PLEKHB2 - pleckstrin homology domain containing B2 Gene

Homo sapiens

Also known as EVT2

Gene ID: 55041 | Gene type: protein coding

About PLEKHB2

Cytogenetic location: 2q21.1 Genomic coordinates (GRCh38): 2:131,105,336-131,149,845 (from NCBI)

This gene has 12 transcripts (splice variants), 198 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 52.2), brain (RPKM 41.1) and 24 other tissues.

Summary

Enables phosphatidylinositol-3,4,5-trisphosphate binding activity. Predicted to be involved in regulation of cell differentiation. Predicted to be located in recycling endosome membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHB2 Products(13)

mRNA	Protein	Name
NM_001100623.2	NP_001094093.1	pleckstrin homology domain-containing family B member 2 isoform 3
NM_001267062.2	NP_001253991.1	pleckstrin homology domain-containing family B member 2 isoform 4
NM_001267063.2	NP_001253992.1	pleckstrin homology domain-containing family B member 2 isoform 5
NM_001267064.2	NP_001253993.1	pleckstrin homology domain-containing family B member 2 isoform 6
NM_001267065.2	NP_001253994.1	pleckstrin homology domain-containing family B member 2 isoform 7
NM_001267066.2	NP_001253995.1	pleckstrin homology domain-containing family B member 2 isoform 8
NM_001267067.2	NP_001253996.1	pleckstrin homology domain-containing family B member 2 isoform 9
NM_001267068.2	NP_001253997.1	pleckstrin homology domain-containing family B member 2 isoform 10
NM_001309448.2	NP_001296377.1	pleckstrin homology domain-containing family B member 2 isoform 11
NM_001309450.2	NP_001296379.1	pleckstrin homology domain-containing family B member 2 isoform 12
NM_001309451.2	NP_001296380.1	pleckstrin homology domain-containing family B member 2 isoform 13
NM_001309452.2	NP_001296381.1	pleckstrin homology domain-containing family B member 2 isoform 11
NM_017958.3	NP_060428.2	pleckstrin homology domain-containing family B member 2 isoform 2

PLEKHB2 Protein Structure

0
100
200
222 a.a.

Protein Preferred Names

Protein Names

pleckstrin homology domain-containing family B member 2

PH domain-containing family B member 2

Related Diseases

Diseases

Alias

Hypogonadotropic Hypogonadism 4 With Or Without Anosmia

HH4	Kallmann Syndrome 4
Kal4	Hypogonadotropic Hypogonadism, Type 4 With/Without Anosmia

Articulation Disorder

Phonological Disorder	Articulation Disorders
Articulation Impairment	Speech Sound Disorders

Vertebral Artery Insufficiency

Vertebral Artery Syndrome

Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome

Foxp1 Syndrome	Mental Retardation With Language Impairment And With Or Without Autistic Features
Foxp1 Related Global Developmental Delay, Intellectual Disability And Speech Defects	Intellectual Disability With Language Impairment And With Or Without Autistic Features

Speech And Communication Disorders

Language Disorder	Communication Disorder
Language Disorders	Communication Disorders
Speech Language Disorder	Speech-Language Disorder
Communication Impairment	Speech And Language Disorder

Speech Disorder

Speech Disorders

Stuttering

Stammering	Familial Persistent Stuttering
Stuttering, Familial Persistent 1

Specific Language Impairment

Language Impairment, Specific

Reading Disorder

Specific Reading Disorder	Reading
Dyslexia	Developmental Reading Disorder

Separation Anxiety Disorder

Separation Anxiety Disorder Of Childhood

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

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-RS10686	PLEKHB2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLEKHB2	RGD	RGD:1310954
Canis familiaris	PLEKHB2	VGNC	VGNC:44673
Mus musculus	PLEKHB2	MGD	MGI:2385825
Felis catus	PLEKHB2	VGNC	VGNC:64222
Bos taurus	PLEKHB2	VGNC	VGNC:33010

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