GNA11_HUMAN
Source:
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
GNA11
, GA11
Protein names and data:
GNA11_HUMAN
, Guanine nucleotide-binding protein subunit alpha-11; G alpha-11; G-protein subunit alpha-11
, Guanine nucleotide-binding protein G(y) subunit alpha
Lenght: 359 a.a.
Mass: 42123 Da
fasta formatted sequence
Function:
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C.
Disease:
( OMIM:
139313
145981
615361
)
Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. Note=The disease is caused by mutations affecting the gene represented in this entry. Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]: A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell membrane; Lipid-anchor (Probable).
Genetic variants
60 - 60
R -> C (in HYPOC2). VAR_070165
135 - 135
L -> Q (in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations). VAR_070166
181 - 181
R -> Q (in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations). VAR_070167
200 - 200
Missing (in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations). VAR_070168
211 - 211
S -> W (in HYPOC2). VAR_070169
341 - 341
F -> L (in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations). VAR_070170
Database cross-references
UniProt:
P29992
Ensembl:
ENST00000078429
MIM:
139313
MIM:
145981
MIM:
615361
neXtProt:
NX_P29992
Antibodypedia:
P29992
(may not find the protein thus also not any antibody)
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