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P41180 (CASR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 157. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Extracellular calcium-sensing receptor

Short name=CaSR
Alternative name(s):
Parathyroid cell calcium-sensing receptor 1
Short name=PCaR1
Gene names
Name:CASR
Synonyms:GPRC2A, PCAR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1078 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system.

Subunit structure

Interacts with VCP and RNF19A. Interacts with ARRB1 By similarity. Ref.9

Subcellular location

Cell membrane; Multi-pass membrane protein Ref.10.

Tissue specificity

Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also found in kidney, lung, liver, heart, skeletal muscle, placenta. Ref.44

Post-translational modification

N-glycosylated. Ref.9 Ref.10

Ubiquitinated by RNF19A; which induces proteasomal degradation. Ref.9

Involvement in disease

Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]: 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. Ref.7 Ref.11 Ref.13 Ref.18 Ref.27 Ref.35 Ref.38 Ref.39 Ref.40 Ref.42 Ref.43 Ref.46

Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]: A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14 Ref.20 Ref.39

Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]: A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.16 Ref.17 Ref.19 Ref.21 Ref.23 Ref.24 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.37 Ref.41

Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.44

Homozygous defects in CASR can be a cause of primary hyperparathyroidism in adulthood. Patients suffer from osteoporosis and renal calculi, have marked hypercalcemia and increased serum PTH concentrations.

Sequence similarities

Belongs to the G-protein coupled receptor 3 family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

TMED2Q153633EBI-4400127,EBI-998485

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P41180-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P41180-2)

The sequence of this isoform differs from the canonical sequence as follows:
     536-536: E → EPLTFVLSVLQ

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 10781059Extracellular calcium-sensing receptor
PRO_0000012946

Regions

Topological domain20 – 612593Extracellular Potential
Transmembrane613 – 63523Helical; Name=1; Potential
Topological domain636 – 64914Cytoplasmic Potential
Transmembrane650 – 67021Helical; Name=2; Potential
Topological domain671 – 68111Extracellular Potential
Transmembrane682 – 70019Helical; Name=3; Potential
Topological domain701 – 72424Cytoplasmic Potential
Transmembrane725 – 74521Helical; Name=4; Potential
Topological domain746 – 76924Extracellular Potential
Transmembrane770 – 79223Helical; Name=5; Potential
Topological domain793 – 80513Cytoplasmic Potential
Transmembrane806 – 82823Helical; Name=6; Potential
Topological domain829 – 8368Extracellular Potential
Transmembrane837 – 86226Helical; Name=7; Potential
Topological domain863 – 1078216Cytoplasmic Potential
Region880 – 90021Interaction with RNF19A

Amino acid modifications

Glycosylation901N-linked (GlcNAc...) Potential
Glycosylation1301N-linked (GlcNAc...) Potential
Glycosylation2611N-linked (GlcNAc...) Potential
Glycosylation2871N-linked (GlcNAc...) Potential
Glycosylation3861N-linked (GlcNAc...) Potential
Glycosylation4001N-linked (GlcNAc...) Potential
Glycosylation4461N-linked (GlcNAc...) Potential
Glycosylation4681N-linked (GlcNAc...) Potential
Glycosylation4881N-linked (GlcNAc...) Potential
Glycosylation5411N-linked (GlcNAc...) Potential
Glycosylation5941N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence5361E → EPLTFVLSVLQ in isoform 2.
VSP_002035
Natural variant111L → S in HHC1; demonstrates reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; fails to be inserted in the microsomes and does not undergo proper glycosylation. Ref.38
VAR_058046
Natural variant131L → P in HHC1; has a dose-response curve shifted to the right relative to that of wild-type; demonstrates reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; fails to be inserted in the microsomes and does not undergo proper glycosylation. Ref.35 Ref.38
VAR_058047
Natural variant141T → A Does not demonstrate reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; does not fail to be inserted in the microsomes and does undergo proper glycosylation. Ref.38
VAR_058048
Natural variant211G → R in HHC1. Ref.43
VAR_058049
Natural variant271Q → R Found in a patient with primary hyperparathyroidism detected at adulthood; mutant CASR is activated by a higher calcium concentrations than the wild-type. Ref.22
VAR_065198
Natural variant391P → A in HHC1. Ref.7
VAR_003585
Natural variant471K → N in HYPOC1; the EC(50) of the mutant is significantly lower than that of wild-type. Ref.23
VAR_058050
Natural variant621R → M in HHC1 and NSHPT; mild. Ref.13
VAR_003586
Natural variant661R → C in HHC1. Ref.13
VAR_003587
Natural variant1001T → I Found in a patient with primary hyperparathyroidism detected at adulthood. Ref.36
VAR_065199
Natural variant1161A → T in HYPOC1. Ref.16
VAR_003588
Natural variant1181N → K in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity. Ref.17 Ref.19
VAR_058051
Natural variant1251L → P in HYPOC1; shifts the concentration-response curve of calcium ions to the left. Ref.30
VAR_058052
Natural variant1271E → A in HYPOC1. Ref.12
VAR_003589
Natural variant1281F → L in HYPOC1; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor. Ref.17
VAR_058053
Natural variant1311C → W in HYPOC1; associated with clinical features of Bartter syndrome. Ref.31
VAR_058054
Natural variant1381T → M in HHC1. Ref.13
VAR_003590
Natural variant1431G → E in HHC1. Ref.13
VAR_003591
Natural variant1511T → M in HYPOC1; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor. Ref.15 Ref.17
VAR_058055
Natural variant1711S → N in HHC1. Ref.43
VAR_058056
Natural variant1741L → R in HHC1. Ref.18
VAR_003592
Natural variant1801F → C in HHC1; although the mutant receptor is expressed normally at the cell surface it is unresponsive with respect to intracellular signaling (MAPK activation) to increases in extracellular calcium concentrations. Ref.42
VAR_058057
Natural variant1851R → Q in HHC1. Ref.11
VAR_003593
Natural variant1911E → K in HYPOC1; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor. Ref.17
VAR_058058
Natural variant2211P → Q in HHC1. Ref.43
VAR_058059
Natural variant2251K → T in HHC1. Ref.43
VAR_058060
Natural variant2271R → L in NSHPT; impaired in their MAPK response to increasing extracellular calcium concentrations; more markedly impaired relative to wild-type then Gln-227; when cotransfected with wild-type the curve is right-shifted intermediate to the curve for wild-type. Ref.14 Ref.39
Corresponds to variant rs28936684 [ dbSNP | Ensembl ].
VAR_003594
Natural variant2271R → Q in HHC1; impaired in their MAPK response to increasing extracellular calcium concentrations; less markedly impaired relative to wild-type then Leu-227; when cotransfected with wild-type the curve is right-shifted intermediate to the curve for wild-type. Ref.13 Ref.39
VAR_003595
Natural variant2501E → K. Ref.43
Corresponds to variant rs62269092 [ dbSNP | Ensembl ].
VAR_058061
Natural variant2711S → F in HHC1. Ref.43
VAR_058062
Natural variant2971E → K in HHC1 and NSHPT. Ref.11
VAR_003596
Natural variant3361Missing Found in a patient with primary hyperparathyroidism detected at adulthood. Ref.36
VAR_065200
Natural variant3391P → T Mutation found in a patient with primary hyperparathyroidism detected at adulthood; inactivating mutation; mutant CASR is activated by a higher calcium concentrations than the wild-type. Ref.45
VAR_065201
Natural variant3541E → A in EIG8; patients present juvenile myoclonus epilepsy. Ref.44
VAR_060206
Natural variant3971G → R in HHC1. Ref.43
VAR_058063
Natural variant4651R → Q in HHC1; loss-of-function mutation; the quantity of the mutant receptor is higher than that of the wild-type receptor; dose-response curves show that the mutation significantly reduces the sensitivity of the receptor to extracellular calcium concentrations. Ref.40
VAR_058064
Natural variant5091G → R in HHC1. Ref.43
Corresponds to variant rs193922423 [ dbSNP | Ensembl ].
VAR_058065
Natural variant5531G → R in HHC1. Ref.43
VAR_058066
Natural variant5551I → V in HHC1. Ref.43
VAR_058067
Natural variant5571G → E in HHC1. Ref.27
VAR_012649
Natural variant5621C → Y in HHC1. Ref.43
VAR_058068
Natural variant5821C → F in HHC1. Ref.43
VAR_058069
Natural variant5821C → Y in NSHPT. Ref.14 Ref.43
VAR_003597
Natural variant6041E → K in HYPOC1; there is a significant leftward shift in the concentration response curves for the effects of extracellular calcium on both intracellular calcium mobilization and MAPK activity. Ref.32
VAR_058070
Natural variant6121F → S in HYPOC1. Ref.17
VAR_058071
Natural variant6161L → V in HYPOC1; does not affect the total accumulation of inositol phosphates as a function of extracellular calcium concentrations in transfected cells. Ref.24
VAR_015414
Natural variant6231G → D in HHC1. Ref.43
VAR_058072
Natural variant6501L → P Found in a patient with primary hyperparathyroidism detected at adulthood. Ref.36
VAR_065202
Natural variant6701G → E in NSHPT. Ref.20
VAR_058073
Natural variant6701G → R in HHC1. Ref.43
VAR_058074
Natural variant6811Q → H in HYPOC1. Ref.16
VAR_003598
Natural variant6861I → V in EIG8; patients present juvenile myoclonus epilepsy. Ref.44
VAR_060207
Natural variant6891V → M Found in a patient with primary hyperparathyroidism detected at adulthood. Ref.36
VAR_065203
Natural variant6971V → M in HHC1. Ref.46
VAR_065494
Natural variant7271L → Q in HYPOC1; the mutant receptor demonstrates a significant leftward shift in the extracellular calcium/intracellular signaling dose-response curve versus that for the wild-type receptor. Ref.41
VAR_058075
Natural variant7281V → F in HHC1. Ref.43
VAR_058076
Natural variant7421W → R in HHC1. Ref.43
VAR_058077
Natural variant7671E → K in HYPOC1. Ref.37
VAR_021019
Natural variant7731L → R in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity. Ref.19
VAR_058078
Natural variant7881F → C in HYPOC1; leftward shift in the concentration-response curve for the mutant receptor; cells cotransfected with both the wild-type and the mutant receptor show an EC(50) similar to the mutant; a gain-of-function mutation rendering the receptor more sensitive than normal to activation. Ref.21
VAR_058079
Natural variant7881F → L in HYPOC1; induces a significant shift to the left relative to the wild-type protein in the MAPK response to increasing extracellular calcium concentrations. Ref.33
VAR_058080
Natural variant7951R → W in HHC1. Ref.11
VAR_003599
Natural variant8061F → S in HYPOC1; does not produce a significant activating effect; decreased cell surface receptor expression. Ref.16 Ref.19
VAR_003600
Natural variant8201S → F in HYPOC1; the concentration-response curve of the mutant receptor is left-shifted and its EC(50) is significantly lower than that of the wild-type. Ref.29
VAR_058081
Natural variant8431A → E in HYPOC1; also in HYPOC1 associated with clinical features of Bartter syndrome; shifts the concentration-response curve of calcium ions to the left. Ref.30 Ref.31
VAR_058082
Natural variant8511C → S. Ref.16
VAR_003601
Natural variant8811F → L Probable disease-associated mutation found in a patient with hypercalciuric hypercalcemia; mutant CASR has a right-shifted dose-response to extracellular calcium concentrations; activated by a higher calcium concentrations than the wild-type. Ref.26
VAR_058083
Natural variant8861R → W in HHC1. Ref.43
VAR_058084
Natural variant8981R → Q in EIG8. Ref.44
VAR_060208
Natural variant9511P → T.
Corresponds to variant rs4987051 [ dbSNP | Ensembl ].
VAR_020220
Natural variant9861A → S Associated with high serum level of calcium; is also a potential predisposing factor in disorders of bone and mineral metabolism. Ref.5 Ref.25 Ref.28 Ref.34 Ref.36 Ref.40 Ref.43 Ref.44
Corresponds to variant rs1801725 [ dbSNP | Ensembl ].
VAR_014450
Natural variant9881A → G in EIG8; patients present juvenile myoclonus epilepsy. Ref.44
VAR_060209
Natural variant9881A → V in EIG8; patients present juvenile myoclonus epilepsy. Ref.44
VAR_060210
Natural variant9901R → G Associated with low serum level of calcium. Ref.2 Ref.5 Ref.29 Ref.34 Ref.36 Ref.37 Ref.43 Ref.44
Corresponds to variant rs1042636 [ dbSNP | Ensembl ].
VAR_020221
Natural variant10111Q → E Associated with high serum level of calcium. Ref.5 Ref.34 Ref.36 Ref.43
Corresponds to variant rs1801726 [ dbSNP | Ensembl ].
VAR_014451

Experimental info

Sequence conflict8571I → T in BAA09453. Ref.3
Sequence conflict8781A → R in BAA09453. Ref.3
Sequence conflict9261Q → R in AAA86503. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1995. Version 2.
Checksum: 620C57DB1A83E1DB

FASTA1,078120,674
        10         20         30         40         50         60 
MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC 

        70         80         90        100        110        120 
IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI 

       130        140        150        160        170        180 
DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF 

       190        200        210        220        230        240 
KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS 

       250        260        270        280        290        300 
ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA 

       310        320        330        340        350        360 
SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL 

       370        380        390        400        410        420 
QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV 

       430        440        450        460        470        480 
YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD 

       490        500        510        520        530        540 
ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREVPFS 

       550        560        570        580        590        600 
NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW SNENHTSCIA 

       610        620        630        640        650        660 
KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL SYLLLFSLLC 

       670        680        690        700        710        720 
CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI PTSFHRKWWG 

       730        740        750        760        770        780 
LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL MALGFLIGYT 

       790        800        810        820        830        840 
CLLAAICFFF AFKSRKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG KFVSAVEVIA 

       850        860        870        880        890        900 
ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR RSNVSRKRSS 

       910        920        930        940        950        960 
SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL PQQQRSQQQP 

       970        980        990       1000       1010       1020 
RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH QPLLPLQCGE 

      1030       1040       1050       1060       1070 
TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST VTENVVNS 

« Hide

Isoform 2 [UniParc].

Checksum: 0D916FB23151762A
Show »

FASTA1,088121,772

References

« Hide 'large scale' references
[1]Pearce S.H.S., Thakker R.V.
Submitted (DEC-1994) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs."
Garrett J.E., Capuano I.V., Hammerland L.G., Hung B.C., Brown E.M., Hebert S.C., Nemeth E.F., Fuller F.
J. Biol. Chem. 270:12919-12925(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT GLY-990.
Tissue: Parathyroid.
[3]"Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney."
Aida K., Koishi S., Tawata M., Onaya T.
Biochem. Biophys. Res. Commun. 214:524-529(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Kidney.
[4]"Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion."
Freichel M., Zink-Lorenz A., Holloschi A., Hafner M., Flockerzi V., Raue F.
Endocrinology 137:3842-3848(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]SeattleSNPs variation discovery resource
Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-986; GLY-990 AND GLU-1011.
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[7]"Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene."
Aida K., Koishi S., Inoue M., Nakazato M., Tawata M., Onaya T.
J. Clin. Endocrinol. Metab. 80:2594-2598(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-61, VARIANT HHC1 ALA-39.
[8]"Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor."
Bikle D.D., Ratnam A., Mauro T., Harris J., Pillai S.
J. Clin. Invest. 97:1085-1093(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 643-908.
[9]"Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin."
Huang Y., Niwa J., Sobue G., Breitwieser G.E.
J. Biol. Chem. 281:11610-11617(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH VCP AND RNF19A, GLYCOSYLATION, UBIQUITINATION.
[10]"Rab1 small GTP-binding protein regulates cell surface trafficking of the human calcium-sensing receptor."
Zhuang X., Adipietro K.A., Datta S., Northup J.K., Ray K.
Endocrinology 151:5114-5123(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION.
[11]"Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism."
Pollak M.R., Brown E.M., Chou Y.-H.W., Hebert S.C., Marx S.J., Steinmann B., Levi T., Seidman C.E., Seidman J.G.
Cell 75:1297-1303(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HHC1 GLN-185; LYS-297 AND TRP-795.
[12]"Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation."
Pollak M.R., Brown E.M., Estep H.L., McLaine P.N., Kifor O., Park J., Hebert S.C., Seidman C.E., Seidman J.G.
Nat. Genet. 8:303-307(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HYPOC1 ALA-127.
[13]"Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia."
Chou Y.-H.W., Pollak M.R., Brandi M.L., Toss G., Arnqvist H., Atkinson A.B., Papapoulos S.E., Marx S., Brown E.M., Seidman J.G., Seidman C.E.
Am. J. Hum. Genet. 56:1075-1079(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HHC1 MET-62; CYS-66; MET-138; GLU-143 AND GLN-227.
[14]"Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism."
Pearce S.H.S., Trump D., Wooding C., Besser G.M., Chew S.L., Grant D.B., Heath D.A., Hughes I.A., Paterson C.R., Whyte M.P., Thakker R.V.
J. Clin. Invest. 96:2683-2692(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NSHPT LEU-227 AND TYR-582.
[15]"The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism."
Lovlie R., Eiken H.G., Sorheim J.I., Boman H.
Hum. Genet. 98:129-133(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FIH MET-151.
[16]"Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism."
Baron J., Winer K.K., Yanovski J.A., Cunningham A.W., Laue L., Zimmerman D., Cutler G.B. Jr.
Hum. Mol. Genet. 5:601-606(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HYPOC1 THR-116; HIS-681 AND SER-806, VARIANT SER-851.
[17]"A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor."
Pearce S.H.S., Williamson C., Kifor O., Bai M., Coulthard M.G., Davies M., Lewis-Barned N., McCredie D., Powell H., Kendall-Taylor P., Brown E.M., Thakker R.V.
N. Engl. J. Med. 335:1115-1122(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HYPOC1 LYS-118; LEU-128; MET-151; LYS-191 AND SER-612, CHARACTERIZATION OF VARIANTS HYPOC1 LEU-128; MET-151 AND LYS-191.
[18]"A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia."
Ward B.K., Stuckey B.G.A., Gutteridge D.H., Laing N.G., Pullan P.T., Ratajczak T.
Hum. Mutat. 10:233-235(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHC1 ARG-174.
[19]"Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor."
De Luca F., Ray K., Mancilla E.E., Fan G.-F., Winer K.K., Gore P., Spiegel A.M., Baron J.
J. Clin. Endocrinol. Metab. 82:2710-2715(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HYPOC1 LYS-118; ARG-773 AND SER-806, CHARACTERIZATION OF VARIANTS HYPOC1 LYS-118; ARG-773 AND SER-806.
[20]"Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism."
Kobayashi M., Tanaka H., Tsuzuki K., Tsuyuki M., Igaki H., Ichinose Y., Aya K., Nishioka N., Seino Y.
J. Clin. Endocrinol. Metab. 82:2716-2719(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NSHPT GLU-670.
[21]"Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor."
Watanabe T., Bai M., Lane C.R., Matsumoto S., Minamitani K., Minagawa M., Niimi H., Brown E.M., Yasuda T.
J. Clin. Endocrinol. Metab. 83:2497-2502(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HYPOC1 CYS-788, CHARACTERIZATION OF VARIANT HYPOC1 CYS-788.
[22]"An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor."
Chikatsu N., Fukumoto S., Suzawa M., Tanaka Y., Takeuchi Y., Takeda S., Tamura Y., Matsumoto T., Fujita T.
Clin. Endocrinol. (Oxf.) 50:537-543(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARG-27, CHARACTERIZATION OF VARIANT ARG-27, INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM.
[23]"A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia."
Okazaki R., Chikatsu N., Nakatsu M., Takeuchi Y., Ajima M., Miki J., Fujita T., Arai M., Totsuka Y., Tanaka K., Fukumoto S.
J. Clin. Endocrinol. Metab. 84:363-366(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HYPOC1 ASN-47, CHARACTERIZATION OF VARIANT HYPOC1 ASN-47.
[24]"Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis."
Stock J.L., Brown R.S., Baron J., Coderre J.A., Mancilla E., De Luca F., Ray K., Mericq M.V.
J. Clin. Endocrinol. Metab. 84:3036-3040(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HYPOC1 VAL-616, CHARACTERIZATION OF VARIANT HYPOC1 VAL-616.
[25]"A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations."
Cole D.E.C., Peltekova V.D., Rubin L.A., Hawker G.A., Vieth R., Liew C.C., Hwang D.M., Evrovski J., Hendy G.N.
Lancet 353:112-115(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SER-986, ASSOCIATION WITH SERUM LEVEL OF CALCIUM.
[26]"Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor."
Carling T., Szabo E., Bai M., Ridefelt P., Westin G., Gustavsson P., Trivedi S., Hellman P., Brown E.M., Dahl N., Rastad J.
J. Clin. Endocrinol. Metab. 85:2042-2047(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HYPERCALCIURIC HYPERCALCEMIA LEU-881, CHARACTERIZATION OF VARIANT HYPERCALCIURIC HYPERCALCEMIA LEU-881.
[27]"A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia."
Nakayama T., Minato M., Nakagawa M., Soma M., Tobe H., Aoi N., Kosuge K., Sato M., Ozawa Y., Kanmatsuse K., Kokubun S.
Endocrine 15:277-282(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHC1 GLU-557.
[28]"Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene."
Cole D.E.C., Vieth R., Trang H.M., Wong B.Y.-L., Hendy G.N., Rubin L.A.
Mol. Genet. Metab. 72:168-174(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SER-986, ASSOCIATION WITH SERUM LEVEL OF CALCIUM, PREDISPOSING FACTOR IN DISORDERS OF BONE AND MINERAL METABOLISM.
[29]"A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor."
Nagase T., Murakami T., Tsukada T., Kitamura R., Chikatsu N., Takeo H., Takata N., Yasuda H., Fukumoto S., Tanaka Y., Nagata N., Yamaguchi K., Akatsu T., Yamamoto M.
J. Clin. Endocrinol. Metab. 87:2681-2687(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HYPOC1 PHE-820, CHARACTERIZATION OF VARIANT HYPOC1 PHE-820, VARIANT GLY-990.
[30]"Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene."
Sato K., Hasegawa Y., Nakae J., Nanao K., Takahashi I., Tajima T., Shinohara N., Fujieda K.
J. Clin. Endocrinol. Metab. 87:3068-3073(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HYPOC1 PRO-125 AND GLU-843, CHARACTERIZATION OF VARIANTS HYPOC1 PRO-125 AND GLU-843.
[31]"Association between activating mutations of calcium-sensing receptor and Bartter's syndrome."
Watanabe S., Fukumoto S., Chang H., Takeuchi Y., Hasegawa Y., Okazaki R., Chikatsu N., Fujita T.
Lancet 360:692-694(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HYPOC1 TRP-131 AND GLU-843.
[32]"Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor."
Tan Y.M., Cardinal J., Franks A.H., Mun H.-C., Lewis N., Harris L.B., Prins J.B., Conigrave A.D.
J. Clin. Endocrinol. Metab. 88:605-610(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HYPOC1 LYS-604, CHARACTERIZATION OF VARIANT HYPOC1 LYS-604.
[33]"Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene."
Hendy G.N., Minutti C., Canaff L., Pidasheva S., Yang B., Nouhi Z., Zimmerman D., Wei C., Cole D.E.C.
J. Clin. Endocrinol. Metab. 88:3674-3681(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HYPOC1 LEU-788, CHARACTERIZATION OF VARIANT HYPOC1 LEU-788.
[34]"Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor."
Scillitani A., Guarnieri V., De Geronimo S., Muscarella L.A., Battista C., D'Agruma L., Bertoldo F., Florio C., Minisola S., Hendy G.N., Cole D.E.C.
J. Clin. Endocrinol. Metab. 89:5634-5638(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SER-986; GLY-990 AND GLU-1011, ASSOCIATION WITH SERUM LEVEL OF CALCIUM.
[35]"Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor."
Miyashiro K., Kunii I., Manna T.D., de Menezes Filho H.C., Damiani D., Setian N., Hauache O.M.
J. Clin. Endocrinol. Metab. 89:5936-5941(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHC1 PRO-13, CHARACTERIZATION OF VARIANT HHC1 PRO-13.
[36]"Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications."
Warner J., Epstein M., Sweet A., Singh D., Burgess J., Stranks S., Hill P., Perry-Keene D., Learoyd D., Robinson B., Birdsey P., Mackenzie E., Teh B.T., Prins J.B., Cardinal J.
J. Med. Genet. 41:155-160(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ILE-100; LYS-336 DEL; PRO-650; MET-689; SER-986; GLY-990 AND GLU-1011, INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM.
[37]"A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia."
Uckun-Kitapci A., Underwood L.E., Zhang J., Moats-Staats B.
Am. J. Med. Genet. A 132:125-129(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HYPOC1 LYS-767, VARIANT GLY-990.
[38]"Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia."
Pidasheva S., Canaff L., Simonds W.F., Marx S.J., Hendy G.N.
Hum. Mol. Genet. 14:1679-1690(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HHC1 SER-11 AND PRO-13, VARIANT ALA-14, CHARACTERIZATION OF VARIANTS HHC1 SER-11 AND PRO-13, CHARACTERIZATION OF VARIANT ALA-14.
[39]"Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism."
Wystrychowski A., Pidasheva S., Canaff L., Chudek J., Kokot F., Wiecek A., Hendy G.N.
J. Clin. Endocrinol. Metab. 90:864-870(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHC1 GLN-227, CHARACTERIZATION OF VARIANT NSHPT LEU-227, CHARACTERIZATION OF VARIANT HHC1 GLN-227.
[40]"Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor."
Leech C., Lohse P., Stanojevic V., Lechner A., Goeke B., Spitzweg C.
Biochem. Biophys. Res. Commun. 342:996-1002(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHC1 GLN-465, CHARACTERIZATION OF VARIANT HHC1 GLN-465, VARIANT SER-986.
[41]"A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone."
Mittelman S.D., Hendy G.N., Fefferman R.A., Canaff L., Mosesova I., Cole D.E., Burkett L., Geffner M.E.
J. Clin. Endocrinol. Metab. 91:2474-2479(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HYPOC1 GLN-727, CHARACTERIZATION OF VARIANT HYPOC1 GLN-727.
[42]"Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status."
Zajickova K., Vrbikova J., Canaff L., Pawelek P.D., Goltzman D., Hendy G.N.
J. Clin. Endocrinol. Metab. 92:2616-2623(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHC1 CYS-180, CHARACTERIZATION OF VARIANT HHC1 CYS-180.
[43]"Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population."
Nissen P.H., Christensen S.E., Heickendorff L., Brixen K., Mosekilde L.
J. Clin. Endocrinol. Metab. 92:4373-4379(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HHC1 ARG-21; ASN-171; GLN-221; THR-225; PHE-271; ARG-397; ARG-509; ARG-553; VAL-555; TYR-562; PHE-582; TYR-582; ASP-623; ARG-670; PHE-728; ARG-742 AND TRP-886, VARIANTS LYS-250; SER-986; GLY-990 AND GLU-1011.
[44]"An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene."
Kapoor A., Satishchandra P., Ratnapriya R., Reddy R., Kadandale J., Shankar S.K., Anand A.
Ann. Neurol. 64:158-167(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIG8 ALA-354; VAL-686; GLN-898; VAL-988 AND GLY-988, VARIANTS SER-986 AND GLY-990, TISSUE SPECIFICITY.
[45]"A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia."
Hannan F.M., Nesbit M.A., Christie P.T., Lissens W., Van der Schueren B., Bex M., Bouillon R., Thakker R.V.
Clin. Endocrinol. (Oxf.) 73:715-722(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT THR-339, CHARACTERIZATION OF VARIANT THR-339, INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM.
[46]"Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine."
Aparicio Lopez C., Anton-Martin P., Gil-Fournier B., Ramiro-Leon S., Perez-Nanclares G., Perez de Nanclares G., Martinez Menendez B., Castano L.
Eur. J. Pediatr. 171:147-150(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHC1 MET-697.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X81086 Genomic DNA. Translation: CAA56990.1.
U20759 mRNA. Translation: AAA86503.1.
U20760 mRNA. Translation: AAA86504.1.
D50855 mRNA. Translation: BAA09453.1.
S83176 mRNA. Translation: AAB46873.1.
S79217 mRNA. Translation: AAB35262.2.
S81755 mRNA. Translation: AAD14370.1.
S68032 Genomic DNA. Translation: AAB29413.2. Sequence problems.
S68033 Genomic DNA. Translation: AAB29414.1.
S68036 Genomic DNA. Translation: AAB29415.1.
DQ088967 Genomic DNA. Translation: AAY68221.1.
BC104999 mRNA. Translation: AAI05000.1.
BC112236 mRNA. Translation: AAI12237.1.
CCDSCCDS3010.1. [P41180-1]
CCDS54632.1. [P41180-2]
PIRA56715.
B56715.
RefSeqNP_000379.2. NM_000388.3. [P41180-1]
NP_001171536.1. NM_001178065.1. [P41180-2]
UniGeneHs.435615.

3D structure databases

ProteinModelPortalP41180.
SMRP41180. Positions 26-493, 603-864.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107296. 10 interactions.
DIPDIP-5975N.
IntActP41180. 1 interaction.
MINTMINT-201342.
STRING9606.ENSP00000296154.

Chemistry

BindingDBP41180.
ChEMBLCHEMBL1878.
DrugBankDB01012. Cinacalcet.
GuidetoPHARMACOLOGY54.

Protein family/group databases

TCDB9.A.14.7.2. the g-protein-coupled receptor (gpcr) family.
GPCRDBSearch...

PTM databases

PhosphoSiteP41180.

Polymorphism databases

DMDM1168781.

Proteomic databases

PaxDbP41180.
PRIDEP41180.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296154; ENSP00000296154; ENSG00000036828.
ENST00000490131; ENSP00000418685; ENSG00000036828.
GeneID846.
KEGGhsa:846.
UCSCuc003eev.4. human. [P41180-1]
uc003eew.4. human. [P41180-2]

Organism-specific databases

CTD846.
GeneCardsGC03P121820.
H-InvDBHIX0163457.
HGNCHGNC:1514. CASR.
HPAHPA039686.
MIM145980. phenotype.
239200. phenotype.
601198. phenotype.
601199. gene+phenotype.
612899. phenotype.
neXtProtNX_P41180.
Orphanet428. Autosomal dominant hypocalcemia.
263417. Bartter syndrome with hypocalcemia.
93372. Familial hypocalciuric hypercalcemia type 1.
189466. Familial isolated hypoparathyroidism due to impaired PTH secretion.
417. Neonatal severe primary hyperparathyroidism.
PharmGKBPA26097.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG295200.
HOVERGENHBG052876.
KOK04612.
OrthoDBEOG7DZ8J8.
PhylomeDBP41180.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressP41180.
BgeeP41180.
CleanExHS_CASR.
GenevestigatorP41180.

Family and domain databases

InterProIPR001828. ANF_lig-bd_rcpt.
IPR000337. GPCR_3.
IPR011500. GPCR_3_9-Cys_dom.
IPR017978. GPCR_3_C.
IPR017979. GPCR_3_CS.
IPR028082. Peripla_BP_I.
[Graphical view]
PfamPF00003. 7tm_3. 1 hit.
PF01094. ANF_receptor. 1 hit.
PF07562. NCD3G. 1 hit.
[Graphical view]
PRINTSPR00248. GPCRMGR.
SUPFAMSSF53822. SSF53822. 1 hit.
PROSITEPS00979. G_PROTEIN_RECEP_F3_1. 1 hit.
PS00980. G_PROTEIN_RECEP_F3_2. 1 hit.
PS00981. G_PROTEIN_RECEP_F3_3. 1 hit.
PS50259. G_PROTEIN_RECEP_F3_4. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCalcium-sensing_receptor.
GenomeRNAi846.
NextBio3546.
PROP41180.
SOURCESearch...

Entry information

Entry nameCASR_HUMAN
AccessionPrimary (citable) accession number: P41180
Secondary accession number(s): Q13912 expand/collapse secondary AC list , Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: November 1, 1995
Last modified: July 9, 2014
This is version 157 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries