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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. 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).

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F109342 0.8 Ensembl ENCODE 34 -23.5 -23469 4.2 GTF2F1 CTCF USF1 SIN3A RAD21 ZFHX2 GATA3 CTBP1 EGR1 SMC3 EPB41L4B ENSG00000207329 GC09P109498
GH09F109315 1.3 Ensembl ENCODE 27.9 +2.2 2236 6.6 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 EPB41L4B RNU6-984P CTNNAL1 MTND2P11
GH09F109328 1.2 FANTOM5 Ensembl ENCODE 22.1 -9.4 -9387 3.2 TBP HDAC1 TBL1XR1 ARNT ZFP64 RAD21 ZNF766 GLIS2 GATA2 RCOR1 EPB41L4B PTPN3 ENSG00000207329 GC09P109498
GH09F109247 1 Ensembl ENCODE 20.1 +69.1 69055 7.8 PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF143 ZNF207 EPB41L4B RNU6-984P MTND2P11 GC09M109197
GH09F109273 0.5 ENCODE 17.8 +46.2 46220 2.2 HDGF PKNOX1 POLR2A EED ETV6 CREM CBFB ZBED1 TRIM22 CHD1 EPB41L4B MTND2P11 GC09M109197 RNU6-984P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001311162 864 2601 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 ZNF143 ZNF263

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

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

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

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).

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

Inhibitory RNA Products

Flow Cytometry 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
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

Gene Ontology (GO) - Cellular Components for EPB41L4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23664528
GO:0005856 cytoskeleton IEA,TAS --
GO:0005923 bicellular tight junction IEA --
GO:0019898 extrinsic component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with EPB41L4B: view

Pathways & Interactions for EPB41L4B Gene

SuperPathways for EPB41L4B Gene

No Data Available

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 Pathways by source and SIGNOR curated interactions for EPB41L4B Gene

Transcripts for EPB41L4B Gene

Unigene Clusters for EPB41L4B Gene

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

Inhibitory RNA Products

Flow Cytometry 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 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, 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).
genes like me logo Genes that share expression patterns with EPB41L4B: view

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
chimpanzee
(Pan troglodytes)
Mammalia EPB41L4B 34 35
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia EPB41L4B 34 35
  • 91.19 (n)
rat
(Rattus norvegicus)
Mammalia Epb41l4b 34
  • 90.99 (n)
mouse
(Mus musculus)
Mammalia Epb4.1l4b 34 35
  • 90.71 (n)
Epb41l4b 16
dog
(Canis familiaris)
Mammalia EPB41L4B 34 35
  • 90.64 (n)
oppossum
(Monodelphis domestica)
Mammalia EPB41L4B 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L4B 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L4B 34 35
  • 74.66 (n)
lizard
(Anolis carolinensis)
Reptilia EPB41L4B 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488561 34
  • 72.04 (n)
Str.7184 34
zebrafish
(Danio rerio)
Actinopterygii epb41l4b 35
  • 62 (a)
OneToOne
LOC100332627 34
  • 60.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta yrt 35
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-2 35
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for EPB41L4B Gene

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
rs1001448 -- 109,238,991(-) gtcca(A/G)gggcc intron-variant, nc-transcript-variant
rs1001799 -- 109,195,083(+) taaat(C/T)atgct intron-variant
rs10114919 -- 109,181,044(+) tctca(C/T)tctgt intron-variant
rs10114922 -- 109,181,066(+) GAATC(C/T)AGTGG intron-variant
rs10114938 -- 109,180,930(+) AGAAT(A/G)AGTTG 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)

Relevant External Links 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

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 64
  2. Expressed in high metastatic cells (Ehm2) is a positive regulator of keratinocyte adhesion and motility: The implication for wound healing. (PMID: 23664528) Bosanquet D.C. … Jiang W.G. (J. Dermatol. Sci. 2013) 3 4 64
  3. Lulu2 regulates the circumferential actomyosin tensile system in epithelial cells through p114RhoGEF. (PMID: 22006950) Nakajima H. … Tanoue T. (J. Cell Biol. 2011) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Androgen regulation of the human FERM domain encoding gene EHM2 in a cell model of steroid-induced differentiation. (PMID: 14521927) Chauhan S. … Miesfeld R.L. (Biochem. Biophys. Res. Commun. 2003) 3 4 64

Products for EPB41L4B Gene

Sources for EPB41L4B Gene

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