Cell Biology Antibodies 5
Anti-TCTN2 Antibody (CAB15191)
- SKU:
- CAB15191
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-TCTN2 Antibody |
Antibody SKU: | CAB15191 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | IF |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 420-670 of human TCTN2 (NP_079085.2). |
Application: | IF |
Recommended Dilution: | IF 1:50 - 1:200 |
Reactivity: | Human |
Positive Samples: |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 420-670 of human TCTN2 (NP_079085.2). |
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: | VKFL SYNS GNEE ELSG NPGY QLGK PVRA LNIN RMNN VTTL HLWQ SAGR GLCT SATF KPIL FGEN VLSG CLLE VGIN ENCT QLRE NAVE RLDS LIQA THVA MRGN SDYA DLSD GWLE IIRV DAPD PGAD PLAS SVNG MCLD IPAH LSIR ILIS DAGA VEGI TQQE ILGV ETRF SSVN WQYQ CGLT CEHK ADLL PISA SVQF IKIP AQLP HPLT RFQI NYTE YDCN RNEV CWPQ LLYP WTQY YQGE LHSQ CVA |
Gene ID: | 79867 |
Uniprot: | Q96GX1 |
Cellular Location: | Cytoplasm, Membrane, Single-pass type I membrane protein, cilium basal body, cytoskeleton |
Calculated MW: | 76kDa |
Observed MW: |
Synonyms: | TCTN2, C12orf38, JBTS24, MKS8, TECT2 |
Background: | This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. |
UniProt Protein Function: | TCTN2: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction. Defects in TCTN2 are the cause of Meckel syndrome type 8 (MKS8). A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Defects in TCTN2 may be a cause of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Belongs to the tectonic family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Membrane protein, integral Chromosomal Location of Human Ortholog: 12q24.31 Cellular Component: cytoskeleton; cytoplasm; integral to membrane Biological Process: smoothened signaling pathway; organelle organization and biogenesis; cilium biogenesis Disease: Joubert Syndrome 1; Meckel Syndrome, Type 8 |
NCBI Summary: | This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] |
UniProt Code: | Q96GX1 |
NCBI GenInfo Identifier: | 219803496 |
NCBI Gene ID: | 79867 |
NCBI Accession: | |
UniProt Related Accession: | Q96GX1 |
Molecular Weight: | |
NCBI Full Name: | tectonic-2 isoform 2 |
NCBI Synonym Full Names: | tectonic family member 2 |
NCBI Official Symbol: | TCTN2 |
NCBI Official Synonym Symbols: | MKS8; TECT2; JBTS24; C12orf38 |
NCBI Protein Information: | tectonic-2 |
UniProt Protein Name: | Tectonic-2 |
Protein Family: | Tectonic |
UniProt Gene Name: | TCTN2 |
UniProt Entry Name: | TECT2_HUMAN |
Immunofluorescence analysis of U2OS cells using TCTN2 antibody (CAB15191) at dilution of 1:100. Blue: DAPI for nuclear staining. |
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