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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	145873
Gene name	Mesoderm posterior bHLH transcription factor 2
Gene symbol	MESP2
Synonyms (NCBI Gene)	SCDO2bHLHc6
Chromosome	15
Chromosome location	15q26.1
Summary	This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesod

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs71647806	C>G	Pathogenic	Missense variant, coding sequence variant
rs71647808	G>A,C,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs113994156	A>G	Pathogenic	Missense variant, coding sequence variant
rs113994157	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs113994158	->ACCG	Pathogenic	Coding sequence variant, frameshift variant
rs118204034	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs118204035	G>T	Pathogenic	Coding sequence variant, stop gained
rs538996447	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs762067626	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs912110093	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1206731716	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1452984345	CAGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555439013	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555439049	->GCAGAGCG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555439061	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555439063	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555439118	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555439152	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1596154534	->G	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021550	hsa-miR-142-3p	Microarray	17612493
MIRT1143303	hsa-miR-22	CLIP-seq
MIRT1143304	hsa-miR-2909	CLIP-seq
MIRT2270475	hsa-miR-1193	CLIP-seq
MIRT2270476	hsa-miR-1343	CLIP-seq
MIRT2270477	hsa-miR-3169	CLIP-seq
MIRT2270478	hsa-miR-3688-3p	CLIP-seq
MIRT2270479	hsa-miR-3690	CLIP-seq
MIRT2270480	hsa-miR-3978	CLIP-seq
MIRT2270481	hsa-miR-4254	CLIP-seq
MIRT2270482	hsa-miR-4740-5p	CLIP-seq
MIRT2270483	hsa-miR-583	CLIP-seq

Show/Hide all (16)

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:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001707	Process	Mesoderm formation	IBA
GO:0003007	Process	Heart morphogenesis	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0032525	Process	Somite rostral/caudal axis specification	IBA
GO:0046983	Function	Protein dimerization activity	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
605195	29659	ENSG00000188095

Q0VG99

Protein name

Mesoderm posterior protein 2 (Class C basic helix-loop-helix protein 6) (bHLHc6)

Protein function

Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Also regulates the FGF signaling pathway. Specifies the rostral half of the somites. Genera

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	82 → 136	Helix-loop-helix DNA-binding domain	Domain

Sequence

MAQSPPPQSLLGHDHWIFAQGWGWAGHWDSTSPASSSDSSGSCPCDGARGLPQPQPPSCS
SRAAEAAATTPRRARTGPAGGQRQSASEREKLRMRTLARALHELRRFLPPSLAPAGQSLT
KIETLRLAIRYIGHLSAVLGLSEESLQCRRRQRGDAGSPWGCPLCPDRGPAEAQTQAEGQ
GQGQGQGQGQGQGQGQGQGQGQGQGRRPGLVSAVLAEASWGSPSACPGAQAAPERLGRGV
HDTDPWATPPYCPKIQSPPYSSQGTTSDASLWTPPQGCPWTQSSPEPRNPPVPWTAAPAT
LELAAVYQGLSVSPEPCLSLGAPSLLPHPSCQRLQPQTPGRCWSHSAEVVPNSEDQGPGA
AFQLSEASPPQSSGLRFSGCPELWQEDLEGARLGIFY

Sequence length

397

Interactions

View interactions

142

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spondylocostal dysostosis 2, autosomal recessive	Pathogenic; Likely pathogenic	rs113994158, rs71647808, rs118204035, rs2505184685, rs2505184605, rs118204034, rs1555439013, rs1555439118, rs912110093, rs762067626, rs1452984345, rs1555439061, rs538996447, rs1555439152, rs1206731716, rs1555439049, rs1555439063 View all (2 more)	RCV000005492 RCV000005493 RCV000005495 RCV003236476 RCV003388863 RCV000032155 RCV000670586 RCV000673076 RCV000667887 RCV000673463 RCV000671183 RCV000673120 RCV000666082 RCV000669986 RCV000671724 RCV000673749 RCV000666771

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
MESP2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs758214625, rs754567634, rs185706635, rs77473319, rs758115773, rs566641514, rs113636330, rs187680280, rs548112443, rs201904631, rs534821207, rs866276096, rs753168674	RCV004757438 RCV003908633 RCV003891882 RCV003957433 RCV003956466 RCV003920337 RCV003957641 RCV003953297 RCV003910836 RCV003975767 RCV003960471 RCV003962941 RCV003928809
Spondylocostal dysostosis	Likely benign; Benign; Uncertain significance	rs139599055, rs56192595, rs3840032, rs11073889	RCV000401541 RCV000360187 RCV000302725 RCV000280139

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Dysostoses	Associate	16385447
Jarcho Levin syndrome	Associate	15122512

MESP2 (mesoderm posterior bHLH transcription factor 2)