PLCB4
entrez
5332
canonical
uniprot
Q15147
canonical
ensembl
ENSG00000101333
resolver
ensp
ENSP00000367734
resolver
ensp
ENSP00000508595
resolver
ensp
ENSP00000508600
resolver
ensp
ENSP00000508624
resolver
ensp
ENSP00000508650
resolver
ensp
ENSP00000508676
resolver
ensp
ENSP00000508726
resolver
ensp
ENSP00000509212
resolver
ensp
ENSP00000510118
resolver
ensp
ENSP00000510302
resolver
ensp
ENSP00000590711
resolver
ensp
ENSP00000616877
resolver
ensp
ENSP00000616880
resolver
ensp
ENSP00000616882
resolver
enst
ENST00000378473
resolver
enst
ENST00000685568
resolver
enst
ENST00000920652
resolver
enst
ENST00000946818
resolver
enst
ENST00000946821
resolver
genesymbol
PLCB4
resolver
hgnc
HGNC:9059
resolver
uniprot
A0A7P0MRI8
resolver
uniprot
B7ZLK6
resolver
uniprot
E2QRH8
resolver
uniprot
Q17R56
resolver
uniprot
Q5JYS8
resolver
uniprot
Q5JYS9
resolver
uniprot
Q5JYT0
resolver
uniprot
Q5JYT3
resolver
uniprot
Q5JYT4
resolver
uniprot
Q9BQW5
resolver
uniprot
Q9BQW6
resolver
uniprot
Q9BQW8
resolver
uniprot
Q9UJQ2
resolver
uniprot_entry
A0A7P0MRI8_HUMAN
resolver
uniprot_entry
PLCB4_HUMAN
resolver
uniprot_sec
B7ZLK6
resolver
uniprot_sec
E2QRH8
resolver
uniprot_sec
Q17R56
resolver
uniprot_sec
Q5JYS8
resolver
uniprot_sec
Q5JYS9
resolver
uniprot_sec
Q5JYT0
resolver
uniprot_sec
Q5JYT3
resolver
uniprot_sec
Q5JYT4
resolver
uniprot_sec
Q9BQW5
resolver
uniprot_sec
Q9BQW6
resolver
uniprot_sec
Q9BQW8
resolver
uniprot_sec
Q9UJQ2
resolver
amino_acid_sequence
MAKPYEFNWQKEVPSFLQEGAVFDRYEEESFVFEPNCLFKVDEFGFFLTWRSEGKEGQVLECSLINSIRSGAIPKDPKILAALEAVGKSENDLEGRIVCVCSGTDLVNISFTYMVAENPEVTKQWVEGLRSIIHNFRANNVSPMTCLKKHWMKLAFMTNTNGKIPVRSITRTFASGKTEKVIFQALKELGLPSGKNDEIEPTAFSYEKFYELTQKICPRTDIEDLFKKINGDKTDYLTVDQLVSFLNEHQRDPRLNEILFPFYDAKRAMQIIEMYEPDEDLKKKGLISSDGFCRYLMSDENAPVFLDRLELYQEMDHPLAHYFISSSHNTYLTGRQFGGKSSVEMYRQVLLAGCRCVELDCWDGKGEDQEPIITHGKAMCTDILFKDVIQAIKETAFVTSEYPVILSFENHCSKYQQYKMSKYCEDLFGDLLLKQALESHPLEPGRALPSPNDLKRKILIKNKRLKPEVEKKQLEALRSMMEAGESASPANILEDDNEEEIESADQEEEAHPEFKFGNELSADDLGHKEAVANSVKKGLVTVEDEQAWMASYKYVGATTNIHPYLSTMINYAQPVKFQGFHVAEERNIHYNMSSFNESVGLGYLKTHAIEFVNYNKRQMSRIYPKGGRVDSSNYMPQIFWNAGCQMVSLNYQTPDLAMQLNQGKFEYNGSCGYLLKPDFMRRPDRTFDPFSETPVDGVIAATCSVQVISGQFLSDKKIGTYVEVDMYGLPTDTIRKEFRTRMVMNNGLNPVYNEESFVFRKVILPDLAVLRIAVYDDNNKLIGQRILPLDGLQAGYRHISLRNEGNKPLSLPTIFCNIVLKTYVPDGFGDIVDALSDPKKFLSITEKRADQMRAMGIETSDIADVPSDTSKNDKKGKANTAKANVTPQSSSELRPTTTAALASGVEAKKGIELIPQVRIEDLKQMKAYLKHLKKQQKELNSLKKKHAKEHSTMQKLHCTQVDKIVAQYDKEKSTHEKILEKAMKKKGGSNCLEMKKETEIKIQTLTSDHKSKVKEIVAQHTKEWSEMINTHSAEEQEIRDLHLSQQCELLKKLLINAHEQQTQQLKLSHDRESKEMRAHQAKISMENSKAISQDKSIKNKAERERRVRELNSSNTKKFLEERKRLAMKQSKEMDQLKKVQLEHLEFLEKQNEQAKEMQQMVKLEAEMDRRPATVV
uniprot
proteins
disease_involvement
DISEASE: Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669]: An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. {ECO:0000269|PubMed:22560091, ECO:0000269|PubMed:23315542, ECO:0000269|PubMed:28328130, ECO:0000269|PubMed:32201334, ECO:0000269|PubMed:35170830, ECO:0000269|PubMed:35284927}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Auriculocondylar syndrome 2B (ARCND2B) [MIM:620458]: An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. {ECO:0000269|PubMed:23315542, ECO:0000269|PubMed:23913798, ECO:0000269|PubMed:27007857, ECO:0000269|PubMed:35170830}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.4.11
uniprot
proteins
function
FUNCTION: Activated phosphatidylinositol-specific phospholipase C enzymes catalyze the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) involved in G protein-coupled receptor signaling pathways. PLCB4 is a direct effector of the endothelin receptor signaling pathway that plays an essential role in lower jaw and middle ear structures development (PubMed:35284927). {ECO:0000250|UniProtKB:Q07722, ECO:0000269|PubMed:35284927}.
uniprot
proteins
mass_dalton
134464
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22560091
uniprot
proteins
pubmed
23315542
uniprot
proteins
pubmed
23913798
uniprot
proteins
pubmed
27007857
uniprot
proteins
pubmed
28328130
uniprot
proteins
pubmed
32201334
uniprot
proteins
pubmed
35170830
uniprot
proteins
pubmed
35284927
uniprot
proteins
pubmed
8530101
uniprot
proteins
sequence_length
1175
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:35284927}; Peripheral membrane protein {ECO:0000305|PubMed:35284927}; Cytoplasmic side {ECO:0000305|PubMed:35284927}.
uniprot
proteins