MEOX1 (mesenchyme homeobox 1)

Gene

• Entrez ID: 4222
• Gene name: Mesenchyme homeobox 1
• Gene symbol: MEOX1
• Synonyms: 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	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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:0003682	Function	Chromatin binding	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	21873635
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007275	Process	Multicellular organism development	TAS	7987315
GO:0008150	Process	Biological_process	ND
GO:0043565	Function	Sequence-specific DNA binding	ISS
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	21873635
GO:0061053	Process	Somite development	ISS
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

Causal
Disease name	Disease term	dbSNP ID	References
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	16033404
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Klippel feil syndrome	Klippel Feil syndrome recessive type, Klippel-Feil Syndrome, KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	rs1567750527, rs772798486, rs713993044, rs864309489, rs1569172839	24073994, 23290072
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital torticollis	Congenital torticollis
Ectopic anus	Ectopic anus
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis
Impaired cognition	Impaired cognition
Imperforate anus	Anus, Imperforate
Isolated klippel-feil syndrome	Isolated Klippel-Feil syndrome
Neck webbing	Neck webbing
Spina bifida	Spina Bifida
Sprengel deformity	Sprengel deformity