Aliases for EPB41L2 Gene

Aliases for EPB41L2 Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 2 2 3 5
  • Generally Expressed Protein 4.1 3 4
  • Band 4.1-Like Protein 2 3 4
  • 4.1G 3 4
  • Erythrocyte Membrane Protein Band 4.1 Like-Protein 2 3
  • 4.1-G 3

External Ids for EPB41L2 Gene

Previous GeneCards Identifiers for EPB41L2 Gene

  • GC06M131007
  • GC06M131141
  • GC06M131202
  • GC06M128741
  • GC06M131160

Summaries for EPB41L2 Gene

GeneCards Summary for EPB41L2 Gene

EPB41L2 (Erythrocyte Membrane Protein Band 4.1 Like 2) is a Protein Coding gene. Diseases associated with EPB41L2 include Hereditary Elliptocytosis. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is EPB41L3.

UniProtKB/Swiss-Prot Summary for EPB41L2 Gene

  • Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127).

Gene Wiki entry for EPB41L2 Gene

Additional gene information for EPB41L2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPB41L2 Gene

Genomics for EPB41L2 Gene

GeneHancer (GH) Regulatory Elements for EPB41L2 Gene

Promoters and enhancers for EPB41L2 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
GH06J131061 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 504.8 +0.7 721 3.6 SIN3A NRF1 POLR2G SP1 ZNF10 EP300 ZIC2 POLR2A ZBTB10 ZBTB26 EPB41L2 LOC105378004 MED23 lnc-SAMD3-5
GH06J131000 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 510.8 +59.9 59859 5.5 TEAD4 TRIM28 ATF2 ZNF341 WT1 ZBTB17 ZNF335 SCRT1 BHLHE40 ZNF18 EPB41L2 AKAP7 SMLR1 lnc-SAMD3-5
GH06J131037 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 +24.3 24321 2.8 EP300 NCOR1 KDM6A TCF7 FOXA1 ZBTB25 SKI TEAD1 TBX3 ZKSCAN8 EPB41L2 AKAP7 lnc-SAMD3-5
GH06J131013 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 +48.4 48367 3.9 ZNF639 FOXA1 TRIM28 OSR2 NR2F2 BCL11A WT1 FOXA2 ZBTB17 TCF7L2 EPB41L2 AKAP7 lnc-SAMD3-5
GH06J130992 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +67.6 67621 6.2 ZNF217 ZBTB11 TCF7 AFF1 REST CUX1 CTBP1 OSR2 HDAC3 NCOR1 EPB41L2 AKAP7 lnc-SAMD3-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPB41L2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPB41L2

Top Transcription factor binding sites by QIAGEN in the EPB41L2 gene promoter:
  • aMEF-2
  • N-Myc
  • POU2F1
  • POU2F1a
  • Sox5

Genomic Locations for EPB41L2 Gene

Genomic Locations for EPB41L2 Gene
chr6:130,828,173-131,063,322
(GRCh38/hg38)
Size:
235,150 bases
Orientation:
Minus strand
chr6:131,160,487-131,384,462
(GRCh37/hg19)
Size:
223,976 bases
Orientation:
Minus strand

Genomic View for EPB41L2 Gene

Genes around EPB41L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPB41L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPB41L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB41L2 Gene

Proteins for EPB41L2 Gene

  • Protein details for EPB41L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43491-E41L2_HUMAN
    Recommended name:
    Band 4.1-like protein 2
    Protein Accession:
    O43491
    Secondary Accessions:
    • B4DHI8
    • E9PPD9
    • Q5T4F0
    • Q68DV2

    Protein attributes for EPB41L2 Gene

    Size:
    1005 amino acids
    Molecular mass:
    112588 Da
    Quaternary structure:
    • Interacts with FCGR1A (PubMed:18023480). Interacts with TRPC4 (PubMed:16254212). Interacts (via CTD domain) with FKBP2 (By similarity). Interacts with NUMA1; this interaction is negatively regulated by CDK1 during metaphase and promotes anaphase-specific localization of NUMA1 in symmetrically dividing cells (PubMed:23870127).

    Alternative splice isoforms for EPB41L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPB41L2 Gene

Post-translational modifications for EPB41L2 Gene

  • Ubiquitination at Lys86, Lys160, Lys270, Lys399, and Lys474
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EPB41L2 Gene

Domains & Families for EPB41L2 Gene

Gene Families for EPB41L2 Gene

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

Suggested Antigen Peptide Sequences for EPB41L2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58484, highly similar to Band 4.1-like protein 2 (B4DHI8_HUMAN)
  • Generally expressed protein 4.1 (E41L2_HUMAN)
  • cDNA FLJ45145 fis, clone BRAWH3041492, moderately similar to Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41) (Q6ZSX4_HUMAN)
  • 4.1G protein (Q9H1C6_HUMAN)
genes like me logo Genes that share domains with EPB41L2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EPB41L2 Gene

Function for EPB41L2 Gene

Molecular function for EPB41L2 Gene

UniProtKB/Swiss-Prot Function:
Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127).
GENATLAS Biochemistry:
erythrocyte surface protein 4.1-like 2,113kDa,widely expressed,ezrin/moesin/radixin-like (ERM) family member,responding and participating in reorganization of membrane-cytoplasmic interaction,binding F-actin to spectrin domain

Phenotypes From GWAS Catalog for EPB41L2 Gene

Gene Ontology (GO) - Molecular Function for EPB41L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 23870127
GO:0008092 cytoskeletal protein binding IEA --
GO:0030507 spectrin binding IEA --
genes like me logo Genes that share ontologies with EPB41L2: view
genes like me logo Genes that share phenotypes with EPB41L2: view

Animal Models for EPB41L2 Gene

MGI Knock Outs for EPB41L2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB41L2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPB41L2 Gene

Localization for EPB41L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPB41L2 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Cell membrane.

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 EPB41L2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 4
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
  • Cell Junctions (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPB41L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with EPB41L2: view

Pathways & Interactions for EPB41L2 Gene

genes like me logo Genes that share pathways with EPB41L2: view

Pathways by source for EPB41L2 Gene

Gene Ontology (GO) - Biological Process for EPB41L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0030866 cortical actin cytoskeleton organization IEA --
GO:0031032 actomyosin structure organization IBA 21873635
GO:0051301 cell division IEA --
GO:1904778 positive regulation of protein localization to cell cortex IMP 23870127
genes like me logo Genes that share ontologies with EPB41L2: view

No data available for SIGNOR curated interactions for EPB41L2 Gene

Drugs & Compounds for EPB41L2 Gene

No Compound Related Data Available

Transcripts for EPB41L2 Gene

mRNA/cDNA for EPB41L2 Gene

23 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB41L2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - - - - - - -
SP2:
SP3:
SP4: - - - - - - - -
SP5:
SP6:
SP7: - - - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - -
SP9:
SP10:
SP11:
SP12: - - - - - - - -
SP13: - - -
SP14:
SP15:
SP16: - - - - - -
SP17: - - - - - - -
SP18: - - - - -
SP19: - - - -
SP20: - -
SP21: -

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33a · 33b · 33c
SP1: - - - - - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - -
SP4:
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10: - - -
SP11: -
SP12:
SP13:
SP14:
SP15: - - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for EPB41L2 Gene

GeneLoc Exon Structure for
EPB41L2

Expression for EPB41L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPB41L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPB41L2 Gene

This gene is overexpressed in Retina (17.0), Spinal cord (12.2), and Ovary (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPB41L2 Gene



Protein tissue co-expression partners for EPB41L2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPB41L2

SOURCE GeneReport for Unigene cluster for EPB41L2 Gene:

Hs.486470

mRNA Expression by UniProt/SwissProt for EPB41L2 Gene:

O43491-E41L2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for EPB41L2 Gene

  • Nervous system(5)
  • Eye(4.6)
  • Blood(4.4)
  • Heart(4.4)
  • Liver(4.3)
  • Intestine(2.7)
  • Spleen(2)
genes like me logo Genes that share expression patterns with EPB41L2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPB41L2 Gene

Orthologs for EPB41L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPB41L2 31 30
  • 99.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPB41L2 31 30
  • 87.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.1l2 31 30
  • 85.33 (n)
OneToOne
Epb41l2 17
rat
(Rattus norvegicus)
Mammalia Epb41l2 30
  • 84.85 (n)
dog
(Canis familiaris)
Mammalia EPB41L2 31 30
  • 83.38 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L2 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPB41L2 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L2 31 30
  • 74.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB41L2 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41l2 30
  • 64.11 (n)
zebrafish
(Danio rerio)
Actinopterygii epb41l2 30
  • 63.33 (n)
EPB41L2 31
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5022 32
  • 35 (a)
cora 31 32
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-1 30
  • 50.44 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToMany
Species where no ortholog for EPB41L2 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 EPB41L2 Gene

ENSEMBL:
Gene Tree for EPB41L2 (if available)
TreeFam:
Gene Tree for EPB41L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPB41L2: view image

Paralogs for EPB41L2 Gene

(16) SIMAP similar genes for EPB41L2 Gene using alignment to 18 proteins:

  • E41L2_HUMAN
  • E9PHY5_HUMAN
  • E9PIG0_HUMAN
  • E9PII3_HUMAN
  • E9PJP4_HUMAN
  • E9PK52_HUMAN
  • E9PMG5_HUMAN
  • E9PMV8_HUMAN
  • E9PN54_HUMAN
  • E9PPC9_HUMAN
  • E9PQD2_HUMAN
  • E9PQN0_HUMAN
  • E9PRG1_HUMAN
  • H0Y5B0_HUMAN
  • I6L9B1_HUMAN
  • Q6R5J7_HUMAN
  • Q6ZSX4_HUMAN
  • Q9H1C6_HUMAN
genes like me logo Genes that share paralogs with EPB41L2: view

Variants for EPB41L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPB41L2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
776154 Benign: not provided 130,885,265(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
785179 Benign: not provided 130,869,620(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs2297852 - p.Gln17His

Additional dbSNP identifiers (rs#s) for EPB41L2 Gene

Structural Variations from Database of Genomic Variants (DGV) for EPB41L2 Gene

Variant ID Type Subtype PubMed ID
esv2666689 CNV deletion 23128226
esv3303405 CNV mobile element insertion 20981092
esv3358048 CNV insertion 20981092
esv3364061 CNV insertion 20981092
esv3571394 CNV loss 25503493
esv3610800 CNV loss 21293372
nsv5477 CNV insertion 18451855

Variation tolerance for EPB41L2 Gene

Residual Variation Intolerance Score: 76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.73; 57.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPB41L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPB41L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB41L2 Gene

Disorders for EPB41L2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EPB41L2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hereditary elliptocytosis
  • congenital elliptocytosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EPB41L2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EPB41L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPB41L2 Gene

Publications for EPB41L2 Gene

  1. Cloning and characterization of 4.1G (EPB41L2), a new member of the skeletal protein 4.1 (EPB41) gene family. (PMID: 9598318) Parra M … Conboy JG (Genomics 1998) 2 3 4 23 54
  2. Cortical dynein and asymmetric membrane elongation coordinately position the spindle in anaphase. (PMID: 23870127) Kiyomitsu T … Cheeseman IM (Cell 2013) 3 4 54
  3. Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. (PMID: 22331829) Chasman DI … Ridker PM (Circulation. Cardiovascular genetics 2012) 3 41 54
  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 41 54
  5. Protein 4.1G binds to a unique motif within the Fc gamma RI cytoplasmic tail. (PMID: 18023480) Beekman JM … Leusen JH (Molecular immunology 2008) 3 4 54

Products for EPB41L2 Gene

Sources for EPB41L2 Gene