2. Gene
  3. CHMP4B - charged multivesicular body protein 4B Gene

CHMP4B - charged multivesicular body protein 4B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SNF7; CTPP3; Shax1; CHMP4A; SNF7-2; VPS32B; CTRCT31; Vps32-2; C20orf178; dJ553F4.4

Gene ID: 128866 | Gene type: protein coding

About CHMP4B

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:33,811,348-33,854,366 (from NCBI)

This gene has 1 transcript (splice variant), 300 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 76.6), bone marrow (RPKM 71.5) and 25 other tissues.

Summary

This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These Polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]

CHMP4B Products(1)

mRNA Protein Name
NM_176812.5 NP_789782.1 charged multivesicular body protein 4b

CHMP4B Protein Structure

Snf7

Snf7: Snf7 (24 - 198)

  • 0
  • 100
  • 200
  • 224 a.a.
Protein Preferred Names Protein Names

charged multivesicular body protein 4b

SNF7 homolog associated with Alix 1

Related Diseases

Diseases Alias
Cataract 31, Multiple Types

Cataract, Posterior Polar, 3

Ctpp3

Cataract 31 Multiple Types

CTRCT31

Cpp3

Posterior Polar Cataract 3

Cataract, Type 31, Multiple Types
Early-Onset Posterior Subcapsular Cataract
Early-Onset Posterior Polar Cataract
Cataract 32, Multiple Types

Cataract, Posterior Polar, 5

Ctpp5

CTRCT32

Ctaa1

Cataract, Anterior Polar

Cap

Cataract 32 Multiple Types

Cataract, Anterior Polar, 1

Anterior Polar Cataract 1

Posterior Polar Cataract 5

Cataract, Anterior Polar 1
Posterior Polar Cataract

Cataract, Posterior Polar
Cataract 16, Multiple Types

Cataract 16 Multiple Types

CTRCT16

Ctpp2

Cataract, Posterior Polar, 2

Posterior Polar Cataract 2

Cataract, Congenital Lamellar

Congenital Lamellar Cataract
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia
Cataract 11, Multiple Types

Cataract, Posterior Polar, 4

Ctpp4

Cpp4

Cataract 11 Multiple Types

CTRCT11

Cataract 11, Syndromic, Autosomal Recessive

Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities

Posterior Polar Cataract 4

Posterior Polar Cataract, 4

Cataract Posterior Polar 4

Syndromic Cataract 11

Cataract, Type 11, Multiple Types
Ayme-Gripp Syndrome

AYGRP

Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation

Aymé-Gripp Syndrome

Fine-Lubinsky Syndrome

Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome

Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome
Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia
Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3
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-RS02644 CHMP4B Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta CHMP4B VGNC VGNC:84577
Felis catus CHMP4B VGNC VGNC:80064
Mus musculus CHMP4B MGD MGI:1922858
Bos taurus CHMP4B VGNC VGNC:56180
Rattus norvegicus CHMP4B RGD RGD:1309846
Canis familiaris CHMP4B VGNC VGNC:54643
Others CHMP4B NCBI