U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FNBP4 formin binding protein 4 [ Homo sapiens (human) ]

Gene ID: 23360, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
FNBP4provided by HGNC
Official Full Name
formin binding protein 4provided by HGNC
Primary source
HGNC:HGNC:19752
See related
Ensembl:ENSG00000109920 MIM:615265; AllianceGenome:HGNC:19752
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FBP30
Summary
This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]
Expression
Ubiquitous expression in spleen (RPKM 13.0), lymph node (RPKM 11.6) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
11p11.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47716494..47767341, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47881502..47932306, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47738046..47788893, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3336 Neighboring gene mitochondrial carrier 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3337 Neighboring gene Sharpr-MPRA regulatory region 12296 Neighboring gene AGBL carboxypeptidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47787258-47788183 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47788184-47789108 Neighboring gene nucleoporin 160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47834932-47835432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47835433-47835933 Neighboring gene RNA, 5S ribosomal pseudogene 340 Neighboring gene YPEL5 pseudogene 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Computational analyses of the length and compositional variations of the FNBP4 gene across 10 different species. Das A, et al. Gene, 2016 Jan 10. PMID 26456197
  2. In-silico characterization of Formin Binding Protein 4 Family of proteins. Das A, et al. Interdiscip Sci, 2015 Mar. PMID 25183348
  3. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. Kondo Y, et al. Am J Med Genet A, 2013 Jul. PMID 23703728
  4. Formin-binding proteins: modulators of formin-dependent actin polymerization. Aspenström P. Biochim Biophys Acta, 2010 Feb. PMID 19589360
  5. WW domain-containing FBP-30 is regulated by p53. Depraetere V, et al. Cell Death Differ, 1999 Sep. PMID 10510470

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A c.683C>T (p.Thr228Met) mutation in FNBP4 was found as a primary candidate to microphthalmia with limb anomalies
    Title: Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ41904, KIAA1014, DKFZp779I1064, DKFZp686M14102

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

Go to the top of the page Help
Preferred Names
formin-binding protein 4
Names
formin-binding protein 30

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053146.1 RefSeqGene

    Range
    5138..55985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318339.3 → NP_001305268.1  formin-binding protein 4 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB023231, AC021443, AI434014, DA238225, HY166173
    UniProtKB/TrEMBL
    B3KNP0
    Conserved Domains (2) summary
    cd00201
    Location:600 → 631
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:221 → 248
    WW; WW domain

  2. NM_015308.5 → NP_056123.2  formin-binding protein 4 isoform 2

    See identical proteins and their annotated locations for NP_056123.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC021443, AI434014, AK054636, BC037404, DB458472
    Consensus CDS
    CCDS41644.1
    UniProtKB/Swiss-Prot
    Q8N3X1, Q9H985, Q9NT81, Q9Y2L7
    UniProtKB/TrEMBL
    B3KNP0
    Related
    ENSP00000263773.5, ENST00000263773.10
    Conserved Domains (2) summary
    cd00201
    Location:598 → 629
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:219 → 246
    WW; WW domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    47716494..47767341 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426655.1 → XP_047282611.1  formin-binding protein 4 isoform X7

  2. XM_047426658.1 → XP_047282614.1  formin-binding protein 4 isoform X10

  3. XM_047426651.1 → XP_047282607.1  formin-binding protein 4 isoform X1

  4. XM_047426652.1 → XP_047282608.1  formin-binding protein 4 isoform X2

  5. XM_047426654.1 → XP_047282610.1  formin-binding protein 4 isoform X6

  6. XM_047426653.1 → XP_047282609.1  formin-binding protein 4 isoform X5

  7. XM_047426657.1 → XP_047282613.1  formin-binding protein 4 isoform X9

  8. XM_024448409.2 → XP_024304177.1  formin-binding protein 4 isoform X4

    Conserved Domains (2) summary
    cd00201
    Location:600 → 631
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:221 → 248
    WW; WW domain

  9. XM_024448408.2 → XP_024304176.1  formin-binding protein 4 isoform X3

    Conserved Domains (2) summary
    cd00201
    Location:600 → 631
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:221 → 248
    WW; WW domain

  10. XM_047426656.1 → XP_047282612.1  formin-binding protein 4 isoform X8

RNA

  1. XR_007062464.1 RNA Sequence

  2. XR_930855.3 RNA Sequence

  3. XR_007062466.1 RNA Sequence

  4. XR_002957136.2 RNA Sequence

  5. XR_007062465.1 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_019805496.1 Reference GRCh38.p14 PATCHES

    Range
    148861..199708 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332411.1 → XP_054188386.1  formin-binding protein 4 isoform X7

  2. XM_054332414.1 → XP_054188389.1  formin-binding protein 4 isoform X10

  3. XM_054332405.1 → XP_054188380.1  formin-binding protein 4 isoform X1

  4. XM_054332406.1 → XP_054188381.1  formin-binding protein 4 isoform X2

  5. XM_054332407.1 → XP_054188382.1  formin-binding protein 4 isoform X3

  6. XM_054332410.1 → XP_054188385.1  formin-binding protein 4 isoform X6

  7. XM_054332409.1 → XP_054188384.1  formin-binding protein 4 isoform X5

  8. XM_054332408.1 → XP_054188383.1  formin-binding protein 4 isoform X4

  9. XM_054332413.1 → XP_054188388.1  formin-binding protein 4 isoform X9

  10. XM_054332412.1 → XP_054188387.1  formin-binding protein 4 isoform X8

RNA

  1. XR_008485766.1 RNA Sequence

  2. XR_008485765.1 RNA Sequence

  3. XR_008485769.1 RNA Sequence

  4. XR_008485768.1 RNA Sequence

  5. XR_008485767.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    47881502..47932306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368199.1 → XP_054224174.1  formin-binding protein 4 isoform X7

  2. XM_054368202.1 → XP_054224177.1  formin-binding protein 4 isoform X10

  3. XM_054368193.1 → XP_054224168.1  formin-binding protein 4 isoform X1

  4. XM_054368194.1 → XP_054224169.1  formin-binding protein 4 isoform X2

  5. XM_054368195.1 → XP_054224170.1  formin-binding protein 4 isoform X3

  6. XM_054368198.1 → XP_054224173.1  formin-binding protein 4 isoform X6

  7. XM_054368197.1 → XP_054224172.1  formin-binding protein 4 isoform X5

  8. XM_054368201.1 → XP_054224176.1  formin-binding protein 4 isoform X9

  9. XM_054368196.1 → XP_054224171.1  formin-binding protein 4 isoform X4

  10. XM_054368200.1 → XP_054224175.1  formin-binding protein 4 isoform X8

RNA

  1. XR_008488370.1 RNA Sequence

  2. XR_008488369.1 RNA Sequence

  3. XR_008488373.1 RNA Sequence

  4. XR_008488372.1 RNA Sequence

  5. XR_008488371.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N3X1.3 GenPept UniProtKB/Swiss-Prot:Q8N3X1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous