Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

WBP4

contributors: mct/npt - updated : 27-02-2024

HGNC name	WW domain binding protein 4 (formin binding protein 21)
HGNC id	12739

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MHGDDDF muscular hypotonia, global developmental delay, dysmorphic facial features
Location	13q14.11      Physical location : 41.635.696 - 41.658.137
Synonym name	formin binding protein 21
	domain-containing binding protein 4
Synonym symbol(s)	FBP21, MGC117310, FNBP21, WBP-4

DNA

TYPE	functioning gene
STRUCTURE	22.44 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_007187 10 - 2660 NP_009118 - 376 - 2017 28838205

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 Nervous brain       highly Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a matrin-type zinc finger (Huang 2009)
	two tandem WW domains with Pro-Arg motif often overlaping with SH3 domain motifs within protein sequences (Bedford 2000)

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	colocalizes with the essential splicing factor SFRS2 in the nuclear speckles, which contain numerous pre-mRNA splicing factors (Huang 2009)

basic FUNCTION	activator of pre-mRNA splicing (Huang 2009)
	may be playing a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomes (Huang 2009)
	may also be implicated in the coordination of transcription and pre-mRNA splicing via its tandem WW domains (Huang 2009)
	important for the splicing of pre-mRNA in the nucleus of eukaryotic cells
	among the spliceosome proteins, WBP4 is part of a group that plays a critical role in splice-site selection, and is important for spliceosomal activation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the U2 snRNP complex of the spliceosomes (Huang 2009)
	is part of the early spliceosomal complex

INTERACTION

DNA

RNA

small molecule

protein	interacting with KHDRBS1, through its WW domain (Bedford 2000)
	interacting with WBP11 (significantly, its tandem WW domains are connected by a highly flexible region, enabling their simultaneous interaction with two proline-rich motifs of SIPP1) (Huang 2009)
	tandem-WW domains of WBP4 to interact with splicing factor 3B4 (SF3B4) in nuclear speckles where splicing takes place
	WBP4 is a novel key player in the regulation of SNRNP200
	FBP21 regulates SNRNP200 helicase activity involved in the activation of the spliceosomal B-complex

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MHGDDDF

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function LOF WBP11 and WBP4 variants should be considered as a possible cause of VACTERL association

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS