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Aliases for EPB41L4B Gene

Aliases for EPB41L4B Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 4B 2 3 5
  • FERM-Containing Protein CG1 3 4
  • EHM2 3 4
  • Protein EHM2 4
  • LULU2 4
  • CG1 3

External Ids for EPB41L4B Gene

Previous GeneCards Identifiers for EPB41L4B Gene

  • GC09M103666
  • GC09M105391
  • GC09M107314
  • GC09M107286
  • GC09M109013
  • GC09M110974
  • GC09M111934
  • GC09M081534

Summaries for EPB41L4B Gene

GeneCards Summary for EPB41L4B Gene

EPB41L4B (Erythrocyte Membrane Protein Band 4.1 Like 4B) is a Protein Coding gene. GO annotations related to this gene include structural constituent of cytoskeleton and cytoskeletal protein binding. An important paralog of this gene is FRMD3.

UniProtKB/Swiss-Prot for EPB41L4B Gene

  • Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18 (By similarity). Involved in the regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950). Promotes cellular adhesion, migration and motility in vitro and may play a role in wound healing (PubMed:23664528). May have a role in mediating cytoskeletal changes associated with steroid-induced cell differentiation (PubMed:14521927).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB41L4B Gene

Genomics for EPB41L4B Gene

Regulatory Elements for EPB41L4B Gene

Enhancers for EPB41L4B 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 EPB41L4B on UCSC Golden Path with GeneCards custom track

Promoters for EPB41L4B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPB41L4B on UCSC Golden Path with GeneCards custom track

Genomic Location for EPB41L4B Gene

Chromosome:
9
Start:
109,171,974 bp from pter
End:
109,320,964 bp from pter
Size:
148,991 bases
Orientation:
Minus strand

Genomic View for EPB41L4B Gene

Genes around EPB41L4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPB41L4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPB41L4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB41L4B Gene

Proteins for EPB41L4B Gene

  • Protein details for EPB41L4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H329-E41LB_HUMAN
    Recommended name:
    Band 4.1-like protein 4B
    Protein Accession:
    Q9H329
    Secondary Accessions:
    • Q5T4G5
    • Q5T4G6
    • Q9H328
    • Q9P2V3

    Protein attributes for EPB41L4B Gene

    Size:
    900 amino acids
    Molecular mass:
    99712 Da
    Quaternary structure:
    • Interacts (via FERM domain) with ARHGEF18 (via C-terminus); the interaction activates ARHGEF18.
    SequenceCaution:
    • Sequence=AAG43366.1; Type=Frameshift; Positions=19, 35, 870; Evidence={ECO:0000305}; Sequence=AAG43368.1; Type=Frameshift; Positions=19, 35; Evidence={ECO:0000305};

    Alternative splice isoforms for EPB41L4B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPB41L4B Gene

Proteomics data for EPB41L4B Gene at MOPED

Post-translational modifications for EPB41L4B Gene

Other Protein References for EPB41L4B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EPB41L4B Gene

Domains & Families for EPB41L4B Gene

Suggested Antigen Peptide Sequences for EPB41L4B Gene

Graphical View of Domain Structure for InterPro Entry

Q9H329

UniProtKB/Swiss-Prot:

E41LB_HUMAN :
  • Contains 1 FERM domain.
Domain:
  • Contains 1 FERM domain.
genes like me logo Genes that share domains with EPB41L4B: view

No data available for Gene Families for EPB41L4B Gene

Function for EPB41L4B Gene

Molecular function for EPB41L4B Gene

UniProtKB/Swiss-Prot Function:
Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18 (By similarity). Involved in the regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950). Promotes cellular adhesion, migration and motility in vitro and may play a role in wound healing (PubMed:23664528). May have a role in mediating cytoskeletal changes associated with steroid-induced cell differentiation (PubMed:14521927).
UniProtKB/Swiss-Prot Induction:
By the androgen dihydrotestosterone (DHT).
genes like me logo Genes that share phenotypes with EPB41L4B: view

Animal Models for EPB41L4B Gene

MGI Knock Outs for EPB41L4B:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPB41L4B Gene

Localization for EPB41L4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPB41L4B Gene

Cytoplasm. Cell junction, tight junction. Note=Accumulates along apical cell-cell boundaries and is also detected in the cytoplasm in a punctate manner. {ECO:0000269 PubMed:22006950}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPB41L4B Gene COMPARTMENTS Subcellular localization image for EPB41L4B gene
Compartment Confidence
cytoskeleton 5
cytosol 4
mitochondrion 2
nucleus 2
plasma membrane 2

No data available for Gene Ontology (GO) - Cellular Components for EPB41L4B Gene

Pathways & Interactions for EPB41L4B Gene

SuperPathways for EPB41L4B Gene

No Data Available

Interacting Proteins for EPB41L4B Gene

Gene Ontology (GO) - Biological Process for EPB41L4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010628 positive regulation of gene expression IMP 23664528
genes like me logo Genes that share ontologies with EPB41L4B: view

No data available for Pathways by source and SIGNOR curated interactions for EPB41L4B Gene

Drugs & Compounds for EPB41L4B Gene

No Compound Related Data Available

Transcripts for EPB41L4B Gene

Unigene Clusters for EPB41L4B Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L4B Gene

No ASD Table

Relevant External Links for EPB41L4B Gene

GeneLoc Exon Structure for
EPB41L4B
ECgene alternative splicing isoforms for
EPB41L4B

Expression for EPB41L4B Gene

mRNA expression in normal human tissues for EPB41L4B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPB41L4B Gene

This gene is overexpressed in Pancreas (x11.8).

Protein differential expression in normal tissues from HIPED for EPB41L4B Gene

This gene is overexpressed in Pancreas (40.5), Placenta (19.0), and Stomach (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPB41L4B Gene



SOURCE GeneReport for Unigene cluster for EPB41L4B Gene Hs.591901

mRNA Expression by UniProt/SwissProt for EPB41L4B Gene

Q9H329-E41LB_HUMAN
Tissue specificity: Expressed at higher levels in acute wounds than chronic wounds with increased expression in healing wounds, especially at the leading wound edge (PubMed:23664528). Isoform 1 is highly expressed in brain. Isoform 2 is highly expressed in testis with lower levels in prostate and breast (PubMed:14521927).
genes like me logo Genes that share expression patterns with EPB41L4B: view

Protein tissue co-expression partners for EPB41L4B Gene

Primer Products

Orthologs for EPB41L4B Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41L4B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EPB41L4B 35
  • 91.19 (n)
  • 92.89 (a)
EPB41L4B 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPB41L4B 35
  • 90.64 (n)
  • 92.35 (a)
EPB41L4B 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.1l4b 35
  • 90.71 (n)
  • 97.66 (a)
Epb41l4b 16
Epb4.1l4b 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPB41L4B 35
  • 99.56 (n)
  • 99.48 (a)
EPB41L4B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epb41l4b 35
  • 90.99 (n)
  • 97.66 (a)
oppossum
(Monodelphis domestica)
Mammalia EPB41L4B 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L4B 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L4B 35
  • 74.66 (n)
  • 75.89 (a)
EPB41L4B 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB41L4B 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488561 35
  • 72.04 (n)
  • 77.2 (a)
Str.7184 35
zebrafish
(Danio rerio)
Actinopterygii LOC100332627 35
  • 60.61 (n)
  • 59.01 (a)
epb41l4b 36
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta yrt 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-2 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToMany
Species with no ortholog for EPB41L4B:
  • 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 EPB41L4B Gene

ENSEMBL:
Gene Tree for EPB41L4B (if available)
TreeFam:
Gene Tree for EPB41L4B (if available)

Paralogs for EPB41L4B Gene

(13) SIMAP similar genes for EPB41L4B Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for EPB41L4B Gene

genes like me logo Genes that share paralogs with EPB41L4B: view

Variants for EPB41L4B Gene

Sequence variations from dbSNP and Humsavar for EPB41L4B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs3750450 - 109,182,769(-) AATGA(A/C)CCCGT intron-variant, reference, missense
rs729862 -- 109,258,836(-) TCCCG(A/C)AGTTG intron-variant
rs745388 -- 109,258,388(+) CATTA(C/T)AAAGC intron-variant
rs746417 -- 109,259,708(-) GGCCA(C/T)TCATC intron-variant
rs746418 -- 109,259,464(-) CTGAT(C/G)TGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPB41L4B Gene

Variant ID Type Subtype PubMed ID
esv268070 CNV Insertion 20981092
esv2738910 CNV Deletion 23290073
nsv831685 CNV Gain 17160897
nsv893706 CNV Gain 21882294
nsv825033 CNV Gain 20364138
esv29273 CNV Loss 19812545

Variation tolerance for EPB41L4B Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPB41L4B Gene

HapMap Linkage Disequilibrium report
EPB41L4B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB41L4B Gene

Disorders for EPB41L4B Gene

Relevant External Links for EPB41L4B

Genetic Association Database (GAD)
EPB41L4B
Human Genome Epidemiology (HuGE) Navigator
EPB41L4B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPB41L4B

No disorders were found for EPB41L4B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPB41L4B Gene

Publications for EPB41L4B Gene

  1. Molecular cloning of a novel NF2/ERM/4.1 superfamily gene, Ehm2, that is expressed in high-metastatic K1735 murine melanoma cells. (PMID: 10783258) Shimizu K. … Yokota J. (Genomics 2000) 2 3 4 67
  2. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. CRB3A Controls the Morphology and Cohesion of Cancer Cells through Ehm2/p114RhoGEF-Dependent Signaling. (PMID: 26217016) Loie E. … Laprise P. (Mol. Cell. Biol. 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for EPB41L4B Gene

Sources for EPB41L4B Gene

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