MNX1 - motor neuron and pancreas homeobox 1 Gene

Also Known as HB9; HLXB9; SCRA1; HOXHB9

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 3110

About MNX1

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:157,004,854-157,010,663 (from NCBI)

This gene has 8 transcripts (splice variants), 169 orthologues and is associated with 53 phenotypes. Biased expression in colon (RPKM 3.3), small intestine (RPKM 2.3) and 7 other tissues.

Summary

This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

MNX1 Products (2)

mRNA	Protein	Name
NM_001165255.2	NP_001158727.1	motor neuron and pancreas homeobox protein 1 isoform 2
NM_005515.4	NP_005506.3	motor neuron and pancreas homeobox protein 1 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
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

MNX1 Protein Structure

Homeobox

0
100
200
300
401 a.a.

Protein Preferred Names	Protein Names
motor neuron and pancreas homeobox protein 1	homeobox HB9

MNX1 抗体

製品番号	製品名	アプリケーション	反応性
HY-P82670	HB9 Antibody (YA2415)	WB, IP	Human, Mouse

関連疾患

Diseases	Alias
Currarino Syndrome	Currarino Triad Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation CURRAS
Meningocele	Isolated Spina Bifida Spina Bifida Cleft Spine Open Spine Rachischisis Spinal Dysraphism Spinal Meningocele Congenital Meningocele
Anorectal Anomalies
Teratoma	Teratomas
Oeis Complex	Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Omphalocele Exstrophy Imperforate Anus
Bladder Exstrophy	Exstrophy Of The Bladder Classic Exstrophy Of The Bladder
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
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
Benign Teratoma	Dermoid Cyst Cystic Dermoid Choristoma Dermoid Choristoma Mature Cystic Teratoma Dermoid Tumour Teratoma, Benign Dermoid Cyst Of Ovary
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
Tethered Spinal Cord Syndrome	Spinal Dysraphism Tethered Cord Syndrome Occult Spinal Dysraphism Occult Spinal Dysraphism Sequence Segmental Vertebral Anomalies Tethered Spinal Cord Disease Tethered Cord Spina Bifida Occulta Cryptomerorachischisis Spina Bifida Occulta With Tethered Spinal Cord Sbo - [Spina Bifida Occulta]
Pancreatic Agenesis	Partial Pancreatic Agenesis Congenital Pancreatic Agenesis Partial Agenesis Of The Pancreas Agenesis, Pancreatic Pancreatic Agenesis, Congenital
Phelan-Mcdermid Syndrome	Chromosome 22q13.3 Deletion Syndrome 22q13.3 Deletion Syndrome Telomeric 22q13 Monosomy Syndrome PHMDS Deletion 22q13 Syndrome 22q13.3 Deletion Deletion 22q13.3 Syndrome Monosomy 22q13 Monosomy 22q13.3 22q13 Deletion Syndrome Monosomy 22q13 Syndrome 22q13 Deletion Chromosome Deletion
Neuronopathy, Distal Hereditary Motor, Type I	Dhmn1 Hmn I Distal Hereditary Motor Neuronopathy Type 1 Autosomal Dominant Distal Juvenile Spinal Muscular Atrophy Type 1 Neuronopathy, Distal Hereditary Motor, Type 1 HMN1 Neuropathy, Distal Hereditary Motor, Type I Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I Charcot-Marie-Tooth Disease, Spinal, I Distal Hereditary Motor Neuropathy Type I Spinal Charcot-Marie-Tooth Disease 1 Distal Hereditary Motor Neuropathy Type 1 Neuropathy, Motor, Distal, Hereditary, Type I
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	FTDALS4 Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-4 Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 4
Anus Disease	Anal Fissure Ulcer Of Anus Anus Diseases Anal Disease Anal Fissure And Fistula Anal Ulcer Fissure In Ano Nontraumatic Tear Of Anus Solitary Anal Ulcer Abnormality Of The Anus Anal Disorders Ulcer Of Anus And Rectum Solitary Ulcer Of Anus Stercoral Ulcer Of Anus
Cloacal Exstrophy	Oeis Complex Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex Cloacal Exstrophy Sequence Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Omphalocele Exstrophy Imperforate Anus
Holoprosencephaly 3	HPE3 Hlp3 Holoprosencephaly-3 Holoprosencephaly, Type 3
Permanent Neonatal Diabetes Mellitus	Pndm Permanent Diabetes Mellitus Of Infancy Pdmi Neonatal Diabetes Mellitus, Permanent
Cystic Teratoma	Dermoid Cyst Benign Teratoma
Acheiropody	Acheiropodia ACHP Acheiropody, Brazilian Type Horn-Kolb Syndrome Horn Kolb Syndrome Acheiropody Brazilian Type
Neonatal Diabetes	Neonatal Diabetes Mellitus Diabetes Mellitus Syndrome In Newborn Infant Ndm
Solitary Median Maxillary Central Incisor	SMMCI Fused Incisors Single Upper Central Incisor Single Central Maxillary Incisor Single Median Maxillary Central Incisor Solitary Median Maxillary Central Incisor Syndrome Incisors Fused Incisors, Fused
Vacterl Association	Vater Association Vater Syndrome
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
Omphalocele	Omphalocoele Congenital Omphalocele Exomphalos Exumbilication
Rectal Disease	Rectal Diseases Rectal Disorders
Neurogenic Bladder	Neurogenic Dysfunction Of The Urinary Bladder Neurogenic Urinary Bladder Disorder Neuropathic Bladder Bladder Neurogenic Urinary Bladder, Neurogenic Neurogenic Urinary Bladder
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (4)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS08571	MNX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174579	Human MNX1 mRNA		/	Unkown
HY-RS20296	Mnx1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26804	Mnx1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	MNX1	VGNC	VGNC:102639
Canis familiaris	MNX1	VGNC	VGNC:56080
Bos taurus	MNX1	VGNC	VGNC:53660
Mus musculus	MNX1	MGD	MGI:109160
Macaca mulatta	MNX1	VGNC	VGNC:108421
Rattus norvegicus	MNX1	RGD	RGD:1588091
Others	MNX1	NCBI