Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4222
Gene name Gene Name - the full gene name approved by the HGNC.	Mesenchyme homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MEOX1
Synonyms (NCBI Gene) Gene synonyms aliases	KFS2, MOX1
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(4)

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

Show/Hide all(27)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(32)

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

MIM	HGNC	e!Ensembl
600147	7013	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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Klippel Feil syndrome	Klippel-Feil syndrome 2, autosomal recessive	rs1567750527, rs772798486, rs713993044	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Isolated Klippel-Feil Syndrome	isolated Klippel-Feil syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Asthma	Associate	34552174
Atlanto Axial Fusion	Associate	40225938
Autism Spectrum Disorder	Associate	33562221
Breast Neoplasms	Associate	27285982, 28761973, 30662330, 37178414
Carcinoma Hepatocellular	Associate	38348965
Carcinoma Non Small Cell Lung	Associate	30662330
Carcinoma Squamous Cell	Associate	30662330
Dermatofibrosarcoma	Associate	14633610
Fibrosis	Stimulate	38348965
Fused Kidney	Associate	40225938
Klippel Feil Syndrome	Associate	23290072, 26238661, 32278351
Lung Neoplasms	Associate	30662330
Lymphatic Metastasis	Associate	27285982
Lymphatic Metastasis	Stimulate	30662330, 38348965
Neoplasm Metastasis	Associate	38348965
Neoplasms	Associate	27285982, 30662330, 38348965
Ovarian Neoplasms	Associate	22567123
Syndrome	Associate	33562221
Uterine Cervicitis	Associate	23290072
Wilms Tumor	Associate	12057921

MEOX1 (mesenchyme homeobox 1)