MESP2 - mesoderm posterior bHLH transcription factor 2 Gene

Also Known as SCDO2; bHLHc6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 145873

About MESP2

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:89,776,332-89,778,754 (from NCBI)

This gene has 3 transcripts (splice variants), 280 orthologues, 2 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

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 mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]

MESP2 Products (1)

mRNA	Protein	Name
NM_001039958.2	NP_001035047.1	mesoderm posterior protein 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MESP2 Protein Structure

HLH

0
100
200
300
397 a.a.

Protein Preferred Names	Protein Names
mesoderm posterior protein 2	class C basic helix-loop-helix protein 6

Related Diseases

Diseases	Alias
Spondylocostal Dysostosis 2, Autosomal Recessive	SCDO2 Spondylocostal Dysostosis, Autosomal Recessive 2 Spondylocostal Dysostosis 2 Autosomal Recessive Spondylocostal Dysostosis 2 Doid:0112362 Dysostosis, Spondylocostal, Autosomal Recessive, Type 2
Spondylocostal Dysostosis 5	Spondylothoracic Dysostosis SCDO5 Jarcho-Levin Syndrome Scoliosis, Congenital, With Or Without Rib Anomalies Tacs Spondylocostal Dysplasia Costovertebral Segmentation Anomalies Spondylocostal Dysostosis 1 Spondylocostal Dysostosis Spondylothoracic Dysplasia Scdo1 Spondylocostal Dysostosis 1 Autosomal Recessive Costovertebral Dysplasia Scdo Std Autosomal Dominant Spondylocostal Dysostosis Autosomal Dominant Spondylocostal Dysplasia Doid:0112363 Spondylocostal Dysostosis 4, Autosomal Dominant
Spondylocostal Dysostosis, Autosomal Recessive	Autosomal Recessive Spondylocostal Dysostosis Jarcho-Levin Syndrome Costovertebral Dysplasia Spondylocostal Dysplasia Spondylocostal Dysostosis, Autosomal Recessive 2
Spondylocostal Dysostosis	Jarcho-Levin Syndrome Costovertebral Dysplasia Spondylothoracic Dysostosis Spondylothoracic Dysplasia Scdo Dysostosis, Spondylocostal
Spondylocostal Dysostosis 1, Autosomal Recessive	Jarcho-Levin Syndrome SCDO1 Vertebral Anomalies Spondylothoracic Dysplasia Costovertebral Dysplasia Spondylothoracic Dysostosis Spondylocostal Dysostosis 1 Autosomal Recessive Spondylocostal Dysostosis 1 Spondylocostal Dysostosis, Autosomal Recessive, 1 Doid:0112365 Dysostosis, Spondylocostal, Autosomal Recessive, Type 1
Dysostosis	Dysostoses
Spondylocostal Dysostosis 4, Autosomal Recessive	SCDO4 Spondylocostal Dysostosis 4 Autosomal Recessive Spondylocostal Dysostosis 4 Doid:0112364 Dysostosis, Spondylocostal, Autosomal Recessive, Type 4
Scoliosis
Hajdu-Cheney Syndrome	Acroosteolysis With Osteoporosis And Changes In Skull And Mandible Cheney Syndrome Arthrodentoosteodysplasia HJCYS Serpentine Fibula-Polycystic Kidney Syndrome Sfpks Acroosteolysis Dominant Type Serpentine Fibula-Polycystic Kidneys Syndrome Arthro-Dento-Osteo Dysplasia Cranioskeletal Dysplasia With Acro-Osteolysis Familial Osteodysplasia Hereditary Osteodysplasia With Acro-Osteolysis Hcs Serpentine Fibula Syndrome Acro-Osteolysis Serpentine Fibula Polycystic Kidney Syndrome
Axial Osteomalacia	Atypical Osteomalacia Involving The Axial Skeleton
Klippel-Feil Syndrome	Cervical Vertebral Fusion Congenital Dystrophia Brevicollis Cervical Fusion Syndrome Klippel-Feil Deformity Autosomal Dominant Klippel-Feil Syndrome Congenital Synostosis Of Cervical Vertebrae Klippel-Feil And Turner Syndrome Klippel-Feil Deformity, Deafness And Facial Asymmetry Klippel Feil Syndrome Cervical Vertebral Fusion Syndrome Dystrophia Brevicollis Congenita Fusion Of Cervical Vertebrae Kfs Klippel-Feil Sequence Vertebral Cervical Fusion Syndrome Klippel-Feil Syndrome, Autosomal Dominant Klippel-Feil Malformation Isolated Klippel-Feil Syndrome
Boomerang Dysplasia	BOOMD Boomerang-Like Skeletal Dysplasia Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies Piepkorn Dysplasia Dysplasia, Boomerang
Sacral Defect With Anterior Meningocele	Caudal Regression Syndrome Caudal Regression Sequence Sacral Agenesis Caudal Dysgenesis Syndrome SDAM Caudal Dysplasia Sequence Caudal Dysplasia Sacral Agenesis Syndrome Sacral Regression Syndrome Sacral Defect And Anterior Sacral Meningocele Rudd Klimek Syndrome Sirenomelia
Meningocele	Isolated Spina Bifida Spina Bifida Cleft Spine Open Spine Rachischisis Spinal Dysraphism Spinal Meningocele Congenital Meningocele
Alagille Syndrome 1	Alagille Syndrome Arteriohepatic Dysplasia Alagille-Watson Syndrome Cholestasis With Peripheral Pulmonary Stenosis Hepatic Ductular Hypoplasia Alagille Syndrome Due To A Jag1 Point Mutation ALGS1 Algs Aws Syndromic Bile Duct Paucity Cardiovertebral Syndrome Hepatofacioneurocardiovertebral Syndrome Paucity Of Interlobular Bile Ducts Watson-Miller Syndrome Alagille Syndrome Due To 20p12 Microdeletion Ahd Hepatic Ductular Hypoplasia, Syndromatic Watson Alagille Syndrome Alagille'S Syndrome Alagille Syndrome Due To Del(20)(P12) Alagille Syndrome Due To Monosomy 20p12 Alagille-Watson Syndrome Due To Monosomy 20p12 Arteriohepatic Dysplasia Due To Monosomy 20p12 Syndromic Bile Duct Paucity Due To Monosomy 20p12 Alagille-Watson Syndrome Due To A Jag1 Point Mutation Arteriohepatic Dysplasia Due To A Jag1 Point Mutation Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation Alagille Syndrome, Type 1
Lateral Meningocele Syndrome	Lehman Syndrome Lms LMNS Meningocele, Lateral Syndrome
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Bone Structure Disease
Adams-Oliver Syndrome	Adams Oliver Syndrome Aos Congenital Scalp Defects With Distal Limb Reduction Anomalies Aplasia Cutis Congenita With Terminal Transverse Limb Defects Congenital Scalp Defects With Distal Limb Anomalies Limb, Scalp And Skull Defects Limb Scalp And Skull Defects Absence Defect Of Limbs, Scalp, And Skull
Bone Development Disease
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08343	MESP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MESP2	VGNC	VGNC:74619
Bos taurus	MESP2	VGNC	VGNC:53945
Mus musculus	MESP2	MGD	MGI:1096325
Canis familiaris	MESP2	VGNC	VGNC:43164
Rattus norvegicus	MESP2	RGD	RGD:1305959
Others	MESP2	NCBI