RBCC Red Blood Cell Collection

CCDC6_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CCDC6 , D10S170, TST1
Protein names and data: CCDC6_HUMAN , Coiled-coil domain-containing protein 6 , Papillary thyroid carcinoma-encoded protein; Protein H4 Lenght: 474 a.a.
Mass: 53291 Da
fasta formatted sequence
Disease: ( OMIM: 188550 601985 ) Thyroid papillary carcinoma (TPC) [MIM:188550]: A common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving CCDC6 is found in thyroid papillary carcinomas. Inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene.
Cellular location: Cytoplasm. Cytoplasm, cytoskeleton (Probable). Note=May be a cytoskeletal protein.
Tissue specificity: Ubiquitously expressed.

Genetic variants

470 - 470 P -> T (in dbSNP:rs1053266). VAR_062971 1053266

Database cross-references

UniProt: Q16204
Ensembl: ENST00000263102
MIM: 188550
MIM: 601985
neXtProt: NX_Q16204
Antibodypedia: Q16204 (may not find the protein thus also not any antibody)
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