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EPS8L2 - EPS8 like 2 Gene

Also Known as EPS8R2; DFNB106

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64787

About EPS8L2

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:706,231-727,727 (from NCBI)

This gene has 31 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 41.5), small intestine (RPKM 39.9) and 18 other tissues.

Summary

This gene encodes a member of the EPS8 gene family. The encoded protein, like Other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]

EPS8L2 Products (1)

mRNA	Protein	Name
NM_022772.4	NP_073609.2	epidermal growth factor receptor kinase substrate 8-like protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin binding	IDA IDA: Inferred from direct assay	14565974	GOA
contributes to guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	14565974	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14565974	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Rho protein signal transduction	IDA IDA: Inferred from direct assay	14565974	GOA
involved in positive regulation of ruffle assembly	IGI IGI: Inferred from genetic interaction	14565974	GOA
involved in regulation of Rho protein signal transduction	IDA IDA: Inferred from direct assay	14565974	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	14565974	GOA
located in ruffle membrane	IDA IDA: Inferred from direct assay	14565974	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPS8L2 Protein Structure

PTB

SH3_1

0
200
400
600
715 a.a.

Protein Preferred Names	Protein Names
epidermal growth factor receptor kinase substrate 8-like protein 2	EPS8-related protein 2

EPS8L2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EPS8L2	Q9H6S3	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	EPS8L2	Q9H6S3	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	EPS8L2	Q9H6S3	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	EPS8L2	Q9H6S3	DMWD	Homo sapiens	G5E9A7	Validated Y2H	32814053
Intra	EPS8L2	Q9H6S3	DMWD	Homo sapiens	G5E9A7	Y2H Array	32814053
Intra	EPS8L2	Q9H6S3	DMWD	Homo sapiens	G5E9A7	Y2H Pooling	32814053
Intra	EPS8L2	Q9H6S3	CTSD	Homo sapiens	P07339	Validated Y2H	32814053
Intra	EPS8L2	Q9H6S3	CTSD	Homo sapiens	P07339	Y2H Array	32814053
Intra	EPS8L2	Q9H6S3	CTSD	Homo sapiens	P07339	Y2H Pooling	32814053
Intra	EPS8L2	Q9H6S3	NEFL	Homo sapiens	P07196	Validated Y2H	32814053
Intra	EPS8L2	Q9H6S3	NEFL	Homo sapiens	P07196	Y2H Array	32814053
Intra	EPS8L2	Q9H6S3	NEFL	Homo sapiens	P07196	Y2H Pooling	32814053
Intra	EPS8L2	Q9H6S3	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	EPS8L2	Q9H6S3	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	EPS8L2	Q9H6S3	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	EPS8L2	Q9H6S3	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	EPS8L2	Q9H6S3	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	EPS8L2	Q9H6S3	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	EPS8L2	Q9H6S3	GRN	Homo sapiens	P28799	Y2H Array	32814053
Intra	EPS8L2	Q9H6S3	GRN	Homo sapiens	P28799	Y2H Pooling	32814053
Intra	EPS8L2	Q9H6S3	GRN	Homo sapiens	P28799	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

EPS8L2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810240	Eps8L2 Antibody (YA9584)	WB, ICC/IF, IF-Tissue, IP, ELISA	human
HY-P810994	EPS8L2 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 106	DFNB106 Deafness Autosomal Recessive 106 Deafness, Autosomal Recessive, 106
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Deafness, Autosomal Dominant 67	DFNA67 Autosomal Dominant Nonsyndromic Deafness 67 Autosomal Dominant Deafness 67 Deafness, Autosomal Dominant, 67 Deafness, Autosomal Dominant, Type 67
Deafness, Autosomal Recessive 102	DFNB102 Autosomal Recessive Nonsyndromic Deafness 102 Autosomal Recessive Deafness 102 Deafness, Autosomal Recessive, 102 Deafness, Autosomal Recessive, Type 102
Autosomal Dominant Nonsyndromic Deafness 74	Dfna74
Deafness, Autosomal Dominant 68	DFNA68 Autosomal Dominant Nonsyndromic Deafness 68 Autosomal Dominant Deafness 68 Deafness, Autosomal Dominant, 68
Deafness, Autosomal Dominant 44	DFNA44 Autosomal Dominant Nonsyndromic Deafness 44 Autosomal Dominant Deafness 44 Deafness, Autosomal Dominant, 44 Deafness, Autosomal Dominant, Type 44
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04456	EPS8L2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EPS8L2	VGNC	VGNC:61922
Rattus norvegicus	EPS8L2	RGD	RGD:1310912
Canis familiaris	EPS8L2	VGNC	VGNC:40429
Macaca mulatta	EPS8L2	VGNC	VGNC:72081
Mus musculus	EPS8L2	MGD	MGI:2138828
Bos taurus	EPS8L2	VGNC	VGNC:58372