Human Gene RDX (ENST00000645495.2_7) from GENCODE V47lift37
  Description: radixin, transcript variant 3 (from RefSeq NM_002906.4)
Gencode Transcript: ENST00000645495.2_7
Gencode Gene: ENSG00000137710.17_14
Transcript (Including UTRs)
   Position: hg19 chr11:110,100,166-110,167,339 Size: 67,174 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr11:110,102,594-110,150,417 Size: 47,824 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:110,100,166-110,167,339)mRNA (may differ from genome)Protein (583 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RADI_HUMAN
DESCRIPTION: RecName: Full=Radixin;
FUNCTION: Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane.
ENZYME REGULATION: A head-to-tail association, of the N-terminal and C-terminal halves results in a closed conformation (inactive form) which is incapable of actin or membrane-binding (By similarity).
SUBUNIT: Binds SLC9A3R1. Interacts with NHERF1, NHERF2, LAYN, MME/NEP and ICAM2 (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cleavage furrow. Note=Highly concentrated in the undercoat of the cell-to-cell adherens junction and the cleavage furrow in the interphase and mitotic phase, respectively.
DOMAIN: The N-terminal domain interacts with the C-terminal domain of LAYN. An interdomain interaction between its N-terminal and C- terminal domains inhibits its ablilty to bind LAYN. In the presence of acidic phospholipids, the interdomain interaction is inhibited and this enhances binding to LAYN (By similarity).
PTM: Phosphorylated by tyrosine-protein kinases. Phosphorylation by ROCK2 suppresses the head-to-tail association of the N-terminal and C-terminal halves resulting in an opened conformation which is capable of actin and membrane-binding (By similarity).
DISEASE: Defects in RDX are the cause of deafness autosomal recessive type 24 (DFNB24) [MIM:611022]. DFNB24 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
SIMILARITY: Contains 1 FERM domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RDX
Diseases sorted by gene-association score: deafness, autosomal recessive 24* (1246), nonsyndromic hearing loss and deafness* (283), autosomal recessive non-syndromic sensorineural deafness type dfnb* (117), dfnb24 nonsyndromic hearing loss and deafness* (100), nonsyndromic deafness* (81), neurofibromatosis, type 2 (21), kindler syndrome (9), meningioma, familial (6), pathologic nystagmus (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -75.90212-0.358 Picture PostScript Text
3' UTR -573.102428-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019749 - Band_41_domain
IPR019750 - Band_41_fam
IPR011174 - ERM
IPR011259 - ERM_C
IPR000798 - Ez/rad/moesin
IPR014352 - FERM/acyl-CoA-bd_prot_3-hlx
IPR019748 - FERM_central
IPR019747 - FERM_CS
IPR000299 - FERM_domain
IPR018979 - FERM_N
IPR018980 - FERM_PH-like_C
IPR008954 - Moesin
IPR011993 - PH_like_dom

Pfam Domains:
PF00373 - FERM central domain
PF00769 - Ezrin/radixin/moesin family
PF09379 - FERM N-terminal domain
PF09380 - FERM C-terminal PH-like domain

SCOP Domains:
47031 - Second domain of FERM
48678 - Moesin tail domain
101278 - N-terminal domain of adenylylcyclase associated protein, CAP
50729 - PH domain-like
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on P35241
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0019904 protein domain specific binding
GO:0042803 protein homodimerization activity
GO:0045296 cadherin binding
GO:0051018 protein kinase A binding
GO:0051117 ATPase binding

Biological Process:
GO:0008360 regulation of cell shape
GO:0008361 regulation of cell size
GO:0010628 positive regulation of gene expression
GO:0010737 protein kinase A signaling
GO:0030033 microvillus assembly
GO:0030335 positive regulation of cell migration
GO:0032231 regulation of actin filament bundle assembly
GO:0032487 regulation of Rap protein signal transduction
GO:0034111 negative regulation of homotypic cell-cell adhesion
GO:0034260 negative regulation of GTPase activity
GO:0036120 cellular response to platelet-derived growth factor stimulus
GO:0043087 regulation of GTPase activity
GO:0045176 apical protein localization
GO:0045184 establishment of protein localization
GO:0045792 negative regulation of cell size
GO:0051016 barbed-end actin filament capping
GO:0051693 actin filament capping
GO:0061028 establishment of endothelial barrier
GO:0072659 protein localization to plasma membrane
GO:0097067 cellular response to thyroid hormone stimulus
GO:1900027 regulation of ruffle assembly
GO:1900087 positive regulation of G1/S transition of mitotic cell cycle
GO:1902115 regulation of organelle assembly
GO:1902966 positive regulation of protein localization to early endosome
GO:1903364 positive regulation of cellular protein catabolic process
GO:1903392 negative regulation of adherens junction organization
GO:2000643 positive regulation of early endosome to late endosome transport

Cellular Component:
GO:0001726 ruffle
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0005913 cell-cell adherens junction
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0030027 lamellipodium
GO:0030175 filopodium
GO:0030315 T-tubule
GO:0030496 midbody
GO:0030864 cortical actin cytoskeleton
GO:0032154 cleavage furrow
GO:0032420 stereocilium
GO:0042995 cell projection
GO:0043209 myelin sheath
GO:0045177 apical part of cell
GO:0051286 cell tip
GO:0070062 extracellular exosome
GO:0071944 cell periphery


-  Descriptions from all associated GenBank mRNAs
  DQ916741 - Homo sapiens radixin isoform e (RDX) mRNA, complete cds, alternatively spliced.
DQ916742 - Homo sapiens radixin isoform f (RDX) mRNA, complete cds, alternatively spliced.
DQ916738 - Homo sapiens radixin isoform b (RDX) mRNA, complete cds, alternatively spliced.
DQ916739 - Homo sapiens radixin isoform c (RDX) mRNA, complete cds, alternatively spliced.
DQ916740 - Homo sapiens radixin isoform d (RDX) mRNA, complete cds, alternatively spliced.
AL137751 - Homo sapiens mRNA; cDNA DKFZp434I0812 (from clone DKFZp434I0812); partial cds.
BX648536 - Homo sapiens mRNA; cDNA DKFZp779D2226 (from clone DKFZp779D2226).
BC047109 - Homo sapiens radixin, mRNA (cDNA clone MGC:48283 IMAGE:5284438), complete cds.
BC029467 - Homo sapiens, clone IMAGE:4714836, mRNA, partial cds.
JD347874 - Sequence 328898 from Patent EP1572962.
JD061805 - Sequence 42829 from Patent EP1572962.
JD281804 - Sequence 262828 from Patent EP1572962.
JD328798 - Sequence 309822 from Patent EP1572962.
JD374807 - Sequence 355831 from Patent EP1572962.
JD086369 - Sequence 67393 from Patent EP1572962.
JD052809 - Sequence 33833 from Patent EP1572962.
JD433617 - Sequence 414641 from Patent EP1572962.
AF086024 - Homo sapiens full length insert cDNA clone YW23H05.
JD290422 - Sequence 271446 from Patent EP1572962.
JD353280 - Sequence 334304 from Patent EP1572962.
JD245338 - Sequence 226362 from Patent EP1572962.
JD315352 - Sequence 296376 from Patent EP1572962.
JD315826 - Sequence 296850 from Patent EP1572962.
JD327556 - Sequence 308580 from Patent EP1572962.
JD563709 - Sequence 544733 from Patent EP1572962.
JD094605 - Sequence 75629 from Patent EP1572962.
JD340350 - Sequence 321374 from Patent EP1572962.
JD356786 - Sequence 337810 from Patent EP1572962.
JD334940 - Sequence 315964 from Patent EP1572962.
JD515969 - Sequence 496993 from Patent EP1572962.
JD324214 - Sequence 305238 from Patent EP1572962.
JD358393 - Sequence 339417 from Patent EP1572962.
JD115320 - Sequence 96344 from Patent EP1572962.
JD245185 - Sequence 226209 from Patent EP1572962.
AK295075 - Homo sapiens cDNA FLJ58499 complete cds, highly similar to Radixin.
L02320 - Human radixin mRNA, complete cds.
AK316061 - Homo sapiens cDNA, FLJ78960 complete cds, highly similar to Radixin.
JD454627 - Sequence 435651 from Patent EP1572962.
JD330487 - Sequence 311511 from Patent EP1572962.
AK312903 - Homo sapiens cDNA, FLJ93349, Homo sapiens radixin (RDX), mRNA.
KJ897461 - Synthetic construct Homo sapiens clone ccsbBroadEn_06855 RDX gene, encodes complete protein.
KR710945 - Synthetic construct Homo sapiens clone CCSBHm_00018338 RDX (RDX) mRNA, encodes complete protein.
AB527544 - Synthetic construct DNA, clone: pF1KB6120, Homo sapiens RDX gene for radixin, without stop codon, in Flexi system.
BC020751 - Homo sapiens radixin, mRNA (cDNA clone IMAGE:4691774), partial cds.
BC002626 - Homo sapiens radixin, mRNA (cDNA clone IMAGE:3607251), partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P35241 (Reactome details) participates in the following event(s):

R-HSA-374677 L1 binds ERM family members
R-HSA-445089 Dephosphorylation of pL1 (Y1176)
R-HSA-374680 L1 trans-homophilic interaction
R-NUL-443049 L1 dimer binds Ankyrin
R-HSA-443779 Linkage of L1 with treadmilling F-actin
R-HSA-437239 Recycling pathway of L1
R-HSA-373760 L1CAM interactions
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A7YIJ8, A7YIK0, A7YIK3, B7Z9U6, ENST00000645495.1, F5H1A7, NM_002906, P35241, Q86Y61, RADI_HUMAN, uc328lqo.1, uc328lqo.2
UCSC ID: ENST00000645495.2_7
RefSeq Accession: NM_002906.4
Protein: P35241 (aka RADI_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RDX:
deafness-overview (Genetic Hearing Loss Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.