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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4488
Gene name Gene Name - the full gene name approved by the HGNC.	Msh homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MSX2
Synonyms (NCBI Gene) Gene synonyms aliases	CRS2, FPP, HOX8, MSH, PFM, PFM1
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q35.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper cranio

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893895	C>A,T	Likely-pathogenic, pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs104893896	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs121912971	GC>TA	Pathogenic	Stop gained, coding sequence variant
rs121912972	G>-	Pathogenic	Stop gained, coding sequence variant
rs1561643029	->ATTG	Pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs1561643060	AGACCCAG>-	Pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant

Show/Hide all(254)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000728	hsa-miR-135b-5p	Review	19574400
MIRT724823	hsa-miR-4293	HITS-CLIP	19536157
MIRT724822	hsa-miR-148b-5p	HITS-CLIP	19536157
MIRT724821	hsa-miR-6874-3p	HITS-CLIP	19536157
MIRT724820	hsa-miR-4277	HITS-CLIP	19536157
MIRT724819	hsa-miR-181a-2-3p	HITS-CLIP	19536157
MIRT724818	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT724817	hsa-miR-3660	HITS-CLIP	19536157
MIRT724816	hsa-miR-4526	HITS-CLIP	19536157
MIRT724815	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT724814	hsa-miR-2277-3p	HITS-CLIP	19536157
MIRT724813	hsa-miR-6509-3p	HITS-CLIP	19536157
MIRT724812	hsa-miR-4436b-5p	HITS-CLIP	19536157
MIRT724811	hsa-miR-3686	HITS-CLIP	19536157
MIRT724810	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT724809	hsa-miR-503-3p	HITS-CLIP	19536157
MIRT650547	hsa-miR-587	HITS-CLIP	23824327
MIRT641655	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT641654	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT641653	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT641652	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT641651	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT491440	hsa-miR-3928-5p	PAR-CLIP	23592263
MIRT491438	hsa-miR-6806-3p	PAR-CLIP	23592263
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT491437	hsa-miR-3195	PAR-CLIP	23592263
MIRT491436	hsa-miR-4533	PAR-CLIP	23592263
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	26701625
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	26701625
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	26701625
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	26701625
MIRT491437	hsa-miR-3195	PAR-CLIP	26701625
MIRT491437	hsa-miR-3195	PAR-CLIP	26701625
MIRT491437	hsa-miR-3195	PAR-CLIP	26701625
MIRT491437	hsa-miR-3195	PAR-CLIP	26701625
MIRT491440	hsa-miR-3928-5p	PAR-CLIP	26701625
MIRT491436	hsa-miR-4533	PAR-CLIP	26701625
MIRT491436	hsa-miR-4533	PAR-CLIP	26701625
MIRT491436	hsa-miR-4533	PAR-CLIP	26701625
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT491438	hsa-miR-6806-3p	PAR-CLIP	26701625
MIRT736458	hsa-miR-410-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	33209671
MIRT724823	hsa-miR-4293	HITS-CLIP	19536157
MIRT724822	hsa-miR-148b-5p	HITS-CLIP	19536157
MIRT724821	hsa-miR-6874-3p	HITS-CLIP	19536157
MIRT724820	hsa-miR-4277	HITS-CLIP	19536157
MIRT724819	hsa-miR-181a-2-3p	HITS-CLIP	19536157
MIRT724818	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT724817	hsa-miR-3660	HITS-CLIP	19536157
MIRT724816	hsa-miR-4526	HITS-CLIP	19536157
MIRT724815	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT724814	hsa-miR-2277-3p	HITS-CLIP	19536157
MIRT724813	hsa-miR-6509-3p	HITS-CLIP	19536157
MIRT724812	hsa-miR-4436b-5p	HITS-CLIP	19536157
MIRT724811	hsa-miR-3686	HITS-CLIP	19536157
MIRT724810	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT724809	hsa-miR-503-3p	HITS-CLIP	19536157
MIRT650547	hsa-miR-587	HITS-CLIP	23824327
MIRT641655	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT641654	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT641653	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT641652	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT641651	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT491440	hsa-miR-3928-5p	PAR-CLIP	23592263
MIRT491438	hsa-miR-6806-3p	PAR-CLIP	23592263
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT491437	hsa-miR-3195	PAR-CLIP	23592263
MIRT491436	hsa-miR-4533	PAR-CLIP	23592263
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT1162039	hsa-miR-1185	CLIP-seq
MIRT1162040	hsa-miR-1197	CLIP-seq
MIRT1162041	hsa-miR-1237	CLIP-seq
MIRT1162042	hsa-miR-1253	CLIP-seq
MIRT1162043	hsa-miR-1294	CLIP-seq
MIRT1162044	hsa-miR-1323	CLIP-seq
MIRT1162045	hsa-miR-135a	CLIP-seq
MIRT1162046	hsa-miR-135b	CLIP-seq
MIRT1162047	hsa-miR-142-5p	CLIP-seq
MIRT1162048	hsa-miR-1908	CLIP-seq
MIRT1162049	hsa-miR-1913	CLIP-seq
MIRT1162050	hsa-miR-197	CLIP-seq
MIRT1162051	hsa-miR-3117-3p	CLIP-seq
MIRT1162052	hsa-miR-3119	CLIP-seq
MIRT1162053	hsa-miR-3121-5p	CLIP-seq
MIRT1162054	hsa-miR-3151	CLIP-seq
MIRT1162055	hsa-miR-3163	CLIP-seq
MIRT1162056	hsa-miR-3180	CLIP-seq
MIRT1162057	hsa-miR-3180-3p	CLIP-seq
MIRT1162058	hsa-miR-3196	CLIP-seq
MIRT1162059	hsa-miR-324-3p	CLIP-seq
MIRT1162060	hsa-miR-329	CLIP-seq
MIRT1162061	hsa-miR-3605-5p	CLIP-seq
MIRT1162062	hsa-miR-362-3p	CLIP-seq
MIRT1162063	hsa-miR-3647-3p	CLIP-seq
MIRT1162064	hsa-miR-3653	CLIP-seq
MIRT1162065	hsa-miR-3658	CLIP-seq
MIRT1162066	hsa-miR-3679-5p	CLIP-seq
MIRT1162067	hsa-miR-3691-3p	CLIP-seq
MIRT1162068	hsa-miR-3919	CLIP-seq
MIRT1162069	hsa-miR-3941	CLIP-seq
MIRT1162070	hsa-miR-409-5p	CLIP-seq
MIRT1162071	hsa-miR-410	CLIP-seq
MIRT1162072	hsa-miR-4263	CLIP-seq
MIRT1162073	hsa-miR-4282	CLIP-seq
MIRT1162074	hsa-miR-4287	CLIP-seq
MIRT1162075	hsa-miR-4313	CLIP-seq
MIRT1162076	hsa-miR-4316	CLIP-seq
MIRT1162077	hsa-miR-4422	CLIP-seq
MIRT1162078	hsa-miR-4447	CLIP-seq
MIRT1162079	hsa-miR-4469	CLIP-seq
MIRT1162080	hsa-miR-4472	CLIP-seq
MIRT1162081	hsa-miR-4476	CLIP-seq
MIRT1162082	hsa-miR-4488	CLIP-seq
MIRT1162083	hsa-miR-4495	CLIP-seq
MIRT1162084	hsa-miR-450b-5p	CLIP-seq
MIRT1162085	hsa-miR-4520a-3p	CLIP-seq
MIRT1162086	hsa-miR-4677-3p	CLIP-seq
MIRT1162087	hsa-miR-4679	CLIP-seq
MIRT1162088	hsa-miR-4685-3p	CLIP-seq
MIRT1162089	hsa-miR-4697-5p	CLIP-seq
MIRT1162090	hsa-miR-4724-3p	CLIP-seq
MIRT1162091	hsa-miR-4727-5p	CLIP-seq
MIRT1162092	hsa-miR-4735-5p	CLIP-seq
MIRT1162093	hsa-miR-507	CLIP-seq
MIRT1162094	hsa-miR-5096	CLIP-seq
MIRT1162095	hsa-miR-518a-5p	CLIP-seq
MIRT1162096	hsa-miR-527	CLIP-seq
MIRT1162097	hsa-miR-541	CLIP-seq
MIRT1162098	hsa-miR-548c-3p	CLIP-seq
MIRT1162099	hsa-miR-548l	CLIP-seq
MIRT1162100	hsa-miR-548n	CLIP-seq
MIRT1162101	hsa-miR-548o	CLIP-seq
MIRT1162102	hsa-miR-557	CLIP-seq
MIRT1162103	hsa-miR-561	CLIP-seq
MIRT1162104	hsa-miR-576-5p	CLIP-seq
MIRT1162105	hsa-miR-580	CLIP-seq
MIRT1162106	hsa-miR-603	CLIP-seq
MIRT1162107	hsa-miR-642a	CLIP-seq
MIRT1162108	hsa-miR-651	CLIP-seq
MIRT1162109	hsa-miR-654-5p	CLIP-seq
MIRT1162110	hsa-miR-663	CLIP-seq
MIRT2046447	hsa-miR-1291	CLIP-seq
MIRT2046448	hsa-miR-1293	CLIP-seq
MIRT2046449	hsa-miR-146b-3p	CLIP-seq
MIRT2046450	hsa-miR-185	CLIP-seq
MIRT1162048	hsa-miR-1908	CLIP-seq
MIRT2046451	hsa-miR-3158-3p	CLIP-seq
MIRT2046452	hsa-miR-3175	CLIP-seq
MIRT1162056	hsa-miR-3180	CLIP-seq
MIRT1162057	hsa-miR-3180-3p	CLIP-seq
MIRT1162058	hsa-miR-3196	CLIP-seq
MIRT2046453	hsa-miR-328	CLIP-seq
MIRT2046454	hsa-miR-339-5p	CLIP-seq
MIRT2046455	hsa-miR-4306	CLIP-seq
MIRT2046456	hsa-miR-4440	CLIP-seq
MIRT1162078	hsa-miR-4447	CLIP-seq
MIRT1162080	hsa-miR-4472	CLIP-seq
MIRT2046457	hsa-miR-4483	CLIP-seq
MIRT1162082	hsa-miR-4488	CLIP-seq
MIRT2046458	hsa-miR-4644	CLIP-seq
MIRT1162089	hsa-miR-4697-5p	CLIP-seq
MIRT2046459	hsa-miR-4723-5p	CLIP-seq
MIRT2046460	hsa-miR-513a-3p	CLIP-seq
MIRT2046461	hsa-miR-644	CLIP-seq
MIRT1162110	hsa-miR-663	CLIP-seq
MIRT2046462	hsa-miR-663b	CLIP-seq
MIRT2275541	hsa-miR-1266	CLIP-seq
MIRT2275542	hsa-miR-1278	CLIP-seq
MIRT2046447	hsa-miR-1291	CLIP-seq
MIRT2046448	hsa-miR-1293	CLIP-seq
MIRT2046449	hsa-miR-146b-3p	CLIP-seq
MIRT2046450	hsa-miR-185	CLIP-seq
MIRT1162048	hsa-miR-1908	CLIP-seq
MIRT2275543	hsa-miR-1915	CLIP-seq
MIRT2275544	hsa-miR-193a-3p	CLIP-seq
MIRT2275545	hsa-miR-193b	CLIP-seq
MIRT2275546	hsa-miR-2278	CLIP-seq
MIRT2275547	hsa-miR-2682	CLIP-seq
MIRT2275548	hsa-miR-3064-5p	CLIP-seq
MIRT2046452	hsa-miR-3175	CLIP-seq
MIRT1162056	hsa-miR-3180	CLIP-seq
MIRT1162057	hsa-miR-3180-3p	CLIP-seq
MIRT1162058	hsa-miR-3196	CLIP-seq
MIRT2046453	hsa-miR-328	CLIP-seq
MIRT2046454	hsa-miR-339-5p	CLIP-seq
MIRT2275549	hsa-miR-3652	CLIP-seq
MIRT2275550	hsa-miR-3664-3p	CLIP-seq
MIRT2275551	hsa-miR-3677-3p	CLIP-seq
MIRT2275552	hsa-miR-4297	CLIP-seq
MIRT2046455	hsa-miR-4306	CLIP-seq
MIRT2275553	hsa-miR-4320	CLIP-seq
MIRT2275554	hsa-miR-4419a	CLIP-seq
MIRT2275555	hsa-miR-4430	CLIP-seq
MIRT2275556	hsa-miR-4433	CLIP-seq
MIRT2046456	hsa-miR-4440	CLIP-seq
MIRT1162078	hsa-miR-4447	CLIP-seq
MIRT1162080	hsa-miR-4472	CLIP-seq
MIRT2046457	hsa-miR-4483	CLIP-seq
MIRT1162082	hsa-miR-4488	CLIP-seq
MIRT2275557	hsa-miR-449c	CLIP-seq
MIRT2275558	hsa-miR-4505	CLIP-seq
MIRT2275559	hsa-miR-4510	CLIP-seq
MIRT2275560	hsa-miR-4514	CLIP-seq
MIRT2275561	hsa-miR-4518	CLIP-seq
MIRT2275562	hsa-miR-4524	CLIP-seq
MIRT2046458	hsa-miR-4644	CLIP-seq
MIRT2275563	hsa-miR-4645-5p	CLIP-seq
MIRT2275564	hsa-miR-4659a-3p	CLIP-seq
MIRT2275565	hsa-miR-4659b-3p	CLIP-seq
MIRT2275566	hsa-miR-4673	CLIP-seq
MIRT2275567	hsa-miR-4678	CLIP-seq
MIRT2275568	hsa-miR-4692	CLIP-seq
MIRT1162089	hsa-miR-4697-5p	CLIP-seq
MIRT2275569	hsa-miR-4722-5p	CLIP-seq
MIRT2046459	hsa-miR-4723-5p	CLIP-seq
MIRT2275570	hsa-miR-4726-3p	CLIP-seq
MIRT1162104	hsa-miR-576-5p	CLIP-seq
MIRT2046461	hsa-miR-644	CLIP-seq
MIRT1162110	hsa-miR-663	CLIP-seq
MIRT2046462	hsa-miR-663b	CLIP-seq
MIRT2275571	hsa-miR-892b	CLIP-seq
MIRT2275572	hsa-miR-942	CLIP-seq
MIRT2046450	hsa-miR-185	CLIP-seq
MIRT1162048	hsa-miR-1908	CLIP-seq
MIRT2046452	hsa-miR-3175	CLIP-seq
MIRT1162056	hsa-miR-3180	CLIP-seq
MIRT1162057	hsa-miR-3180-3p	CLIP-seq
MIRT1162058	hsa-miR-3196	CLIP-seq
MIRT2046455	hsa-miR-4306	CLIP-seq
MIRT1162078	hsa-miR-4447	CLIP-seq
MIRT1162080	hsa-miR-4472	CLIP-seq
MIRT1162082	hsa-miR-4488	CLIP-seq
MIRT2046458	hsa-miR-4644	CLIP-seq
MIRT1162089	hsa-miR-4697-5p	CLIP-seq
MIRT2046459	hsa-miR-4723-5p	CLIP-seq
MIRT1162110	hsa-miR-663	CLIP-seq
MIRT2046450	hsa-miR-185	CLIP-seq
MIRT2431271	hsa-miR-3125	CLIP-seq
MIRT2431272	hsa-miR-3916	CLIP-seq
MIRT2046455	hsa-miR-4306	CLIP-seq
MIRT2275554	hsa-miR-4419a	CLIP-seq
MIRT2431273	hsa-miR-4496	CLIP-seq
MIRT2275559	hsa-miR-4510	CLIP-seq
MIRT2046458	hsa-miR-4644	CLIP-seq

Show/Hide all(74)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	14671321
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001503	Process	Ossification	IEA
GO:0001503	Process	Ossification	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0002063	Process	Chondrocyte development	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003161	Process	Cardiac conduction system development	NAS	26786210
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:0003416	Process	Endochondral bone growth	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12145306, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035313	Process	Wound healing, spreading of epidermal cells	IEA
GO:0035880	Process	Embryonic nail plate morphogenesis	IEA
GO:0042060	Process	Wound healing	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	9073066
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045617	Process	Negative regulation of keratinocyte differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0048598	Process	Embryonic morphogenesis	IBA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051795	Process	Positive regulation of timing of catagen	IEA
GO:0060346	Process	Bone trabecula formation	IEA
GO:0060349	Process	Bone morphogenesis	IEA
GO:0060363	Process	Cranial suture morphogenesis	TAS	8968743
GO:0060364	Process	Frontal suture morphogenesis	IEA
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IEA
GO:0061180	Process	Mammary gland epithelium development	IEA
GO:0061311	Process	Cell surface receptor signaling pathway involved in heart development	IEA
GO:0070166	Process	Enamel mineralization	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IEA
GO:0090427	Process	Activation of meiosis	IEA
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001055	Process	Positive regulation of mesenchymal cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
123101	7392	ENSG00000120149

Protein

UniProt ID

P35548

Protein name

Homeobox protein MSX-2 (Homeobox protein Hox-8)

Protein function

Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in li

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	143 → 199	Homeodomain	Domain

Sequence

MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVEALMSDKKPPK
EASPLPAESASAGATLRPLLLSGHGAREAHSPGPLVKPFETASVKSENSEDGAAWMQEPG
RYSPPPRHMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLSIAERAEFSSSLN
LTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPSSFSLPFPISSPLQAASIYGASY
PFHRPVLPIPPVGLYATPVGYGMYHLS

Sequence length

267

Interactions

View interactions

	KEGG
	Human T-cell leukemia virus 1 infection

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Craniosynostosis	Craniosynostosis 2	rs104893895	N/A
Parietal Foramina	parietal foramina 1	rs2113498725, rs104893896, rs121912971, rs121912972, rs1561643060	N/A
Parietal Foramina With Cleidocranial Dysplasia	parietal foramina with cleidocranial dysplasia	rs1561643029	N/A

Show/Hide Unknown Diseases (3)

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.
craniosynostosis syndrome	Craniosynostosis syndrome	N/A	N/A	ClinVar
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Hypertension	Resistant hypertension	N/A	N/A	GWAS

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	23874428
Ameloblastoma	Associate	18854600
Arthritis	Associate	33958655
Breast Neoplasms	Associate	20682066, 21730974
Bruck syndrome 1	Associate	27146342
Calcinosis	Associate	22874762
Carcinogenesis	Associate	31261501
Carcinoma Ductal	Associate	20961362
Carcinoma Pancreatic Ductal	Associate	20961362
Carcinoma Renal Cell	Associate	36344906
Cleft Lip	Associate	16327884
Cleft Palate	Associate	16327884, 31122291
Colorectal Neoplasms	Associate	28286778
Craniosynostoses	Associate	16319823, 27884935
Craniosynostosis Type 2	Associate	18786927
Dextrocardia	Associate	23342975
Diabetes Mellitus	Associate	28286778
Double Outlet Right Ventricle	Associate	26556783
Encephalocele	Associate	16319823
fryns hofkens fabry syndrome	Associate	23342975
Graves Ophthalmopathy	Associate	29214313
Hecht Scott syndrome	Associate	23342975
Hypotrichosis And Recurrent Skin Vesicles	Associate	23342975
Infertility	Associate	27312535
Intellectual Disability	Associate	16319823
Lymphatic Metastasis	Associate	28286778
Melanoma	Associate	21730974, 36012688
Neoplasm Metastasis	Associate	28286778
Neoplasms	Associate	20682066, 27088357, 28344356
Neoplasms	Stimulate	28286778
Neoplasms	Inhibit	34435915
Non Muscle Invasive Bladder Neoplasms	Associate	28344356
Odontogenic Tumors	Associate	18854600, 36344906
Osteoarthritis	Associate	20060954
Pancreatic Neoplasms	Associate	16425399, 20961362, 31261501
Pancreatitis Chronic	Associate	20961362
Parietal Foramina	Associate	16319823
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	19835636
Radial Neuropathy	Associate	23342975
Skull Neoplasms	Associate	16319823
Spondylitis Ankylosing	Associate	33958655
Squamous Cell Carcinoma of Head and Neck	Inhibit	34435915
Temporomandibular ankylosis	Associate	22071418
Uterine Diseases	Associate	27312535
Vascular Calcification	Associate	23038096

MSX2 (msh homeobox 2)