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

MNX1 - motor neuron and pancreas homeobox 1 Gene

中文名称:运动神经元和胰腺同源盒 1

种属: Homo sapiens

同用名: HB9; HLXB9; SCRA1; HOXHB9

基因 ID: 3110 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种核蛋白,它包含一个同源框结构域,是一种转录因子。该基因的突变会导致 Currarino 综合征,这是一种常染色体显性先天性畸形。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MNX1 蛋白结构

Homeobox

Homeobox: Homeobox domain (242 - 298)

  • 0
  • 100
  • 200
  • 300
  • 401 a.a.
蛋白主名 其他名称

motor neuron and pancreas homeobox protein 1

homeobox HB9

MNX1 抗体

目录号 产品名 应用 反应物种
HY-P82670 HB9 Antibody (YA2415) WB, IP Human, Mouse

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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