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

    Gene ID: 23360, updated on 28-Oct-2024

    Summary

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    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
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    Genomic context

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    See FNBP4 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47716494..47767341, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47881502..47932306, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    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. WW domain-containing FBP-30 is regulated by p53. Depraetere V, et al. Cell Death Differ, 1999 Sep. PMID 10510470
    5. Formin-binding proteins: modulators of formin-dependent actin polymerization. Aspenström P. Biochim Biophys Acta, 2010 Feb. PMID 19589360

    See all (58) 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

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    Preferred Names
    formin-binding protein 4
    Names
    formin-binding protein 30

    NCBI Reference Sequences (RefSeq)

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    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_2024_08

    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.

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