Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EPB41L2 Gene

Aliases for EPB41L2 Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 2 2 3
  • Erythrocyte Membrane Protein Band 4.1-Like 2 3 5
  • Generally Expressed Protein 4.1 3 4
  • 4.1G 3 4
  • Erythrocyte Membrane Protein Band 4.1 Like-Protein 2 3
  • 4.1-G 3

External Ids for EPB41L2 Gene

Previous GeneCards Identifiers for EPB41L2 Gene

  • GC06M131007
  • GC06M131141
  • GC06M131202
  • GC06M128741
  • GC06M131160

Summaries for EPB41L2 Gene

GeneCards Summary for EPB41L2 Gene

EPB41L2 (Erythrocyte Membrane Protein Band 4.1 Like 2) is a Protein Coding gene. Among its related pathways are Tight junction. GO annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is FRMD3.

Gene Wiki entry for EPB41L2 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB41L2 Gene

Genomics for EPB41L2 Gene

Regulatory Elements for EPB41L2 Gene

Promoters for EPB41L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPB41L2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPB41L2 Gene

Chromosome:
6
Start:
130,828,173 bp from pter
End:
131,063,322 bp from pter
Size:
235,150 bases
Orientation:
Minus strand

Genomic View for EPB41L2 Gene

Genes around EPB41L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPB41L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPB41L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB41L2 Gene

Proteins for EPB41L2 Gene

  • Protein details for EPB41L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43491-E41L2_HUMAN
    Recommended name:
    Band 4.1-like protein 2
    Protein Accession:
    O43491
    Secondary Accessions:
    • B4DHI8
    • E9PPD9
    • Q5T4F0
    • Q68DV2

    Protein attributes for EPB41L2 Gene

    Size:
    1005 amino acids
    Molecular mass:
    112588 Da
    Quaternary structure:
    • Interacts with FCGR1A. Interacts with TRPC4. The CTD domain interacts with FKBP2 (By similarity).

    Alternative splice isoforms for EPB41L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPB41L2 Gene

Proteomics data for EPB41L2 Gene at MOPED

Post-translational modifications for EPB41L2 Gene

  • Ubiquitination at Lys 86, Lys 160, Lys 270, and Lys 474
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for EPB41L2

No data available for DME Specific Peptides for EPB41L2 Gene

Domains & Families for EPB41L2 Gene

Gene Families for EPB41L2 Gene

Graphical View of Domain Structure for InterPro Entry

O43491

UniProtKB/Swiss-Prot:

E41L2_HUMAN :
  • Contains 1 FERM domain.
Domain:
  • Contains 1 FERM domain.
genes like me logo Genes that share domains with EPB41L2: view

Function for EPB41L2 Gene

Molecular function for EPB41L2 Gene

GENATLAS Biochemistry:
erythrocyte surface protein 4.1-like 2,113kDa,widely expressed,ezrin/moesin/radixin-like (ERM) family member,responding and participating in reorganization of membrane-cytoplasmic interaction,binding F-actin to spectrin domain

Gene Ontology (GO) - Molecular Function for EPB41L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005198 structural molecule activity IEA --
GO:0042731 PH domain binding IEA --
genes like me logo Genes that share ontologies with EPB41L2: view
genes like me logo Genes that share phenotypes with EPB41L2: view

Animal Models for EPB41L2 Gene

MGI Knock Outs for EPB41L2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPB41L2 Gene

Localization for EPB41L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPB41L2 Gene

Cytoplasm, cytoskeleton. Cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPB41L2 Gene COMPARTMENTS Subcellular localization image for EPB41L2 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
plasma membrane 5
cytosol 3

Gene Ontology (GO) - Cellular Components for EPB41L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0008091 spectrin TAS 9598318
GO:0008180 colocalizes_with COP9 signalosome IDA 18850735
GO:0019898 extrinsic component of membrane IEA --
genes like me logo Genes that share ontologies with EPB41L2: view

Pathways & Interactions for EPB41L2 Gene

SuperPathways for EPB41L2 Gene

Superpath Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with EPB41L2: view

Pathways by source for EPB41L2 Gene

1 KEGG pathway for EPB41L2 Gene

Gene Ontology (GO) - Biological Process for EPB41L2 Gene

None

No data available for SIGNOR curated interactions for EPB41L2 Gene

Drugs & Compounds for EPB41L2 Gene

No Compound Related Data Available

Transcripts for EPB41L2 Gene

Unigene Clusters for EPB41L2 Gene

Erythrocyte membrane protein band 4.1-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - - - - - - -
SP2:
SP3:
SP4: - - - - - - - -
SP5:
SP6:
SP7: - - - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - -
SP9:
SP10:
SP11:
SP12: - - - - - - - -
SP13: - - -
SP14:
SP15:
SP16: - - - - - -
SP17: - - - - - - -
SP18: - - - - -
SP19: - - - -
SP20: - -
SP21: -

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33a · 33b · 33c
SP1: - - - - - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - -
SP4:
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10: - - -
SP11: -
SP12:
SP13:
SP14:
SP15: - - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for EPB41L2 Gene

GeneLoc Exon Structure for
EPB41L2
ECgene alternative splicing isoforms for
EPB41L2

Expression for EPB41L2 Gene

mRNA expression in normal human tissues for EPB41L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPB41L2 Gene

This gene is overexpressed in Retina (17.0), Spinal cord (12.2), and Ovary (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPB41L2 Gene



SOURCE GeneReport for Unigene cluster for EPB41L2 Gene Hs.486470

mRNA Expression by UniProt/SwissProt for EPB41L2 Gene

O43491-E41L2_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with EPB41L2: view

Protein tissue co-expression partners for EPB41L2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for EPB41L2 Gene

Orthologs for EPB41L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPB41L2 36
  • 100 (a)
OneToOne
EPB41L2 35
  • 99.87 (n)
  • 99.9 (a)
cow
(Bos Taurus)
Mammalia EPB41L2 35
  • 87.97 (n)
  • 87.84 (a)
EPB41L2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPB41L2 36
  • 81 (a)
OneToOne
EPB41L2 35
  • 83.38 (n)
  • 83.49 (a)
mouse
(Mus musculus)
Mammalia Epb41l2 16
Epb4.1l2 36
  • 84 (a)
OneToOne
Epb4.1l2 35
  • 85.33 (n)
  • 83.37 (a)
oppossum
(Monodelphis domestica)
Mammalia EPB41L2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L2 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epb41l2 35
  • 84.85 (n)
  • 83.1 (a)
chicken
(Gallus gallus)
Aves EPB41L2 35
  • 74.19 (n)
  • 73.82 (a)
EPB41L2 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB41L2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41l2 35
  • 64.11 (n)
  • 61.34 (a)
zebrafish
(Danio rerio)
Actinopterygii epb41l2 35
  • 63.33 (n)
  • 64.81 (a)
EPB41L2 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5022 37
  • 35 (a)
cora 37
  • 58 (a)
cora 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-1 35
  • 50.44 (n)
  • 42.69 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for EPB41L2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EPB41L2 Gene

ENSEMBL:
Gene Tree for EPB41L2 (if available)
TreeFam:
Gene Tree for EPB41L2 (if available)

Paralogs for EPB41L2 Gene

genes like me logo Genes that share paralogs with EPB41L2: view

Variants for EPB41L2 Gene

Sequence variations from dbSNP and Humsavar for EPB41L2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2297852 - 130,956,435(-) AGCCA(A/G/T)TTAGG intron-variant, nc-transcript-variant, reference, missense
rs12965 -- 130,839,604(-) GATTC(A/G)CACAG intron-variant, utr-variant-3-prime
rs977140 -- 130,960,955(-) AATAG(A/G)TACCT intron-variant
rs928592 -- 130,856,959(-) agtaa(C/T)aggca intron-variant
rs954919 -- 131,009,639(+) AATCT(A/G)AACTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPB41L2 Gene

Variant ID Type Subtype PubMed ID
esv267684 CNV Insertion 20981092
esv2666689 CNV Deletion 23128226
esv270827 CNV Insertion 20981092
esv273885 CNV Insertion 20981092
nsv5477 CNV Insertion 18451855

Variation tolerance for EPB41L2 Gene

Residual Variation Intolerance Score: 76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.73; 57.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPB41L2 Gene

HapMap Linkage Disequilibrium report
EPB41L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB41L2 Gene

Disorders for EPB41L2 Gene

Relevant External Links for EPB41L2

Genetic Association Database (GAD)
EPB41L2
Human Genome Epidemiology (HuGE) Navigator
EPB41L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPB41L2

No disorders were found for EPB41L2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPB41L2 Gene

Publications for EPB41L2 Gene

  1. Cloning and characterization of 4.1G (EPB41L2), a new member of the skeletal protein 4.1 (EPB41) gene family. (PMID: 9598318) Parra M. … Conboy J.G. (Genomics 1998) 2 3 4 23 67
  2. Four paralogous protein 4.1 genes map to distinct chromosomes in mouse and human. (PMID: 9828140) Peters L.L. … Conboy J.G. (Genomics 1998) 2 3
  3. ABCE1 is a highly conserved RNA silencing suppressor. (PMID: 25659154) KAorblane K. … Sarmiento C. (PLoS ONE 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Analysis of HIV-1 Gag protein interactions via biotin ligase tagging. (PMID: 25631074) Ritchie C. … Barklis E. (J. Virol. 2015) 3

Products for EPB41L2 Gene

Sources for EPB41L2 Gene

Back to Top

Content