Human Gene EPB41L2 (uc003qci.3) Description and Page Index
  Description: Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 4, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr6:131,160,488-131,384,462 Size: 223,975 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr6:131,179,276-131,277,625 Size: 98,350 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:131,160,488-131,384,462)mRNA (may differ from genome)Protein (852 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E9PPD9_HUMAN
DESCRIPTION: SubName: Full=Band 4.1-like protein 2;
SIMILARITY: Contains 1 FERM domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): EPB41L2
CDC HuGE Published Literature: EPB41L2
Positive Disease Associations: CD40 Ligand , Cholesterol, HDL , Cholesterol, LDL , Electrocardiography , Hematocrit
Related Studies:
  1. CD40 Ligand
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
  2. Cholesterol, HDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Cholesterol, HDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -88.60195-0.454 Picture PostScript Text
3' UTR -323.101256-0.257 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

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

SCOP Domains:
47031 - Second domain of FERM
50729 - PH domain-like
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on E9PPD9
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 Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF208717 - JP 2014500723-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).
AK127088 - Homo sapiens cDNA FLJ45145 fis, clone BRAWH3041492, moderately similar to Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41).
AB209522 - Homo sapiens mRNA for EPB41L2 protein variant protein.
CR749262 - Homo sapiens mRNA; cDNA DKFZp781H1755 (from clone DKFZp781H1755).
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.
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.
MA444294 - JP 2018138019-A/16220: Polycomb-Associated Non-Coding RNAs.
AF054999 - Homo sapiens clone 24719 protein 4.1-G mRNA, partial cds.
AL050384 - Homo sapiens mRNA; cDNA DKFZp564J1082 (from clone DKFZp564J1082); partial cds.
JD509395 - Sequence 490419 from Patent EP1572962.
JD473055 - Sequence 454079 from Patent EP1572962.
JD466515 - Sequence 447539 from Patent EP1572962.
LF322050 - JP 2014500723-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.
JD494336 - Sequence 475360 from Patent EP1572962.
LF322045 - JP 2014500723-A/129548: Polycomb-Associated Non-Coding RNAs.
AJ251209 - Homo sapiens partial mRNA for 4.1G protein (EPB41L2 gene).
LF322040 - JP 2014500723-A/129543: Polycomb-Associated Non-Coding RNAs.
LF322039 - JP 2014500723-A/129542: Polycomb-Associated Non-Coding RNAs.
MA557627 - JP 2018138019-A/129553: Polycomb-Associated Non-Coding RNAs.
MA557626 - JP 2018138019-A/129552: Polycomb-Associated Non-Coding RNAs.
MA557622 - JP 2018138019-A/129548: Polycomb-Associated Non-Coding RNAs.
MA557617 - JP 2018138019-A/129543: Polycomb-Associated Non-Coding RNAs.
MA557616 - JP 2018138019-A/129542: Polycomb-Associated Non-Coding RNAs.
LF322023 - JP 2014500723-A/129526: Polycomb-Associated Non-Coding RNAs.
LF322021 - JP 2014500723-A/129524: Polycomb-Associated Non-Coding RNAs.
LF322009 - JP 2014500723-A/129512: Polycomb-Associated Non-Coding RNAs.
LF322008 - JP 2014500723-A/129511: Polycomb-Associated Non-Coding RNAs.
LF322007 - JP 2014500723-A/129510: Polycomb-Associated Non-Coding RNAs.
LF322006 - JP 2014500723-A/129509: Polycomb-Associated Non-Coding RNAs.
MA557600 - JP 2018138019-A/129526: Polycomb-Associated Non-Coding RNAs.
MA557598 - JP 2018138019-A/129524: Polycomb-Associated Non-Coding RNAs.
MA557586 - JP 2018138019-A/129512: Polycomb-Associated Non-Coding RNAs.
MA557585 - JP 2018138019-A/129511: Polycomb-Associated Non-Coding RNAs.
MA557584 - JP 2018138019-A/129510: 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

-  Other Names for This Gene
  Alternate Gene Symbols: E9PPD9, E9PPD9_HUMAN, NM_001199388, NP_001186318
UCSC ID: uc003qci.3
RefSeq Accession: NM_001199388
Protein: E9PPD9 CCDS: CCDS56450.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001199388.2
exon count: 18CDS single in 3' UTR: no RNA size: 4023
ORF size: 2559CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5294.00frame shift in genome: no % Coverage: 99.68
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.