RHF2B_HUMAN
ID RHF2B_HUMAN Reviewed; 288 AA.
AC P0C7M4;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 10-JUN-2008, sequence version 1.
DT 03-AUG-2022, entry version 101.
DE RecName: Full=Rhox homeobox family member 2B;
GN Name=RHOXF2B {ECO:0000312|HGNC:HGNC:33519};
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].
RA Howell G.R., Huckle E., Ross M.T.;
RL Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
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 -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- TISSUE SPECIFICITY: Expressed in testis, mainly expressed in germ
CC cells, but also detected in somatic cells such as Sertoli cells, Leydig
CC cells and peritubular cells. {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; AL590524; CAC36517.1; -; mRNA.
DR EMBL; AC005023; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS43985.1; -.
DR RefSeq; NP_001093155.1; NM_001099685.1.
DR AlphaFoldDB; P0C7M4; -.
DR SMR; P0C7M4; -.
DR STRING; 9606.ENSP00000360455; -.
DR BioMuta; RHOXF2B; -.
DR DMDM; 190360188; -.
DR EPD; P0C7M4; -.
DR MassIVE; P0C7M4; -.
DR MaxQB; P0C7M4; -.
DR PaxDb; P0C7M4; -.
DR PeptideAtlas; P0C7M4; -.
DR PRIDE; P0C7M4; -.
DR Antibodypedia; 68172; 57 antibodies from 12 providers.
DR DNASU; 727940; -.
DR Ensembl; ENST00000371402.5; ENSP00000360455.3; ENSG00000203989.5.
DR GeneID; 727940; -.
DR KEGG; hsa:727940; -.
DR MANE-Select; ENST00000371402.5; ENSP00000360455.3; NM_001099685.3; NP_001093155.1.
DR UCSC; uc004esj.5; human.
DR CTD; 727940; -.
DR GeneCards; RHOXF2B; -.
DR HGNC; HGNC:33519; RHOXF2B.
DR HPA; ENSG00000203989; Tissue enriched (testis).
DR neXtProt; NX_P0C7M4; -.
DR OpenTargets; ENSG00000203989; -.
DR PharmGKB; PA162401289; -.
DR VEuPathDB; HostDB:ENSG00000203989; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000164624; -.
DR HOGENOM; CLU_044595_1_0_1; -.
DR InParanoid; P0C7M4; -.
DR OMA; HNADANT; -.
DR OrthoDB; 1514681at2759; -.
DR PhylomeDB; P0C7M4; -.
DR TreeFam; TF339348; -.
DR PathwayCommons; P0C7M4; -.
DR SignaLink; P0C7M4; -.
DR BioGRID-ORCS; 727940; 23 hits in 641 CRISPR screens.
DR GenomeRNAi; 727940; -.
DR Pharos; P0C7M4; Tdark.
DR PRO; PR:P0C7M4; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P0C7M4; protein.
DR Bgee; ENSG00000203989; Expressed in right testis and 47 other tissues.
DR Genevisible; P0C7M4; 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:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
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 2B"
FT /id="PRO_0000339371"
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:rs781837897)"
FT /evidence="ECO:0000269|PubMed:28171660"
FT /id="VAR_078301"
FT VARIANT 176
FT /note="L -> F (found in infertile men; unknown pathological
FT significance; dbSNP:rs3764830)"
FT /evidence="ECO:0000269|PubMed:28171660"
FT /id="VAR_078302"
FT VARIANT 227
FT /note="G -> R (found in infertile men; unknown pathological
FT significance; decreased induction of target genes
FT expression)"
FT /evidence="ECO:0000269|PubMed:28171660"
FT /id="VAR_078303"
FT VARIANT 235
FT /note="D -> G (found in infertile men; unknown pathological
FT significance; dbSNP:rs782251394)"
FT /evidence="ECO:0000269|PubMed:28171660"
FT /id="VAR_078304"
SQ SEQUENCE 288 AA; 31637 MW; 50B571B13DB712B9 CRC64;
MEPPDQCSQY MTSLLSPAVD DEKELQDMNA MVLSLTEEVK EEEEDAQPEP EQGTAAGEKL
KSAGAQGGEE KDGGGEEKDG GGAGVPGHLW EGNLEGTSGS DGNVEDSDQS EKEPGQQYSR
PQGAVGGLEP GNAQQPNVHA FTPLQLQELE CIFQREQFPS EFLRRRLARS MNVTELAVQI
WFENRRAKWR RHQRALMARN MLPFMAVGQP VMVTAAEAIT APLFISGMRD DYFWDHSHSS
SLCFPMPPFP PPSLPLPLML LPPMPPAGQA EFGPFPFVIV PSFTFPNV
