RBCC

ANKS6_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ANKS6 , ANKRD14, PKDR1, SAMD6
Protein names and data: ANKS6_HUMAN , Ankyrin repeat and SAM domain-containing protein 6 , Ankyrin repeat domain-containing protein 14; SamCystin; Sterile alpha motif domain-containing protein 6; SAM domain-containing protein 6 Lenght: 871 a.a.
Mass: 92219 Da
fasta formatted sequence
Function: Required for renal function.
Disease: ( OMIM: 615370 615382 ) Nephronophthisis 16 (NPHP16) [MIM:615382]: A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell projection, cilium (By similarity). Cytoplasm (By similarity). Note=Localizes to the proximal region of the primary cilium in the presence of INVS (By similarity).

Genetic variants

222 - 222 R -> W (in dbSNP:rs41283630). VAR_070105 41283630
312 - 312 A -> P (in NPHP16). VAR_070106
440 - 440 R -> Q. VAR_070107
441 - 441 Q -> R (in NPHP16; dbSNP:rs377750405). VAR_070108 377750405
640 - 640 G -> S. VAR_070109
644 - 644 V -> I (in dbSNP:rs6415847). VAR_034794 6415847
735 - 735 P -> A (in dbSNP:rs79414550). VAR_070110 79414550

Database cross-references

UniProt: Q68DC2
Ensembl: ENST00000353234
Ensembl: ENST00000375018
MIM: 615370
MIM: 615382
neXtProt: NX_Q68DC2
Antibodypedia: Q68DC2 (may not find the protein thus also not any antibody)
Local full text data: click here

RBCC Red Blood Cell Collection

ANKS6_HUMAN

Genetic variants

Database cross-references

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