECIFICATION, GOBP_SOMITOGENESIS, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, MODULE_99, GOBP_SEGMENTATION, MODULE_123

GO Biological Process (7): somite specification (GO:0001757), regulation of transcription by RNA polymerase II (GO:0006357), hematopoietic stem cell differentiation (GO:0060218), somite development (GO:0061053), sclerotome development (GO:0061056), regulation of DNA-templated transcription (GO:0006355), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (10): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565), HMG box domain binding (GO:0071837), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
binding	2
cellular anatomical structure	2
somitogenesis	1
segment specification	1
embryonic pattern specification	1
hematopoietic progenitor cell differentiation	1
stem cell differentiation	1
embryo development	1
epithelium development	1
mesenchyme development	1
somite development	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
DNA binding	1
protein domain specific binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

982 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MEOX1	KRT24	Q2M2I5	827
MEOX1	SOST	Q9BQB4	810
MEOX1	PAX1	P15863	799
MEOX1	TBX6	O95947	767
MEOX1	EYA2	O00167	740
MEOX1	SIX1	Q15475	707
MEOX1	MYOG	P15173	646
MEOX1	TCF15	Q12870	622
MEOX1	MYOD1	P15172	615
MEOX1	MSGN1	A6NI15	581
MEOX1	RIPPLY2	Q5TAB7	576
MEOX1	MESP2	Q0VG99	521
MEOX1	KRT14	P02533	508
MEOX1	SOX17	Q9H6I2	494
MEOX1	SIX2	Q9NPC8	493

IntAct

357 interactions, top by confidence:

A	B	Type	Score
MEOX1	MID1	psi-mi:“MI:0915”(physical association)	0.780
MEOX1	MAPK9	psi-mi:“MI:0915”(physical association)	0.780
MAPK9	MEOX1	psi-mi:“MI:0915”(physical association)	0.780
MID1	MEOX1	psi-mi:“MI:0915”(physical association)	0.780
MEOX1	CWF19L2	psi-mi:“MI:0915”(physical association)	0.720
CKS1B	MEOX1	psi-mi:“MI:0915”(physical association)	0.720
MEOX1	UBE2R2	psi-mi:“MI:0915”(physical association)	0.720
MEOX1	NEIL2	psi-mi:“MI:0915”(physical association)	0.720
CWF19L2	MEOX1	psi-mi:“MI:0915”(physical association)	0.720
UBE2R2	MEOX1	psi-mi:“MI:0915”(physical association)	0.720
NEIL2	MEOX1	psi-mi:“MI:0915”(physical association)	0.720
MEOX1	CKS1B	psi-mi:“MI:0915”(physical association)	0.720
RBM5	MEOX1	psi-mi:“MI:0915”(physical association)	0.600
MEOX1	DCX	psi-mi:“MI:0915”(physical association)	0.560
MEOX1	CIAO1	psi-mi:“MI:0915”(physical association)	0.560
ALOX5	MEOX1	psi-mi:“MI:0915”(physical association)	0.560
MEOX1	TXLNA	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (119): MEOX1 (Two-hybrid), MEOX1 (Two-hybrid), MEOX1 (Two-hybrid), MID1 (Two-hybrid), MAPK9 (Two-hybrid), RANBP3 (Two-hybrid), CIAO1 (Two-hybrid), MORF4L1 (Two-hybrid), APPL1 (Two-hybrid), SYT17 (Two-hybrid), QRICH1 (Two-hybrid), UBE2R2 (Two-hybrid), NAGK (Two-hybrid), CIB3 (Two-hybrid), UBXN2B (Two-hybrid)

ESM2 similar proteins: A1YGA4, A2D635, A2T6F8, A2T779, A2T7T2, A5YC49, A6NJ46, A9L937, B0VXK3, F1Q4R9, O35137, O42173, O42367, O43248, O43364, P09019, P09025, P09632, P09633, P17278, P17481, P17482, P20615, P24342, P31245, P31246, P31259, P31270, P31272, P31273, P31274, P31311, P32442, P50221, Q08727, Q0VCS4, Q1KKR7, Q1KKT2, Q1KKY2, Q1KKZ4

Diamond homologs: A1YER7, A1YF08, A1YFD8, A1YFY3, A1YG85, A1YGA4, A2D4P8, A2D5I1, A2D5K9, A2D5Y4, A2T6X6, A2T756, A2T779, A2T7T2, F1Q4R9, M0R6D8, O13074, O42230, O42365, O42367, O42506, O57374, P06798, P07548, P09016, P09017, P09019, P09020, P09021, P09067, P09070, P09074, P0C1T1, P10178, P10284, P10628, P14652, P14837, P14838, P14840

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
PAX1	“up-regulates activity”	MEOX1	binding
PAX3	“up-regulates activity”	MEOX1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	3
Uncertain significance	62
Likely benign	46
Benign	12

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
162132	NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter)	Pathogenic
2425148	NC_000017.10:g.(?41738414)(41738902_?)del	Pathogenic
2788245	NM_004527.4(MEOX1):c.44_50dup (p.Val18fs)	Pathogenic
39508	NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)	Pathogenic
3362420	NM_004527.4(MEOX1):c.514C>T (p.Arg172Cys)	Likely pathogenic
3779844	NM_004527.4(MEOX1):c.268C>T (p.Gln90Ter)	Likely pathogenic
39507	NM_004527.4(MEOX1):c.94del (p.Ala32fs)	Likely pathogenic

SpliceAI

979 predictions. Top by Δscore:

Variant	Effect	Δscore
17:43642034:T:A	acceptor_loss	1.0000
17:43643527:T:C	donor_gain	1.0000
17:43643661:C:CC	acceptor_gain	1.0000
17:43642033:C:CC	acceptor_gain	0.9900
17:43643482:GCGCA:G	donor_loss	0.9900
17:43643483:CGCA:C	donor_loss	0.9900
17:43643484:GCA:G	donor_loss	0.9900
17:43643486:A:AG	donor_loss	0.9900
17:43643487:CCT:C	donor_loss	0.9900
17:43643656:GTTGT:G	acceptor_gain	0.9900
17:43643657:TTGT:T	acceptor_gain	0.9900
17:43643658:TGT:T	acceptor_gain	0.9900
17:43643659:GT:G	acceptor_gain	0.9900
17:43643678:C:CT	acceptor_gain	0.9900
17:43643678:C:T	acceptor_gain	0.9900
17:43661061:CCTA:C	donor_loss	0.9900
17:43661062:CTAC:C	donor_loss	0.9900
17:43661063:TAC:T	donor_loss	0.9900
17:43661064:ACCT:A	donor_loss	0.9900
17:43661065:C:A	donor_loss	0.9900
17:43661074:T:A	donor_gain	0.9900
17:43642029:TGAC:T	acceptor_gain	0.9800
17:43642028:TTGAC:T	acceptor_gain	0.9700
17:43642030:GAC:G	acceptor_gain	0.9700
17:43642031:AC:A	acceptor_gain	0.9700
17:43642032:CC:C	acceptor_gain	0.9700
17:43643657:T:C	acceptor_gain	0.9600
17:43643657:TTGTC:T	acceptor_gain	0.9600
17:43643658:TGTC:T	acceptor_gain	0.9600
17:43643659:GTCT:G	acceptor_gain	0.9600

AlphaMissense

1655 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:43642006:C:A	R223S	1.000
17:43642006:C:G	R223S	1.000
17:43642007:C:A	R223M	1.000
17:43642007:C:G	R223T	1.000
17:43642012:G:C	N221K	1.000
17:43642012:G:T	N221K	1.000
17:43642013:T:A	N221I	1.000
17:43642013:T:C	N221S	1.000
17:43642013:T:G	N221T	1.000
17:43642014:T:C	N221D	1.000
17:43642015:C:A	Q220H	1.000
17:43642015:C:G	Q220H	1.000
17:43642018:G:C	F219L	1.000
17:43642018:G:T	F219L	1.000
17:43642019:A:C	F219C	1.000
17:43642019:A:G	F219S	1.000
17:43642020:A:C	F219V	1.000
17:43642020:A:G	F219L	1.000
17:43642020:A:T	F219I	1.000
17:43642021:C:A	W218C	1.000
17:43642021:C:G	W218C	1.000
17:43642023:A:G	W218R	1.000
17:43642023:A:T	W218R	1.000
17:43643501:A:G	L210P	1.000
17:43643560:A:C	F190L	1.000
17:43643560:A:T	F190L	1.000
17:43643561:A:C	F190C	1.000
17:43643561:A:G	F190S	1.000
17:43643562:A:G	F190L	1.000
17:43643573:A:G	L186P	1.000

dbSNP variants (sampled 300 via entrez): RS1000599253 (17:43652121 G>A,C), RS1000618085 (17:43663862 C>A,T), RS1000690847 (17:43657114 T>C), RS1000702205 (17:43657753 C>G,T), RS1000849274 (17:43658343 C>T), RS1000916149 (17:43645809 C>A,G,T), RS1000925223 (17:43640664 G>A), RS1001085380 (17:43646008 C>T), RS1001139225 (17:43654197 C>T), RS1001244259 (17:43654464 C>T), RS1001282450 (17:43655051 CAAAAAA>C), RS1001350229 (17:43640323 G>T), RS1001577423 (17:43643156 A>C), RS1001629254 (17:43643282 G>A,T), RS1001756812 (17:43648331 T>C)

Disease associations

OMIM: gene MIM:600147 | disease phenotypes: MIM:214300

GenCC curated gene-disease

Disease	Classification	Inheritance
Klippel-Feil syndrome 2, autosomal recessive	Strong	Autosomal recessive
isolated Klippel-Feil syndrome	Supportive	Autosomal dominant

Mondo (2): Klippel-Feil syndrome 2, autosomal recessive (MONDO:0008958), (MONDO:0016520)

Orphanet (1): Isolated Klippel-Feil syndrome (Orphanet:2345)

HPO phenotypes

39 total (30 of 39 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000086	Ectopic kidney
HP:0000119	Abnormality of the genitourinary system
HP:0000175	Cleft palate
HP:0000204	Cleft upper lip
HP:0000324	Facial asymmetry
HP:0000365	Hearing impairment
HP:0000377	Abnormal pinna morphology
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000465	Webbed neck
HP:0000466	Limited neck range of motion
HP:0000470	Short neck
HP:0000772	Abnormal rib morphology
HP:0000912	Sprengel anomaly
HP:0000925	Abnormality of the vertebral column
HP:0001291	Abnormal cranial nerve morphology
HP:0001629	Ventricular septal defect
HP:0002023	Anal atresia
HP:0002162	Low posterior hairline
HP:0002315	Headache
HP:0002414	Spina bifida
HP:0002650	Scoliosis
HP:0002949	Fused cervical vertebrae
HP:0003043	Abnormal shoulder morphology
HP:0003298	Spina bifida occulta
HP:0003416	Spinal canal stenosis
HP:0004374	Hemiplegia/hemiparesis
HP:0004397	Ectopic anus
HP:0004602	Cervical C2/C3 vertebral fusion

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006423_13	Fracture	3.000000e-25

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536888	Klippel Feil syndrome recessive type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression, increases methylation	9
bisphenol A	affects expression, decreases expression	3
trichostatin A	affects cotreatment, increases expression	3
Tretinoin	affects cotreatment, decreases reaction, increases expression, decreases expression	3
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases reaction	2
Chir 99021	increases expression, decreases reaction, affects cotreatment, decreases expression	2
belinostat	increases expression, affects cotreatment	2
Vorinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Genistein	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
bisphenol F	decreases expression	1
4-oxoretinoic acid	increases expression	1
methylmercuric chloride	increases expression	1
apocarotenal	increases expression	1
N(4)-hydroxycytidine	decreases expression	1
o,p’-DDT	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sulforaphane	decreases expression	1
benzo(e)pyrene	increases methylation	1
doxylamine succinate	decreases expression	1
4-oxoretinol	increases expression	1
2,4-di-tert-butylphenol	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
ramelteon	decreases expression	1
nilotinib	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1WY	Abcam HeLa MEOX1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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