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Retina and anterior neural fold homeobox protein 2 (Q50-type retinal homeobox protein) (Retina and anterior neural fold homeobox-like protein 1)

 RAX2_HUMAN              Reviewed;         184 AA.
Q96IS3;
01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
01-DEC-2001, sequence version 1.
12-SEP-2018, entry version 144.
RecName: Full=Retina and anterior neural fold homeobox protein 2;
AltName: Full=Q50-type retinal homeobox protein;
AltName: Full=Retina and anterior neural fold homeobox-like protein 1;
Name=RAX2; Synonyms=QRX, RAXL1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
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, AND CHARACTERIZATION OF
VARIANTS CORD11 GLY-PRO-140 INS AND ARG-137.
PubMed=15028672; DOI=10.1093/hmg/ddh117;
Wang Q.-L., Chen S., Esumi N., Swain P.K., Haines H.S., Peng G.,
Melia B.M., McIntosh I., Heckenlively J.R., Jacobson S.G., Stone E.M.,
Swaroop A., Zack D.J.;
"QRX, a novel homeobox gene, modulates photoreceptor gene
expression.";
Hum. Mol. Genet. 13:1025-1040(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057824; DOI=10.1038/nature02399;
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.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Eye;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
-!- FUNCTION: May be involved in modulating the expression of
photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element
within the rhodopsin promoter. {ECO:0000269|PubMed:15028672}.
-!- SUBUNIT: Interacts with CRX. {ECO:0000269|PubMed:15028672}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00108}.
-!- DOMAIN: The Homeobox transactivates the Ret-1 element in the
presence of CRX and NRL.
-!- DISEASE: Macular degeneration, age-related, 6 (ARMD6)
[MIM:613757]: A 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. {ECO:0000269|PubMed:15028672}.
Note=Disease susceptibility is associated with variations
affecting the gene represented in this entry.
-!- DISEASE: Cone-rod dystrophy 11 (CORD11) [MIM:610381]: An 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, due to cone photoreceptors degenerating at a
higher rate than rod photoreceptors.
{ECO:0000269|PubMed:15028672}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
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EMBL; AY211277; AAP41547.1; -; mRNA.
EMBL; AC005777; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC007284; AAH07284.1; -; mRNA.
EMBL; BC018709; AAH18709.1; -; mRNA.
EMBL; BC032512; AAH32512.1; -; mRNA.
CCDS; CCDS12112.1; -.
RefSeq; NP_001306003.1; NM_001319074.1.
RefSeq; NP_116142.1; NM_032753.3.
UniGene; Hs.532691; -.
ProteinModelPortal; Q96IS3; -.
SMR; Q96IS3; -.
IntAct; Q96IS3; 1.
STRING; 9606.ENSP00000450687; -.
BioMuta; RAX2; -.
DMDM; 74760880; -.
EPD; Q96IS3; -.
PaxDb; Q96IS3; -.
PeptideAtlas; Q96IS3; -.
PRIDE; Q96IS3; -.
ProteomicsDB; 76849; -.
Ensembl; ENST00000555633; ENSP00000450456; ENSG00000173976.
Ensembl; ENST00000555978; ENSP00000450687; ENSG00000173976.
GeneID; 84839; -.
KEGG; hsa:84839; -.
UCSC; uc002lyr.4; human.
CTD; 84839; -.
DisGeNET; 84839; -.
EuPathDB; HostDB:ENSG00000173976.15; -.
GeneCards; RAX2; -.
HGNC; HGNC:18286; RAX2.
HPA; HPA052533; -.
MalaCards; RAX2; -.
MIM; 610362; gene.
MIM; 610381; phenotype.
MIM; 613757; phenotype.
neXtProt; NX_Q96IS3; -.
OpenTargets; ENSG00000173976; -.
Orphanet; 1872; Cone rod dystrophy.
PharmGKB; PA162400734; -.
eggNOG; KOG0490; Eukaryota.
eggNOG; ENOG410YIJ3; LUCA.
GeneTree; ENSGT00900000140809; -.
HOGENOM; HOG000231518; -.
HOVERGEN; HBG021349; -.
InParanoid; Q96IS3; -.
KO; K09333; -.
OMA; SMVDDSC; -.
OrthoDB; EOG091G0SKL; -.
PhylomeDB; Q96IS3; -.
ChiTaRS; RAX2; human.
GenomeRNAi; 84839; -.
PRO; PR:Q96IS3; -.
Proteomes; UP000005640; Chromosome 19.
Bgee; ENSG00000173976; Expressed in 95 organ(s), highest expression level in tendon of biceps brachii.
CleanEx; HS_RAX2; -.
Genevisible; Q96IS3; HS.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0000978; F:RNA polymerase II proximal promoter sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
CDD; cd00086; homeodomain; 1.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR036934; Homeobox_RAX2.
PANTHER; PTHR24329:SF81; PTHR24329:SF81; 1.
Pfam; PF00046; Homeobox; 1.
SMART; SM00389; HOX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
1: Evidence at protein level;
Age-related macular degeneration; Complete proteome;
Cone-rod dystrophy; Disease mutation; DNA-binding; Homeobox; Nucleus;
Reference proteome; Sensory transduction; Transcription;
Transcription regulation; Vision.
CHAIN 1 184 Retina and anterior neural fold homeobox
protein 2.
/FTId=PRO_0000285048.
DNA_BIND 27 86 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
COMPBIAS 98 140 Pro-rich.
VARIANT 87 87 R -> Q (in ARMD6; increased
transactivation and DNA-binding activity;
dbSNP:rs121908280).
{ECO:0000269|PubMed:15028672}.
/FTId=VAR_031907.
VARIANT 137 137 G -> R (in CORD11; decreased interaction
with Crx and transactivation activity;
dbSNP:rs121908281).
{ECO:0000269|PubMed:15028672}.
/FTId=VAR_031908.
VARIANT 140 140 P -> PGP (in CORD11; decreased
interaction with Crx and increased
transactivation activity).
/FTId=VAR_031909.
SEQUENCE 184 AA; 20086 MW; DE2FC85C4A4DE063 CRC64;
MFLSPGEGPA TEGGGLGPGE EAPKKKHRRN RTTFTTYQLH QLERAFEASH YPDVYSREEL
AAKVHLPEVR VQVWFQNRRA KWRRQERLES GSGAVAAPRL PEAPALPFAR PPAMSLPLEP
WLGPGPPAVP GLPRLLGPGP GLQASFGPHA FAPTFADGFA LEEASLRLLA KEHAQALDRA
WPPA


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