SH3GL3 - SH3 domain containing GRB2 like 3, endophilin A3 Gene

Homo sapiens

Also known as CNSA3; EEN-B2; SH3D2C; SH3P13; HsT19371

Gene ID: 6457 | Gene type: protein coding

About SH3GL3

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:83,447,341-83,633,820 (from NCBI)

This gene has 6 transcripts (splice variants), 236 orthologues and 12 paralogues. Biased expression in testis (RPKM 8.3), brain (RPKM 5.2) and 1 other tissue.

Summary

Enables identical protein binding activity. Predicted to be involved in synaptic vesicle uncoating. Predicted to be located in acrosomal vesicle; early endosome membrane; and presynapse. Predicted to be part of early endosome. Predicted to be active in glutamatergic synapse; postsynaptic density, intracellular component; and postsynaptic endosome. [provided by Alliance of Genome Resources, Apr 2022]

SH3GL3 Products(9)

mRNA	Protein	Name
NM_001301108.2	NP_001288037.1	endophilin-A3 isoform b
NM_001301109.2	NP_001288038.1	endophilin-A3 isoform c
NM_001324182.2	NP_001311111.1	endophilin-A3 isoform d
NM_001324183.2	NP_001311112.1	endophilin-A3 isoform c
NM_001324184.2	NP_001311113.1	endophilin-A3 isoform e
NM_001324185.2	NP_001311114.1	endophilin-A3 isoform b
NM_001324186.2	NP_001311115.1	endophilin-A3 isoform e
NM_001324187.1	NP_001311116.1	endophilin-A3 isoform b
NM_003027.5	NP_003018.3	endophilin-A3 isoform a

SH3GL3 Protein Structure

BAR

SH3_9

0
100
200
300
347 a.a.

Protein Preferred Names

Protein Names

endophilin-A3

SH3 domain containing GRB2 like endophilin A3

Related Diseases

Diseases

Alias

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe Syndrome

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-RS12838	SH3GL3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SH3GL3	VGNC	VGNC:65108
Bos taurus	SH3GL3	VGNC	VGNC:34574
Mus musculus	SH3GL3	MGD	MGI:700011
Canis familiaris	SH3GL3	VGNC	VGNC:46126
Rattus norvegicus	SH3GL3	RGD	RGD:620578
Macaca mulatta	SH3GL3	VGNC	VGNC:77205

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