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FGFR1OP2 FGFR1 oncogene partner 2 [ Homo sapiens (human) ]

Gene ID: 26127, updated on 5-Mar-2024

Summary

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Official Symbol
FGFR1OP2provided by HGNC
Official Full Name
FGFR1 oncogene partner 2provided by HGNC
Primary source
HGNC:HGNC:23098
See related
Ensembl:ENSG00000111790 MIM:608858; AllianceGenome:HGNC:23098
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WIT3.0; HSPC123-like
Summary
Predicted to enable identical protein binding activity. Predicted to be involved in response to wounding. Predicted to act upstream of or within wound healing. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 23.0), adrenal (RPKM 22.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12p11.23
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (26938470..26966648)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (26810479..26838658)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (27091403..27119581)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene inositol 1,4,5-trisphosphate receptor type 2 Neighboring gene enoyl-CoA hydratase domain containing 2 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4305 Neighboring gene Sharpr-MPRA regulatory region 14818 Neighboring gene MPRA-validated peak1624 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:27037949-27038123 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27091219-27091728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27091729-27092237 Neighboring gene integrator complex subunit 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6131 Neighboring gene transmembrane 7 superfamily member 3 Neighboring gene mediator complex subunit 21

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
  • 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. Association between FGFR1OP2/wit3.0 polymorphisms and residual ridge resorption of mandible in Korean population. Kim JH, et al. PLoS One, 2012. PMID 22880093, Free PMC Article
  2. A genetic association study of single nucleotide polymorphisms in FGFR1OP2/wit3.0 and long-term atrophy of edentulous mandible. Suwanwela J, et al. PLoS One, 2011 Jan 19. PMID 21283824, Free PMC Article
  3. Phosphotyrosine profiling identifies the KG-1 cell line as a model for the study of FGFR1 fusions in acute myeloid leukemia. Gu TL, et al. Blood, 2006 Dec 15. PMID 16946300
  4. Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome. Grand EK, et al. Genes Chromosomes Cancer, 2004 May. PMID 15034873
  5. Small cytoskeleton-associated molecule, fibroblast growth factor receptor 1 oncogene partner 2/wound inducible transcript-3.0 (FGFR1OP2/wit3.0), facilitates fibroblast-driven wound closure. Lin A, et al. Am J Pathol, 2010 Jan. PMID 19959814, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The patient with minor allele of ss518063493 may be associated with excessive atrophy of edentulous mandible whereas the patients with that of rs840869 are not associated in Korean population.
    Title: Association between FGFR1OP2/wit3.0 polymorphisms and residual ridge resorption of mandible in Korean population.
  2. patients with the minor allele of rs840869 or rs859024 of FGFR1OP2 were associated with excessive atrophy of edentulous mandible
    Title: A genetic association study of single nucleotide polymorphisms in FGFR1OP2/wit3.0 and long-term atrophy of edentulous mandible.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
  4. FGFR1OP2/wit3.0 may regulate cell motility and stimulate wound closure.
    Title: Small cytoskeleton-associated molecule, fibroblast growth factor receptor 1 oncogene partner 2/wound inducible transcript-3.0 (FGFR1OP2/wit3.0), facilitates fibroblast-driven wound closure.
  5. FGFR1OP2 is a new FGFR1 fusion gene involving a chromosomes 12X8 translocation in a 8p11 myeloproliferative syndrome patient.
    Title: Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37569, DKFZp564O1863, DKFZp586C1423

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in response to wounding IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in wound healing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
FGFR1 oncogene partner 2
Names
fibroblast growth factor receptor 1 oncogene partner 2
wound inducible transcript 3.0

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.

mRNA and Protein(s)

  1. NM_001171887.2 → NP_001165358.1  FGFR1 oncogene partner 2 isoform 2

    See identical proteins and their annotated locations for NP_001165358.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC024896, BI829470, DA388639
    Consensus CDS
    CCDS53767.1
    UniProtKB/Swiss-Prot
    Q9NVK5
    Related
    ENSP00000323763.5, ENST00000327214.5
    Conserved Domains (1) summary
    pfam05769
    Location:2 → 183
    SIKE; SIKE family

  2. NM_001171888.2 → NP_001165359.1  FGFR1 oncogene partner 2 isoform 3

    See identical proteins and their annotated locations for NP_001165359.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC024896, AK001534, BC032143
    Consensus CDS
    CCDS53766.1
    UniProtKB/Swiss-Prot
    Q9NVK5
    Related
    ENSP00000437556.1, ENST00000546072.5
    Conserved Domains (1) summary
    pfam05769
    Location:2 → 133
    DUF837; Protein of unknown function (DUF837)

  3. NM_015633.3 → NP_056448.1  FGFR1 oncogene partner 2 isoform 1

    See identical proteins and their annotated locations for NP_056448.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC024896, AK001534
    Consensus CDS
    CCDS8709.1
    UniProtKB/Swiss-Prot
    Q6R955, Q8N5L7, Q9NVK5, Q9P034, Q9UFK8
    Related
    ENSP00000229395.3, ENST00000229395.8
    Conserved Domains (1) summary
    pfam05769
    Location:2 → 221
    SIKE; SIKE family

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    26938470..26966648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    26810479..26838658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NVK5.1 GenPept UniProtKB/Swiss-Prot:Q9NVK5

Gene LinkOut

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