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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
  • Band 4.1-Like Protein 4B 3
  • 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. Among its related pathways are Tight junction. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton and cytoskeletal protein binding. An important paralog of this gene is EPB41L5.

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).

Additional gene information for EPB41L4B Gene

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

Genomics for EPB41L4B Gene

GeneHancer (GH) Regulatory Elements for EPB41L4B Gene

Promoters and enhancers for EPB41L4B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J109315 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 677.9 +2.2 2235 6.6 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 EPB41L4B RNU6-984P CTNNAL1 MTND2P11
GH09J109342 Enhancer 1.1 Ensembl ENCODE dbSUPER 34 -23.5 -23468 4.2 GTF2F1 CTCF CLOCK USF1 SIN3A RAD21 ZFHX2 CTBP1 GATA3 POLR2A EPB41L4B ENSG00000207329 GC09P109498
GH09J109328 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 22.1 -9.4 -9386 3.2 NFIB NEUROD1 SIN3A GLIS2 RCOR1 HCFC1 ELF1 SP1 ZNF217 NFIC EPB41L4B PTPN3 ENSG00000207329 GC09P109498
GH09J109247 Enhancer 1.4 Ensembl ENCODE dbSUPER 20.1 +69.1 69054 7.8 CLOCK FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 ZNF143 EPB41L4B RNU6-984P MTND2P11 GC09M109197
GH09J109472 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.8 -155.5 -155472 7.5 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF48 YY1 PTPN3 EPB41L4B PALM2 YBX1P6 GC09P109498 ENSG00000207329
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPB41L4B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPB41L4B gene promoter:

Genomic Locations for EPB41L4B Gene

Genomic Locations for EPB41L4B Gene
chr9:109,171,974-109,320,964
(GRCh38/hg38)
Size:
148,991 bases
Orientation:
Minus strand
chr9:111,934,254-112,083,244
(GRCh37/hg19)

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

Post-translational modifications for EPB41L4B Gene

No data available for DME Specific Peptides for EPB41L4B Gene

Domains & Families for EPB41L4B Gene

Gene Families for EPB41L4B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EPB41L4B Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for EPB41L4B Gene

Gene Ontology (GO) - Molecular Function for EPB41L4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 10783258
GO:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with EPB41L4B: view
genes like me logo Genes that share phenotypes with EPB41L4B: view

Animal Models for EPB41L4B Gene

MGI Knock Outs for EPB41L4B:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 EPB41L4B gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
mitochondrion 2
nucleus 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for EPB41L4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 23664528
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton TAS,IBA --
GO:0005886 plasma membrane IDA --
GO:0005923 bicellular tight junction IEA --
genes like me logo Genes that share ontologies with EPB41L4B: view

Pathways & Interactions for EPB41L4B Gene

SuperPathways for EPB41L4B Gene

SuperPathway Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with EPB41L4B: view

Pathways by source for EPB41L4B Gene

1 KEGG pathway 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
GO:0010837 NOT regulation of keratinocyte proliferation IMP 23664528
GO:0031032 actomyosin structure organization IDA 22006950
GO:0042060 wound healing IDA 23664528
GO:0045785 positive regulation of cell adhesion IMP 23664528
genes like me logo Genes that share ontologies with EPB41L4B: view

No data available for SIGNOR curated interactions for EPB41L4B Gene

Drugs & Compounds for EPB41L4B Gene

No Compound Related Data Available

Transcripts for EPB41L4B Gene

mRNA/cDNA for EPB41L4B Gene

Unigene Clusters for EPB41L4B Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EPB41L4B Gene



Protein tissue co-expression partners for EPB41L4B Gene

NURSA nuclear receptor signaling pathways regulating expression of EPB41L4B Gene:

EPB41L4B

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).

Evidence on tissue expression from TISSUES for EPB41L4B Gene

  • Nervous system(2)
genes like me logo Genes that share expression patterns with EPB41L4B: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EPB41L4B Gene

Orthologs for EPB41L4B Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41L4B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPB41L4B 34 33
  • 99.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPB41L4B 34 33
  • 91.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epb41l4b 33
  • 90.99 (n)
mouse
(Mus musculus)
Mammalia Epb4.1l4b 34 33
  • 90.71 (n)
OneToOne
Epb41l4b 16
dog
(Canis familiaris)
Mammalia EPB41L4B 34 33
  • 90.64 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPB41L4B 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L4B 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L4B 34 33
  • 74.66 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB41L4B 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488561 33
  • 72.04 (n)
Str.7184 33
zebrafish
(Danio rerio)
Actinopterygii epb41l4b 34
  • 62 (a)
OneToOne
LOC100332627 33
  • 60.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta yrt 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-2 34
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToMany
Species where no ortholog for EPB41L4B was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EPB41L4B: view image

Paralogs for EPB41L4B Gene

Paralogs for EPB41L4B Gene

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

  • E41LB_HUMAN
  • Q9H709_HUMAN
  • Q9NX84_HUMAN

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 Variation AA Info Type
rs1000043541 -- 109,266,934(-) A/T intron_variant
rs1000051268 -- 109,297,248(-) A/C intron_variant
rs1000057125 -- 109,236,031(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000113003 -- 109,232,776(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000131790 -- 109,238,020(-) G/A genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv4121n106 CNV deletion 24896259
dgv4122n106 CNV deletion 24896259
dgv7699n100 CNV gain 25217958
esv2738910 CNV deletion 23290073
esv29273 CNV loss 19812545
esv3303791 CNV mobile element insertion 20981092
esv3374924 CNV insertion 20981092
esv3422544 CNV insertion 20981092
nsv1077171 CNV deletion 25765185
nsv1125976 CNV tandem duplication 24896259
nsv1137496 CNV deletion 24896259
nsv825033 CNV gain 20364138
nsv831685 CNV gain 17160897

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)

Additional Variant Information for EPB41L4B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPB41L4B

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

Disorders for EPB41L4B Gene

Additional Disease Information for EPB41L4B

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

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 58
  2. Expressed in high metastatic cells (Ehm2) is a positive regulator of keratinocyte adhesion and motility: The implication for wound healing. (PMID: 23664528) Bosanquet DC … Jiang WG (Journal of dermatological science 2013) 3 4 58
  3. Lulu2 regulates the circumferential actomyosin tensile system in epithelial cells through p114RhoGEF. (PMID: 22006950) Nakajima H … Tanoue T (The Journal of cell biology 2011) 3 4 58
  4. 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
  5. Androgen regulation of the human FERM domain encoding gene EHM2 in a cell model of steroid-induced differentiation. (PMID: 14521927) Chauhan S … Miesfeld RL (Biochemical and biophysical research communications 2003) 3 4 58

Products for EPB41L4B Gene

Sources for EPB41L4B Gene

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