Rabbit anti-Human, Mouse USH2A Polyclonal Antibody | anti-USH2A antibody

USH2A Antibody

Cat. Num. AAA9630895

• Gene Names: USH2A; US2; RP39; USH2; dJ1111A8.1
• Reactivity: Human, Mouse
• Applications: ELISA
• Purity: The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).
• Synonyms: USH2A; Polyclonal Antibody; USH2A Antibody; dJ1111A8.1; US2; Usher syndrome type 2A protein; Usher syndrome type IIa protein; Usherin; anti-USH2A antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: Rabbit IgG
• Specificity: USH2A Antibody detects endogenous levels of USH2A.
• Purity/Purification: The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).
• Form/Format: Liquid. Rabbit IgG in phosphate buffered saline, pH7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
• Concentration: 1mg/ml (varies by lot)

• Applicable Applications for anti-USH2A antibody: ELISA (EIA)(peptide)
• Application Notes: ELISA(peptide): 1:20000-1:40000
• Immunogen: A synthesized peptide derived from human USH2A.
• Conjugation: Unconjugated
• Similarity: The PDZ-binding motif probably mediates the association with some of the PDZ domains of USH1C and WHRN.
• Subunit Structure: Interacts with collagen IV and fibronectin via its laminin EGF-like domains. Interaction with collagen may be required for stable integration into the basement membrane. Interacts with NINL. Interacts with USH1C. Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN. Interacts with ADGRV1/MASS1 (via N-terminal PDZ domain). Interacts (via the cytoplasmic region) with WHRN. Interacts (via the cytoplasmic region) with PDZD7. Interacts (via the cytoplasmic region) with VEZT and MYO7A (via MyTH4-FERM domains); the interaction associates VEZT with the USH2 complex at the stereocilia base (By similarity).
• Tissue Specificity: Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch's layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea.
• Function: Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.
• Note: Component of the interstereocilia ankle links in the inner ear sensory cells. In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment taht surrounds the connecting cilia called periciliary membrane complex.Secreted.
• Preparation and Storage: Store at -20 degree C. Stable for 12 months from date of receipt.

Product Categories/Family for anti-USH2A antibody

Cell projection; Stereocilium membrane; Single-pass type I membrane protein; Primary

NCBI and Uniprot Product Information

• NCBI GI #: 219842259
• NCBI GeneID: 7399
• NCBI Accession #: NP_009054.5
• NCBI GenBank Nucleotide #: NM_007123.5
• UniProt Accession #: O75445; Q5VVM9; Q6S362; Q9NS27
• NCBI Official Full Name: usherin isoform A
• NCBI Official Synonym Full Names: usherin
• NCBI Official Symbol: USH2A
• NCBI Official Synonym Symbols: US2; RP39; USH2; dJ1111A8.1
• NCBI Protein Information: usherin
• UniProt Protein Name: Usherin
• Protein Family: Usherin
• UniProt Gene Name: USH2A
• UniProt Entry Name: USH2A_HUMAN

NCBI Description

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Uniprot Description

USH2A: Involved in hearing and vision. Defects in USH2A are the cause of Usher syndrome type 2A (USH2A). USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. Defects in USH2A are the cause of retinitis pigmentosa type 39 (RP39). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP39 inheritance is autosomal recessive. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Membrane protein, integral; Cell adhesion

Chromosomal Location of Human Ortholog: 1q41

Cellular Component: apical plasma membrane; basement membrane; cytoplasm; integral to membrane; photoreceptor connecting cilium; photoreceptor inner segment; stereocilium bundle

Molecular Function: collagen binding; myosin binding; protein binding; protein homodimerization activity

Biological Process: establishment of protein localization; hair cell differentiation; inner ear receptor cell differentiation; maintenance of organ identity; photoreceptor cell maintenance; response to stimulus; sensory perception of light stimulus; sensory perception of sound; visual perception

Disease: Retinitis Pigmentosa 39; Usher Syndrome, Type Iia