HUMAN:MSX2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	MSX2 (synonyms: HOX8)
Protein Name(s)	Homeobox protein MSX-2 Homeobox protein Hox-8
External Links
UniProt	P35548
EMBL	X69295 L22499 L22498 S75308 S75361 D31771 D89377 BT009814 AC117531 CH471062 CH471062 BC015509 D14970
CCDS	CCDS4392.1
PIR	A49068
RefSeq	NP_002440.2 XP_006714931.1
UniGene	Hs.89404
ProteinModelPortal	P35548
SMR	P35548
BioGrid	110594
IntAct	P35548
STRING	9606.ENSP00000239243
PhosphoSite	P35548
DMDM	311033429
MaxQB	P35548
PaxDb	P35548
PRIDE	P35548
DNASU	4488
Ensembl	ENST00000239243
GeneID	4488
KEGG	hsa:4488
UCSC	uc003mcy.3
CTD	4488
GeneCards	GC05P174084
GeneReviews	MSX2
H-InvDB	HIX0005431
HGNC	HGNC:7392
HPA	HPA005652
MIM	123101 168500 168550 604757
neXtProt	NX_P35548
Orphanet	1541 60015 251290
PharmGKB	PA31197
eggNOG	NOG298790
GeneTree	ENSGT00770000120486
HOGENOM	HOG000231922
HOVERGEN	HBG005205
InParanoid	P35548
KO	K09341
OMA	PPKEMSS
OrthoDB	EOG70GMGK
PhylomeDB	P35548
TreeFam	TF350699
ChiTaRS	MSX2
GeneWiki	Msh_homeobox_2
GenomeRNAi	4488
NextBio	17363
PRO	PR:P35548
Proteomes	UP000005640
Bgee	P35548
CleanEx	HS_MSX2
ExpressionAtlas	P35548
Genevestigator	P35548
GO	GO:0005634 GO:0005667 GO:0000978 GO:0000982 GO:0001227 GO:0043565 GO:0003712 GO:0044212 GO:0090427 GO:0009952 GO:0061312 GO:0060346 GO:0060444 GO:0071392 GO:0071363 GO:0002063 GO:0060363 GO:0035115 GO:0035116 GO:0035880 GO:0070166 GO:0003416 GO:0003198 GO:0060364 GO:0043066 GO:0008285 GO:0032792 GO:0045599 GO:0045617 GO:0000122 GO:2000678 GO:0045892 GO:0002076 GO:0001649 GO:0003148 GO:0030513 GO:0051795 GO:2001055 GO:0045669 GO:0023019 GO:0035313
Gene3D	1.10.10.60
InterPro	IPR017970 IPR001356 IPR020479 IPR009057
Pfam	PF00046
PRINTS	PR00024
SMART	SM00389
SUPFAM	SSF46689
PROSITE	PS00027 PS50071

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[1]	ECO:0000303	author statement without traceable support used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[1]	ECO:0000255	match to sequence model evidence used in manual assertion	InterPro:IPR000047 InterPro:IPR001356 InterPro:IPR009057	F	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	GO_REF:0000113	ECO:0005556	multiple sequence alignment evidence used in manual assertion	UniProtKB:Q80Z64	F	Seeded From UniProt	complete
involved_in	GO:2000678	negative regulation of transcription regulatory region DNA binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q03358	P	Seeded From UniProt	complete
enables	GO:0003712	transcription coregulator activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q03358	F	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q03358	P	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q03358	P	Seeded From UniProt	complete
enables	GO:0044212	transcription regulatory region DNA binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q03358	F	Seeded From UniProt	complete
involved_in	GO:0001649	osteoblast differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q03358	P	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	PMID:14671321^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0048598	embryonic morphogenesis	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:97168 MGI:MGI:97169 PANTHER:PTN000678062 UniProtKB:P28360 WB:WBGene00006881 ZFIN:ZDB-GENE-980526-26 ZFIN:ZDB-GENE-980526-306 ZFIN:ZDB-GENE-980526-312	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0000492 MGI:MGI:106587 MGI:MGI:97168 PANTHER:PTN000678062 UniProtKB:P28360 UniProtKB:P35548 WB:WBGene00006881	C	Seeded From UniProt	complete
enables	GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:97168 MGI:MGI:97169 PANTHER:PTN000678062 RGD:3116	F	Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	PMID:9073066^[4]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0016607	nuclear speck	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:2001055	positive regulation of mesenchymal cell apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:2000678	negative regulation of transcription regulatory region DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0090427	activation of meiosis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0071392	cellular response to estradiol stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0071363	cellular response to growth factor stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0070166	enamel mineralization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0061312	BMP signaling pathway involved in heart development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0061180	mammary gland epithelium development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0060444	branching involved in mammary gland duct morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0060364	frontal suture morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0060349	bone morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0060346	bone trabecula formation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0051795	positive regulation of timing of catagen	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0051216	cartilage development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0048863	stem cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0045669	positive regulation of osteoblast differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0045617	negative regulation of keratinocyte differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0045599	negative regulation of fat cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
enables	GO:0044212	transcription regulatory region DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	F	Seeded From UniProt	complete
involved_in	GO:0043066	negative regulation of apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0042981	regulation of apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0042733	embryonic digit morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0042476	odontogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0042060	wound healing	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0035880	embryonic nail plate morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0035313	wound healing, spreading of epidermal cells	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0035116	embryonic hindlimb morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0035115	embryonic forelimb morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0032792	negative regulation of CREB transcription factor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0030513	positive regulation of BMP signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0030509	BMP signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0030326	embryonic limb morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0023019	signal transduction involved in regulation of gene expression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0009952	anterior/posterior pattern specification	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0008285	negative regulation of cell population proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
enables	GO:0008134	transcription factor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	F	Seeded From UniProt	complete
enables	GO:0003712	transcription coregulator activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	F	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	F	Seeded From UniProt	complete
involved_in	GO:0003416	endochondral bone growth	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0003151	outflow tract morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0003148	outflow tract septum morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0002076	osteoblast development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0002063	chondrocyte development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0001649	osteoblast differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
involved_in	GO:0001503	ossification	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
enables	GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	F	Seeded From UniProt	complete
enables	GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	F	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q03358 ensembl:ENSMUSP00000021922	P	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001356 InterPro:IPR009057 InterPro:IPR020479	F	Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR017970	P	Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR017970	F	Seeded From UniProt	complete
involved_in	GO:0060363	cranial suture morphogenesis	PMID:8968743^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000037 GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0371 UniProtKB-KW:KW-0238	F	Seeded From UniProt	complete
involved_in	GO:0001503	ossification	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0892	P	Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0217	P	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
↑ Chiba, S et al. (2003) Homeoprotein DLX-1 interacts with Smad4 and blocks a signaling pathway from activin A in hematopoietic cells. Proc. Natl. Acad. Sci. U.S.A. 100 15577-82 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Quinn, LM et al. (1997) Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4. Gene 187 55-61 PubMed GONUTS page
↑ Ma, L et al. (1996) The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. Hum. Mol. Genet. 5 1915-20 PubMed GONUTS page

[PMID:19274049-1] 1.0 ^1.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page

[PMID:14671321-2] Chiba, S et al. (2003) Homeoprotein DLX-1 interacts with Smad4 and blocks a signaling pathway from activin A in hematopoietic cells. Proc. Natl. Acad. Sci. U.S.A. 100 15577-82 PubMed GONUTS page

[PMID:21873635-3] 3.0 ^3.1 ^3.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:9073066-4] Quinn, LM et al. (1997) Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4. Gene 187 55-61 PubMed GONUTS page

[PMID:8968743-5] Ma, L et al. (1996) The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. Hum. Mol. Genet. 5 1915-20 PubMed GONUTS page

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HUMAN:MSX2

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