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

Gene ID: 26277, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
14q12
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24239640..24242674, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18438013..18441046, complement)
105.20220307 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

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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. Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility. Koivuluoma S, et al. Fam Cancer, 2023 Jan. PMID 35590014, Free PMC Article
  2. TINF2 is a haploinsufficient tumor suppressor that limits telomere length. Schmutz I, et al. Elife, 2020 Dec 1. PMID 33258446, Free PMC Article
  3. A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres. He H, et al. Thyroid, 2020 Feb. PMID 31928178, Free PMC Article
  4. A novel spliced variant of the TIN2 shelterin is present in chronic lymphocytic leukemia. Ishdorj G, et al. Leuk Res, 2017 Aug. PMID 28575699
  5. 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

See all (102) 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

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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

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

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Preferred Names
TERF1-interacting nuclear factor 2
Names
TERF1 (TRF1)-interacting nuclear factor 2
TRF1-interacting nuclear protein 2

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_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_2023_10

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.

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