1. Gene
  2. EN2 - engrailed homeobox 2 Gene

EN2 - engrailed homeobox 2 Gene

中文名称:同源异型盒 2

种属: Homo sapiens

基因 ID: 2020 | 基因类型: protein coding

关于 EN2

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:155,458,129-155,464,831 (from NCBI)

This gene has 1 transcript (splice variant), 212 orthologues, 3 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

功能概要

含有同源框的基因被认为在控制发育中起作用。在果蝇中,'engrailed' (en) 基因在分割发育过程中起着重要作用,它是形成后隔室所必需的。小鼠同系物 En1 和 En2 中的不同突变产生了不同的发育缺陷,这些缺陷通常是致命的。人类 engrailed 同系物 1 和 2 编码含有同源结构域的蛋白质,并且与中枢神经系统发育过程中模式形成的控制有关。[RefSeq 提供,2008 年 7 月]

Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]

EN2 基因产物(1)

mRNA Protein Name
NM_001427.4 NP_001418.2 homeobox protein engrailed-2

EN2 蛋白结构

Homeobox

Homeobox: Homeobox domain (245 - 301)

Engrail_1_C_sig

Engrail_1_C_sig: Engrailed homeobox C-terminal signature domain (302 - 333)

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

homeobox protein engrailed-2

engrailed homolog 2

关联疾病

疾病名称 别名
Cerebellar Hypoplasia
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Hyperinsulinemic Hypoglycemia, Familial, 4

Hyperinsulinism Due To Glutamodehydrogenase Deficiency

HHF4

Familial Hyperinsulinemic Hypoglycemia 4

Hyperinsulinemic Hypoglycemia Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Hyperinsulinism Due To Schad Deficiency

Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Congenital Hyperinsulinism

Schad Deficiency

Persistent Hyperinsulinemic Hypoglycemia Of Infancy

Phhi

3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Currarino Syndrome

Currarino Triad

Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation

CURRAS

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Keratomalacia

Vitamin A Deficiency

Night Blindness

Retinol Deficiency

Xerotic Keratitis

VAD

Vitamin A

Hypovitaminosis A

Bitot Spots

Bitot Spots In The Young Child

Conjunctival Xerosis With Bitot'S Spots

Vitamin A Deficiency With Cornea Xerosis

Vitamin A Deficiency With Cornea Ulceration Or Xerosis

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

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Canis familiaris EN2 VGNC VGNC:51801
Bos taurus EN2 VGNC VGNC:106724
Felis catus EN2 VGNC VGNC:102580
Rattus norvegicus EN2 RGD RGD:1561842
Mus musculus EN2 MGD MGI:95390
Macaca mulatta EN2 VGNC VGNC:108398
Macaca fascicularis EN2 NCBI
Others EN2 NCBI