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P48378 · RFX2_HUMAN

  • Protein
    DNA-binding protein RFX2
  • Gene
    RFX2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

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).

Features

Showing features for dna binding.

1723100200300400500600700
TypeIDPosition(s)Description
DNA binding199-274RFX-type winged-helix

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentchromatin
Cellular Componentcytoplasm
Cellular Componentnucleus
Molecular FunctionDNA binding
Molecular FunctionDNA-binding transcription activator activity, RNA polymerase II-specific
Molecular FunctionDNA-binding transcription factor activity
Molecular FunctionDNA-binding transcription factor activity, RNA polymerase II-specific
Molecular FunctionRNA polymerase II cis-regulatory region sequence-specific DNA binding
Molecular Functionsequence-specific double-stranded DNA binding
Biological Processacrosome assembly
Biological Processcellular response to leukemia inhibitory factor
Biological Processcilium assembly
Biological Processregulation of transcription by RNA polymerase II
Biological Processspermatid development

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    DNA-binding protein RFX2
  • Alternative names
    • Regulatory factor X 2

Gene names

    • Name
      RFX2

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    P48378
  • Secondary accessions
    • A8K581
    • B3KNC4
    • Q6IQ44
    • Q8SNA2

Proteomes

Organism-specific databases

Subcellular Location

Nucleus
Cytoplasm
Note: Mainly expressed in the nucleus and at lower level in cytoplasm.

Keywords

Disease & Variants

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_03653037in a breast cancer sample; somatic mutation
Natural variantVAR_05715186in dbSNP:rs2288846
Natural variantVAR_036531110in a breast cancer sample; somatic mutation; dbSNP:rs748493309
Natural variantVAR_058416610in dbSNP:rs17852566

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 817 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue (large scale data), modified residue.

Type
IDPosition(s)Source
Description
ChainPRO_00002152881-723UniProtDNA-binding protein RFX2
Modified residue (large scale data)10PRIDEPhosphoserine
Modified residue28UniProtPhosphoserine
Modified residue (large scale data)28PRIDEPhosphoserine
Modified residue416UniProtPhosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Gene expression databases

Organism-specific databases

Interaction

Subunit

Homodimer; probably only forms homodimers in testis (By similarity).
Heterodimer; heterodimerizes with RFX1 and RFX3 (PubMed:10330134).

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntAct
BINARY P48378EYA2 O00167-23EBI-746731, EBI-12807776
BINARY P48378FOXJ1 Q929497EBI-746731, EBI-1760377
BINARY P48378FOXN4 Q96NZ13EBI-746731, EBI-11749712
BINARY P48378NFKBID Q8NI383EBI-746731, EBI-10271199
BINARY P48378PIAS2 O75928-23EBI-746731, EBI-348567
BINARY P48378RFX6 Q8HWS34EBI-746731, EBI-746118

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for region, compositional bias.

Type
IDPosition(s)Description
Region1-46Disordered
Compositional bias32-46Polar residues
Region292-332Disordered
Compositional bias308-332Polar residues
Region688-723Disordered

Sequence similarities

Belongs to the RFX family.

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

P48378-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    723
  • Mass (Da)
    79,987
  • Last updated
    2009-07-28 v2
  • MD5 Checksum
    81EE4C7715127561DF92C6E7DC5D8317
MQNSEGGADSPASVALRPSAAAPPVPASPQRVLVQAASSNPKGAQMQPISLPRVQQVPQQVQPVQHVYPAQVQYVEGGDAVYTNGAIRTAYTYNPEPQMYAPSSTASYFEAPGGAQVTVAASSPPAVPSHSMVGITMDVGGSPIVSSAGAYLIHGGMDSTRHSLAHTSRSSPATLEMAIENLQKSEGITSHKSGLLNSHLQWLLDNYETAEGVSLPRSSLYNHYLRHCQEHKLDPVNAASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGIRLKPDSPLNRLQEDTQYMAMRQQPMHQKPRYRPAQKTDSLGDSGSHSGLHSTPEQTMAVQSQHHQQYIDVSHVFPEFPAPDLGSFLLQDGVTLHDVKALQLVYRRHCEATVDVVMNLQFHYIEKLWLSFWNSKASSSDGPTSLPASDEDPEGAVLPKDKLISLCQCDPILRWMRSCDHILYQALVEILIPDVLRPVPSTLTQAIRNFAKSLEGWLTNAMSDFPQQVIQTKVGVVSAFAQTLRRYTSLNHLAQAARAVLQNTSQINQMLSDLNRVDFANVQEQASWVCQCEESVVQRLEQDFKLTLQQQSSLDQWASWLDSVVTQVLKQHAGSPSFPKAARQFLLKWSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMFYLVEHRVAEATGETPIAVMGEFNDLASLSLTLLDKDDMGDEQRGSEAGPDARSLGEPLVKRERSDPNHSLQGI

P48378-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 10 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
K7EJD4K7EJD4_HUMANRFX233
K7EJE4K7EJE4_HUMANRFX299
K7EIN5K7EIN5_HUMANRFX2142
K7ELD5K7ELD5_HUMANRFX2180
K7ELQ7K7ELQ7_HUMANRFX298
K7ENC9K7ENC9_HUMANRFX293
K7EQU2K7EQU2_HUMANRFX2169
K7EQY9K7EQY9_HUMANRFX2110
K7EQA0K7EQA0_HUMANRFX2147
K7ES56K7ES56_HUMANRFX2105

Sequence caution

The sequence BAG51286.1 differs from that shown. Reason: Erroneous initiation

Features

Showing features for compositional bias, sequence conflict, alternative sequence.

Type
IDPosition(s)Description
Compositional bias32-46Polar residues
Sequence conflict44in Ref. 1; CAA53705
Sequence conflict170in Ref. 2; BAF83885
Alternative sequenceVSP_037811175-199in isoform 2
Sequence conflict216in Ref. 4; AAH71571
Compositional bias308-332Polar residues

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
X76091
EMBL· GenBank· DDBJ
CAA53705.1
EMBL· GenBank· DDBJ
mRNA
AK024288
EMBL· GenBank· DDBJ
BAG51286.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AK291196
EMBL· GenBank· DDBJ
BAF83885.1
EMBL· GenBank· DDBJ
mRNA
AC011444
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
BC028579
EMBL· GenBank· DDBJ
AAH28579.1
EMBL· GenBank· DDBJ
mRNA
BC071571
EMBL· GenBank· DDBJ
AAH71571.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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