GEMIN5 - gem nuclear organelle associated protein 5 Gene

Homo sapiens

Also known as NEDCAM; GEMIN-5

Gene ID: 25929 | Gene type: protein coding

About GEMIN5

Cytogenetic location: 5q33.2 Genomic coordinates (GRCh38): 5:154,887,411-154,938,211 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 4.9), ovary (RPKM 4.6) and 25 other tissues.

Summary

This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

GEMIN5 Products(2)

mRNA	Protein	Name
NM_001252156.2	NP_001239085.1	gem-associated protein 5 isoform 2
NM_015465.5	NP_056280.2	gem-associated protein 5 isoform 1

GEMIN5 Protein Structure

WD40

0
300
600
900
1200
1508 a.a.

Protein Preferred Names

Protein Names

gem-associated protein 5

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction

NEDCAM

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy

Spinal Muscular Atrophy, Type Ii

SMA2	Sma Ii
Muscular Atrophy, Spinal, Intermediate Type	Muscular Atrophy, Spinal, Infantile Chronic Form
Intermediate Spinal Muscular Atrophy	Spinal Muscular Atrophy Type Ii
Spinal Muscular Atrophy-2	Spinal Muscular Atrophy 2
Spinal Muscular Atrophy Type 2	Dubowitz Disease
Proximal Spinal Muscular Atrophy Type 2	Sma Type 2
Sma Type Ii	Sma-Ii
Spinal Muscular Atrophy Infantile Chronic Form	Spinal Muscular Atrophy Intermediate Type
Spinal Muscular Atrophies Of Childhood	Atrophy, Muscular, Spinal, Type Ii
Muscular Atrophy, Spinal, Type Ii

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1	PCH1E
Norman Disease	Pch1
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease	Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
Pontocerebellar Hypoplasia Type 1e	Pontocerebellar Hypoplasia 1e
Doid:0112322	Doid:0112330

Spinal Muscular Atrophy, Type Iii

SMA3	Juvenile Spinal Muscular Atrophy
Kugelberg-Welander Disease	Sma Iii
Kugelberg-Welander Syndrome	Kws
Muscular Atrophy, Juvenile	Spinal Muscular Atrophy, Mild Childhood And Adolescent Form
Spinal Muscular Atrophy-3	Spinal Muscular Atrophy Type 3
Spinal Muscular Atrophy, Type Iii, Modifier Of	Type Iii Spinal Muscular Atrophy
Sma 3	Proximal Spinal Muscular Atrophy Type 3
Sma Type 3	Sma Type Iii
Sma-Iii	Spinal Muscular Atrophy 3
Spinal Muscular Atrophy Mild Childhood And Adolescent Form	Spinal Muscular Atrophy Type Iii
Wohlfart-Kugelberg-Welander Disease	Atrophy, Muscular, Spinal, Type Iii

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-RS05369	GEMIN5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GEMIN5	VGNC	VGNC:29318
Mus musculus	GEMIN5	MGD	MGI:2449311
Rattus norvegicus	GEMIN5	RGD	RGD:1586275
Macaca mulatta	GEMIN5	VGNC	VGNC:72751
Canis familiaris	GEMIN5	VGNC	VGNC:41175
Felis catus	GEMIN5	VGNC	VGNC:62515

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