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EPB41L3 Gene

protein-coding GIFtS: 66
GCID: GC18M005382

Erythrocyte Membrane Protein Band 4.1-Like 3

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at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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

ORGUL members:

Export aliases for EPB41L3 gene to outside databases

Previous GC identifers: GC18P005437 GC18M005456

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EPB41L3 Gene:

EPB41L3 (erythrocyte membrane protein band 4.1-like 3) is a protein-coding gene. Diseases associated with EPB41L3 include cancer progression/metastasis, and adenocarcinoma. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000018.10 NT_010859.15 NC_018929.2

Regulatory elements:

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 Chromatin IP Primers for EPB41L3

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

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:

Ubiquitination² at Lys75, Lys138, Lys162, Lys336, Lys397, Lys398, Lys405

Modification sites at PhosphoSitePlus

See EPB41L3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

EPB41L3 Human Recombinant Protein Products:

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	Novus Biologicals EPB41L3 Proteins Novus Biologicals EPB41L3 Lysate
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	Cloud-Clone Corp. Proteins for EPB41L3

EPB41L3 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of EPB41L3
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EPB41L3 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	Cloud-Clone Corp. ELISAs for EPB41L3 Cloud-Clone Corp. CLIAs for EPB41L3

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected 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, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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: 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:
MGI 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: Let us create your new Knockout/Knockin mouse model for EPB41L3

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miRNA Products:		miRTarBase miRNAs that target EPB41L3: hsa-mir-92a-3p (MIRT049330), hsa-mir-223-3p (MIRT006374), hsa-mir-877-3p (MIRT037171), hsa-let-7b-5p (MIRT051992)

		Block miRNA regulation of human, mouse, rat EPB41L3 using miScript Target Protectors
		Selected qRT-PCR 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

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L3

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

E41L3_HUMAN, Q9Y2J2: Cytoplasm, cytoskeleton (By similarity). Cell junction. Cell membrane; Peripheral membrane

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

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	5
cytosol	3
cytoskeleton	2
extracellular	1
mitochondrion	1
nucleus	1

About this image

Gene Ontology (GO): Selected cellular component terms (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 component of membrane	IEA	--

EPB41L3 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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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

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for EPB41L3
Interactions:

GeneGlobe Interaction Network for EPB41L3

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

Selected 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

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Gene Ontology (GO): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

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)

EPB41L3 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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

Selected 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

miRNA Products:		Block miRNA regulation of human, mouse, rat EPB41L3 using miScript Target Protectors
		Selected qRT-PCR 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

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		GenScript: all cDNA clones in your preferred vector: EPB41L3 (NM_012307)
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		QuantiFast Probe-based Assays in human, mouse, rat EPB41L3

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

Selected AceView cDNA sequences (see all 188):

CK824976 AA137177 CD671393 AA757612 AI089001 BQ100946 CA397120 BG655507

Z43119 BE790193 AI300230 Z39205 AA946867 BU734855 BM310084 AA969754

AL832598 CA406389 BQ723106 BQ721327 AA321945 BQ718050 BC006141 AA495835

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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EPB41L3 expression in normal human tissues (normalized intensities)
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
selected tissues (see all 17) fully expand


Eye (Sensory Organs) fully expand to see all 2 entries
GABAergic Amacrine Cells Inner Nuclear Layer

Neurons
GABAergic Amacrine Cells Inner Nuclear Layer

Blood (Hematopoietic System) fully expand to see all 2 entries
Hematopoietic Stem Cells Hematopoietic Bone Marrow

Lateral Plate Mesoderm (Gastrulation Derivatives) fully expand to see all 2 entries
PureStem E15, Meso-prx/latp Progenitor

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

EPB41L3 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

EPB41L3 Protein Expression

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

Custom PCR Arrays for EPB41L3

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		QuantiFast Probe-based Assays in human, mouse, rat EPB41L3

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)
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This gene was present in the common ancestor of animals.

Orthologs for EPB41L3 gene from Selected 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}	83.35(n)¹ 88.12(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	78.95(n) 83(a)		421055 XM_419142.4 XP_419142.4
lizard (Anolis carolinensis)	Reptilia	EPB41L3⁶	erythrocyte membrane protein band 4.1-like 3	77(a)	1 ↔ 1	4(41795834-41872508)
African clawed frog (Xenopus laevis)	Amphibia	BC060449.1²	--	77.57(n)		BC060449.1
zebrafish (Danio rerio)	Actinopterygii	epb41l3b¹	erythrocyte membrane protein band 4.1-like 3b	63.38(n) 66.58(a)		407981 NM_214812.1 NP_999977.1
fruit fly (Drosophila melanogaster)	Insecta	cora³	cytoskeleton organization and biogenesis cytoskeletal more	60(a) (best of 2)		56C4 --

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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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) Selected 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

Human Gene Mutation Database (HGMD): EPB41L3

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing EPB41L3

DNA2.0 Custom Variant and Variant Library Synthesis for EPB41L3

(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.)
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OMIM gene information: 605331 OMIM disorders: --

Selected diseases for EPB41L3 (see all 26):
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cancer progression/metastasis adenocarcinoma meninges hemangiopericytoma benign meningioma

hereditary elliptocytosis prostate cancer, progression and metastasis of hemangiopericytoma meningioma

neurofibromatosis renal clear cell carcinoma ependymoma meningitis

prostate cancer lung adenocarcinoma prostatitis lung cancer

ataxia atherosclerosis breast cancer schizophrenia

EPB41L3 for disorders About GeneDecksing

Selected 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)
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PubMed articles for EPB41L3 gene, integrated from 10 sources (see all 98):
(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. (Cancer Res. 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. (Cancer Res. 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. (Mol. Cancer 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. (Oncogene 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. (J. Biol. Chem. 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. (Mol. Med. 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. (Nat. Biotechnol. 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. (Genome Res. 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. (DNA Res. 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. (Genomics 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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and 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
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for EPB41L3 gene:
Search GeneIP for patents involving EPB41L3

GeneCards and IP:
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EPB41L3 Gene

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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