1. Gene
  2. TLX2 - T cell leukemia homeobox 2 Gene

TLX2 - T cell leukemia homeobox 2 Gene

Homo sapiens

Also known as NCX; HOX11L1

Gene ID: 3196 | Gene type: protein coding

About TLX2

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,514,450-74,517,148 (from NCBI)

This gene has 4 transcripts (splice variants), 89 orthologues and 42 paralogues. Low expression observed in reference dataset.

Summary

This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]

TLX2 Products(1)

mRNA Protein Name
NM_016170.5 NP_057254.1 T-cell leukemia homeobox protein 2
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
10869550 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
10869550 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10869550 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

TLX2 Protein Structure

Homeobox

Homeobox: Homeobox domain (158 - 214)

  • 0
  • 100
  • 200
  • 284 a.a.
Protein Preferred Names Protein Names

T-cell leukemia homeobox protein 2

homeo box 11-like 1

TLX2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
TLX2 O43763 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
TLX2 O43763 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
TLX2 O43763 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
TLX2 O43763 POU6F2 Homo sapiens P78424 32296183
Intra
TLX2 O43763 POU6F2 Homo sapiens P78424 32296183
Intra
TLX2 O43763 POU6F2 Homo sapiens P78424 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Intestinal Pseudo-Obstruction

Chronic Intestinal Pseudoobstruction

Chronic Intestinal Pseudo-Obstruction

Cipo

Neuronal Intestinal Dysplasia

Hollow Visceral Myopathy

Familial Visceral Neuropathy

Paralytic Ileus

Intestinal Pseudoobstruction

Chronic Idiopathic Intestinal Pseudo-Obstruction

Ciip

Congenital Short Bowel Syndrome

Enteric Neuropathy

Familial Visceral Myopathy

Ipo

Pseudo-Obstruction Of Intestine

Pseudointestinal Obstruction Syndrome

Pseudoobstructive Syndrome

Congenital Idiopathic Intestinal Pseudoobstruction

Visceral Myopathy, Familial

Megacolon

Dilatation Of Colon

N Syndrome

NSX

Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia

Congenital Central Hypoventilation Syndrome

Cchs

Haddad Syndrome

Ondine Curse

Ondine Syndrome

Congenital Central Hypoventilation

Congenital Central Alveolar Hypoventilation Syndrome

Congenital Failure Of Autonomic Control

Ondine'S Curse

Primary Alveolar Hypoventilation

Ondine-Hirschsprung Disease

Central Congenital Hypoventilation Syndrome

Congenital Ondine Curse

Idiopathic Congenital Central Alveolar Hypoventilation

Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

Ondine-Hirschsprung Syndrome

Mowat-Wilson Syndrome

MOWS

Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease

Hirschsprung Disease-Mental Retardation Syndrome

Mowat-Wilson Syndrome Due To Monosomy 2q22

Hirschsprung Disease Mental Retardation Syndrome

Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease

Hirschsprung Disease - Intellectual Disability Syndrome

Hirschsprung Disease Intellectual Disability Syndrome

Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease

Mws

Hirschsprung Disease-Intellectual Disability Syndrome

Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion

Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)

Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22

Mowat-Wilson Syndrome Due To 2q22 Microdeletion

Mowat-Wilson Syndrome Due To Del(2)Q(22)

Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation

Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

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
Rattus norvegicus TLX2 RGD RGD:1595506
Mus musculus TLX2 MGD MGI:1350935
Macaca mulatta TLX2 VGNC VGNC:106233