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    FNIP2 folliculin interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 57600, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FNIP2provided by HGNC
    Official Full Name
    folliculin interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:29280
    See related
    Ensembl:ENSG00000052795 MIM:612768; AllianceGenome:HGNC:29280
    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
    FNIPL; MAPO1
    Summary
    This gene encodes a protein that binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK), and may play a role cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. The encoded protein may also be involved in regulating the O6-methylguanine-induced apoptosis signaling pathway. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in kidney (RPKM 11.0), fat (RPKM 8.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FNIP2 in Genome Data Viewer
    Location:
    4q32.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (158769026..158908050)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (162119774..162258820)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (159690178..159829202)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U3 Neighboring gene electron transfer flavoprotein dehydrogenase Neighboring gene hESC enhancers GRCh37_chr4:159643958-159644541 and GRCh37_chr4:159644542-159645126 Neighboring gene peptidylprolyl isomerase D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15773 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:159690086-159690823 Neighboring gene Sharpr-MPRA regulatory region 12747 Neighboring gene RNA, U6 small nuclear 128, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:159766516-159767164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:159802306-159803286 Neighboring gene Sharpr-MPRA regulatory region 14183 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:159823055-159823920 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:159823921-159824786 Neighboring gene uncharacterized LOC124900178 Neighboring gene sperm microtubule inner protein 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:159917411-159918610 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:159927373-159927905 Neighboring gene proteasome activator subunit 2 pseudogene 3

    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. Stabilization of MAPO1 by specific binding with folliculin and AMP-activated protein kinase in O⁶-methylguanine-induced apoptosis. Sano S, et al. Biochem Biophys Res Commun, 2013 Jan 11. PMID 23201403
    2. Folliculin-interacting protein FNIP2 impacts on overweight and obesity through a polymorphism in a conserved 3' untranslated region. Fernández LP, et al. Genome Biol, 2022 Oct 31. PMID 36316722, Free PMC Article
    3. A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA. Komori K, et al. Oncogene, 2009 Feb 26. PMID 19137017
    4. Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells. Glykofridis IE, et al. Elife, 2021 Jan 18. PMID 33459596, Free PMC Article
    5. Nutrient-induced FNIP degradation by SCFβ-TRCP regulates FLCN complex localization and promotes renal cancer progression. Nagashima K, et al. Oncotarget, 2017 Feb 7. PMID 28039480, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1 activation and tumor progression in pancreatic cancer.
      Title: Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1 activation and tumor progression in pancreatic cancer.
    2. Folliculin-interacting protein FNIP2 impacts on overweight and obesity through a polymorphism in a conserved 3' untranslated region.
      Title: Folliculin-interacting protein FNIP2 impacts on overweight and obesity through a polymorphism in a conserved 3' untranslated region.
    3. Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.
      Title: Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.
    4. SCFbeta-TRCP negatively regulates the FLCN complex by promoting FNIP2 degradation in Birt-Hogg-Dube syndrome-associated renal cancer.
      Title: Nutrient-induced FNIP degradation by SCFβ-TRCP regulates FLCN complex localization and promotes renal cancer progression.
    5. this study obtained evidence to show that stabilization of MAPO1 is regulated through its specific interaction with folliculin and AMPK.
      Title: Stabilization of MAPO1 by specific binding with folliculin and AMP-activated protein kinase in O⁶-methylguanine-induced apoptosis.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. The identification and characterization of a novel FNIP1 homolog FNIP2 that also interacts with FLCN and AMPK, is reported.
      Title: Identification and characterization of a novel folliculin-interacting protein FNIP2.
    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

    • KIAA1450

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATPase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-folding chaperone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-folding chaperone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of FNIP-folliculin RagC/D GAP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    folliculin-interacting protein 2
    Names
    FNIP1-like protein
    O6-methylguanine-induced apoptosis 1 protein

    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_001323916.2 → NP_001310845.1  folliculin-interacting protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AB040883, AC093700, AC107219, BC016638
      UniProtKB/Swiss-Prot
      Q9P278
      Conserved Domains (3) summary
      pfam14636
      Location:69 → 187
      FNIP_N; Folliculin-interacting protein N-terminus
      pfam14637
      Location:320 → 553
      FNIP_M; Folliculin-interacting protein middle domain
      pfam14638
      Location:950 → 1133
      FNIP_C; Folliculin-interacting protein C-terminus

    2. NM_001346043.2 → NP_001332972.1  folliculin-interacting protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AB040883, AC093700, BM806956, HY049314
      UniProtKB/Swiss-Prot
      Q9P278

    3. NM_001366843.1 → NP_001353772.1  folliculin-interacting protein 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC093700, AC107219, AC109823
      Conserved Domains (3) summary
      pfam14636
      Location:69 → 187
      FNIP_N; Folliculin-interacting protein N-terminus
      pfam14637
      Location:350 → 583
      FNIP_M; Folliculin-interacting protein middle domain
      pfam14638
      Location:980 → 1163
      FNIP_C; Folliculin-interacting protein C-terminus

    4. NM_020840.3 → NP_065891.1  folliculin-interacting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_065891.1

      Status: REVIEWED

      Source sequence(s)
      AB040883, AC093700, HY049314
      Consensus CDS
      CCDS47155.1
      UniProtKB/Swiss-Prot
      Q05DC3, Q96I31, Q9H994, Q9P278
      Related
      ENSP00000264433.6, ENST00000264433.11
      Conserved Domains (3) summary
      pfam14636
      Location:46 → 164
      FNIP_N; Folliculin-interacting protein N-terminus
      pfam14637
      Location:297 → 530
      FNIP_M; Folliculin-interacting protein middle domain
      pfam14638
      Location:927 → 1110
      FNIP_C; Folliculin-interacting protein C-terminus

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      158769026..158908050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263158.3 → XP_005263215.1  folliculin-interacting protein 2 isoform X2

      Conserved Domains (3) summary
      pfam14636
      Location:46 → 164
      FNIP_N; Folliculin-interacting protein N-terminus
      pfam14637
      Location:327 → 560
      FNIP_M; Folliculin-interacting protein middle domain
      pfam14638
      Location:957 → 1140
      FNIP_C; Folliculin-interacting protein C-terminus

    2. XM_047416018.1 → XP_047271974.1  folliculin-interacting protein 2 isoform X5

    3. XM_017008487.2 → XP_016863976.1  folliculin-interacting protein 2 isoform X1

    4. XM_047416017.1 → XP_047271973.1  folliculin-interacting protein 2 isoform X4

    5. XM_024454161.2 → XP_024309929.1  folliculin-interacting protein 2 isoform X6

      Conserved Domains (3) summary
      pfam14636
      Location:69 → 187
      FNIP_N; Folliculin-interacting protein N-terminus
      pfam14637
      Location:350 → 583
      FNIP_M; Folliculin-interacting protein middle domain
      pfam14638
      Location:980 → 1036
      FNIP_C; Folliculin-interacting protein C-terminus

    6. XM_047416021.1 → XP_047271977.1  folliculin-interacting protein 2 isoform X8

    7. XM_005263160.4 → XP_005263217.1  folliculin-interacting protein 2 isoform X3

      Conserved Domains (3) summary
      pfam14636
      Location:69 → 187
      FNIP_N; Folliculin-interacting protein N-terminus
      pfam14637
      Location:350 → 583
      FNIP_M; Folliculin-interacting protein middle domain
      pfam14638
      Location:980 → 1036
      FNIP_C; Folliculin-interacting protein C-terminus

    8. XM_047416019.1 → XP_047271975.1  folliculin-interacting protein 2 isoform X7

    9. XM_047416022.1 → XP_047271978.1  folliculin-interacting protein 2 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      162119774..162258820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350604.1 → XP_054206579.1  folliculin-interacting protein 2 isoform X2

    2. XM_054350607.1 → XP_054206582.1  folliculin-interacting protein 2 isoform X5

    3. XM_054350603.1 → XP_054206578.1  folliculin-interacting protein 2 isoform X1

    4. XM_054350606.1 → XP_054206581.1  folliculin-interacting protein 2 isoform X4

    5. XM_054350608.1 → XP_054206583.1  folliculin-interacting protein 2 isoform X6

    6. XM_054350611.1 → XP_054206586.1  folliculin-interacting protein 2 isoform X8

    7. XM_054350605.1 → XP_054206580.1  folliculin-interacting protein 2 isoform X3

    8. XM_054350609.1 → XP_054206584.1  folliculin-interacting protein 2 isoform X7

    9. XM_054350610.1 → XP_054206585.1  folliculin-interacting protein 2 isoform X10

    10. XM_054350612.1 → XP_054206587.1  folliculin-interacting protein 2 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P278.2 GenPept UniProtKB/Swiss-Prot:Q9P278

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