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Protein

Retina and anterior neural fold homeobox protein 2

Gene

RAX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi27 – 8660HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Transcription, Transcription regulation, Vision

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Retina and anterior neural fold homeobox protein 2
Alternative name(s):
Q50-type retinal homeobox protein
Retina and anterior neural fold homeobox-like protein 1
Gene namesi
Name:RAX2
Synonyms:QRX, RAXL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:18286. RAX2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Macular degeneration, age-related, 6 (ARMD6)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
See also OMIM:613757
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871R → Q in ARMD6; increased transactivation and DNA-binding activity. 1 Publication
Corresponds to variant rs121908280 [ dbSNP | Ensembl ].
VAR_031907
Cone-rod dystrophy 11 (CORD11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.
See also OMIM:610381
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371G → R in CORD11; decreased interaction with Crx and transactivation activity. 1 Publication
VAR_031908
Natural varianti140 – 1401P → PGP in CORD11; decreased interaction with Crx and increased transactivation activity.
VAR_031909

Keywords - Diseasei

Age-related macular degeneration, Cone-rod dystrophy, Disease mutation

Organism-specific databases

MalaCardsiRAX2.
MIMi610381. phenotype.
613757. phenotype.
Orphaneti1872. Cone rod dystrophy.
PharmGKBiPA162400734.

Polymorphism and mutation databases

BioMutaiRAX2.
DMDMi74760880.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 184184Retina and anterior neural fold homeobox protein 2PRO_0000285048Add
BLAST

Proteomic databases

EPDiQ96IS3.
PaxDbiQ96IS3.
PRIDEiQ96IS3.

Expressioni

Gene expression databases

BgeeiQ96IS3.
CleanExiHS_RAX2.
GenevisibleiQ96IS3. HS.

Organism-specific databases

HPAiHPA052533.

Interactioni

Subunit structurei

Interacts with CRX.1 Publication

Protein-protein interaction databases

IntActiQ96IS3. 1 interaction.
STRINGi9606.ENSP00000450687.

Structurei

3D structure databases

ProteinModelPortaliQ96IS3.
SMRiQ96IS3. Positions 33-83.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi98 – 14043Pro-richAdd
BLAST

Domaini

The Homeobox transactivates the Ret-1 element in the presence of CRX and NRL.

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG021349.
InParanoidiQ96IS3.
KOiK09333.
OMAiFGPHAFG.
OrthoDBiEOG7T1RC6.
PhylomeDBiQ96IS3.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96IS3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFLSPGEGPA TEGGGLGPGE EAPKKKHRRN RTTFTTYQLH QLERAFEASH
60 70 80 90 100
YPDVYSREEL AAKVHLPEVR VQVWFQNRRA KWRRQERLES GSGAVAAPRL
110 120 130 140 150
PEAPALPFAR PPAMSLPLEP WLGPGPPAVP GLPRLLGPGP GLQASFGPHA
160 170 180
FAPTFADGFA LEEASLRLLA KEHAQALDRA WPPA
Length:184
Mass (Da):20,086
Last modified:December 1, 2001 - v1
Checksum:iDE2FC85C4A4DE063
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871R → Q in ARMD6; increased transactivation and DNA-binding activity. 1 Publication
Corresponds to variant rs121908280 [ dbSNP | Ensembl ].
VAR_031907
Natural varianti137 – 1371G → R in CORD11; decreased interaction with Crx and transactivation activity. 1 Publication
VAR_031908
Natural varianti140 – 1401P → PGP in CORD11; decreased interaction with Crx and increased transactivation activity.
VAR_031909

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY211277 mRNA. Translation: AAP41547.1.
AC005777 Genomic DNA. No translation available.
BC007284 mRNA. Translation: AAH07284.1.
BC018709 mRNA. Translation: AAH18709.1.
BC032512 mRNA. Translation: AAH32512.1.
CCDSiCCDS12112.1.
RefSeqiNP_001306003.1. NM_001319074.1.
NP_116142.1. NM_032753.3.
UniGeneiHs.532691.

Genome annotation databases

EnsembliENST00000555633; ENSP00000450456; ENSG00000173976.
ENST00000555978; ENSP00000450687; ENSG00000173976.
GeneIDi84839.
KEGGihsa:84839.
UCSCiuc002lyr.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY211277 mRNA. Translation: AAP41547.1.
AC005777 Genomic DNA. No translation available.
BC007284 mRNA. Translation: AAH07284.1.
BC018709 mRNA. Translation: AAH18709.1.
BC032512 mRNA. Translation: AAH32512.1.
CCDSiCCDS12112.1.
RefSeqiNP_001306003.1. NM_001319074.1.
NP_116142.1. NM_032753.3.
UniGeneiHs.532691.

3D structure databases

ProteinModelPortaliQ96IS3.
SMRiQ96IS3. Positions 33-83.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ96IS3. 1 interaction.
STRINGi9606.ENSP00000450687.

Polymorphism and mutation databases

BioMutaiRAX2.
DMDMi74760880.

Proteomic databases

EPDiQ96IS3.
PaxDbiQ96IS3.
PRIDEiQ96IS3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000555633; ENSP00000450456; ENSG00000173976.
ENST00000555978; ENSP00000450687; ENSG00000173976.
GeneIDi84839.
KEGGihsa:84839.
UCSCiuc002lyr.4. human.

Organism-specific databases

CTDi84839.
GeneCardsiRAX2.
HGNCiHGNC:18286. RAX2.
HPAiHPA052533.
MalaCardsiRAX2.
MIMi610362. gene.
610381. phenotype.
613757. phenotype.
neXtProtiNX_Q96IS3.
Orphaneti1872. Cone rod dystrophy.
PharmGKBiPA162400734.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG021349.
InParanoidiQ96IS3.
KOiK09333.
OMAiFGPHAFG.
OrthoDBiEOG7T1RC6.
PhylomeDBiQ96IS3.

Miscellaneous databases

GenomeRNAii84839.
PROiQ96IS3.
SOURCEiSearch...

Gene expression databases

BgeeiQ96IS3.
CleanExiHS_RAX2.
GenevisibleiQ96IS3. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH CRX, VARIANT ARMD6 GLN-87, VARIANTS CORD11 GLY-PRO-140 INS AND ARG-137, CHARACTERIZATION OF VARIANT ARMD6 GLN-87, CHARACTERIZATION OF VARIANTS CORD11 GLY-PRO-140 INS AND ARG-137.
  2. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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: Eye.

Entry informationi

Entry nameiRAX2_HUMAN
AccessioniPrimary (citable) accession number: Q96IS3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: December 1, 2001
Last modified: June 8, 2016
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.