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

Gene ID: 26277, updated on 18-Aug-2020

Summary

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
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

Genomic context

See TINF2 in Genome Data Viewer
Location:
14q12
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24239640..24242674, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24703454..24712233, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NEDD8-MDP1 readthrough Neighboring gene NEDD8 ubiquitin like modifier Neighboring gene Sharpr-MPRA regulatory region 3923 Neighboring gene guanosine monophosphate reductase 2 Neighboring gene transglutaminase 1 Neighboring gene TGM1 promoter region Neighboring gene uncharacterized LOC102725044 Neighboring gene Rab geranylgeranyltransferase subunit alpha

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region HDA PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
nuclear telomere cap complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
perinucleolar chromocenter IDA
Inferred from Direct Assay
more info
PubMed 
shelterin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
shelterin complex IDA
Inferred from Direct Assay
more info
PubMed 
shelterin complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

  1. NM_001099274.3NP_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
    Q9BSI4
    Related
    ENSP00000267415.7, ENST00000267415.12
    Conserved Domains (2) summary
    cd11741
    Location:249353
    TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
    pfam14973
    Location:20166
    TINF2_N; TERF1-interacting nuclear factor 2 N-terminus
  2. NM_001363668.2NP_001350597.1  TERF1-interacting nuclear factor 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK294119, AL096870
    Consensus CDS
    CCDS86378.1
    Related
    ENSP00000494065.1, ENST00000646753.1
    Conserved Domains (2) summary
    cd11741
    Location:214318
    TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
    pfam14973
    Location:20131
    TINF2_N; TERF1-interacting nuclear factor 2 N-terminus
  3. NM_012461.3NP_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/Swiss-Prot
    Q9BSI4
    Related
    ENSP00000382350.4, ENST00000399423.8
    Conserved Domains (2) summary
    cd11741
    Location:249353
    TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
    pfam14973
    Location:20166
    TINF2_N; TERF1-interacting nuclear factor 2 N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536642.2XP_011534944.1  TERF1-interacting nuclear factor 2 isoform X3

    Conserved Domains (1) summary
    pfam14973
    Location:20166
    TINF2_N; TERF1-interacting nuclear factor 2 N-terminus
  2. XM_017021216.2XP_016876705.1  TERF1-interacting nuclear factor 2 isoform X2

  3. XM_017021217.1XP_016876706.1  TERF1-interacting nuclear factor 2 isoform X2

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p13 PATCHES

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