Aliases for EPB41L3 Gene
Aliases for EPB41L3 Gene
External Ids for EPB41L3 Gene
- HGNC: 3380
- Entrez Gene: 23136
- Ensembl: ENSG00000082397
- OMIM: 605331
- UniProtKB: Q9Y2J2
Previous GeneCards Identifiers for EPB41L3 Gene
- GC18P005437
- GC18M005456
Summaries for EPB41L3 Gene
GeneCards Summary for EPB41L3 Gene
EPB41L3 (Erythrocyte Membrane Protein Band 4.1 Like 3) is a Protein Coding gene. Diseases associated with EPB41L3 include Adenocarcinoma and Lung Cancer. Among its related pathways are Tight junction. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is FRMD3.
UniProtKB/Swiss-Prot for EPB41L3 Gene
-
Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5.
No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB41L3 Gene
Genomics for EPB41L3 Gene
Regulatory Elements for EPB41L3 Gene
Enhancers for EPB41L3 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 EPB41L3 on UCSC Golden Path with GeneCards custom track
Promoters for EPB41L3 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around EPB41L3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for EPB41L3 Gene
- Chromosome:
- 18
- Start:
- 5,392,381 bp from pter
- End:
- 5,630,700 bp from pter
- Size:
- 238,320 bases
- Orientation:
- Minus strand
Genomic View for EPB41L3 Gene
Genes around EPB41L3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18p11.31 by Ensembl
- 18p11.32 by Entrez Gene
- 18p11.32 by HGNC
EPB41L3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EPB41L3 Gene
Proteins for EPB41L3 Gene
-
Protein details for EPB41L3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y2J2-E41L3_HUMAN
- Recommended name:
- Band 4.1-like protein 3
- Protein Accession:
- Q9Y2J2
- B7Z4I5
- F5GX05
- O95713
- Q9BRP5
Protein attributes for EPB41L3 Gene
- Size:
- 1087 amino acids
- Molecular mass:
- 120678 Da
- Quaternary structure:
-
- Interacts (via FERM domain) with CADM1. Interacts with PRMT3, PRMT5 and PRMT6.
- SequenceCaution:
-
- Sequence=AAC79806.1; Type=Frameshift; Positions=29, 59; Evidence={ECO:0000305}; Sequence=BAA76831.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for EPB41L3 Gene
Post-translational modifications for EPB41L3 Gene
Other Protein References for EPB41L3 Gene
- ENSEMBL proteins:
-
- ENSP00000343158
- ENSP00000382981
- ENSP00000441174
- ENSP00000442091
- ENSP00000461937
- ENSP00000462338
- ENSP00000462692
- ENSP00000462783
- ENSP00000463122
- ENSP00000463289
- ENSP00000463707
- ENSP00000464020
- ENSP00000464148
- ENSP00000464336
- ENSP00000464533
- ENSP00000464570
- ENSP00000487780
- ENSP00000487786
- ENSP00000487915
- ENSP00000488037
- ENSP00000488095
- ENSP00000488626
- ENSP00000488647
- ENSP00000489405
- ENSP00000341138
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for EPB41L3
- Novus Biologicals Antibodies for EPB41L3
- Invitrogen Antibodies for EPB41L3
- antibodies-online Antibodies for EPB41L3: See all 40
- GeneTex EPB41L3 antibody for EPB41L3
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPB41L3
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for EPB41L3
- Origene Custom Protein Services for EPB41L3
- antibodies-online Proteins for EPB41L3: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for EPB41L3
Assay Products
- antibodies-online Kits for EPB41L3: See all 5
No data available for DME Specific Peptides for EPB41L3 Gene
Domains & Families for EPB41L3 Gene
Gene Families for EPB41L3 Gene
Protein Domains for EPB41L3 Gene
Suggested Antigen Peptide Sequences for EPB41L3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y2J2- Domain:
-
- Contains 1 FERM domain.
Function for EPB41L3 Gene
Molecular function for EPB41L3 Gene
- GENATLAS Biochemistry:
- erythrocyte surface protein 4.1-like 3,expressed in the brain
- UniProtKB/Swiss-Prot Function:
- Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IEA | -- |
Phenotypes for EPB41L3 Gene
- MGI mutant phenotypes for EPB41L3:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for EPB41L3:
Animal Models for EPB41L3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for EPB41L3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EPB41L3 gene
- Search ViGene Biosciences for EPB41L3
CRISPR Products
-
OriGene CRISPR knockouts for EPB41L3
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPB41L3
- GenScript: Design CRISPR guide RNA sequences for EPB41L3
miRNA for EPB41L3 Gene
- miRTarBase miRNAs that target EPB41L3
-
- hsa-mir-223-3p (MIRT006374)
- hsa-mir-877-3p (MIRT037171)
- hsa-mir-92a-3p (MIRT049330)
- hsa-let-7b-5p (MIRT051992)
- hsa-mir-1305 (MIRT551184)
- hsa-mir-498 (MIRT551185)
- hsa-mir-4465 (MIRT551186)
- hsa-mir-26b-5p (MIRT551187)
- hsa-mir-26a-5p (MIRT551188)
- hsa-mir-1297 (MIRT551189)
- hsa-mir-627-3p (MIRT551190)
- hsa-mir-4275 (MIRT551191)
- hsa-mir-5697 (MIRT551192)
- hsa-mir-551b-5p (MIRT551193)
- hsa-mir-548c-3p (MIRT551194)
- hsa-mir-4684-5p (MIRT637420)
- hsa-mir-3675-3p (MIRT637421)
- hsa-mir-4524b-3p (MIRT637422)
- hsa-mir-7161-5p (MIRT637423)
- hsa-mir-548u (MIRT637424)
miRNA Products
- Search ViGene Biosciences for EPB41L3
Inhibitory RNA Products
- Origene siRNA, shRNA, rat_shrna, and RNAi products in human, mouse, rat for EPB41L3
- Browse OriGene Inhibitory RNA Products For EPB41L3
-
ViGene Biosciences ready-to-package AAV shRNAs for EPB41L3 gene
Clone Products
- OriGene clones in human for EPB41L3
- OriGene ORF clones in human,rat for EPB41L3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA clones in your preferred vector
- NM_001281535
- NM_001281534
- NM_001281533
- NM_012307
- XM_011525637
- XM_011525636
- XM_011525635
- XM_011525634
- XM_011525633
- XM_011525632
- XM_011525631
- XM_011525630
- XM_011525629
- XM_011525628
- XM_011525627
- XM_011525626
- XM_011525625
- XM_011525624
- XM_011525623
- XM_011525622
- XM_011525621
- XM_011525620
- XM_011525619
- XM_011525618
- XM_011525617
- XM_011525606
- XM_011525607
- XM_011525608
- XM_011525609
- XM_011525610
- XM_011525611
- XM_011525612
- XM_011525613
- XM_011525614
- XM_011525615
- XM_011525616
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for EPB41L3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for EPB41L3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EPB41L3 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPB41L3 Gene
Localization for EPB41L3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EPB41L3 Gene
- Cytoplasm, cytoskeleton. Cell junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Note=Detected in the cytoplasm of actively dividing cells.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 4 |
| cytosol | 3 |
| extracellular | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005911 | cell-cell junction | IEA,IDA | 12234973 |
| GO:0019898 | extrinsic component of membrane | IEA | -- |
| GO:0033270 | paranode region of axon | ISS | -- |
Pathways & Interactions for EPB41L3 Gene
More details on SuperPathways for EPB41L3| Superpath | Contained pathways | |
|---|---|---|
| 1 | Tight junction |
Pathways by source for EPB41L3 Gene
1 KEGG pathway for EPB41L3 Gene
Interacting Proteins for EPB41L3 Gene
Selected Interacting proteins:
Q9Y2J2-E41L3_HUMAN
ENSP00000341138
for EPB41L3 Gene via
MINT
STRING
UniProtKB
I2D
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0008150 | biological_process | ND | -- |
| GO:0008360 | regulation of cell shape | ISS | -- |
| GO:0030865 | cortical cytoskeleton organization | TAS | 21966409 |
| GO:0043217 | myelin maintenance | ISS | -- |
No data available for SIGNOR curated interactions for EPB41L3 Gene
Transcripts for EPB41L3 Gene
mRNA/cDNA for EPB41L3 Gene
- (36) REFSEQ mRNAs :
- (19) Additional mRNA sequences :
- (188) Selected AceView cDNA sequences:
- (35) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for EPB41L3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EPB41L3
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPB41L3
- GenScript: Design CRISPR guide RNA sequences for EPB41L3
miRNA Products
- Search ViGene Biosciences for EPB41L3
Inhibitory RNA Products
- Origene siRNA, shRNA, rat_shrna, and RNAi products in human, mouse, rat for EPB41L3
- Browse OriGene Inhibitory RNA Products For EPB41L3
-
ViGene Biosciences ready-to-package AAV shRNAs for EPB41L3 gene
Clone Products
- OriGene clones in human for EPB41L3
- OriGene ORF clones in human,rat for EPB41L3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA clones in your preferred vector
- NM_001281535
- NM_001281534
- NM_001281533
- NM_012307
- XM_011525637
- XM_011525636
- XM_011525635
- XM_011525634
- XM_011525633
- XM_011525632
- XM_011525631
- XM_011525630
- XM_011525629
- XM_011525628
- XM_011525627
- XM_011525626
- XM_011525625
- XM_011525624
- XM_011525623
- XM_011525622
- XM_011525621
- XM_011525620
- XM_011525619
- XM_011525618
- XM_011525617
- XM_011525606
- XM_011525607
- XM_011525608
- XM_011525609
- XM_011525610
- XM_011525611
- XM_011525612
- XM_011525613
- XM_011525614
- XM_011525615
- XM_011525616
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c | · | 15d | · | 15e | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - |
| ExUns: | 19a | · | 19b | · | 19c | ^ | 20a | · | 20b | · | 20c | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | · | 23c | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29a | · | 29b | · | 29c | · | 29d | · | 29e |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP18: | - |
Expression for EPB41L3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- GABAergic Amacrine Cells Inner Nuclear Layer
- Conjunctival Epithelium
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Brain (Nervous System)
- Neural Crest (Gastrulation Derivatives)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
-
Lung (Respiratory System)
- Basal Cells Trachea
-
Epithelial Cells
- Basal Cells Trachea
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
- Ovary (Reproductive System)
- Paraxial Mesoderm (Gastrulation Derivatives)
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
- Placenta (Extraembryonic Tissues)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Kidney (Urinary System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for EPB41L3 Gene
This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.4).
This gene is overexpressed in Frontal cortex (30.3), Brain (14.6), and Spinal cord (8.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPB41L3 Gene
SOURCE GeneReport for Unigene cluster for EPB41L3 Gene Hs.213394
mRNA Expression by UniProt/SwissProt for EPB41L3 Gene
Q9Y2J2-E41L3_HUMAN
Tissue specificity:
Expressed at high levels in brain, with lower levels in kidney, intestine, and testis. Detected in lung.
- Elite partner
Primer Products
-
OriGene qPCR primer pairs for EPB41L3
Orthologs for EPB41L3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | EPB41L3 35 |
|
||
| EPB41L3 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | EPB41L3 35 |
|
||
| EPB41L3 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Epb4.1l3 35 |
|
||
| Epb41l3 16 |
|
||||
| Epb4.1l3 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | EPB41L3 35 |
|
||
| EPB41L3 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Epb41l3 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EPB41L3 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | EPB41L3 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EPB41L3 35 |
|
||
| EPB41L3 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | EPB41L3 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | epb41l3 35 |
|
||
| Str.17099 35 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | epb41l3b 35 |
|
||
| CABZ01090303.1 36 |
|
OneToMany | |||
| epb41l3b 36 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG5022 37 |
|
|
|
| cora 37 |
|
|
|||
| cora 36 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | frm-3 37 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
OneToMany |
- Species with no ortholog for EPB41L3:
-
- 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)
Paralogs for EPB41L3 Gene
Paralogs for EPB41L3 Gene
(15) SIMAP similar genes for EPB41L3 Gene using alignment to 16 proteins:
Variants for EPB41L3 Gene
| SNP ID | Clin | Chr 18 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs9966357 | - | 5,416,222(+) | CAAGG(C/T)GGGCT | intron-variant, reference, missense | |
| rs8082898 | - | 5,416,161(+) | GTCTG(C/T)AGCTA | intron-variant, reference, missense | |
| rs8096452 | - | 5,397,324(+) | CTCCT(C/G)CACCA | reference, missense | |
| rs3638 | -- | 5,544,831(-) | AAATC(C/T)ATCCT | intron-variant, upstream-variant-2KB | |
| rs1544242 | -- | 5,538,248(+) | TGTCT(A/G)TGCTT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv184n21 | CNV | Gain | 19592680 |
| esv273358 | CNV | Insertion | 20981092 |
| esv2716715 | CNV | Deletion | 23290073 |
| esv3439 | CNV | Deletion | 18987735 |
| esv2671954 | CNV | Deletion | 23128226 |
| dgv53n6 | CNV | Loss | 16902084 |
| esv989108 | CNV | Deletion | 20482838 |
| esv2716716 | CNV | Deletion | 23290073 |
| esv2716717 | CNV | Deletion | 23290073 |
| esv2716719 | CNV | Deletion | 23290073 |
| esv2666529 | CNV | Deletion | 23128226 |
| nsv521827 | CNV | Loss | 19592680 |
Residual Variation Intolerance Score:
40.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.49;
71.78% of all genes are more intolerant (likely to be disease-causing)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for EPB41L3 Gene
Disorders for EPB41L3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adenocarcinoma |
|
|
| lung cancer |
|
|
| meningioma, familial |
|
|
| bejel |
|
|
| renal clear cell carcinoma |
|
|
Search EPB41L3 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for EPB41L3
No data available for UniProtKB/Swiss-Prot and Genatlas for EPB41L3 Gene
Publications for EPB41L3 Gene
- A novel member of the NF2/ERM/4.1 superfamily with growth suppressing properties in lung cancer. (PMID: 9892180) Tran Y.K. … Newsham I.F. (Cancer Res. 1999) 2 3 4 23 67
- Frequent concomitant epigenetic silencing of the stress-responsive tumor suppressor gene CADM1, and its interacting partner DAL-1 in nasal NK/T-cell lymphoma. (PMID: 19115211) Fu L. … Tao Q. (Int. J. Cancer 2009) 3 23
- A Golgi-associated protein 4.1B variant is required for assimilation of proteins in the membrane. (PMID: 19299464) Kang Q. … An X. (J. Cell. Sci. 2009) 3 23
- SynCAM1 recruits NMDA receptors via protein 4.1B. (PMID: 19796685) Hoy J.L. … Washbourne P. (Mol. Cell. Neurosci. 2009) 3 23
- Potential role of EPB41L3 (protein 4.1B/Dal-1) as a target for treatment of advanced prostate cancer. (PMID: 18554153) Bernkopf D.B. … Williams E.D. (Expert Opin. Ther. Targets 2008) 3 23
Products for EPB41L3 Gene
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- GeneTex EPB41L3 antibody for EPB41L3
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- ViGene Biosciences adenoviral particle packaged cDNA for EPB41L3 gene
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Sources for EPB41L3 Gene
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