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FLASH GENE

Symbol

CHMP4B

contributors: mct - updated : 08-03-2019

HGNC name	chromatin modifying protein 4B
HGNC id	16171

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CTPP3 cataract, posterior polar (subcapsular) 3
Location	20q11.22      Physical location : 32.399.109 - 32.442.173
Synonym name	chromosome 20 open reading frame 178
	Snf7 homologue associated with Alix 1
	charged multivesicular body protein 4b
Synonym symbol(s)	dJ553F4.4, Shax1, CHMP4A, SNF7-2, C20orf178, VPS32B, CTPP3, CTRCT31, SNF7 Vps32-2,

DNA

TYPE	functioning gene
STRUCTURE	43.05 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_176812 5 - 1664 NP_789782 - 224 - 2003 12860994

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly   stomach       moderately Endocrine pancreas       highly Hearing/Equilibrium ear inner cochlea   highly Lymphoid/Immune lymph node       highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal basically charged region
	a smaller C-terminal acidic region, which are highly conserved in all eukaryotes

HOMOLOGY

interspecies	homolog to murine LOC228808
	homolog to rattus Rn.6958
	homolog to C.elegans C56C10.3
	ortholog to yeast Snf7/Vps32 (sucrose non-fermenting-7 or vacuolar protein sorting-32)

Homologene

FAMILY	SNF7 family
	chromatin-modifying protein/charged multivesicular body protein (CHMP) family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,nucleus,chromatin/chromosome,kinetochore
	intracellular,nuclear envelope
text	throughout the cytoplasm and/or in association with endosome-like compartments
	localize to kinetochores
	not only localizes to normal cytokinetic bridges but also to chromosome bridges and micronuclei, the latter surrounded by lysosomes and autophagosomes

basic FUNCTION	participating in formation of multivesicular bodies by cooperating with VPS4A
	required for multivesicular bodies (MVBs)
	formation and sorting of endosomal cargo proteins into MVBs
	with CHMP4A, form novel membrane-attached filaments that can promote or stabilize negative curvature and outward budding
	with CHMP6, CHMP4A, CHMP4C, VPS24, are sufficient to detach intralumenal vesicles
	through its association with chromatin, may participate in the autophagolysosomal degradation of micronuclei and other extranuclear chromatin
	core component of the endosomal sorting complex required for transport (ESCRT)-III, and is requisite for endosomal sorting and other biological processes
	CHMP4B may play a role in promoting the brain damage following intracerebral hemorrhage (ICH)
	ESCRT-III subunit CHMP4B is a key effector in abscission, the final stage of cell division

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the endosomal sorting required for transport complex III (ESCRT-III), at least composed of CHMP1A, CHMP1B, CHMP2A, CHMP2B, CHMP3/VPS24, CHMP4A/SHAX2, CHMP4B/SHAX1, CHMP4C/SHAX3, CHMP5/SNF7DC2 and CHMP6

INTERACTION

DNA

RNA

small molecule

protein	interacting with VPS4A
	major binding partner of Alix (PDCD6IP) among the three CHMP4 isoforms
	interacting with PIAS2, HIPK2, EXOSC9, CC2D1A
	interacting with farnesylated Bro1 domain-containing protein BROX
	CC2D1A is a novel regulator of ESCRT-III CHMP4B function
	interactions between CDCA8 and CHMP2A, CHMP4B, CHMP4C, and CHMP6

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CTPP3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS