RAX2_HUMAN
ID RAX2_HUMAN Reviewed; 184 AA.
AC Q96IS3;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 166.
DE RecName: Full=Retina and anterior neural fold homeobox protein 2;
DE AltName: Full=Q50-type retinal homeobox protein;
DE AltName: Full=Retina and anterior neural fold homeobox-like protein 1;
GN Name=RAX2; Synonyms=QRX, RAXL1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH CRX, VARIANT ARMD6
RP GLN-87, VARIANTS CORD11 GLY-PRO-140 INS AND ARG-137, CHARACTERIZATION OF
RP VARIANT ARMD6 GLN-87, AND CHARACTERIZATION OF VARIANTS CORD11 GLY-PRO-140
RP INS AND ARG-137.
RX PubMed=15028672; DOI=10.1093/hmg/ddh117;
RA Wang Q.-L., Chen S., Esumi N., Swain P.K., Haines H.S., Peng G.,
RA Melia B.M., McIntosh I., Heckenlively J.R., Jacobson S.G., Stone E.M.,
RA Swaroop A., Zack D.J.;
RT "QRX, a novel homeobox gene, modulates photoreceptor gene expression.";
RL Hum. Mol. Genet. 13:1025-1040(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May be involved in modulating the expression of photoreceptor
CC specific genes. Binds to the Ret-1 and Bat-1 element within the
CC rhodopsin promoter. {ECO:0000269|PubMed:15028672}.
CC -!- SUBUNIT: Interacts with CRX. {ECO:0000269|PubMed:15028672}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- DOMAIN: The Homeobox transactivates the Ret-1 element in the presence
CC of CRX and NRL.
CC -!- DISEASE: Macular degeneration, age-related, 6 (ARMD6) [MIM:613757]: A
CC form of age-related macular degeneration, a multifactorial eye disease
CC and the most common cause of irreversible vision loss in the developed
CC world. In most patients, the disease is manifest as ophthalmoscopically
CC visible yellowish accumulations of protein and lipid that lie beneath
CC the retinal pigment epithelium and within an elastin-containing
CC structure known as Bruch membrane. {ECO:0000269|PubMed:15028672}.
CC Note=Disease susceptibility is associated with variants affecting the
CC gene represented in this entry.
CC -!- DISEASE: Cone-rod dystrophy 11 (CORD11) [MIM:610381]: An inherited
CC retinal dystrophy characterized by retinal pigment deposits visible on
CC fundus examination, predominantly in the macular region, and initial
CC loss of cone photoreceptors followed by rod degeneration. This leads to
CC decreased visual acuity and sensitivity in the central visual field,
CC followed by loss of peripheral vision. Severe loss of vision occurs
CC earlier than in retinitis pigmentosa, due to cone photoreceptors
CC degenerating at a higher rate than rod photoreceptors.
CC {ECO:0000269|PubMed:15028672}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AY211277; AAP41547.1; -; mRNA.
DR EMBL; AC005777; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC007284; AAH07284.1; -; mRNA.
DR EMBL; BC018709; AAH18709.1; -; mRNA.
DR EMBL; BC032512; AAH32512.1; -; mRNA.
DR CCDS; CCDS12112.1; -.
DR RefSeq; NP_001306003.1; NM_001319074.1.
DR RefSeq; NP_116142.1; NM_032753.3.
DR AlphaFoldDB; Q96IS3; -.
DR SMR; Q96IS3; -.
DR IntAct; Q96IS3; 1.
DR STRING; 9606.ENSP00000450456; -.
DR BioMuta; RAX2; -.
DR DMDM; 74760880; -.
DR EPD; Q96IS3; -.
DR MassIVE; Q96IS3; -.
DR PaxDb; Q96IS3; -.
DR PeptideAtlas; Q96IS3; -.
DR PRIDE; Q96IS3; -.
DR ProteomicsDB; 76849; -.
DR Antibodypedia; 11029; 46 antibodies from 18 providers.
DR DNASU; 84839; -.
DR Ensembl; ENST00000555633.3; ENSP00000450456.3; ENSG00000173976.16.
DR Ensembl; ENST00000555978.5; ENSP00000450687.2; ENSG00000173976.16.
DR GeneID; 84839; -.
DR KEGG; hsa:84839; -.
DR MANE-Select; ENST00000555633.3; ENSP00000450456.3; NM_001319074.4; NP_001306003.2.
DR UCSC; uc002lyr.4; human.
DR CTD; 84839; -.
DR DisGeNET; 84839; -.
DR GeneCards; RAX2; -.
DR HGNC; HGNC:18286; RAX2.
DR HPA; ENSG00000173976; Tissue enriched (retina).
DR MalaCards; RAX2; -.
DR MIM; 610362; gene.
DR MIM; 610381; phenotype.
DR MIM; 613757; phenotype.
DR neXtProt; NX_Q96IS3; -.
DR OpenTargets; ENSG00000173976; -.
DR Orphanet; 1872; Cone rod dystrophy.
DR PharmGKB; PA162400734; -.
DR VEuPathDB; HostDB:ENSG00000173976; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000163572; -.
DR HOGENOM; CLU_047013_4_0_1; -.
DR InParanoid; Q96IS3; -.
DR OMA; MFLSKCE; -.
DR OrthoDB; 1085093at2759; -.
DR PhylomeDB; Q96IS3; -.
DR PathwayCommons; Q96IS3; -.
DR SignaLink; Q96IS3; -.
DR BioGRID-ORCS; 84839; 11 hits in 1085 CRISPR screens.
DR ChiTaRS; RAX2; human.
DR GenomeRNAi; 84839; -.
DR Pharos; Q96IS3; Tbio.
DR PRO; PR:Q96IS3; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96IS3; protein.
DR Bgee; ENSG00000173976; Expressed in tendon of biceps brachii and 32 other tissues.
DR Genevisible; Q96IS3; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR036934; Homeobox_RAX2.
DR InterPro; IPR043562; RAX/RAX2.
DR PANTHER; PTHR46271; PTHR46271; 1.
DR PANTHER; PTHR46271:SF2; PTHR46271:SF2; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Age-related macular degeneration; Cone-rod dystrophy; Disease variant;
KW DNA-binding; Homeobox; Nucleus; Reference proteome; Sensory transduction;
KW Transcription; Transcription regulation; Vision.
FT CHAIN 1..184
FT /note="Retina and anterior neural fold homeobox protein 2"
FT /id="PRO_0000285048"
FT DNA_BIND 27..86
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..33
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 87
FT /note="R -> Q (in ARMD6; increased transactivation and DNA-
FT binding activity; dbSNP:rs121908280)"
FT /evidence="ECO:0000269|PubMed:15028672"
FT /id="VAR_031907"
FT VARIANT 137
FT /note="G -> R (in CORD11; decreased interaction with Crx
FT and transactivation activity; dbSNP:rs121908281)"
FT /evidence="ECO:0000269|PubMed:15028672"
FT /id="VAR_031908"
FT VARIANT 140
FT /note="P -> PGP (in CORD11; decreased interaction with Crx
FT and increased transactivation activity)"
FT /id="VAR_031909"
SQ 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
