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- Table of Contents
Facts about Coiled-coil and C2 domain-containing protein 2A.
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Human | |
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Gene Name: | CC2D2A |
Uniprot: | Q9P2K1 |
Entrez: | 57545 |
Belongs to: |
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No superfamily |
coiled-coil and C2 domain containing 2A
Mass (kDA):
186.185 kDA
Human | |
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Location: | 4p15.32 |
Sequence: | 4; NC_000004.12 (15468660..15601557) |
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.
Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
PMID: 18513680 by Tallila J., et al. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
PMID: 18387594 by Noor A., et al. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.