Human Gene EPB41L2 (ENST00000528282.5) from GENCODE V44
  Description: Homo sapiens erythrocyte membrane protein band 4.1 like 2 (EPB41L2), transcript variant 6, mRNA. (from RefSeq NM_001252660)
Gencode Transcript: ENST00000528282.5
Gencode Gene: ENSG00000079819.20
Transcript (Including UTRs)
   Position: hg38 chr6:130,839,347-131,000,767 Size: 161,421 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg38 chr6:130,858,136-130,956,485 Size: 98,350 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:130,839,347-131,000,767)mRNA (may differ from genome)Protein (747 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E41L2_HUMAN
DESCRIPTION: RecName: Full=Band 4.1-like protein 2; AltName: Full=Generally expressed protein 4.1; Short=4.1G;
SUBUNIT: Interacts with FCGR1A. Interacts with TRPC4. The CTD domain interacts with FKBP2 (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cell membrane.
TISSUE SPECIFICITY: Widely expressed.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
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


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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.05 RPKM in Nerve - Tibial
Total median expression: 811.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -46.30162-0.286 Picture PostScript Text
3' UTR -307.471257-0.245 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
IPR008379 - Band_4.1_C
IPR019749 - Band_41_domain
IPR019750 - Band_41_fam
IPR021187 - Band_41_protein
IPR000798 - Ez/rad/moesin
IPR014847 - FERM-adjacent
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
IPR011993 - PH_like_dom
IPR007477 - SAB

Pfam Domains:
PF05902 - 4.1 protein C-terminal domain (CTD)
PF08736 - FERM adjacent (FA)
PF09380 - FERM C-terminal PH-like domain
PF00373 - FERM central domain
PF09379 - FERM N-terminal domain
PF04382 - SAB domain

ModBase Predicted Comparative 3D Structure on O43491
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0030507 spectrin binding
GO:0042731 PH domain binding

Biological Process:
GO:0007049 cell cycle
GO:0030866 cortical actin cytoskeleton organization
GO:0031032 actomyosin structure organization
GO:0051301 cell division
GO:1904778 positive regulation of protein localization to cell cortex

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0005938 cell cortex
GO:0008091 spectrin
GO:0016020 membrane
GO:0030054 cell junction
GO:0070062 extracellular exosome
GO:0099738 cell cortex region
GO:0008180 COP9 signalosome


-  Descriptions from all associated GenBank mRNAs
  LF208717 - JP 2014500723-A/16220: Polycomb-Associated Non-Coding RNAs.
MA444294 - JP 2018138019-A/16220: Polycomb-Associated Non-Coding RNAs.
AF027299 - Homo sapiens protein 4.1-G mRNA, complete cds.
BC034718 - Homo sapiens erythrocyte membrane protein band 4.1-like 2, mRNA (cDNA clone MGC:9278 IMAGE:3868632), complete cds.
CR936793 - Homo sapiens mRNA; cDNA DKFZp781D1972 (from clone DKFZp781D1972).
AB209522 - Homo sapiens mRNA for EPB41L2 protein variant protein.
CR749262 - Homo sapiens mRNA; cDNA DKFZp781H1755 (from clone DKFZp781H1755).
AK295124 - Homo sapiens cDNA FLJ58484 complete cds, highly similar to Band 4.1-like protein 2.
AY047584 - Homo sapiens protein 4.1G mRNA, complete cds.
AB384964 - Synthetic construct DNA, clone: pF1KB4590, Homo sapiens EPB41L2 gene for band 4.1-like protein 2, complete cds, without stop codon, in Flexi system.
AK307764 - Homo sapiens cDNA, FLJ97712.
JF432714 - Synthetic construct Homo sapiens clone IMAGE:100073955 erythrocyte membrane protein band 4.1-like 2 (EPB41L2) gene, encodes complete protein.
KJ901408 - Synthetic construct Homo sapiens clone ccsbBroadEn_10802 EPB41L2 gene, encodes complete protein.
AF054999 - Homo sapiens clone 24719 protein 4.1-G mRNA, partial cds.
AK127088 - Homo sapiens cDNA FLJ45145 fis, clone BRAWH3041492, moderately similar to Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41).
AL050384 - Homo sapiens mRNA; cDNA DKFZp564J1082 (from clone DKFZp564J1082); partial cds.
JD509395 - Sequence 490419 from Patent EP1572962.
JD466515 - Sequence 447539 from Patent EP1572962.
LF322050 - JP 2014500723-A/129553: Polycomb-Associated Non-Coding RNAs.
MA557627 - JP 2018138019-A/129553: Polycomb-Associated Non-Coding RNAs.
JD564673 - Sequence 545697 from Patent EP1572962.
JD374699 - Sequence 355723 from Patent EP1572962.
JD098693 - Sequence 79717 from Patent EP1572962.
JD318643 - Sequence 299667 from Patent EP1572962.
JD334006 - Sequence 315030 from Patent EP1572962.
JD303201 - Sequence 284225 from Patent EP1572962.
LF322049 - JP 2014500723-A/129552: Polycomb-Associated Non-Coding RNAs.
MA557626 - JP 2018138019-A/129552: Polycomb-Associated Non-Coding RNAs.
AK295958 - Homo sapiens cDNA FLJ54004 complete cds, moderately similar to Band 4.1-like protein 2.
AY512660 - Homo sapiens 4.1G isoform (EPB41L2) mRNA, complete cds, alternatively spliced.
JD494336 - Sequence 475360 from Patent EP1572962.
JD348634 - Sequence 329658 from Patent EP1572962.
LF322045 - JP 2014500723-A/129548: Polycomb-Associated Non-Coding RNAs.
MA557622 - JP 2018138019-A/129548: Polycomb-Associated Non-Coding RNAs.
LF322023 - JP 2014500723-A/129526: Polycomb-Associated Non-Coding RNAs.
MA557600 - JP 2018138019-A/129526: Polycomb-Associated Non-Coding RNAs.
LF322021 - JP 2014500723-A/129524: Polycomb-Associated Non-Coding RNAs.
MA557598 - JP 2018138019-A/129524: Polycomb-Associated Non-Coding RNAs.
LF322009 - JP 2014500723-A/129512: Polycomb-Associated Non-Coding RNAs.
MA557586 - JP 2018138019-A/129512: Polycomb-Associated Non-Coding RNAs.
LF322008 - JP 2014500723-A/129511: Polycomb-Associated Non-Coding RNAs.
MA557585 - JP 2018138019-A/129511: Polycomb-Associated Non-Coding RNAs.
LF322007 - JP 2014500723-A/129510: Polycomb-Associated Non-Coding RNAs.
MA557584 - JP 2018138019-A/129510: Polycomb-Associated Non-Coding RNAs.
LF322006 - JP 2014500723-A/129509: Polycomb-Associated Non-Coding RNAs.
MA557583 - JP 2018138019-A/129509: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04530 - Tight junction

Reactome (by CSHL, EBI, and GO)

Protein O43491 (Reactome details) participates in the following event(s):

R-HSA-6797553 Protein 4.1 binds CASK
R-HSA-6797568 NRXNs bind CASK:Protein 4.1
R-HSA-6794361 Neurexins and neuroligins
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: B4DHI8, E41L2_HUMAN, ENST00000528282.1, ENST00000528282.2, ENST00000528282.3, ENST00000528282.4, NM_001252660, O43491, Q5T4F0, uc003qcg.1, uc003qcg.2
UCSC ID: ENST00000528282.5
RefSeq Accession: NM_001252660
Protein: O43491 (aka E41L2_HUMAN or E4L2_HUMAN)
CCDS: CCDS59037.1

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