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

Aliases for EPB41L4A Gene

Aliases for EPB41L4A Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 4A 2 3 5
  • EPB41L4 3 4
  • Erythrocyte Protein Band 4.1-Like 4 3
  • Protein NBL4 4
  • NBL4 3

External Ids for EPB41L4A Gene

Previous GeneCards Identifiers for EPB41L4A Gene

  • GC05M111923
  • GC05M111509
  • GC05M111555
  • GC05M111576
  • GC05M111507
  • GC05M106677
  • GC05M111478

Summaries for EPB41L4A Gene

Entrez Gene Summary for EPB41L4A Gene

  • Members of the band 4.1 protein superfamily, including EPB41L4A, are thought to regulate the interaction between the cytoskeleton and plasma membrane (Ishiguro et al., 2000 [PubMed 10874211]).[supplied by OMIM, Jul 2008]

GeneCards Summary for EPB41L4A Gene

EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A) is a Protein Coding gene. Diseases associated with EPB41L4A include Mixed Germ Cell Cancer. GO annotations related to this gene include cytoskeletal protein binding. An important paralog of this gene is FRMD3.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB41L4A Gene

Genomics for EPB41L4A Gene

Regulatory Elements for EPB41L4A Gene

Enhancers for EPB41L4A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EPB41L4A on UCSC Golden Path with GeneCards custom track

Promoters for EPB41L4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPB41L4A on UCSC Golden Path with GeneCards custom track

Genomic Location for EPB41L4A Gene

112,142,319 bp from pter
112,419,490 bp from pter
277,172 bases
Minus strand

Genomic View for EPB41L4A Gene

Genes around EPB41L4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPB41L4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPB41L4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB41L4A Gene

Proteins for EPB41L4A Gene

  • Protein details for EPB41L4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Band 4.1-like protein 4A
    Protein Accession:
    Secondary Accessions:
    • A4FUI6

    Protein attributes for EPB41L4A Gene

    686 amino acids
    Molecular mass:
    79059 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EPB41L4A Gene

Proteomics data for EPB41L4A Gene at MOPED

Post-translational modifications for EPB41L4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EPB41L4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EPB41L4A Gene

Domains & Families for EPB41L4A Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 FERM domain.
  • Contains 1 FERM domain.
genes like me logo Genes that share domains with EPB41L4A: view

No data available for Gene Families for EPB41L4A Gene

Function for EPB41L4A Gene

Phenotypes for EPB41L4A Gene

MGI mutant phenotypes for EPB41L4A:
inferred from 1 alleles
GenomeRNAi human phenotypes for EPB41L4A:
genes like me logo Genes that share phenotypes with EPB41L4A: view

Animal Models for EPB41L4A Gene

MGI Knock Outs for EPB41L4A:

Animal Model Products

CRISPR Products

miRNA for EPB41L4A Gene

miRTarBase miRNAs that target EPB41L4A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPB41L4A Gene

Localization for EPB41L4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPB41L4A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

Jensen Localization Image for EPB41L4A Gene COMPARTMENTS Subcellular localization image for EPB41L4A gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for EPB41L4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with EPB41L4A: view

Pathways & Interactions for EPB41L4A Gene

SuperPathways for EPB41L4A Gene

No Data Available

Interacting Proteins for EPB41L4A Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000261486 Q9HCS5-E41LA_HUMAN for EPB41L4A Gene via STRING I2D

Gene Ontology (GO) - Biological Process for EPB41L4A Gene


No data available for Pathways by source and SIGNOR curated interactions for EPB41L4A Gene

Drugs & Compounds for EPB41L4A Gene

No Compound Related Data Available

Transcripts for EPB41L4A Gene

Unigene Clusters for EPB41L4A Gene

Erythrocyte membrane protein band 4.1 like 4A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L4A Gene

No ASD Table

Relevant External Links for EPB41L4A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EPB41L4A Gene

mRNA expression in normal human tissues for EPB41L4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPB41L4A Gene

This gene is overexpressed in Cervix (37.9), Plasma (16.7), and Adrenal (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for EPB41L4A Gene

SOURCE GeneReport for Unigene cluster for EPB41L4A Gene Hs.584954

mRNA Expression by UniProt/SwissProt for EPB41L4A Gene

Tissue specificity: Expressed in many tissues. High levels of expression in brain, liver, thymus and peripheral blood leukocytes and low levels of expression in heart, kidney, testis and colon.
genes like me logo Genes that share expression patterns with EPB41L4A: view

Protein tissue co-expression partners for EPB41L4A Gene

Primer Products

No data available for mRNA differential expression in normal tissues for EPB41L4A Gene

Orthologs for EPB41L4A Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41L4A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EPB41L4A 35
  • 92.1 (n)
  • 95.62 (a)
EPB41L4A 36
  • 95 (a)
(Canis familiaris)
Mammalia EPB41L4A 35
  • 85.33 (n)
  • 90.03 (a)
EPB41L4A 36
  • 89 (a)
(Mus musculus)
Mammalia Epb4.1l4a 35
  • 87.07 (n)
  • 93.29 (a)
Epb41l4a 16
Epb4.1l4a 36
  • 93 (a)
(Pan troglodytes)
Mammalia EPB41L4A 35
  • 99.32 (n)
  • 99.42 (a)
EPB41L4A 36
  • 100 (a)
(Monodelphis domestica)
Mammalia EPB41L4A 36
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia EPB41L4A 36
  • 80 (a)
(Gallus gallus)
Aves EPB41L4A 35
  • 79.87 (n)
  • 87.04 (a)
EPB41L4A 36
  • 84 (a)
(Anolis carolinensis)
Reptilia EPB41L4A 36
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41l4a 35
  • 76.3 (n)
  • 81.71 (a)
Str.5813 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.2882 35
(Danio rerio)
Actinopterygii epb4.1l4 35
epb41l4a 35
  • 69.21 (n)
  • 76.74 (a)
epb41l4a 36
  • 73 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001632 35
  • 47.88 (n)
  • 45.54 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG34347 36
  • 14 (a)
Species with no ortholog for EPB41L4A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for EPB41L4A Gene

Gene Tree for EPB41L4A (if available)
Gene Tree for EPB41L4A (if available)

Paralogs for EPB41L4A Gene

(19) SIMAP similar genes for EPB41L4A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EPB41L4A: view

Variants for EPB41L4A Gene

Sequence variations from dbSNP and Humsavar for EPB41L4A Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs34008454 - 112,266,272(-) GTCCC(A/G)TCAAC reference, missense
rs712676 -- 112,412,668(-) CGTTT(A/G)TTTCT intron-variant
rs712677 -- 112,402,626(-) TAAAT(A/G)TCTGT intron-variant
rs712678 -- 112,398,776(-) TACTC(A/G)CAGGG intron-variant
rs712679 -- 112,389,670(-) cttta(C/T)agacg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPB41L4A Gene

Variant ID Type Subtype PubMed ID
nsv519077 CNV Loss 19592680
esv2730600 CNV Deletion 23290073
nsv882714 CNV Loss 21882294
esv268133 CNV Insertion 20981092
nsv462386 CNV Gain 19166990
nsv437471 CNV Loss 16327808
esv274937 CNV Gain+Loss 21479260
nsv519008 CNV Loss 19592680
esv6662 CNV Gain 19470904

Variation tolerance for EPB41L4A Gene

Residual Variation Intolerance Score: 92.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.54; 77.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPB41L4A Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB41L4A Gene

Disorders for EPB41L4A Gene

MalaCards: The human disease database

(1) MalaCards diseases for EPB41L4A Gene - From: DISEASES

Disorder Aliases PubMed IDs
mixed germ cell cancer
  • mixed germ cell neoplasm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for EPB41L4A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EPB41L4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPB41L4A Gene

Publications for EPB41L4A Gene

  1. Isolation and characterization of human NBL4, a gene involved in the beta-catenin/tcf signaling pathway. (PMID: 10874211) Ishiguro H. … Nakamura Y. (Jpn. J. Cancer Res. 2000) 2 3 4 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3
  4. Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. (PMID: 21810271) Antoni G. … Tregouet D.A. (BMC Med. Genet. 2011) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for EPB41L4A Gene

Sources for EPB41L4A Gene