U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    TINF2 TERF1 interacting nuclear factor 2 [ Homo sapiens (human) ]

    Gene ID: 26277, updated on 27-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    TINF2provided by HGNC
    Official Full Name
    TERF1 interacting nuclear factor 2provided by HGNC
    Primary source
    HGNC:HGNC:11824
    See related
    Ensembl:ENSG00000092330 MIM:604319; AllianceGenome:HGNC:11824
    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
    TIN2; DKCA3
    Summary
    This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in lymph node (RPKM 21.4), adrenal (RPKM 21.1) 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
    See TINF2 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24239640..24242674, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18438013..18441046, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24708846..24711880, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NEDD8-MDP1 readthrough Neighboring gene NEDD8 ubiquitin like modifier Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24701437-24702302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24710068-24710597 Neighboring gene guanosine monophosphate reductase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8201 Neighboring gene Sharpr-MPRA regulatory region 7959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24727660-24728357 Neighboring gene transglutaminase 1 Neighboring gene TGM1 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5633 Neighboring gene Rab geranylgeranyltransferase subunit alpha Neighboring gene NOP9 nucleolar protein

    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. TINF2 is a haploinsufficient tumor suppressor that limits telomere length. Schmutz I, et al. Elife, 2020 Dec 1. PMID 33258446, Free PMC Article
    2. A novel spliced variant of the TIN2 shelterin is present in chronic lymphocytic leukemia. Ishdorj G, et al. Leuk Res, 2017 Aug. PMID 28575699
    3. Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. Gupta MP, et al. Ophthalmic Genet, 2017 Jan-Feb. PMID 28095086
    4. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Savage SA, et al. Am J Hum Genet, 2008 Feb. PMID 18252230, Free PMC Article
    5. Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells. Pereboeva L, et al. PLoS One, 2016. PMID 26859482, Free PMC Article

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. eIF3i promotes colorectal cancer cell survival via augmenting PHGDH translation.
      Title: eIF3i promotes colorectal cancer cell survival via augmenting PHGDH translation.
    2. TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.
      Title: TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.
    3. Phosphorylation of TRF2 promotes its interaction with TIN2 and regulates DNA damage response at telomeres.
      Title: Phosphorylation of TRF2 promotes its interaction with TIN2 and regulates DNA damage response at telomeres.
    4. Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
      Title: Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
    5. The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.
      Title: The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.
    6. Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.
      Title: Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.
    7. Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.
      Title: Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.
    8. A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.
      Title: A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.
    9. TINF2 is a haploinsufficient tumor suppressor that limits telomere length.
      Title: TINF2 is a haploinsufficient tumor suppressor that limits telomere length.
    10. Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway.
      Title: Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (50)

    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)

    Pathways from PubChem

    Go to the top of the page

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein ADP-ribosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of telomere maintenance via telomerase IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of telomere maintenance via telomerase IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of telomere maintenance NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein localization to chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to chromosome, telomeric region IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of telomere maintenance via telomere lengthening IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of telomere maintenance via telomere lengthening IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in telomere assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in telomere capping IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomere capping IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in telomere capping IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome, telomeric region HDA PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of nuclear telomere cap complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in perinucleolar chromocenter IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of shelterin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of shelterin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of shelterin complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of shelterin complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    TERF1-interacting nuclear factor 2
    Names
    TERF1 (TRF1)-interacting nuclear factor 2
    TRF1-interacting nuclear protein 2

    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_016650.1 RefSeqGene

      Range
      5001..8035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_342

    mRNA and Protein(s)

    1. NM_001099274.3 → NP_001092744.1  TERF1-interacting nuclear factor 2 isoform 1

      See identical proteins and their annotated locations for NP_001092744.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1), also known as TIN2L.
      Source sequence(s)
      BC019343
      Consensus CDS
      CCDS41936.1
      UniProtKB/Swiss-Prot
      B3W5Q7, Q9BSI4, Q9H904, Q9UHC2
      UniProtKB/TrEMBL
      A0A8V8TQE2
      Related
      ENSP00000267415.7, ENST00000267415.12
      Conserved Domains (2) summary
      cd11741
      Location:249 → 353
      TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
      pfam14973
      Location:20 → 166
      TINF2_N; TERF1-interacting nuclear factor 2 N-terminus

    2. NM_001363668.2 → NP_001350597.1  TERF1-interacting nuclear factor 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK294119, AL096870
      Consensus CDS
      CCDS86378.1
      UniProtKB/TrEMBL
      A0A8V8TQE2, B4DFJ1
      Related
      ENSP00000494065.1, ENST00000646753.1
      Conserved Domains (2) summary
      cd11741
      Location:214 → 318
      TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
      pfam14973
      Location:20 → 131
      TINF2_N; TERF1-interacting nuclear factor 2 N-terminus

    3. NM_012461.3 → NP_036593.2  TERF1-interacting nuclear factor 2 isoform 2

      See identical proteins and their annotated locations for NP_036593.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains additional segments at its 3' end, which results in an early stop codon and a unique 3' UTR, compared to variant 1. It encodes isoform 2, also known as TIN2S, which has a shorter C-terminus when compared to isoform 1.
      Source sequence(s)
      AK225379, AL096870, BM549897, DA053760
      Consensus CDS
      CCDS41937.1
      UniProtKB/TrEMBL
      A0A8V8TQE2
      Related
      ENSP00000382350.4, ENST00000399423.8
      Conserved Domains (2) summary
      cd11741
      Location:249 → 353
      TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
      pfam14973
      Location:20 → 166
      TINF2_N; TERF1-interacting nuclear factor 2 N-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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24239640..24242674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536642.3 → XP_011534944.1  TERF1-interacting nuclear factor 2 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TNM8
      Related
      ENSP00000514528.1, ENST00000699701.1
      Conserved Domains (1) summary
      pfam14973
      Location:20 → 166
      TINF2_N; TERF1-interacting nuclear factor 2 N-terminus

    2. XM_017021217.2 → XP_016876706.1  TERF1-interacting nuclear factor 2 isoform X1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      540618..543652 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332335.1 → XP_054188310.1  TERF1-interacting nuclear factor 2 isoform X2

    2. XM_054332334.1 → XP_054188309.1  TERF1-interacting nuclear factor 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18438013..18441046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375848.1 → XP_054231823.1  TERF1-interacting nuclear factor 2 isoform X2

    2. XM_054375847.1 → XP_054231822.1  TERF1-interacting nuclear factor 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSI4.1 GenPept UniProtKB/Swiss-Prot:Q9BSI4

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous