PLEKHG5 - pleckstrin homology and RhoGEF domain containing G5 Gene

Homo sapiens

Also known as Syx; Tech; DSMA4; CMTRIC; GEF720

Gene ID: 57449 | Gene type: protein coding

About PLEKHG5

Cytogenetic location: 1p36.31 Genomic coordinates (GRCh38): 1:6,466,092-6,520,092 (from NCBI)

This gene has 29 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in skin (RPKM 31.5), spleen (RPKM 14.2) and 15 other tissues.

Summary

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

PLEKHG5 Products(8)

mRNA	Protein	Name
NM_001042663.3	NP_001036128.2	pleckstrin homology domain-containing family G member 5 isoform c
NM_001042664.1	NP_001036129.1	pleckstrin homology domain-containing family G member 5 isoform a
NM_001042665.1	NP_001036130.1	pleckstrin homology domain-containing family G member 5 isoform a
NM_001265592.2	NP_001252521.2	pleckstrin homology domain-containing family G member 5 isoform c
NM_001265593.1	NP_001252522.1	pleckstrin homology domain-containing family G member 5 isoform e
NM_001265594.2	NP_001252523.1	pleckstrin homology domain-containing family G member 5 isoform f
NM_020631.6	NP_065682.2	pleckstrin homology domain-containing family G member 5 isoform a
NM_198681.4	NP_941374.3	pleckstrin homology domain-containing family G member 5 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

PLEKHG5 Protein Structure

RhoGEF

0
200
400
600
800
1000
1062 a.a.

Protein Preferred Names

Protein Names

pleckstrin homology domain-containing family G member 5

NFkB activating protein

Related Diseases

Diseases

Alias

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

DSMA4	Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset
Distal Spinal Muscular Atrophy Type 4	Autosomal Recessive Distal Spinal Muscular Atrophy Type 4
Distal Spinal Muscular Atrophy, Autosomal Recessive, 4	Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4

Charcot-Marie-Tooth Disease, Recessive Intermediate C

Charcot-Marie-Tooth Disease Recessive Intermediate C	CMTRIC
Ri-Cmtc	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C
Ri-Cmt Type C	Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C	Charcot-Marie-Tooth Neuropathy Recessive Intermediate C

Spinal Muscular Atrophy, Facioscapulohumeral Type

Fshsma

Juvenile Amyotrophic Lateral Sclerosis

Jals	Juvenile Charcot Disease
Juvenile Lou Gehrig Disease	Amyotrophic Lateral Sclerosis, Juvenile

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Charcot-Marie-Tooth Disease, Dominant Intermediate F

CMTDIF	Charcot-Marie-Tooth Disease Dominant Intermediate F
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F	Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Recessive Intermediate A

Charcot-Marie-Tooth Disease Recessive Intermediate A	CMTRIA
Ri-Cmta	Charcot-Marie-Tooth Disease, Recessive Intermediate, A
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A	Charcot-Marie-Tooth Neuropathy Recessive Intermediate A
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A	Ri-Cmt Type A
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A

Charcot-Marie-Tooth Disease, Dominant Intermediate E

CMTDIE	Charcot-Marie-Tooth Disease Dominant Intermediate E
Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E
Charcot-Marie-Tooth Disease-Nephropathy Syndrome	Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E

Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav	Distal Hereditary Motor Neuropathy Type V
Young Adult-Onset Distal Hereditary Motor Neuropathy	Neuronopathy, Distal Hereditary Motor, Type V
Distal Hereditary Motor Neuronopathy Type 5	Dhmn5
Distal Spinal Muscular Atrophy Type 5	HMN5A
Hmn5	Dhmn5a
Dhmn Va	Dsmava
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance	Distal Hmn V
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5	Dsma5
Young Adult-Onset Dhmn	Dhmn-V
Hmn V	Neuronopathy, Distal Hereditary Motor, Type 5a
Hmn 5a	Neuropathy, Distal Hereditary Motor, Type Va
Spinal Muscular Atrophy, Distal, Type Va	Spinal Muscular Atrophy, Distal, Type V
Distal Spinal Muscular Atrophy Type V	Distal Spinal Muscular Atrophy With Upper Limb Predominance
Distal Hereditary Motor Neuronopathy Type 5a	Distal Hmn Va
Distal Spinal Muscular Atrophy Type Va	Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuronopathy, Type V	Distal Spinal Muscular Atrophy, Type V
Spinal Muscular Atrophy, Distal Type V	Distal Hereditary Motor Neuropathy Type 5
Neuronopathy, Distal Hereditary Motor, 5a	Dhmn V
Distal Hereditary Motor Neuronopathy Type Va	Distal Hereditary Motor Neuropathy Type Va
Dsma-V	Hmn Va
Spinal Muscular Atrophy Distal Type V	Spinal Muscular Atrophy Distal Type Va
Spinal Muscular Atrophy Distal With Upper Limb Predominance	Neuropathy, Distal Hereditary Motor, Type V
Neuropathy, Motor, Distal, Hereditary, Type Va

Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Charcot-Marie-Tooth Disease, Axonal, Type 2q

Charcot-Marie-Tooth Disease Axonal Type 2q	CMT2Q
Charcot-Marie-Tooth Neuropathy, Type 2q	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q
Charcot-Marie-Tooth Neuropathy Type 2q	Charcot-Marie-Tooth Disease 2q
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q	Charcot-Marie-Tooth Neuropathy Axonal Type 2q

Charcot-Marie-Tooth Disease, Recessive Intermediate D

Charcot-Marie-Tooth Disease Recessive Intermediate D	CMTRID
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D	Ri-Cmt Type D
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, D

Charcot-Marie-Tooth Disease, Recessive Intermediate B

Charcot-Marie-Tooth Disease Recessive Intermediate B	CMTRIB
Ri-Cmtb	Charcot-Marie-Tooth Disease, Recessive Intermediate, B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B	Charcot-Marie-Tooth Neuropathy Recessive Intermediate B
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B	Ri-Cmt Type B
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Distal Hereditary Motor Neuronopathy Type 7

Dhmn7	Dhmnvpy
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Spinal Muscular Atrophy, Type Iv

SMA4	Spinal Muscular Atrophy, Adult Form
Spinal Muscular Atrophy 4	Spinal Muscular Atrophy-4
Adult Spinal Muscular Atrophy	Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
Proximal Spinal Muscular Atrophy Type 4	Sma Type 4
Sma Type Iv	Sma-Iv
Sma Iv	Spinal Muscular Atrophy Adult Form
Spinal Muscular Atrophy Proximal Adult Autosomal Recessive	Spinal Muscular Atrophy Type Iv
Atrophy, Muscular, Spinal, Type Iv	Myelopathic Muscular Atrophy

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Charcot-Marie-Tooth Disease, Dominant Intermediate B

CMTDIB	Charcot-Marie-Tooth Disease Dominant Intermediate B
Di-Cmtb	Cmtdi1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m	Charcot-Marie-Tooth Neuropathy Dominant Intermediate B
CMT2M	Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Axonal Type 2m	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Charcot-Marie-Tooth Disease 2m	Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m
Charcot-Marie-Tooth Disease Axonal Type 2m	Charcot-Marie-Tooth Neuropathy Axonal Type 2m
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B	Charcot-Marie-Tooth Disease, Axonal, Type 2m
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Developmental And Epileptic Encephalopathy 12

Epileptic Encephalopathy, Early Infantile, 12	DEE12
Eiee12	Early Infantile Epileptic Encephalopathy 12
Developmental And Epileptic Encephalopathy, 12	Encephalopathy, Epileptic, Early Infantile, Type 12

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I	OI1
Oi, Type I	Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta With Blue Sclerae	Osteogenesis Imperfecta Type 1
Adair-Dighton Syndrome	Mild Osteogenesis Imperfecta
Non-Deforming Osteogenesis Imperfecta	Oi Type 1
Van Der Hoeve Syndrome	Classic Non-Deforming Oi With Blue Sclerae
Osteogenesis Imperfecta 1	Oi-I
Osteopenic Non-Fracture Syndrome	Osteogenesis Imperfecta, Mild
Osteogenesis Imperfecta	Lobstein'S Disease

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii	Distal Hereditary Motor Neuropathy Type 2
Distal Hereditary Motor Neuropathy Type Ii	Hmn Ii
Hmn2	Distal Hereditary Motor Neuronopathy, Type Ii
Distal Spinal Muscular Atrophy Type 2	Dhmn2
Dsma2	Neuropathy, Motor, Distal, Hereditary, Type Ii
Spinal Muscular Atrophy, Jerash Type

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

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-RS10693	PLEKHG5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PLEKHG5	VGNC	VGNC:64231
Mus musculus	PLEKHG5	MGD	MGI:2652860
Macaca mulatta	PLEKHG5	VGNC	VGNC:76130
Bos taurus	PLEKHG5	VGNC	VGNC:33018
Rattus norvegicus	PLEKHG5	RGD	RGD:1303132
Canis familiaris	PLEKHG5	VGNC	VGNC:44680

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