O43763 (TLX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
T-cell leukemia homeobox protein 2

Alternative name(s):
Homeobox protein Hox-11L1
Neural crest homeobox protein

Gene names

Name:	TLX2
Synonyms:	HOX11L1, NCX

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	284 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription activator that binds DNA elements with the consensus sequence 5'-CGGTAATTGG-3'. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract By similarity.
Subcellular location	Nucleus Probable.
Sequence similarities	Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	enteric nervous system development Inferred from electronic annotation. Source: Compara mesoderm formation Inferred from electronic annotation. Source: Compara negative regulation of dendrite morphogenesis Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 284

284

T-cell leukemia homeobox protein 2

PRO_0000049336

Regions

DNA binding

157 – 216

60

Homeobox Ref.6

Compositional bias

27 – 115

89

Gly-rich

Experimental info

Sequence conflict

16

1

P → A in CAA05636. Ref.2

Sequence conflict

30 – 32

3

TPG → PR in CAA05636. Ref.2

Sequence conflict

37 – 48

12

LGRGG…HGENG → WVAGQVIGEWA in CAA05636. Ref.2

Sequence conflict

100 – 102

3

Missing in CAA05636. Ref.2

Sequence conflict

131 – 136

6

RLTAAL → PAV in CAA05636. Ref.2

Sequence conflict

196

1

M → T no nucleotide entry Ref.5

Sequence conflict

219

1

Missing in CAA05636. Ref.2

Sequence conflict

241

1

R → T in CAA05636. Ref.2

Sequence conflict

274

1

V → A in CAA05636. Ref.2

Secondary structure

1

.

.

.

.

.

.

.

284

Helix Strand Turn

Details...

Helix

166 – 178

13

Helix

184 – 194

11

Helix

198 – 215

18

Sequences

	Sequence		Length	Mass (Da)
	O43763 [UniParc]. Last modified May 10, 2002. Version 2. Checksum: 794B07A9E7817939	FASTA	284	30,251
	10 20 30 40 50 60 MEPGMLGPHN LPHHEPISFG IDQILSGPET PGGGLGLGRG GQGHGENGAF SGGYHGASGY 70 80 90 100 110 120 GPAGSLAPLP GSSGVGPGGV IRVPAHRPLP VPPPAGGAPA VPGPSGLGGA GGLAGLTFPW 130 140 150 160 170 180 MDSGRRFAKD RLTAALSPFS GTRRIGHPYQ NRTPPKRKKP RTSFSRSQVL ELERRFLRQK 190 200 210 220 230 240 YLASAERAAL AKALRMTDAQ VKTWFQNRRT KWRRQTAEER EAERHRAGRL LLHLQQDALP 250 260 270 280 RPLRPPLPPD PLCLHNSSLF ALQNLQPWAE DNKVASVSGL ASVV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"An enhancer element for expression of the Ncx (Enx, Hox11L1) gene in neural crest-derived cells." Iitsuka Y., Shimizu H., Kang M.M., Sasagawa K., Sekiya S., Tokuhisa T., Hatano M. J. Biol. Chem. 274:24401-24407(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Genomic characterization and chromosomal location of the human homeobox gene HOX11L1." Delgado P., Rodriguez R.E., Gonzalez-Sarmiento R. Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[5]	"Identification of homeobox genes expressed in human haemopoietic progenitor cells." Moretti P., Simmons P., Thomas P., Haylock D., Rathjen P., Vadas M., D'Andrea R. Gene 144:213-219(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 165-203. Tissue: Bone marrow.
[6]	"Cooperative DNA-binding and sequence-recognition mechanism of aristaless and clawless." Miyazono K., Zhi Y., Takamura Y., Nagata K., Saigo K., Kojima T., Tanokura M. EMBO J. 29:1613-1623(2010) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.54 ANGSTROMS) OF 162-216, DNA-BINDING.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AB008501 mRNA. Translation: BAA83463.1.
AJ002607, AJ002608, AJ002609 Genomic DNA. Translation: CAA05636.1.
AC005041 Genomic DNA. No translation available.
BC006356 mRNA. Translation: AAH06356.1.

IPI

IPI00013948.

RefSeq

NP_057254.1. NM_016170.4.

UniGene

Hs.168586.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3A03	X-ray	1.54	A	162-216	[»]

ProteinModelPortal

O43763.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000233638.

PTM databases

PhosphoSite

O43763.

Proteomic databases

PaxDb

O43763.

PRIDE

O43763.

Protocols and materials databases

DNASU

3196.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000233638; ENSP00000233638; ENSG00000115297.

GeneID

3196.

KEGG

hsa:3196.

UCSC

uc002smb.2. human.

Organism-specific databases

CTD

3196.

GeneCards

GC02P074740.

HGNC

HGNC:5057. TLX2.

HPA

HPA040969.

MIM

604240. gene.

neXtProt

NX_O43763.

PharmGKB

PA35096.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG329715.

HOGENOM

HOG000116280.

HOVERGEN

HBG036206.

InParanoid

O43763.

KO

K15606.

OMA

QHHEPIS.

OrthoDB

EOG4QJRP8.

PhylomeDB

O43763.

Gene expression databases

ArrayExpress

O43763.

Bgee

O43763.

CleanEx

HS_TLX2.

Genevestigator

O43763.

GermOnline

ENSG00000115297. Homo sapiens.

Family and domain databases

Gene3D

1.10.10.60. 1 hit.

InterPro

IPR017970. Homeobox_CS.
IPR020479. Homeobox_metazoa.
IPR001356. Homeodomain.
IPR009057. Homeodomain-like.
[Graphical view]

Pfam

PF00046. Homeobox. 1 hit.
[Graphical view]

PRINTS

PR00024. HOMEOBOX.

SMART

SM00389. HOX. 1 hit.
[Graphical view]

SUPFAM

SSF46689. Homeodomain_like. 1 hit.

PROSITE

PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

O43763.

GenomeRNAi

3196.

NextBio

12712.

SOURCE

Search...

Entry information

Entry name

TLX2_HUMAN

Accession

Primary (citable) accession number: O43763
Secondary accession number(s): Q9UD56, Q9UQ48

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	May 10, 2002
Last modified:	May 1, 2013
This is version 112 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.