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Protein

Rhox homeobox family member 2

Gene

RHOXF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi134 – 193HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

  • positive regulation of gene expression Source: UniProtKB
  • regulation of transcription, DNA-templated Source: InterPro

Keywordsi

Molecular functionDNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Rhox homeobox family member 2
Alternative name(s):
Paired-like homeobox protein PEPP-2
Testis homeobox gene 1
Gene namesi
Name:RHOXF2Imported
Synonyms:PEPP2, THG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:30011. RHOXF2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi84528.
OpenTargetsiENSG00000131721.
PharmGKBiPA162401288.

Polymorphism and mutation databases

BioMutaiRHOXF2.
DMDMi37537987.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492461 – 288Rhox homeobox family member 2Add BLAST288

Proteomic databases

EPDiQ9BQY4.
MaxQBiQ9BQY4.
PaxDbiQ9BQY4.
PeptideAtlasiQ9BQY4.
PRIDEiQ9BQY4.

PTM databases

iPTMnetiQ9BQY4.
PhosphoSitePlusiQ9BQY4.

Expressioni

Tissue specificityi

Testis. Not detected in epididymis nor placenta. In testis, mainly expressed in germ cells, but also detected in somatic cells such as Sertoli cells, Leydig cells and peritubular cells (PubMed:28171660).2 Publications

Developmental stagei

Predominantly expressed in early stage germ cells, type-B spermatogonia and early spermatocytes.1 Publication

Gene expression databases

BgeeiENSG00000131721.
CleanExiHS_RHOXF2.
GenevisibleiQ9BQY4. HS.

Organism-specific databases

HPAiCAB020794.
HPA003314.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124119. 60 interactors.
IntActiQ9BQY4. 79 interactors.
MINTiMINT-1435872.
STRINGi9606.ENSP00000360441.

Structurei

3D structure databases

ProteinModelPortaliQ9BQY4.
SMRiQ9BQY4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi186 – 195Nuclear localization signalBy similarity10

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi245 – 286Pro-richAdd BLAST42

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00820000127081.
HOGENOMiHOG000154119.
HOVERGENiHBG094802.
InParanoidiQ9BQY4.
OMAiMRDGYFW.
OrthoDBiEOG091G0JEY.
PhylomeDBiQ9BQY4.
TreeFamiTF339348.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9BQY4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEPPDQCSQY MTSLLSPAVD DEKELQDMNA MVLSLTEEVK EEEEDAQPEP
60 70 80 90 100
EQGTAAGEKL KSAGAQGGEE KDGGGEEKDG GGAGVPGHLW EGDLEGTSGS
110 120 130 140 150
DGNVEDSDQS EKEPGQQYSR PQGAVGGLEP GNAQQPNVHA FTPLQLQELE
160 170 180 190 200
RIFQREQFPS EFLRRRLARS MNVTELAVQI WFENRRAKWR RHQRALMARN
210 220 230 240 250
MLPFMAVGQP VMVTAAEAIT APLFISGMRD DYFWDHSHSS SLCFPMPPFP
260 270 280
PPSLPLPLML LPPMPPAGQA EFGPFPFVIV PSFTFPNV
Length:288
Mass (Da):31,692
Last modified:June 1, 2001 - v1
Checksum:i2B0E007064515808
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07829768G → R Found in infertile men; unknown pathological significance; decreased induction of target genes expression. 1 PublicationCorresponds to variant dbSNP:rs148604152Ensembl.1
Natural variantiVAR_078298176L → F Found in infertile men; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199871532Ensembl.1
Natural variantiVAR_078299227G → R Found in infertile men; unknown pathological significance; decreased induction of target genes expression. 1 Publication1
Natural variantiVAR_078300235D → G Found in infertile men; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs6646602Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF317219 mRNA. Translation: AAL02160.1.
AL590526 mRNA. Translation: CAC36519.1.
AK058125 mRNA. Translation: BAB71675.1.
BC021719 mRNA. Translation: AAH21719.1.
CCDSiCCDS14594.1.
RefSeqiNP_115887.1. NM_032498.2.
UniGeneiHs.567620.

Genome annotation databases

EnsembliENST00000371388; ENSP00000360441; ENSG00000131721.
GeneIDi84528.
KEGGihsa:84528.
UCSCiuc004esl.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRHXF2_HUMAN
AccessioniPrimary (citable) accession number: Q9BQY4
Secondary accession number(s): Q9BR00
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: June 1, 2001
Last modified: August 30, 2017
This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

RHOF2 and RHOF2B are arranged in a head-to-head orientation and share high sequence similarity (>99%). They cannot easily be distinguished and are usually analyzed as a single gene.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families