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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
  • Band 4.1-Like Protein 4A 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

  • The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]

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. Gene Ontology (GO) annotations related to this gene include cytoskeletal protein binding. An important paralog of this gene is EPB41L5.

Additional gene information for EPB41L4A Gene

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

Genomics for EPB41L4A Gene

GeneHancer (GH) Regulatory Elements for EPB41L4A Gene

Promoters and enhancers for EPB41L4A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I112417 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 568.3 +0.3 316 3 ARNT SIN3A GLI4 ZNF2 ZBTB7B ZNF121 GLIS2 ZNF213 ARID2 ZNF143 EPB41L4A EPB41L4A-AS2 ENSG00000248350
GH05I112338 Enhancer 0.9 Ensembl ENCODE 25.8 +80.8 80755 1.2 MXI1 FOXA2 JUN MAX CEBPG YY1 ZKSCAN1 E2F1 CTBP1 GATA3 GC05M112329 EPB41L4A ENSG00000251187 ENSG00000248350
GH05I112182 Enhancer 0.9 Ensembl ENCODE 20.2 +236.0 236008 1.2 MEIS2 TAL1 BMI1 ZIC2 HIC1 ZFHX2 POLR2A ZNF366 EGR2 RFX1 EPB41L4A ENSG00000250882 ENSG00000251187
GH05I112165 Enhancer 0.8 ENCODE 18.6 +253.2 253245 1.6 FOXA2 SIN3A ZNF335 THAP11 CEBPB ZNF217 NFIL3 SSRP1 ATF4 KLF16 PIR36107 EPB41L4A ENSG00000251187 ENSG00000250882
GH05I112204 Enhancer 0.7 ENCODE 21.1 +213.8 213750 1.6 ETV1 TEAD4 TAL1 EBF1 TCF12 CTBP1 NCOR1 CBFA2T2 TRIM24 IKZF2 GC05M112191 EPB41L4A ENSG00000251187 LOC101927023 ENSG00000250882
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPB41L4A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPB41L4A gene promoter:

Genomic Locations for EPB41L4A Gene

Genomic Locations for EPB41L4A Gene
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

Post-translational modifications for EPB41L4A Gene

No Post-translational modifications

No data available for DME Specific Peptides for EPB41L4A Gene

Domains & Families for EPB41L4A Gene

Gene Families for EPB41L4A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

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

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

Function for EPB41L4A Gene

Phenotypes From GWAS Catalog for EPB41L4A Gene

Gene Ontology (GO) - Molecular Function for EPB41L4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005200 structural constituent of cytoskeleton IBA --
GO:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with EPB41L4A: view

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

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPB41L4A gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPB41L4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IBA --
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

Gene Ontology (GO) - Biological Process for EPB41L4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0031032 actomyosin structure organization IBA --
genes like me logo Genes that share ontologies with EPB41L4A: view

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EPB41L4A Gene

Protein tissue co-expression partners for EPB41L4A Gene

NURSA nuclear receptor signaling pathways regulating expression of EPB41L4A Gene:


SOURCE GeneReport for Unigene cluster for EPB41L4A Gene:


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.

Evidence on tissue expression from TISSUES for EPB41L4A Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with EPB41L4A: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia EPB41L4A 33 34
  • 99.32 (n)
(Bos Taurus)
Mammalia EPB41L4A 33 34
  • 92.1 (n)
(Mus musculus)
Mammalia Epb4.1l4a 33 34
  • 87.07 (n)
Epb41l4a 16
(Canis familiaris)
Mammalia EPB41L4A 33 34
  • 85.33 (n)
(Ornithorhynchus anatinus)
Mammalia EPB41L4A 34
  • 80 (a)
(Monodelphis domestica)
Mammalia EPB41L4A 34
  • 79 (a)
(Gallus gallus)
Aves EPB41L4A 33 34
  • 79.87 (n)
(Anolis carolinensis)
Reptilia EPB41L4A 34
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41l4a 33
  • 76.3 (n)
Str.5813 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2882 33
(Danio rerio)
Actinopterygii epb41l4a 33 34
  • 69.21 (n)
epb4.1l4 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001632 33
  • 47.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG34347 34
  • 14 (a)
Species where no ortholog for EPB41L4A was found in the sources mined by GeneCards:
  • 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

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 Variation AA Info Type
rs730882207 likely-pathogenic, Failure to thrive, Spastic paraplegia 112,204,453(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000008681 -- 112,202,786(-) G/C intron_variant
rs1000017565 -- 112,224,423(-) G/C intron_variant
rs1000020307 -- 112,367,274(-) A/G intron_variant
rs1000026637 -- 112,274,139(-) G/C intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1124e214 CNV loss 21293372
dgv5782n100 CNV loss 25217958
esv2730600 CNV deletion 23290073
esv274937 CNV gain+loss 21479260
esv3303854 CNV mobile element insertion 20981092
esv3347337 CNV insertion 20981092
esv3405974 CNV insertion 20981092
esv3606287 CNV gain 21293372
esv3606290 CNV loss 21293372
esv3606291 CNV loss 21293372
esv3606292 CNV loss 21293372
esv3606294 CNV gain 21293372
esv3606295 CNV loss 21293372
esv6662 CNV gain 19470904
nsv437471 CNV loss 16327808
nsv462386 CNV gain 19166990
nsv473753 CNV novel sequence insertion 20440878
nsv519008 CNV loss 19592680
nsv519077 CNV loss 19592680
nsv599367 CNV gain 21841781
nsv599368 CNV gain 21841781
nsv599371 CNV loss 21841781
nsv599372 CNV gain 21841781
nsv950114 CNV deletion 24416366

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)

Additional Variant Information for EPB41L4A Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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: HGMD and DISEASES

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

Additional Disease Information for EPB41L4A

Genetic Association Database
Human Genome Epidemiology 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 (Japanese journal of cancer research : Gann 2000) 2 3 4 58
  2. Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. (PMID: 21810271) Antoni G … Tregouet DA (BMC medical genetics 2011) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 58

Products for EPB41L4A Gene

Sources for EPB41L4A Gene

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