EN2 - engrailed homeobox 2 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2020

About 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.

Summary

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 Products (1)

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

EN2 Protein Structure

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.
Protein Preferred Names Protein Names

homeobox protein engrailed-2

  • engrailed homolog 2

Related Diseases

Diseases Alias
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

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
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
Others EN2 NCBI