1. Gene
  2. MNX1 - motor neuron and pancreas homeobox 1 Gene

MNX1 - motor neuron and pancreas homeobox 1 Gene

Homo sapiens

Also known as HB9; HLXB9; SCRA1; HOXHB9

Gene ID: 3110 | Gene type: protein coding

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

MNX1 Protein Structure

Homeobox

Homeobox: Homeobox domain (242 - 298)

  • 0
  • 100
  • 200
  • 300
  • 401 a.a.
Protein Preferred Names Protein Names

motor neuron and pancreas homeobox protein 1

homeobox HB9

Related Diseases

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

Orthologs Information

Species Symbol Source 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