PROX2_HUMAN
ID PROX2_HUMAN Reviewed; 592 AA.
AC Q3B8N5; C9J5W1; Q8N9Q3;
DT 01-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Prospero homeobox protein 2;
DE AltName: Full=Homeobox prospero-like protein PROX2;
DE Short=PROX-2;
GN Name=PROX2;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-592 (ISOFORM 1).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 107-592 (ISOFORM 2).
RC TISSUE=Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP VARIANT HIS-474.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- FUNCTION: Transcription regulator. Does not seem to be essential for
CC embryonic development and postnatal survival (By similarity).
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3B8N5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3B8N5-2; Sequence=VSP_034528;
CC -!- DOMAIN: The Prospero-type homeodomain and the adjacent Prospero domain
CC act as a single structural unit, the Homeo-Prospero domain.
CC {ECO:0000255|PROSITE-ProRule:PRU01162}.
CC -!- SIMILARITY: Belongs to the Prospero homeodomain family.
CC {ECO:0000255|PROSITE-ProRule:PRU01162}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04278.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC006530; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC105720; AAI05721.1; -; mRNA.
DR EMBL; BC105927; AAI05928.1; -; mRNA.
DR EMBL; AK094068; BAC04278.1; ALT_INIT; mRNA.
DR CCDS; CCDS45136.2; -. [Q3B8N5-2]
DR CCDS; CCDS73663.1; -. [Q3B8N5-1]
DR RefSeq; NP_001073877.2; NM_001080408.2. [Q3B8N5-2]
DR RefSeq; NP_001229936.1; NM_001243007.1.
DR RefSeq; XP_005267600.1; XM_005267543.3. [Q3B8N5-1]
DR AlphaFoldDB; Q3B8N5; -.
DR SMR; Q3B8N5; -.
DR STRING; 9606.ENSP00000451223; -.
DR iPTMnet; Q3B8N5; -.
DR PhosphoSitePlus; Q3B8N5; -.
DR BioMuta; PROX2; -.
DR DMDM; 296452993; -.
DR MassIVE; Q3B8N5; -.
DR MaxQB; Q3B8N5; -.
DR PaxDb; Q3B8N5; -.
DR PeptideAtlas; Q3B8N5; -.
DR PRIDE; Q3B8N5; -.
DR ProteomicsDB; 61672; -. [Q3B8N5-1]
DR ProteomicsDB; 61673; -. [Q3B8N5-2]
DR Antibodypedia; 50733; 77 antibodies from 14 providers.
DR DNASU; 283571; -.
DR Ensembl; ENST00000673765.1; ENSP00000501015.1; ENSG00000119608.15. [Q3B8N5-2]
DR GeneID; 283571; -.
DR KEGG; hsa:283571; -.
DR UCSC; uc001xqq.3; human. [Q3B8N5-1]
DR CTD; 283571; -.
DR DisGeNET; 283571; -.
DR GeneCards; PROX2; -.
DR HGNC; HGNC:26715; PROX2.
DR HPA; ENSG00000119608; Low tissue specificity.
DR MIM; 615094; gene.
DR neXtProt; NX_Q3B8N5; -.
DR OpenTargets; ENSG00000119608; -.
DR PharmGKB; PA162400142; -.
DR eggNOG; KOG3779; Eukaryota.
DR GeneTree; ENSGT00940000154790; -.
DR HOGENOM; CLU_064097_0_0_1; -.
DR InParanoid; Q3B8N5; -.
DR OrthoDB; 373478at2759; -.
DR PhylomeDB; Q3B8N5; -.
DR TreeFam; TF316638; -.
DR PathwayCommons; Q3B8N5; -.
DR BioGRID-ORCS; 283571; 13 hits in 1093 CRISPR screens.
DR GenomeRNAi; 283571; -.
DR Pharos; Q3B8N5; Tbio.
DR PRO; PR:Q3B8N5; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q3B8N5; protein.
DR Bgee; ENSG00000119608; Expressed in stromal cell of endometrium and 91 other tissues.
DR ExpressionAtlas; Q3B8N5; baseline and differential.
DR Genevisible; Q3B8N5; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
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:0048468; P:cell development; IEA:UniProt.
DR GO; GO:0007399; P:nervous system development; IEA:UniProt.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 1.10.10.500; -; 1.
DR InterPro; IPR023082; Homeo_prospero_dom.
DR InterPro; IPR037131; Homeo_prospero_dom_sf.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR039350; Prospero_homeodomain.
DR PANTHER; PTHR12198; PTHR12198; 1.
DR Pfam; PF05044; HPD; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS51818; HOMEO_PROSPERO; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..592
FT /note="Prospero homeobox protein 2"
FT /id="PRO_0000342677"
FT DOMAIN 437..495
FT /note="Prospero-type homeo"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01162"
FT DOMAIN 496..592
FT /note="Prospero"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01162"
FT REGION 20..56
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 85..129
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 155..218
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 308..336
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 353..382
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 437..592
FT /note="Homeo-Prospero"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01162"
FT COMPBIAS 315..331
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 353..375
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 245..471
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_034528"
FT VARIANT 474
FT /note="R -> H (found in a patient with intellectual
FT disability, seizures, mild hypotonia and no speech)"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069378"
FT CONFLICT 434
FT /note="L -> V (in Ref. 2; AAI05721/AAI05928)"
FT /evidence="ECO:0000305"
FT CONFLICT 509
FT /note="N -> D (in Ref. 3; BAC04278)"
FT /evidence="ECO:0000305"
FT CONFLICT 511
FT /note="K -> E (in Ref. 3; BAC04278)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 592 AA; 65586 MW; 4F1AC21D355E743D CRC64;
MDPNSILLSP QPQICSHLAE ACTEGERSSS PPELDRDSPF PWSQVPSSSP TDPEWFGDEH
IQAKRARVET IVRGMCLSPN PLVPGNAQAG VSPRCPKKAR ERKRKQNLPT PQGLLMPAPA
WDQGNRKGGP RVREQLHLLK QQLRHLQEHI LQAAKPRDTA QGPGGCGTGK GPLSAKQGNG
CGPRPWVVDG DHQQGTSKDL SGAEKHQESE KPSFLPSGAP ASLEILRKEL TRAVSQAVDS
VLQKVLLDPP GHLTQLGRSF QGQVAEGRSE PSPPVGGACK DPLALAALPR RVQLQAGVPV
GNLSLAKRLD SPRYPIPPRM TPKPCQDPPA NFPLTAPSHI QENQILSQLL GHRYNNGHWS
SSPPQDSSSQ RHPSSEPALR PWRTTKPQPL VLSQQQCPLP FTSAHLESLP LLPSVKMEQR
GLHAVMEALP FSLLHIQEGL NPGHLKKAKL MFFFTRYPSS NLLKVYFPDV QFNRCITSQM
IKWFSNFREF YYIQMEKSAR QAISDGVTNP KMLVVLRNSE LFQALNMHYN KGNDFEVPDC
FLEIASLTLQ EFFRAVSAGR DSDPSWKKPI YKIISKLDSD IPEIFKSSSY PQ
