2. Gene
  3. PLEKHB2 - pleckstrin homology domain containing B2 Gene

PLEKHB2 - pleckstrin homology domain containing B2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
IDA: Inferred from direct assay
11001876 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 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

PLEKHB2 Protein Structure

PH

PH: PH domain (4 - 105)

  • 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 Pre-designed Sets / 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