EPS8L2 - EPS8 like 2 Gene

Homo sapiens

Also known as EPS8R2; DFNB106

Gene ID: 64787 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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