Cell Biology Antibodies 10
Anti-TINF2 Antibody (CAB6769)
- SKU:
- CAB6769
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-TINF2 Antibody |
Antibody SKU: | CAB6769 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 202-451 of human TINF2 (NP_001092744.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse |
Positive Samples: | MCF7, HepG2, Mouse skeletal muscle, Mouse heart |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 202-451 of human TINF2 (NP_001092744.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | ECSV TDSV NLAE PMEQ NPPQ QQRL ALHN PLPK AKPG THLP QGPS SRTH PEPL AGRH FNLA PLGR RRVQ SQWA STRG GHKE RPTV MLFP FRNL GSPT QVIS KPES KEEH AIYT ADLA MGTR AAST GKSK SPCQ TLGG RALK ENPV DLPA TEQK ENCL DCYM DPLR LSLL PPRA RKPV CPPS LCSS VITI GDLV LDSD EEEN GQGE GKES LENY QKTK FDTL IPTL CEYL PPSG HGAI PVSS CDCR DSSR PL |
Gene ID: | 26277 |
Uniprot: | Q9BSI4 |
Cellular Location: | Chromosome, Nucleus, Nucleus matrix, telomere |
Calculated MW: | 15kDa/39kDa/50kDa |
Observed MW: | 40-45kDa |
Synonyms: | TINF2, DKCA3, TIN2 |
Background: | 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. |
UniProt Protein Function: | TINF2: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix. Defects in TINF2 are a cause of dyskeratosis congenita autosomal dominant type 3 (DKCA3). A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Defects in TINF2 are a cause of retinopathy exudative with bone marrow failure (ERBMF); also known as Revesz syndrome. ERBMF is characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine hair, cerebellar hypoplasia, and growth retardation. 3 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Cell cycle regulation Chromosomal Location of Human Ortholog: 14q12 Cellular Component: nucleoplasm; chromosome, telomeric region; nuclear telomere cap complex; nuclear matrix; nucleus Molecular Function:protein binding; DNA binding; telomeric DNA binding Biological Process: telomere assembly; positive regulation of telomere maintenance; negative regulation of telomere maintenance via telomerase; telomere maintenance; negative regulation of epithelial cell proliferation Disease: Dyskeratosis Congenita, Autosomal Dominant, 3; Revesz Syndrome; Dyskeratosis Congenita, Autosomal Dominant, 1 |
NCBI 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] |
UniProt Code: | Q9BSI4 |
NCBI GenInfo Identifier: | 21542262 |
NCBI Gene ID: | 26277 |
NCBI Accession: | Q9BSI4.1 |
UniProt Secondary Accession: | Q9BSI4,Q9H904, Q9UHC2, B3W5Q7, |
UniProt Related Accession: | Q9BSI4 |
Molecular Weight: | 451 |
NCBI Full Name: | TERF1-interacting nuclear factor 2 |
NCBI Synonym Full Names: | TERF1 (TRF1)-interacting nuclear factor 2 |
NCBI Official Symbol: | TINF2 |
NCBI Official Synonym Symbols: | TIN2; DKCA3 |
NCBI Protein Information: | TERF1-interacting nuclear factor 2; TRF1-interacting nuclear protein 2 |
UniProt Protein Name: | TERF1-interacting nuclear factor 2 |
UniProt Synonym Protein Names: | TRF1-interacting nuclear protein 2 |
Protein Family: | TERF1-interacting nuclear factor |
UniProt Gene Name: | TINF2 |
UniProt Entry Name: | TINF2_HUMAN |
View AllClose