MEOX1 (mesenchyme homeobox 1)

Gene

• Entrez ID: 4222
• Gene name: Mesenchyme homeobox 1
• Gene symbol: MEOX1
• Synonyms (NCBI Gene): KFS2, MOX1
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: 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 varia

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141693578	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs713993044	G>A,T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs772798486	G>A,T	Pathogenic	Stop gained, missense variant, synonymous variant, coding sequence variant
rs1567750527	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1142984	hsa-miR-1290	CLIP-seq
MIRT1142985	hsa-miR-1305	CLIP-seq
MIRT1142986	hsa-miR-219-2-3p	CLIP-seq
MIRT1142987	hsa-miR-2964a-3p	CLIP-seq
MIRT1142988	hsa-miR-3167	CLIP-seq
MIRT1142989	hsa-miR-3609	CLIP-seq
MIRT1142990	hsa-miR-520d-5p	CLIP-seq
MIRT1142991	hsa-miR-520g	CLIP-seq
MIRT1142992	hsa-miR-520h	CLIP-seq
MIRT1142993	hsa-miR-524-5p	CLIP-seq
MIRT1142994	hsa-miR-548ah	CLIP-seq
MIRT1142995	hsa-miR-600	CLIP-seq
MIRT1142996	hsa-miR-876-5p	CLIP-seq
MIRT2040677	hsa-miR-105	CLIP-seq
MIRT2040678	hsa-miR-3064-5p	CLIP-seq
MIRT2040679	hsa-miR-326	CLIP-seq
MIRT2040680	hsa-miR-330-5p	CLIP-seq
MIRT2040681	hsa-miR-3661	CLIP-seq
MIRT2040682	hsa-miR-3925-3p	CLIP-seq
MIRT2040683	hsa-miR-4690-3p	CLIP-seq
MIRT2040684	hsa-miR-4768-5p	CLIP-seq
MIRT2040685	hsa-miR-516b	CLIP-seq
MIRT2040686	hsa-miR-631	CLIP-seq
MIRT2040687	hsa-miR-766	CLIP-seq
MIRT2040677	hsa-miR-105	CLIP-seq
MIRT2270417	hsa-miR-1197	CLIP-seq
MIRT2270418	hsa-miR-4520a-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001757	Process	Somite specification	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	23275563, 25416956, 25910212, 26871637, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0060218	Process	Hematopoietic stem cell differentiation	ISS
GO:0061053	Process	Somite development	IBA
GO:0061053	Process	Somite development	IEA
GO:0061053	Process	Somite development	ISS
GO:0061056	Process	Sclerotome development	IEA
GO:0061056	Process	Sclerotome development	ISS
GO:0071837	Function	HMG box domain binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600147
• HGNC: 7013
• e!Ensembl: ENSG00000005102

Protein

• UniProt ID: P50221
• Protein name: Homeobox protein MOX-1 (Mesenchyme homeobox 1)
• Protein 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 (PubMed:23290072, Pub
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	172 → 228	Homeodomain	Domain

• Sequence:

  MDPAASSCMRSLQPPAPVWGCLRNPHSEGNGASGLPHYPPTPFSFHQKPDFLATATAAYP
  DFSASCLAATPHSLPQEEHIFTEQHPAFPQSPNWHFPVSDARRRPNSGPAGGSKEMGTSS
  LGLVDTTGGPGDDYGVLGSTANETEKKSSRRRKESSDNQENRGKPEGSSKARKERTAFTK
  EQLRELEAEFAHHNYLTRLRRYEIAVNLDLSERQVKVWFQNRRMKWKRVKGGQPISPNGQ
  DPEDGDSTASPSSE

• Sequence length: 254

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Klippel-Feil syndrome 2, autosomal recessive	Pathogenic; Likely pathogenic	rs713993044, rs1567750527, rs772798486	RCV000149546 RCV000032703 RCV000032704	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL FEIL SYNDROME RECESSIVE TYPE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL-FEIL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEOX1-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34552174	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	33562221	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27285982, 28761973, 30662330		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27285982, 28761973, 30662330, 37178414	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38348965	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30662330		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30662330	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	29155983		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital torticollis	Congenital Torticollis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29155983		★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	CTD_human_DG	16033404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopic anus	Ectopic anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	29155983		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29155983		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29155983		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated Klippel-Feil syndrome	Isolated Klippel-Feil Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Klippel Feil syndrome recessive type	Klippel Feil syndrome	GENOMICS_ENGLAND_DG	24073994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klippel Feil syndrome recessive type	Klippel Feil syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klippel Feil syndrome recessive type	Klippel Feil syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klippel-Feil Syndrome	Klippel Feil syndrome	ORPHANET_DG	23290072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klippel-Feil Syndrome	Klippel Feil syndrome	BEFREE	24073994, 26238661, 30277257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klippel-Feil Syndrome	Klippel Feil syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klippel-Feil Syndrome	Klippel Feil syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	Klippel Feil syndrome	BEFREE	23290072, 24073994		★☆☆☆☆ Found in Text Mining only
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	Klippel Feil syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30662330	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27285982	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30662330, 38348965	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27285982, 28761973, 30662330		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30662330		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22567123		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30543460		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30662330		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22567123	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30543460		★☆☆☆☆ Found in Text Mining only
Sclerosteosis	Sclerosteosis	BEFREE	12116252		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	17764081		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	29113690		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30662330		★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	BEFREE	12116252		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	12057921	Associate	★☆☆☆☆ Found in Text Mining only