Q0VG99 (MESP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mesoderm posterior protein 2

Alternative name(s):
Class C basic helix-loop-helix protein 6
Short name=bHLHc6

Gene names

Name:	MESP2
Synonyms:	BHLHC6, SCDO2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	397 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm.
Subcellular location	Nucleus By similarity.
Post-translational modification	Degraded by the proteasome By similarity.
Polymorphism	The number of GQ repeats at position 179 is polymorphic.
Involvement in disease	Spondylocostal dysostosis 2 (SCDO2) [MIM:608681]: An autosomal recessive condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.
Sequence caution	The sequence DAA00304.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Notch signaling pathway Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Dwarfism
Domain	Repeat
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Notch signaling pathway Inferred from electronic annotation. Source: UniProtKB-KW mesodermal cell migration Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara signal transduction involved in regulation of gene expression Inferred from electronic annotation. Source: Compara somitogenesis Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 397	397	Mesoderm posterior protein 2		PRO_0000296301
Regions
	Domain	81 – 135	55	bHLH
	Repeat	179 – 180	2	1
	Repeat	181 – 182	2	2
	Repeat	183 – 184	2	3
	Repeat	185 – 186	2	4
	Repeat	187 – 188	2	5
	Repeat	189 – 190	2	6
	Repeat	191 – 192	2	7
	Repeat	193 – 194	2	8
	Repeat	195 – 196	2	9
	Repeat	197 – 198	2	10
	Repeat	199 – 200	2	11
	Repeat	201 – 202	2	12
	Repeat	203 – 204	2	13
	Region	179 – 204	26	13 X 2 AA tandem repeats of G-Q
Natural variations
	Natural variant	66	1	A → G. Ref.5		VAR_046779
	Natural variant	125	1	L → V in a patient with spondylocostal dysostosis; inactive. Ref.5		VAR_046780
	Natural variant	138	1	V → M. Corresponds to variant rs28462216 [ dbSNP | Ensembl ].		VAR_061257
	Natural variant	224	1	S → F. Ref.5		VAR_046781
Experimental info
	Sequence conflict	202 – 205	4	Missing in AAI11414. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q0VG99 [UniParc]. Last modified March 2, 2010. Version 2. Checksum: 6CC8A423D23BF88B	FASTA	397	41,760
	10 20 30 40 50 60 MAQSPPPQSL LGHDHWIFAQ GWGWAGHWDS TSPASSSDSS GSCPCDGARG LPQPQPPSCS 70 80 90 100 110 120 SRAAEAAATT PRRARTGPAG GQRQSASERE KLRMRTLARA LHELRRFLPP SLAPAGQSLT 130 140 150 160 170 180 KIETLRLAIR YIGHLSAVLG LSEESLQCRR RQRGDAGSPW GCPLCPDRGP AEAQTQAEGQ 190 200 210 220 230 240 GQGQGQGQGQ GQGQGQGQGQ GQGQGRRPGL VSAVLAEASW GSPSACPGAQ AAPERLGRGV 250 260 270 280 290 300 HDTDPWATPP YCPKIQSPPY SSQGTTSDAS LWTPPQGCPW TQSSPEPRNP PVPWTAAPAT 310 320 330 340 350 360 LELAAVYQGL SVSPEPCLSL GAPSLLPHPS CQRLQPQTPG RCWSHSAEVV PNSEDQGPGA 370 380 390 AFQLSEASPP QSSGLRFSGC PELWQEDLEG ARLGIFY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening." McLellan A.S., Langlands K., Kealey T. Mech. Dev. 119:S285-S291(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION.
[4]	"Mutated MESP2 causes spondylocostal dysostosis in humans." Whittock N.V., Sparrow D.B., Wouters M.A., Sillence D., Ellard S., Dunwoodie S.L., Turnpenny P.D. Am. J. Hum. Genet. 74:1249-1254(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SCDO2.
[5]	"Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome." Cornier A.S., Staehling-Hampton K., Delventhal K.M., Saga Y., Caubet J.-F., Sasaki N., Ellard S., Young E., Ramirez N., Carlo S.E., Torres J., Emans J.B., Turnpenny P.D., Pourquie O. Am. J. Hum. Genet. 82:1334-1341(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLY-66; VAL-125 AND PHE-224, CHARACTERIZATION OF VARIANT VAL-125.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC079075 Genomic DNA. No translation available. BC111413 mRNA. Translation: AAI11414.1. BK000142 Genomic DNA. Translation: DAA00304.1. Sequence problems.
IPI	IPI00394925.
RefSeq	NP_001035047.1. NM_001039958.1.
UniGene	Hs.37311.
3D structure databases
ProteinModelPortal	Q0VG99.
SMR	Q0VG99. Positions 94-140.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000342392.
PTM databases
PhosphoSite	Q0VG99.
Polymorphism databases
DMDM	290457624.
Proteomic databases
PaxDb	Q0VG99.
PRIDE	Q0VG99.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341735; ENSP00000342392; ENSG00000188095.
GeneID	145873.
KEGG	hsa:145873.
UCSC	uc002bon.3. human.
Organism-specific databases
CTD	145873.
GeneCards	GC15P090319.
H-InvDB	HIX0038295.
HGNC	HGNC:29659. MESP2.
MIM	605195. gene. 608681. phenotype.
neXtProt	NX_Q0VG99.
Orphanet	2311. Autosomal recessive spondylocostal dysostosis.
PharmGKB	PA142671469.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG320808.
HOGENOM	HOG000290634.
HOVERGEN	HBG096371.
InParanoid	Q0VG99.
KO	K09076.
OMA	CWSHSAE.
OrthoDB	EOG4J3WJP.
Gene expression databases
ArrayExpress	Q0VG99.
Bgee	Q0VG99.
CleanEx	HS_MESP2.
Genevestigator	Q0VG99.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	145873.
NextBio	85220.
SOURCE	Search...

Entry information

Entry name

MESP2_HUMAN

Accession

Primary (citable) accession number: Q0VG99
Secondary accession number(s): Q7RTU2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 24, 2007
Last sequence update:	March 2, 2010
Last modified:	May 1, 2013
This is version 65 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.