coiled-coil and C2 domain-containing protein 2A isoform a [Homo sapien - Protein

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Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome. [Genes (Basel). 2023]
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.
Cabrita Pinto RL, Viaggi S, Canale E, Martinez Popple M, Capra V, Conteduca G, Testa B, Coviello D, Covone AE. Genes (Basel). 2023 Mar 28; 14(4). Epub 2023 Mar 28.
New insights into CC2D2A-related Joubert syndrome. [J Med Genet. 2023]
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, et al. J Med Genet. 2023 Jun; 60(6):578-586. Epub 2022 Nov 1.
Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family. [J Gene Med. 2021]
Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.
Khan MI, Latif M, Saif M, Ahmad H, Khan AU, Naseer MI, Hussain HMJ, Jelani M. J Gene Med. 2021 Jan; 23(1):e3279. Epub 2020 Oct 27.

RefSeq genomic sequence
See the genomic reference sequence for the CC2D2A gene (NG_013035.1).
RefSeq mRNA
See reference mRNA sequence for the CC2D2A gene (NM_001080522.2).
RefSeq protein isoforms
See 11 reference sequence protein isoforms for the CC2D2A gene.

NP_001073991 [Domain Mapping of Disease Mut...]
NP_001073991
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein