RHXF2_HUMAN
ID RHXF2_HUMAN Reviewed; 288 AA.
AC Q9BQY4; Q9BR00;
DT 03-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Rhox homeobox family member 2;
DE AltName: Full=Paired-like homeobox protein PEPP-2;
DE AltName: Full=Testis homeobox gene 1;
GN Name=RHOXF2 {ECO:0000312|HGNC:HGNC:30011}; Synonyms=PEPP2, THG1;
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].
RC TISSUE=Testis;
RA Yin Y., Jin Y., Levine A.J.;
RT "Molecular cloning and characterization of a novel testis homeobox gene,
RT THG1, as a potential testicular tumor suppressor gene.";
RL Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [4]
RP TISSUE SPECIFICITY.
RX PubMed=12490318; DOI=10.1016/s0378-1119(02)01087-9;
RA Wayne C.M., MacLean J.A. II, Cornwall G., Wilkinson M.F.;
RT "Two novel human X-linked homeobox genes, hPEPP1 and hPEPP2, selectively
RT expressed in the testis.";
RL Gene 301:1-11(2002).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP VARIANTS ARG-68; PHE-176; ARG-227 AND GLY-235, CHARACTERIZATION OF VARIANTS
RP ARG-68 AND ARG-227, FUNCTION, CAUTION, AND TISSUE SPECIFICITY.
RX PubMed=28171660; DOI=10.1093/hmg/ddw313;
RA Borgmann J., Tuettelmann F., Dworniczak B., Roepke A., Song H.W.,
RA Kliesch S., Wilkinson M.F., Laurentino S., Gromoll J.;
RT "The human RHOX gene cluster: target genes and functional analysis of gene
RT variants in infertile men.";
RL Hum. Mol. Genet. 25:4898-4910(2016).
CC -!- FUNCTION: Transcription factor maybe involved in reproductive
CC processes. Modulates expression of target genes encoding proteins
CC involved in processes relevant to spermatogenesis.
CC {ECO:0000269|PubMed:28171660}.
CC -!- INTERACTION:
CC Q9BQY4; P15289: ARSA; NbExp=3; IntAct=EBI-372094, EBI-2117357;
CC Q9BQY4; P54253: ATXN1; NbExp=4; IntAct=EBI-372094, EBI-930964;
CC Q9BQY4; Q9NR55: BATF3; NbExp=3; IntAct=EBI-372094, EBI-10312707;
CC Q9BQY4; Q8N9W6-4: BOLL; NbExp=3; IntAct=EBI-372094, EBI-11983447;
CC Q9BQY4; Q6P1W5: C1orf94; NbExp=3; IntAct=EBI-372094, EBI-946029;
CC Q9BQY4; Q9UQM7: CAMK2A; NbExp=3; IntAct=EBI-372094, EBI-1383687;
CC Q9BQY4; P40199: CEACAM6; NbExp=3; IntAct=EBI-372094, EBI-4314501;
CC Q9BQY4; Q5T4B2: CERCAM; NbExp=3; IntAct=EBI-372094, EBI-12261896;
CC Q9BQY4; Q9BUX1: CHAC1; NbExp=2; IntAct=EBI-372094, EBI-751127;
CC Q9BQY4; Q03060-25: CREM; NbExp=3; IntAct=EBI-372094, EBI-12884642;
CC Q9BQY4; O43186: CRX; NbExp=3; IntAct=EBI-372094, EBI-748171;
CC Q9BQY4; P05813: CRYBA1; NbExp=3; IntAct=EBI-372094, EBI-7043337;
CC Q9BQY4; O75553: DAB1; NbExp=3; IntAct=EBI-372094, EBI-7875264;
CC Q9BQY4; Q15038: DAZAP2; NbExp=12; IntAct=EBI-372094, EBI-724310;
CC Q9BQY4; O95967: EFEMP2; NbExp=2; IntAct=EBI-372094, EBI-743414;
CC Q9BQY4; Q6J272: FAM166A; NbExp=3; IntAct=EBI-372094, EBI-12811067;
CC Q9BQY4; Q92567-2: FAM168A; NbExp=6; IntAct=EBI-372094, EBI-11978259;
CC Q9BQY4; A1KXE4-2: FAM168B; NbExp=3; IntAct=EBI-372094, EBI-12193763;
CC Q9BQY4; A0A024R5S0: hCG_2003792; NbExp=3; IntAct=EBI-372094, EBI-10188461;
CC Q9BQY4; Q8WVV9: HNRNPLL; NbExp=3; IntAct=EBI-372094, EBI-535849;
CC Q9BQY4; Q7Z7F0-4: KHDC4; NbExp=3; IntAct=EBI-372094, EBI-9089060;
CC Q9BQY4; Q96G42: KLHDC7B; NbExp=3; IntAct=EBI-372094, EBI-9478422;
CC Q9BQY4; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-372094, EBI-10176379;
CC Q9BQY4; Q52LG2: KRTAP13-2; NbExp=3; IntAct=EBI-372094, EBI-11953846;
CC Q9BQY4; Q3LI77: KRTAP13-4; NbExp=3; IntAct=EBI-372094, EBI-11953996;
CC Q9BQY4; Q3LI76: KRTAP15-1; NbExp=3; IntAct=EBI-372094, EBI-11992140;
CC Q9BQY4; Q3LI72: KRTAP19-5; NbExp=6; IntAct=EBI-372094, EBI-1048945;
CC Q9BQY4; Q3LI70: KRTAP19-6; NbExp=3; IntAct=EBI-372094, EBI-12805508;
CC Q9BQY4; Q3SYF9: KRTAP19-7; NbExp=6; IntAct=EBI-372094, EBI-10241353;
CC Q9BQY4; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-372094, EBI-3957672;
CC Q9BQY4; Q3LI64: KRTAP6-1; NbExp=5; IntAct=EBI-372094, EBI-12111050;
CC Q9BQY4; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-372094, EBI-11962084;
CC Q9BQY4; Q8IUC3: KRTAP7-1; NbExp=3; IntAct=EBI-372094, EBI-18394498;
CC Q9BQY4; Q14847: LASP1; NbExp=3; IntAct=EBI-372094, EBI-742828;
CC Q9BQY4; Q14847-2: LASP1; NbExp=3; IntAct=EBI-372094, EBI-9088686;
CC Q9BQY4; Q9Y5V3: MAGED1; NbExp=6; IntAct=EBI-372094, EBI-716006;
CC Q9BQY4; Q99750: MDFI; NbExp=3; IntAct=EBI-372094, EBI-724076;
CC Q9BQY4; P35548: MSX2; NbExp=3; IntAct=EBI-372094, EBI-6447480;
CC Q9BQY4; Q99801: NKX3-1; NbExp=3; IntAct=EBI-372094, EBI-1385894;
CC Q9BQY4; O60568: PLOD3; NbExp=2; IntAct=EBI-372094, EBI-741582;
CC Q9BQY4; P86480: PRR20D; NbExp=3; IntAct=EBI-372094, EBI-12754095;
CC Q9BQY4; Q9NV39: PRR34; NbExp=3; IntAct=EBI-372094, EBI-11959565;
CC Q9BQY4; O43251: RBFOX2; NbExp=3; IntAct=EBI-372094, EBI-746056;
CC Q9BQY4; O43251-10: RBFOX2; NbExp=3; IntAct=EBI-372094, EBI-11963050;
CC Q9BQY4; Q93062: RBPMS; NbExp=6; IntAct=EBI-372094, EBI-740322;
CC Q9BQY4; Q93062-3: RBPMS; NbExp=3; IntAct=EBI-372094, EBI-740343;
CC Q9BQY4; Q6ZRY4: RBPMS2; NbExp=3; IntAct=EBI-372094, EBI-11987469;
CC Q9BQY4; Q9BQY4: RHOXF2; NbExp=3; IntAct=EBI-372094, EBI-372094;
CC Q9BQY4; P78317: RNF4; NbExp=3; IntAct=EBI-372094, EBI-2340927;
CC Q9BQY4; P63165: SUMO1; NbExp=3; IntAct=EBI-372094, EBI-80140;
CC Q9BQY4; Q96A09: TENT5B; NbExp=4; IntAct=EBI-372094, EBI-752030;
CC Q9BQY4; Q5VWP2: TENT5C; NbExp=3; IntAct=EBI-372094, EBI-741787;
CC Q9BQY4; Q99973: TEP1; NbExp=3; IntAct=EBI-372094, EBI-947859;
CC Q9BQY4; Q08117: TLE5; NbExp=3; IntAct=EBI-372094, EBI-717810;
CC Q9BQY4; Q9H0E2: TOLLIP; NbExp=6; IntAct=EBI-372094, EBI-74615;
CC Q9BQY4; Q15645: TRIP13; NbExp=8; IntAct=EBI-372094, EBI-358993;
CC Q9BQY4; Q5T6F2: UBAP2; NbExp=3; IntAct=EBI-372094, EBI-2514383;
CC Q9BQY4; Q08AM6: VAC14; NbExp=6; IntAct=EBI-372094, EBI-2107455;
CC Q9BQY4; O95231: VENTX; NbExp=3; IntAct=EBI-372094, EBI-10191303;
CC Q9BQY4; A0A0C4DGF1: ZBTB32; NbExp=11; IntAct=EBI-372094, EBI-10188476;
CC Q9BQY4; Q9Y2Y4: ZBTB32; NbExp=3; IntAct=EBI-372094, EBI-954098;
CC Q9BQY4; Q8IZ20: ZNF683; NbExp=3; IntAct=EBI-372094, EBI-12005952;
CC Q9BQY4; Q96EJ4; NbExp=3; IntAct=EBI-372094, EBI-750454;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- TISSUE SPECIFICITY: Testis. Not detected in epididymis nor placenta. In
CC testis, mainly expressed in germ cells, but also detected in somatic
CC cells such as Sertoli cells, Leydig cells and peritubular cells
CC (PubMed:28171660). {ECO:0000269|PubMed:12490318,
CC ECO:0000269|PubMed:28171660}.
CC -!- DEVELOPMENTAL STAGE: Predominantly expressed in early stage germ cells,
CC type-B spermatogonia and early spermatocytes.
CC {ECO:0000269|PubMed:28171660}.
CC -!- SIMILARITY: Belongs to the paired-like homeobox family. PEPP subfamily.
CC {ECO:0000305}.
CC -!- CAUTION: RHOF2 and RHOF2B are arranged in a head-to-head orientation
CC and share high sequence similarity (>99%). They cannot easily be
CC distinguished and are usually analyzed as a single gene.
CC {ECO:0000305|PubMed:28171660}.
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DR EMBL; AF317219; AAL02160.1; -; mRNA.
DR EMBL; AL590526; CAC36519.1; -; mRNA.
DR EMBL; AK058125; BAB71675.1; -; mRNA.
DR EMBL; BC021719; AAH21719.1; -; mRNA.
DR CCDS; CCDS14594.1; -.
DR RefSeq; NP_115887.1; NM_032498.2.
DR AlphaFoldDB; Q9BQY4; -.
DR SMR; Q9BQY4; -.
DR BioGRID; 124119; 107.
DR IntAct; Q9BQY4; 93.
DR STRING; 9606.ENSP00000360441; -.
DR iPTMnet; Q9BQY4; -.
DR PhosphoSitePlus; Q9BQY4; -.
DR BioMuta; RHOXF2; -.
DR DMDM; 37537987; -.
DR EPD; Q9BQY4; -.
DR MassIVE; Q9BQY4; -.
DR MaxQB; Q9BQY4; -.
DR PaxDb; Q9BQY4; -.
DR PeptideAtlas; Q9BQY4; -.
DR PRIDE; Q9BQY4; -.
DR ProteomicsDB; 78727; -.
DR Antibodypedia; 520; 170 antibodies from 26 providers.
DR DNASU; 84528; -.
DR Ensembl; ENST00000371388.5; ENSP00000360441.3; ENSG00000131721.6.
DR GeneID; 84528; -.
DR KEGG; hsa:84528; -.
DR MANE-Select; ENST00000371388.5; ENSP00000360441.3; NM_032498.3; NP_115887.1.
DR UCSC; uc004esl.4; human.
DR CTD; 84528; -.
DR DisGeNET; 84528; -.
DR GeneCards; RHOXF2; -.
DR HGNC; HGNC:30011; RHOXF2.
DR HPA; ENSG00000131721; Tissue enriched (testis).
DR MIM; 300447; gene.
DR neXtProt; NX_Q9BQY4; -.
DR OpenTargets; ENSG00000131721; -.
DR PharmGKB; PA162401288; -.
DR VEuPathDB; HostDB:ENSG00000131721; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000164624; -.
DR HOGENOM; CLU_044595_1_0_1; -.
DR InParanoid; Q9BQY4; -.
DR OMA; LCFSMSP; -.
DR OrthoDB; 1514681at2759; -.
DR PhylomeDB; Q9BQY4; -.
DR TreeFam; TF339348; -.
DR PathwayCommons; Q9BQY4; -.
DR SignaLink; Q9BQY4; -.
DR BioGRID-ORCS; 84528; 14 hits in 594 CRISPR screens.
DR GenomeRNAi; 84528; -.
DR Pharos; Q9BQY4; Tbio.
DR PRO; PR:Q9BQY4; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9BQY4; protein.
DR Bgee; ENSG00000131721; Expressed in testis and 21 other tissues.
DR Genevisible; Q9BQY4; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0000977; F:RNA polymerase II transcription 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:0010628; P:positive regulation of gene expression; IMP:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
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 DNA-binding; Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..288
FT /note="Rhox homeobox family member 2"
FT /id="PRO_0000049246"
FT DNA_BIND 134..193
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 16..136
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 186..195
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000250"
FT COMPBIAS 64..78
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 68
FT /note="G -> R (found in infertile men; unknown pathological
FT significance; decreased induction of target genes
FT expression; dbSNP:rs148604152)"
FT /evidence="ECO:0000269|PubMed:28171660"
FT /id="VAR_078297"
FT VARIANT 176
FT /note="L -> F (found in infertile men; unknown pathological
FT significance; dbSNP:rs199871532)"
FT /evidence="ECO:0000269|PubMed:28171660"
FT /id="VAR_078298"
FT VARIANT 227
FT /note="G -> R (found in infertile men; unknown pathological
FT significance; decreased induction of target genes
FT expression; dbSNP:rs1210761967)"
FT /evidence="ECO:0000269|PubMed:28171660"
FT /id="VAR_078299"
FT VARIANT 235
FT /note="D -> G (found in infertile men; unknown pathological
FT significance; dbSNP:rs6646602)"
FT /evidence="ECO:0000269|PubMed:28171660"
FT /id="VAR_078300"
SQ SEQUENCE 288 AA; 31692 MW; 2B0E007064515808 CRC64;
MEPPDQCSQY MTSLLSPAVD DEKELQDMNA MVLSLTEEVK EEEEDAQPEP EQGTAAGEKL
KSAGAQGGEE KDGGGEEKDG GGAGVPGHLW EGDLEGTSGS DGNVEDSDQS EKEPGQQYSR
PQGAVGGLEP GNAQQPNVHA FTPLQLQELE RIFQREQFPS EFLRRRLARS MNVTELAVQI
WFENRRAKWR RHQRALMARN MLPFMAVGQP VMVTAAEAIT APLFISGMRD DYFWDHSHSS
SLCFPMPPFP PPSLPLPLML LPPMPPAGQA EFGPFPFVIV PSFTFPNV
