NPR2
entrez
4882
canonical
uniprot
P20594
canonical
ensembl
ENSG00000159899
resolver
ensp
ENSP00000341083
resolver
ensp
ENSP00000563592
resolver
genesymbol
NPR2
resolver
genesymbol_syn
ANPRB
resolver
hgnc
HGNC:7944
resolver
uniprot
B0ZBF2
resolver
uniprot
B0ZBF3
resolver
uniprot
D3DRP3
resolver
uniprot
D3DRP4
resolver
uniprot
O60871
resolver
uniprot
Q4VAK7
resolver
uniprot
Q5TCV2
resolver
uniprot
Q8TA93
resolver
uniprot
Q9UQ50
resolver
uniprot_entry
ANPRB_HUMAN
resolver
uniprot_sec
B0ZBF2
resolver
uniprot_sec
B0ZBF3
resolver
uniprot_sec
D3DRP3
resolver
uniprot_sec
D3DRP4
resolver
uniprot_sec
O60871
resolver
uniprot_sec
Q4VAK7
resolver
uniprot_sec
Q5TCV2
resolver
uniprot_sec
Q8TA93
resolver
uniprot_sec
Q9UQ50
resolver
amino_acid_sequence
MALPSLLLLVAALAGGVRPPGARNLTLAVVLPEHNLSYAWAWPRVGPAVALAVEALGRALPVDLRFVSSELEGACSEYLAPLSAVDLKLYHDPDLLLGPGCVYPAASVARFASHWRLPLLTAGAVASGFSAKNDHYRTLVRTGPSAPKLGEFVVTLHGHFNWTARAALLYLDARTDDRPHYFTIEGVFEALQGSNLSVQHQVYAREPGGPEQATHFIRANGRIVYICGPLEMLHEILLQAQRENLTNGDYVFFYLDVFGESLRAGPTRATGRPWQDNRTREQAQALREAFQTVLVITYREPPNPEYQEFQNRLLIRAREDFGVELGPSLMNLIAGCFYDGILLYAEVLNETIQEGGTREDGLRIVEKMQGRRYHGVTGLVVMDKNNDRETDFVLWAMGDLDSGDFQPAAHYSGAEKQIWWTGRPIPWVKGAPPSDNPPCAFDLDDPSCDKTPLSTLAIVALGTGITFIMFGVSSFLIFRKLMLEKELASMLWRIRWEELQFGNSERYHKGAGSRLTLSLRGSSYGSLMTAHGKYQIFANTGHFKGNVVAIKHVNKKRIELTRQVLFELKHMRDVQFNHLTRFIGACIDPPNICIVTEYCPRGSLQDILENDSINLDWMFRYSLINDLVKGMAFLHNSIISSHGSLKSSNCVVDSRFVLKITDYGLASFRSTAEPDDSHALYAKKLWTAPELLSGNPLPTTGMQKADVYSFGIILQEIALRSGPFYLEGLDLSPKEIVQKVRNGQRPYFRPSIDRTQLNEELVLLMERCWAQDPAERPDFGQIKGFIRRFNKEGGTSILDNLLLRMEQYANNLEKLVEERTQAYLEEKRKAEALLYQILPHSVAEQLKRGETVQAEAFDSVTIYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAIIDNFDVYKVETIGDAYMVVSGLPGRNGQRHAPEIARMALALLDAVSSFRIRHRPHDQLRLRIGVHTGPVCAGVVGLKMPRYCLFGDTVNTASRMESNGQALKIHVSSTTKDALDELGCFQLELRGDVEMKGKGKMRTYWLLGERKGPPGLL
uniprot
proteins
disease_involvement
DISEASE: Acromesomelic dysplasia 1 (AMD1) [MIM:602875]: A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD1 is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. All skeletal elements are present but show abnormal rates of linear growth. {ECO:0000269|PubMed:15146390, ECO:0000269|PubMed:17652215, ECO:0000269|PubMed:26980729}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923]: An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. {ECO:0000269|PubMed:22870295, ECO:0000269|PubMed:23827346, ECO:0000269|PubMed:24057292, ECO:0000269|PubMed:24259409}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Short stature with non-specific skeletal abnormalities 1 (SNSK1) [MIM:616255]: An autosomal dominant condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. Some SNSK1 patients show delayed bone age. {ECO:0000269|PubMed:24001744, ECO:0000269|PubMed:24471569}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.6.1.2
uniprot
proteins
function
FUNCTION: Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth. {ECO:0000269|PubMed:15146390, ECO:0000269|PubMed:1672777, ECO:0000269|PubMed:24001744, ECO:0000269|PubMed:24471569, ECO:0000269|PubMed:26980729}.
uniprot
proteins
mass_dalton
117022
uniprot
proteins
mutagenesis
MUTAGEN 24; /note="N->D,Q: Decreased glycosylation. Decreased guanylate cyclase activity."; /evidence="ECO:0000269|PubMed:26980729
uniprot
proteins
post_translational_modification
PTM: Phosphorylated (PubMed:26980729). Phosphorylation of the protein kinase-like domain is required for full activation by CNP (By similarity). {ECO:0000250|UniProtKB:P16067, ECO:0000269|PubMed:26980729}.; PTM: Glycosylated. {ECO:0000269|PubMed:26980729}.
uniprot
proteins
protein_family
Adenylyl cyclase class-4/guanylyl cyclase family
uniprot
proteins
pubmed
10073597
uniprot
proteins
pubmed
10082481
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15146390
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1660465
uniprot
proteins
pubmed
1672777
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
17652215
uniprot
proteins
pubmed
20977274
uniprot
proteins
pubmed
22870295
uniprot
proteins
pubmed
23827346
uniprot
proteins
pubmed
24001744
uniprot
proteins
pubmed
24057292
uniprot
proteins
pubmed
24259409
uniprot
proteins
pubmed
24471569
uniprot
proteins
pubmed
2570358
uniprot
proteins
pubmed
26980729
uniprot
proteins
sequence_length
1047
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24001744, ECO:0000269|PubMed:26980729}; Single-pass type I membrane protein {ECO:0000305|PubMed:26980729}.
uniprot
proteins
transmembrane_region
TRANSMEM 459..478; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins