UniProtKB - P48378 (RFX2_HUMAN)
Protein
DNA-binding protein RFX2
Gene
RFX2
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (By similarity). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters (PubMed:10330134). Probably activates transcription of the testis-specific histone gene H1-6 (By similarity).By similarity1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 199 – 274 | RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST | 76 |
GO - Molecular functioni
- DNA binding Source: ProtInc
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: UniProtKB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- acrosome assembly Source: UniProtKB
- cilium assembly Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: UniProtKB
- spermatid development Source: UniProtKB
Keywordsi
Molecular function | DNA-binding |
Biological process | Cilium biogenesis/degradation, Differentiation, Spermatogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P48378 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA-binding protein RFX2Alternative name(s): Regulatory factor X 2 |
Gene namesi | Name:RFX2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9983, RFX2 |
MIMi | 142765, gene |
neXtProti | NX_P48378 |
VEuPathDBi | HostDB:ENSG00000087903.12 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 5990 |
OpenTargetsi | ENSG00000087903 |
PharmGKBi | PA34353 |
Miscellaneous databases
Pharosi | P48378, Tbio |
Genetic variation databases
BioMutai | RFX2 |
DMDMi | 254763325 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000215288 | 1 – 723 | DNA-binding protein RFX2Add BLAST | 723 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 28 | PhosphoserineCombined sources | 1 | |
Modified residuei | 416 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | P48378 |
MassIVEi | P48378 |
MaxQBi | P48378 |
PaxDbi | P48378 |
PeptideAtlasi | P48378 |
PRIDEi | P48378 |
ProteomicsDBi | 55881 [P48378-1] 55882 [P48378-2] |
PTM databases
iPTMneti | P48378 |
PhosphoSitePlusi | P48378 |
Expressioni
Gene expression databases
Bgeei | ENSG00000087903, Expressed in testis and 211 other tissues |
ExpressionAtlasi | P48378, baseline and differential |
Genevisiblei | P48378, HS |
Organism-specific databases
HPAi | ENSG00000087903, Tissue enhanced (testis) |
Interactioni
Subunit structurei
Homodimer; probably only forms homodimers in testis (By similarity). Heterodimer; heterodimerizes with RFX1 and RFX3 (PubMed:10330134).
By similarity1 PublicationBinary interactionsi
Hide detailsP48378
Protein-protein interaction databases
BioGRIDi | 111922, 14 interactors |
IntActi | P48378, 12 interactors |
MINTi | P48378 |
STRINGi | 9606.ENSP00000306335 |
Miscellaneous databases
RNActi | P48378, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the RFX family.PROSITE-ProRule annotation
Phylogenomic databases
eggNOGi | KOG3712, Eukaryota |
GeneTreei | ENSGT00980000198514 |
HOGENOMi | CLU_010393_1_1_1 |
InParanoidi | P48378 |
OMAi | LQFHYVE |
OrthoDBi | 346630at2759 |
PhylomeDBi | P48378 |
TreeFami | TF321340 |
Family and domain databases
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR003150, DNA-bd_RFX IPR039779, RFX-like IPR007668, RFX1_trans_act IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12619, PTHR12619, 1 hit |
Pfami | View protein in Pfam PF04589, RFX1_trans_act, 1 hit PF02257, RFX_DNA_binding, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS51526, RFX_DBD, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P48378-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQNSEGGADS PASVALRPSA AAPPVPASPQ RVLVQAASSN PKGAQMQPIS
60 70 80 90 100
LPRVQQVPQQ VQPVQHVYPA QVQYVEGGDA VYTNGAIRTA YTYNPEPQMY
110 120 130 140 150
APSSTASYFE APGGAQVTVA ASSPPAVPSH SMVGITMDVG GSPIVSSAGA
160 170 180 190 200
YLIHGGMDST RHSLAHTSRS SPATLEMAIE NLQKSEGITS HKSGLLNSHL
210 220 230 240 250
QWLLDNYETA EGVSLPRSSL YNHYLRHCQE HKLDPVNAAS FGKLIRSVFM
260 270 280 290 300
GLRTRRLGTR GNSKYHYYGI RLKPDSPLNR LQEDTQYMAM RQQPMHQKPR
310 320 330 340 350
YRPAQKTDSL GDSGSHSGLH STPEQTMAVQ SQHHQQYIDV SHVFPEFPAP
360 370 380 390 400
DLGSFLLQDG VTLHDVKALQ LVYRRHCEAT VDVVMNLQFH YIEKLWLSFW
410 420 430 440 450
NSKASSSDGP TSLPASDEDP EGAVLPKDKL ISLCQCDPIL RWMRSCDHIL
460 470 480 490 500
YQALVEILIP DVLRPVPSTL TQAIRNFAKS LEGWLTNAMS DFPQQVIQTK
510 520 530 540 550
VGVVSAFAQT LRRYTSLNHL AQAARAVLQN TSQINQMLSD LNRVDFANVQ
560 570 580 590 600
EQASWVCQCE ESVVQRLEQD FKLTLQQQSS LDQWASWLDS VVTQVLKQHA
610 620 630 640 650
GSPSFPKAAR QFLLKWSFYS SMVIRDLTLR SAASFGSFHL IRLLYDEYMF
660 670 680 690 700
YLVEHRVAEA TGETPIAVMG EFNDLASLSL TLLDKDDMGD EQRGSEAGPD
710 720
ARSLGEPLVK RERSDPNHSL QGI
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EIN5 | K7EIN5_HUMAN | DNA-binding protein RFX2 | RFX2 | 142 | Annotation score: | ||
K7ES56 | K7ES56_HUMAN | DNA-binding protein RFX2 | RFX2 | 105 | Annotation score: | ||
K7EQA0 | K7EQA0_HUMAN | DNA-binding protein RFX2 | RFX2 | 147 | Annotation score: | ||
K7EJE4 | K7EJE4_HUMAN | DNA-binding protein RFX2 | RFX2 | 99 | Annotation score: | ||
K7EQU2 | K7EQU2_HUMAN | DNA-binding protein RFX2 | RFX2 | 169 | Annotation score: | ||
K7ELQ7 | K7ELQ7_HUMAN | DNA-binding protein RFX2 | RFX2 | 98 | Annotation score: | ||
K7ENC9 | K7ENC9_HUMAN | DNA-binding protein RFX2 | RFX2 | 93 | Annotation score: | ||
K7EQY9 | K7EQY9_HUMAN | DNA-binding protein RFX2 | RFX2 | 110 | Annotation score: | ||
K7EJD4 | K7EJD4_HUMAN | DNA-binding protein RFX2 | RFX2 | 33 | Annotation score: | ||
K7ELD5 | K7ELD5_HUMAN | DNA-binding protein RFX2 | RFX2 | 180 | Annotation score: |
Sequence cautioni
The sequence BAG51286 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 44 | A → S in CAA53705 (PubMed:8289803).Curated | 1 | |
Sequence conflicti | 170 | S → P in BAF83885 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 216 | P → H in AAH71571 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036530 | 37 | A → G in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_057151 | 86 | A → T2 PublicationsCorresponds to variant dbSNP:rs2288846Ensembl. | 1 | |
Natural variantiVAR_036531 | 110 | E → K in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs748493309Ensembl. | 1 | |
Natural variantiVAR_058416 | 610 | R → Q1 PublicationCorresponds to variant dbSNP:rs17852566Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_037811 | 175 – 199 | Missing in isoform 2. 1 PublicationAdd BLAST | 25 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X76091 mRNA Translation: CAA53705.1 AK024288 mRNA Translation: BAG51286.1 Different initiation. AK291196 mRNA Translation: BAF83885.1 AC011444 Genomic DNA No translation available. BC028579 mRNA Translation: AAH28579.1 BC071571 mRNA Translation: AAH71571.1 |
CCDSi | CCDS12157.1 [P48378-1] CCDS12158.1 [P48378-2] |
PIRi | B55926 |
RefSeqi | NP_000626.2, NM_000635.3 [P48378-1] NP_602309.1, NM_134433.2 [P48378-2] XP_011526473.1, XM_011528171.2 |
Genome annotation databases
Ensembli | ENST00000303657; ENSP00000306335; ENSG00000087903 [P48378-1] ENST00000359161; ENSP00000352076; ENSG00000087903 [P48378-1] ENST00000592546; ENSP00000467166; ENSG00000087903 [P48378-2] |
GeneIDi | 5990 |
KEGGi | hsa:5990 |
UCSCi | uc002meb.4, human [P48378-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X76091 mRNA Translation: CAA53705.1 AK024288 mRNA Translation: BAG51286.1 Different initiation. AK291196 mRNA Translation: BAF83885.1 AC011444 Genomic DNA No translation available. BC028579 mRNA Translation: AAH28579.1 BC071571 mRNA Translation: AAH71571.1 |
CCDSi | CCDS12157.1 [P48378-1] CCDS12158.1 [P48378-2] |
PIRi | B55926 |
RefSeqi | NP_000626.2, NM_000635.3 [P48378-1] NP_602309.1, NM_134433.2 [P48378-2] XP_011526473.1, XM_011528171.2 |
3D structure databases
SMRi | P48378 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111922, 14 interactors |
IntActi | P48378, 12 interactors |
MINTi | P48378 |
STRINGi | 9606.ENSP00000306335 |
PTM databases
iPTMneti | P48378 |
PhosphoSitePlusi | P48378 |
Genetic variation databases
BioMutai | RFX2 |
DMDMi | 254763325 |
Proteomic databases
jPOSTi | P48378 |
MassIVEi | P48378 |
MaxQBi | P48378 |
PaxDbi | P48378 |
PeptideAtlasi | P48378 |
PRIDEi | P48378 |
ProteomicsDBi | 55881 [P48378-1] 55882 [P48378-2] |
Protocols and materials databases
Antibodypediai | 24073, 148 antibodies |
DNASUi | 5990 |
Genome annotation databases
Ensembli | ENST00000303657; ENSP00000306335; ENSG00000087903 [P48378-1] ENST00000359161; ENSP00000352076; ENSG00000087903 [P48378-1] ENST00000592546; ENSP00000467166; ENSG00000087903 [P48378-2] |
GeneIDi | 5990 |
KEGGi | hsa:5990 |
UCSCi | uc002meb.4, human [P48378-1] |
Organism-specific databases
CTDi | 5990 |
DisGeNETi | 5990 |
GeneCardsi | RFX2 |
HGNCi | HGNC:9983, RFX2 |
HPAi | ENSG00000087903, Tissue enhanced (testis) |
MIMi | 142765, gene |
neXtProti | NX_P48378 |
OpenTargetsi | ENSG00000087903 |
PharmGKBi | PA34353 |
VEuPathDBi | HostDB:ENSG00000087903.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3712, Eukaryota |
GeneTreei | ENSGT00980000198514 |
HOGENOMi | CLU_010393_1_1_1 |
InParanoidi | P48378 |
OMAi | LQFHYVE |
OrthoDBi | 346630at2759 |
PhylomeDBi | P48378 |
TreeFami | TF321340 |
Enzyme and pathway databases
PathwayCommonsi | P48378 |
Miscellaneous databases
BioGRID-ORCSi | 5990, 6 hits in 1017 CRISPR screens |
ChiTaRSi | RFX2, human |
GeneWikii | RFX2 |
GenomeRNAii | 5990 |
Pharosi | P48378, Tbio |
PROi | PR:P48378 |
RNActi | P48378, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000087903, Expressed in testis and 211 other tissues |
ExpressionAtlasi | P48378, baseline and differential |
Genevisiblei | P48378, HS |
Family and domain databases
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR003150, DNA-bd_RFX IPR039779, RFX-like IPR007668, RFX1_trans_act IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12619, PTHR12619, 1 hit |
Pfami | View protein in Pfam PF04589, RFX1_trans_act, 1 hit PF02257, RFX_DNA_binding, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS51526, RFX_DBD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RFX2_HUMAN | |
Accessioni | P48378Primary (citable) accession number: P48378 Secondary accession number(s): A8K581 Q8SNA2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | July 28, 2009 | |
Last modified: | April 7, 2021 | |
This is version 168 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families