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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EPB41L3 Gene

protein-coding GIFtS: 63
GCID: GC18M005382

Erythrocyte Membrane Protein Band 4.1-Like 3

23 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Erythrocyte Membrane Protein Band 4.1-Like 3¹ ²		DAL-1² ³
DAL1² ³ ⁵		Band 4.1-Like Protein 3²
Differentially Expressed In Adenocarcinoma Of The Lung Protein 1² ³		KIAA0987³
4.1B² ³

External Ids:	HGNC: 3380¹	Entrez Gene: 23136²	Ensembl: ENSG00000082397⁷	OMIM: 605331⁵	UniProtKB: Q9Y2J2³

Export aliases for EPB41L3 gene to outside databases

Previous GC identifers: GC18P005437 GC18M005456

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for EPB41L3 Gene:

EPB41L3 (erythrocyte membrane protein band 4.1-like 3) is a protein-coding gene. Diseases associated with EPB41L3 include prostate cancer, progression and metastasis of, and prostate cancer, progression of. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is EPB41L5.

UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2

Function: Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein

arginine N-methyltransferases, including PRMT3 and PRMT5

Gene Wiki entry for EPB41L3 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000018.9 NT_010859.14 NC_018929.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EPB41L3 gene promoter:
Max1 p53 IRF-1 NF-AT S8 NF-AT4 NF-AT2 NF-AT3 NF-AT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EPB41L3 promoter sequence

Search SABiosciences Chromatin IP Primers for EPB41L3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.32 Ensembl cytogenetic band: 18p11.31 HGNC cytogenetic band: 18p11.32

EPB41L3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41L3 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18M005382: view genomic region (about GC identifiers)

Start:	5,392,383 bp from pter	End:	5,630,699 bp from pter
Size:	238,317 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2 (See protein sequence)

Recommended Name: Band 4.1-like protein 3

Size: 1087 amino acids; 120678 Da

Subunit: Interacts (via FERM domain) with CADM1. Interacts with PRMT3, PRMT5 and PRMT6

Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cell junction. Cell membrane; Peripheral membrane

protein; Cytoplasmic side. Cytoplasm. Note=Detected in the cytoplasm of actively dividing cells

Sequence caution: Sequence=AAC79806.1; Type=Frameshift; Positions=29, 59; Sequence=BAA76831.1; Type=Erroneous

initiation; Note=Translation N-terminally shortened;

2 PDB 3D structures from and Proteopedia for EPB41L3:

2HE7 (3D)

3BIN (3D)

Secondary accessions: O95713 Q9BRP5

Alternative splicing: 3 isoforms: Q9Y2J2-1 Q9Y2J2-2 Q9Y2J2-3

Explore the universe of human proteins at neXtProt for EPB41L3: NX_Q9Y2J2

Explore proteomics data for EPB41L3 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9Y2J2

EPB41L3 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (4 alternative transcripts):

NP_001268462.1 NP_001268463.1 NP_001268464.1 NP_036439.2

ENSEMBL proteins:

ENSP00000343158 ENSP00000442091 ENSP00000464570 ENSP00000462783 ENSP00000464533

ENSP00000462692 ENSP00000464020 ENSP00000464148 ENSP00000463122 ENSP00000461937

ENSP00000463289 ENSP00000462338 ENSP00000464336 ENSP00000463707 ENSP00000441174

ENSP00000341138 ENSP00000382981 ENSP00000392195 ENSP00000442233

Human Recombinant Protein Products for EPB41L3:

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	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for EPB41L3

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005856	cytoskeleton	IEA	--
GO:0005886	plasma membrane	NAS	9892180
GO:0005911	cell-cell junction	IDA	12234973
GO:0019898	extrinsic to membrane	IEA	--

EPB41L3 for ontologies About GeneDecksing

EPB41L3 Antibody Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5/14 InterPro protein domains (see all 14):

IPR019748 FERM_central

IPR018980 FERM_PH-like_C

IPR019750 Band_41_fam

IPR000798 Ez/rad/moesin_like

IPR019749 Band_41_domain

Graphical View of Domain Structure for InterPro Entry Q9Y2J2

ProtoNet protein and cluster: Q9Y2J2

2 Blocks protein domains:

IPB000299 Band 4.1 domain

IPB007477 SAB

UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2

Similarity: Contains 1 FERM domain

EPB41L3 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: E41L3_HUMAN, Q9Y2J2

Function: Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein

arginine N-methyltransferases, including PRMT3 and PRMT5

Genatlas biochemistry entry for EPB41L3:

erythrocyte surface protein 4.1-like 3,expressed in the brain

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005198	structural molecule activity	--	--
GO:0005200	structural constituent of cytoskeleton	TAS	--
GO:0005515	protein binding	IPI	12234973
GO:0008092	cytoskeletal protein binding	--	--

EPB41L3 for ontologies About GeneDecksing

Phenotypes:
8 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Epb4.1l3):

behavior/neurological	cellular	endocrine/exocrine gland	mortality/aging	nervous system
normal	reproductive system	tumorigenesis

EPB41L3 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for EPB41L3: Epb4.1l3^Epb4.tm1Sohn Epb4.1l3^{Epb4.tm1.1Jglt} Epb4.1l3^Epb4.tm1Jkis Epb4.1l3^{Epb4.tm1.1Bhat}

inGenious Targeting Laboratory - Custom generated mouse model solutions for EPB41L3

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EPB41L3

miRNA Products:
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		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L3 (see all 20):
		hsa-miR-3910 hsa-miR-181c hsa-miR-1271 hsa-let-7a-2* hsa-miR-488 hsa-miR-197 hsa-let-7g* hsa-miR-330-3p

		SwitchGear 3'UTR luciferase reporter plasmid: EPB41L3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for EPB41L3 About

See pathways by source

SuperPath

Contained pathways About

Tight junction

Tight junction

Pathways by source See SuperPaths
Show all pathways

1 Kegg Pathway (Kegg details for EPB41L3):

Tight junction

EPB41L3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for EPB41L3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/589 Interacting proteins for EPB41L3 (Q9Y2J2^{2, 3} ENSP00000341138⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 589)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAB	P31946²^,³, ENSP00000300161⁴	MINT-50963 I2D: score=5 STRING: ENSP00000300161
YWHAG	P61981²^,³, ENSP00000306330⁴	MINT-50838 I2D: score=5 STRING: ENSP00000306330
YWHAZ	P63104²^,³, ENSP00000309503⁴	MINT-51018 I2D: score=5 STRING: ENSP00000309503
SPTBN1	Q01082²^,³, ENSP00000349259⁴	MINT-7947479 I2D: score=2 STRING: ENSP00000349259
CNTNAP2	Q9UHC6³, ENSP00000354778⁴	I2D: score=4 STRING: ENSP00000354778

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002175	protein localization to paranode region of axon	ISS	--
GO:0006915	apoptotic process	IEA	--
GO:0007016	cytoskeletal anchoring at plasma membrane	TAS	--
GO:0008150	biological_process	ND	--
GO:0008360	regulation of cell shape	ISS	--

EPB41L3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EPB41L3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EPB41L3 (E41L3)

3 Novoseek inferred chemical compound relationships for EPB41L3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
5-aza-2'deoxycytidine	67.2	10	19115211 (1), 17260099 (1), 15837747 (1), 16205641 (1)
progesterone	15.4	3	11589430 (1), 11079777 (1)
thymidine	8.69	2	15116094 (1), 15688033 (1)

Search CenterWatch for drugs/clinical trials and news about EPB41L3 / E41L3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for EPB41L3 gene (4 alternative transcripts):

NM_001281533.1 NM_001281534.1 NM_001281535.1 NM_012307.3

Unigene Cluster for EPB41L3:

Erythrocyte membrane protein band 4.1-like 3

Hs.213394 [show with all ESTs]

Unigene Representative Sequence: AL832598

18/38 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 38):

ENST00000341928(uc010wze.1 uc010wzf.1 uc010wzg.1 uc010dkr.2 uc010wzh.1 uc002kmt.1 uc002kmu.1 uc010dkq.1)

ENST00000578618 ENST00000542652(uc002kms.1) ENST00000540638 ENST00000545076

ENST00000579951 ENST00000578524 ENST00000581292 ENST00000584055 ENST00000581387

ENST00000579271 ENST00000580647 ENST00000580316 ENST00000578196 ENST00000582729

ENST00000578395 ENST00000581661 ENST00000584670

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		SwitchGear 3'UTR luciferase reporter plasmid: EPB41L3 3' UTR sequence

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Additional mRNA sequence:

AB023204.1 AF069072.1 AF515797.1 AK090875.1 AK094952.1 AK128531.1 AK292583.1 AK294610.1

AK294690.1 AK295453.1 AK297406.1 AK303679.1 AK307751.1 AK307904.1 AK314438.1 AL832598.2

BC006141.1 BC008377.1 BC144531.1

21 DOTS entries:

DT.100811666 DT.100680879 DT.448097 DT.102839096 DT.91651680 DT.100811665 DT.100037099 DT.100760852

DT.121103773 DT.121103834 DT.95255086 DT.100746176 DT.91756598 DT.91756605 DT.97801097 DT.100675153

DT.102839110 DT.121103786 DT.121103787 DT.121103845 DT.86853288

24/188 AceView cDNA sequences (see all 188):

AA757612 AA495835 AA946867 AA321945 BQ718050 AI004767 AB023204 Z39205

AI298100 AW949363 AA961368 AI300230 BC006141 AA135872 BU170106 CA406389

BQ100946 BQ723106 BE790193 AV708582 CK824976 Z43119 BG655507 AK090875

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L3 (see all 18) About this scheme

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:									-		-		-

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:

ECgene alternative splicing isoforms for EPB41L3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EPB41L3 expression in normal human tissues (normalized intensities) EPB41L3 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTGAATGTAT

About this image

EPB41L3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/17 selected tissues (see all 17) fully expand


Cartilage (Muscoskeletal System) fully expand to see all 4 entries
"PureStem E15, Meso-prx/latp Progenitor"
HyStem+TGFbeta3+GDF5-induced E15 cells

Bone (Muscoskeletal System) fully expand to see all 4 entries
"PureStem 4D20.8, NCr-fac Progenitor"
HyStem+TGFbeta3+GDF5-induced E15 cells

Endothelium (Cardiovascular System) fully expand to see all 2 entries
PureStem endothelial progenitor RP1-MV2-18
colon ; endothelial cells

Placenta (Extraembryonic Tissues) fully expand to see all 2 entries
Syncytiotrophoblast-like cells (Generation of syncytiotrophoblast cells from human...
placenta ; trophoblastic cells

Brain (Nervous System) fully expand to see all 2 entries
Cerebral Cortex

See EPB41L3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EPB41L3

SOURCE GeneReport for Unigene cluster: Hs.213394

UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2

Tissue specificity: Expressed at high levels in brain, with lower levels in kidney, intestine, and testis. Detected in

lung

SABiosciences Custom PCR Arrays for EPB41L3

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for EPB41L3 gene from 7/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Epb4.1l3^{1 , 5}	erythrocyte protein band 4.1-like 3^{1, 5}	83.7(n)¹ 88.66(a)¹		17 (40.15 cM)⁵ 13823¹ NM_013813.1¹ NP_038841.1¹ 69156810⁵
chicken (Gallus gallus)	Aves	EPB41L3¹	erythrocyte membrane protein band 4.1-like 3	79.16(n) 83.66(a)		421055 XM_419142.3 XP_419142.3
lizard (Anolis carolinensis)	Reptilia	EPB41L3⁶	Uncharacterized protein	77(a)	1 ↔ 1	4(41795834-41872508)
African clawed frog (Xenopus laevis)	Amphibia	BC060449.1²	--	77.57(n)		BC060449.1
zebrafish (Danio rerio)	Actinopterygii	epb41l3a¹	erythrocyte membrane protein band 4.1-like 3a	63.37(n) 64.97(a)		445478 NM_001003987.1 NP_001003987.1
fruit fly (Drosophila melanogaster)	Insecta	cora³	cytoskeleton organization and biogenesis cytoskeletal more	60(a) (best of 2)		56C4 --
worm (Caenorhabditis elegans)	Secernentea	frm-3³	Band 4.1 family	33(a)		X(11611482-11616063) --

ENSEMBL Gene Tree for EPB41L3 (if available)
TreeFam Gene Tree for EPB41L3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for EPB41L3 gene

EPB41L5² EPB41² FRMD3² EPB41L1² PTPN3² EPB41L4B² FARP1² PTPN4²

FRMD5² FRMD7² EPB41L4A² FARP2² EPB41L2²

15 SIMAP similar genes for EPB41L3 using alignment to 16 protein entries: E41L3_HUMAN (see all proteins):

DKFZp564J1082 PTPN4 EPB41L2 EPB41L1 FARP1 FRMD5

EPB41L5 FARP2 EPB41L4B EPB41L4A EPB41 PTPN21

RDX FRMD3 MSN

EPB41L3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78898658^1,2	F	--	5381401(+)	`TGTAAG/ATTAGA`	1	--	ds500¹		1		WA	118
rs11873015^1,2	C,F,H	--	5381418(+)	`TTCAAA/CTTCAC`	1	--	ds500¹		3		NA WA	212
rs183460210^1,2		--	5381505(+)	`GAGATA/GGATAT`	1	--	ds500¹		0	--	--	--	--
rs150085500^1,2	C	--	5381529(+)	`GATGAC/TGGGGA`	1	--	ds500¹		0	--	--	--	--
rs11876359^1,2	C,F,H	--	5381531(+)	`TGACGG/CGGACA`	1	--	ds500¹		5		NA CSA WA EA	244
rs113786944^1,2	C	--	5381608(+)	`TTATTA/-AAAAA`	1	--	ds500¹		1		CSA	2
rs115398634^1,2	F	--	5381682(+)	`AAATAT/CTTAAA`	1	--	ds500¹		1		WA	118
rs73937118^1,2	C,F	--	5381746(+)	`CTGTAC/TACTCT`	1	--	ds500¹		1		WA	2
rs201341609^1,2		--	5381757(+)	`TGGGG-/TTTTTT`	1	--	ds500¹		0	--	--	--	--
rs58049247^1,2	C,F	--	5381798(+)	`CTACCG/ATGCAG`	1	--	ds500¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for EPB41L3 (5392383 - 5630699 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/12 variations for EPB41L3 (see all 12): About this table

Variant ID	Type	Subtype	PubMed ID
esv3439	CNV	Deletion	18987735
esv989108	CNV	Deletion	20482838
esv2666529	CNV	Deletion	23128226
esv2716715	CNV	Deletion	23290073
esv2671954	CNV	Deletion	23128226
esv2716717	CNV	Deletion	23290073
esv2716716	CNV	Deletion	23290073
esv2716719	CNV	Deletion	23290073
esv273358	CNV	Insertion	20981092
dgv53n6	CNV	Loss	16902084

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

EPB41L3 for disorders           About GeneDecksing

OMIM gene information: 605331    OMIM disorders: --

20/23 diseases for EPB41L3 (see all 23):    About MalaCards

prostate cancer, progression and metastasis of prostate cancer, progression of meninges hemangiopericytoma adenocarcinoma

benign meningioma hereditary elliptocytosis hemangiopericytoma meningioma

neurofibromatosis ependymoma renal clear cell carcinoma meningitis

lung adenocarcinoma prostate cancer non-small cell lung carcinoma lung cancer

ovarian cancer prostatitis schizophrenia breast cancer

10/13 Novoseek inferred disease relationships for EPB41L3 gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neurofibromatosis type 2	76.2	4	15674477 (1), 15542977 (1), 15535129 (1), 19429976 (1)
meningioma	75.7	39	19429976 (5), 10888600 (4), 15116094 (3), 15688033 (3), 16707455 (3), 11300722 (3), 12011257 (2), 11079777 (2), 15535129 (2), 11589430 (1), 15674477 (1), 12478663 (1), 16152585 (1) (see top 4)
benign meningioma	67.1	1	16707455 (1)
carcinoma non-small cell lung	55.3	4	9892180 (2), 15334060 (1), 10888600 (1)
adenocarcinoma	53.5	17	15837747 (2), 15116094 (1), 17415786 (1), 18554153 (1), 19846932 (1), 19624891 (1), 15517334 (1), 16205641 (1), 9892180 (1), 16420693 (1), 15334060 (1), 10888600 (1), 16707455 (1) (see top 4)
tumors	43.8	48	19429976 (5), 11300722 (4), 15837747 (3), 18554153 (2), 12478663 (2), 11079777 (2), 16205641 (2), 19624891 (2), 19115211 (2), 17260099 (2), 15116094 (1), 15688033 (1), 15517334 (1), 12234973 (1), 9892180 (1), 16152585 (1), 10888600 (1), 15535129 (1), 15334060 (1), 15542977 (1), 17415786 (1), 12011257 (1) (see top 4)
lung tumor	42.6	3	12234973 (2), 15837747 (1)
neoplastic transformation	38.8	1	15517334 (1)
brain tumors	38.6	4	16420693 (1), 10888600 (1)
nsclc	35.4	16	16205641 (5), 15837747 (3), 19624891 (3)

Genetic Association Database (GAD): EPB41L3
Human Genome Epidemiology (HuGE) Navigator: EPB41L3 (1 document)

Export disorders for EPB41L3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for EPB41L3 gene, integrated from 9 sources (see all 96):
(articles sorted by number of sources associating them with EPB41L3)

Utopia: connect your pdf to the dynamic
world of online information

A novel member of the NF2/ERM/4.1 superfamily with growth suppressing properties in lung cancer. (PubMed id 9892180)^{1, 2, 3, 9} Tran Y.K....Newsham I.F. (1999)
Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer. (PubMed id 12234973)^{1, 2, 9} Yageta M.... Murakami Y. (2002)
The tumor suppressor DAL-1/4.1B and protein methylation cooperate in inducing apoptosis in MCF-7 breast cancer cells. (PubMed id 16420693)^{1, 2, 9} Jiang W. and Newsham I.F. (2006)
DAL-1/4.1B tumor suppressor interacts with protein arginine N-methyltransferase 3 (PRMT3) and inhibits its ability to methylate substrates in vitro and in vivo. (PubMed id 15334060)^{1, 2, 9} Singh V....Newsham I.F. (2004)
Structural basis of tumor suppressor in lung cancer 1 (TSLC1) binding to differentially expressed in adenocarcinoma of the lung (DAL -1/4.1B). (PubMed id 21131357)^{1, 2} Busam R.D....Hallberg B.M. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (2010)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)^{1, 2} Nagase T.... Ohara O. (1999)
Four paralogous protein 4.1 genes map to distinct chromosomes in mouse and human. (PubMed id 9828140)^{1, 3} Peters L.L....Conboy J.G. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 23136	HGNC: 3380	AceView: EPB41L3	Ensembl:ENSG00000082397	euGenes: HUgn23136
ECgene: EPB41L3	Kegg: 23136	H-InvDB: EPB41L3

(According to HUGE)
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HUGE: KIAA0987

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for EPB41L3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for EPB41L3	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for EPB41L3 gene
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Patent Information for EPB41L3 gene:
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Erythrocyte Membrane Protein Band 4.1-Like 3

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EPB41L3 Gene

Erythrocyte Membrane Protein Band 4.1-Like 3

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