PRRX2_HUMAN
ID PRRX2_HUMAN Reviewed; 253 AA.
AC Q99811; Q5SZB5; Q9UIB3;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2001, sequence version 2.
DT 03-AUG-2022, entry version 189.
DE RecName: Full=Paired mesoderm homeobox protein 2;
DE AltName: Full=Paired-related homeobox protein 2;
DE Short=PRX-2;
GN Name=PRRX2; Synonyms=PMX2, PRX2;
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].
RX PubMed=11063257; DOI=10.1007/s003350010193;
RA Norris R.A., Scott K.K., Moore C.S., Stetten G., Brown C.R., Jabs E.W.,
RA Wulfsberg E.A., Yu J., Kern M.J.;
RT "Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization,
RT and exclusion as disease genes for Nager syndrome.";
RL Mamm. Genome 11:1000-1005(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 90-253, FUNCTION, TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RC TISSUE=Fetal fibroblast;
RX PubMed=9665387; DOI=10.1046/j.1523-1747.1998.00238.x;
RA Stelnicki E.J., Arbeit J., Cass D.L., Saner C., Harrison M., Largman C.;
RT "Modulation of the human homeobox genes PRX-2 and HOXB13 in scarless fetal
RT wounds.";
RL J. Invest. Dermatol. 111:57-63(1998).
CC -!- FUNCTION: May play a role in the scarless healing of cutaneous wounds
CC during the first two trimesters of development.
CC {ECO:0000269|PubMed:9665387}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108,
CC ECO:0000255|PROSITE-ProRule:PRU00138}.
CC -!- TISSUE SPECIFICITY: In fetal skin, highest expression found in cells of
CC mesodermal origin within the dermal papilla of the developing hair
CC shaft. Not detected in epidermis or dermis. In adult skin, weakly
CC expressed within the basal layers of the epidermis. Not expressed in
CC dermis. {ECO:0000269|PubMed:9665387}.
CC -!- DEVELOPMENTAL STAGE: Higher expression in fetus than in adult.
CC {ECO:0000269|PubMed:9665387}.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/PRRX2ID42897ch9q34.html";
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DR EMBL; AF061970; AAF17708.1; -; mRNA.
DR EMBL; AL590369; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW87901.1; -; Genomic_DNA.
DR EMBL; BC014645; AAH14645.1; -; mRNA.
DR EMBL; U81600; AAB39864.1; -; mRNA.
DR CCDS; CCDS6926.1; -.
DR RefSeq; NP_057391.1; NM_016307.3.
DR AlphaFoldDB; Q99811; -.
DR SMR; Q99811; -.
DR BioGRID; 119548; 1.
DR CORUM; Q99811; -.
DR STRING; 9606.ENSP00000361547; -.
DR iPTMnet; Q99811; -.
DR PhosphoSitePlus; Q99811; -.
DR BioMuta; PRRX2; -.
DR DMDM; 12644475; -.
DR jPOST; Q99811; -.
DR MassIVE; Q99811; -.
DR PaxDb; Q99811; -.
DR PeptideAtlas; Q99811; -.
DR PRIDE; Q99811; -.
DR ProteomicsDB; 78488; -.
DR Antibodypedia; 31430; 158 antibodies from 25 providers.
DR DNASU; 51450; -.
DR Ensembl; ENST00000372469.6; ENSP00000361547.4; ENSG00000167157.11.
DR GeneID; 51450; -.
DR KEGG; hsa:51450; -.
DR MANE-Select; ENST00000372469.6; ENSP00000361547.4; NM_016307.4; NP_057391.1.
DR UCSC; uc004byh.4; human.
DR CTD; 51450; -.
DR DisGeNET; 51450; -.
DR GeneCards; PRRX2; -.
DR HGNC; HGNC:21338; PRRX2.
DR HPA; ENSG00000167157; Tissue enhanced (skin).
DR MIM; 604675; gene.
DR neXtProt; NX_Q99811; -.
DR OpenTargets; ENSG00000167157; -.
DR PharmGKB; PA134871679; -.
DR VEuPathDB; HostDB:ENSG00000167157; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000161643; -.
DR HOGENOM; CLU_087323_0_0_1; -.
DR InParanoid; Q99811; -.
DR OMA; KAREYSM; -.
DR OrthoDB; 1413050at2759; -.
DR PhylomeDB; Q99811; -.
DR TreeFam; TF351612; -.
DR PathwayCommons; Q99811; -.
DR SignaLink; Q99811; -.
DR BioGRID-ORCS; 51450; 13 hits in 1090 CRISPR screens.
DR ChiTaRS; PRRX2; human.
DR GeneWiki; PRRX2; -.
DR GenomeRNAi; 51450; -.
DR Pharos; Q99811; Tbio.
DR PRO; PR:Q99811; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q99811; protein.
DR Bgee; ENSG00000167157; Expressed in ascending aorta and 134 other tissues.
DR ExpressionAtlas; Q99811; baseline and differential.
DR Genevisible; Q99811; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:UniProtKB.
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; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; NAS:UniProtKB.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR003654; OAR_dom.
DR InterPro; IPR043378; PRRX1/2.
DR PANTHER; PTHR46385; PTHR46385; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF03826; OAR; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS50803; OAR; 1.
PE 2: Evidence at transcript level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..253
FT /note="Paired mesoderm homeobox protein 2"
FT /id="PRO_0000049255"
FT DNA_BIND 104..163
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 REGION 55..113
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 230..243
FT /note="OAR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00138"
FT COMPBIAS 14..28
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 90
FT /note="P -> S (in Ref. 5; AAB39864)"
FT /evidence="ECO:0000305"
FT CONFLICT 96..98
FT /note="SAA -> RPP (in Ref. 5; AAB39864)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 253 AA; 27079 MW; C7A861D46DC46DD3 CRC64;
MDSAAAAFAL DKPALGPGPP PPPPALGPGD CAQARKNFSV SHLLDLEEVA AAGRLAARPG
ARAEAREGAA REPSGGSSGS EAAPQDGECP SPGRGSAAKR KKKQRRNRTT FNSSQLQALE
RVFERTHYPD AFVREELARR VNLSEARVQV WFQNRRAKFR RNERAMLASR SASLLKSYSQ
EAAIEQPVAP RPTALSPDYL SWTASSPYST VPPYSPGSSG PATPGVNMAN SIASLRLKAK
EFSLHHSQVP TVN
