Recombinant Human Coiled-coil and C2 domain-containing protein 2A (CC2D2A), partial

Product Details

Purity

≥85% (SDS-PAGE)

Target Names

CC2D2A

Uniprot No.

Alternative Names

C2D2A_HUMAN; CC2D2A; Coiled coil and C2 domain containing 2A; Coiled-coil and C2 domain-containing protein 2A; JBTS9; KIAA1345; MKS6

Species

Homo sapiens (Human)

Protein Length

Partial

Tag Info

Tag type will be determined during the manufacturing process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Form

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer before Lyophilization

Tris/PBS-based buffer, 6% Trehalose.

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet

Please contact us to get it.

Target Background

Function

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 ciliogenesis and sonic hedgehog/SHH signaling.

Gene References into Functions

Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in Saudi Arabian cohort. PMID: 26862157
Using a dedicated bioinformatics algorithm for TE detection, we identified an exonic retrotransposon insertion of L1 to the CC2D2A locus in a patient with Meckel-Gruber syndrome, the most severe form of the ciliopathy phenotypes. PMID: 28374938
these data support a model where CC2D2A associates with NINL to provide a docking point for cilia-directed cargo vesicles, suggesting a mechanism by which transition zone proteins can control the protein content of the ciliary compartment. PMID: 26485645
CC2D2A testing should be prioritised in patients with JS and ventriculomegaly and/or seizures. Patients with CC2D2A-related JS should be monitored for hydrocephalus and seizures. PMID: 22241855
Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L. PMID: 19574260
Mutations within the CC2D2A gene are associated with Meckel and Joubert syndromes. PMID: 19777577
A homozygous splice-site mutation segregating in the family with autosomal-recessive mental retardation, within a coiled-coil and C2 domain-containing gene, CC2D2A was identified. PMID: 18387594
CC2D2A appears to have at least two cilia-related functions: the molecule seems to be a part of the basal body complex where the cilium is assembled from and also seems to act as a sensor for the intracellular calcium. PMID: 18513680
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. PMID: 18950740
CC2D2A causes autosomal-recessive mental retardation with retinitis pigmentosa. PMID: 19068953

Hide All

Involvement in disease

Meckel syndrome 6 (MKS6); Joubert syndrome 9 (JBTS9); COACH syndrome (COACHS)

Subcellular Location

Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body.

Tissue Specificity

Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart.

Database Links

HGNC: 29253

OMIM: 216360

KEGG: hsa:57545

STRING: 9606.ENSP00000398391

UniGene: Hs.590928

Message

Product >> Product Name：
Product >> Code：
Name： *
Email： *
Company/Organization：
Phone：
Since emails may get flagged by spam filters occasionally, we recommend leaving your phone number as a precaution. Your information is safe with us.
Question/Comment： *
Your Region： *
I'd like to receive email newsletters from Cusabio

Yes

No
How do you know CUSABIO?

Email

Distributor

Search engine

Advertisement

Others
CAPTCHA verification：
Please enter the characters shown. Click the image to refresh if unclear.

Code	CSB-YP889186HU
MSDS	MSDS Datasheet
Size	Pls inquire
Source	Yeast
Have Questions?	Leave a Message or Start an on-line Chat

Code	CSB-EP889186HU
MSDS	MSDS Datasheet
Size	Pls inquire
Source	E.coli
Have Questions?	Leave a Message or Start an on-line Chat

Code	CSB-EP889186HU-B
MSDS	MSDS Datasheet
Size	Pls inquire
Source	E.coli
Conjugate	Avi-tag Biotinylated E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
Have Questions?	Leave a Message or Start an on-line Chat

Code	CSB-BP889186HU
MSDS	MSDS Datasheet
Size	Pls inquire
Source	Baculovirus
Have Questions?	Leave a Message or Start an on-line Chat

Code	CSB-MP889186HU
MSDS	MSDS Datasheet
Size	Pls inquire
Source	Mammalian cell
Have Questions?	Leave a Message or Start an on-line Chat

Recombinant Human Coiled-coil and C2 domain-containing protein 2A (CC2D2A), partial

Product Details

Customer Reviews and Q&A

Target Background

×CloseMessage