DAAM2
entrez
23500
canonical
uniprot
Q86T65
canonical
ensembl
ENSG00000146122
resolver
ensp
ENSP00000274867
resolver
ensp
ENSP00000437808
resolver
ensp
ENSP00000488831
resolver
ensp
ENSP00000523801
resolver
ensp
ENSP00000523802
resolver
ensp
ENSP00000523803
resolver
enst
ENST00000633794
resolver
enst
ENST00000853742
resolver
enst
ENST00000853743
resolver
enst
ENST00000853744
resolver
genesymbol
DAAM2
resolver
genesymbol_syn
KIAA0381
resolver
hgnc
HGNC:18143
resolver
uniprot
A0A0J9YYF7
resolver
uniprot
G5EA45
resolver
uniprot
Q5T4T8
resolver
uniprot
Q5T4U0
resolver
uniprot
Q9NQI5
resolver
uniprot
Q9Y4G0
resolver
uniprot_entry
A0A0J9YYF7_HUMAN
resolver
uniprot_entry
DAAM2_HUMAN
resolver
uniprot_sec
G5EA45
resolver
uniprot_sec
Q5T4T8
resolver
uniprot_sec
Q5T4U0
resolver
uniprot_sec
Q9NQI5
resolver
uniprot_sec
Q9Y4G0
resolver
amino_acid_sequence
MAPRKRSHHGLGFLCCFGGSDIPEINLRDNHPLQFMEFSSPIPNAEELNIRFAELVDELDLTDKNREAMFALPPEKKWQIYCSKKKEQEDPNKLATSWPDYYIDRINSMAAMQSLYAFDEEETEMRNQVVEDLKTALRTQPMRFVTRFIELEGLTCLLNFLRSMDHATCESRIHTSLIGCIKALMNNSQGRAHVLAQPEAISTIAQSLRTENSKTKVAVLEILGAVCLVPGGHKKVLQAMLHYQVYAAERTRFQTLLNELDRSLGRYRDEVNLKTAIMSFINAVLNAGAGEDNLEFRLHLRYEFLMLGIQPVIDKLRQHENAILDKHLDFFEMVRNEDDLELARRFDMVHIDTKSASQMFELIHKKLKYTEAYPCLLSVLHHCLQMPYKRNGGYFQQWQLLDRILQQIVLQDERGVDPDLAPLENFNVKNIVNMLINENEVKQWRDQAEKFRKEHMELVSRLERKERECETKTLEKEEMMRTLNKMKDKLARESQELRQARGQVAELVAQLSELSTGPVSSPPPPGGPLTLSSSMTTNDLPPPPPPLPFACCPPPPPPPLPPGGPPTPPGAPPCLGMGLPLPQDPYPSSDVPLRKKRVPQPSHPLKSFNWVKLNEERVPGTVWNEIDDMQVFRILDLEDFEKMFSAYQRHQKELGSTEDIYLASRKVKELSVIDGRRAQNCIILLSKLKLSNEEIRQAILKMDEQEDLAKDMLEQLLKFIPEKSDIDLLEEHKHEIERMARADRFLYEMSRIDHYQQRLQALFFKKKFQERLAEAKPKVEAILLASRELVRSKRLRQMLEVILAIGNFMNKGQRGGAYGFRVASLNKIADTKSSIDRNISLLHYLIMILEKHFPDILNMPSELQHLPEAAKVNLAELEKEVGNLRRGLRAVEVELEYQRRQVREPSDKFVPVMSDFITVSSFSFSELEDQLNEARDKFAKALMHFGEHDSKMQPDEFFGIFDTFLQAFSEARQDLEAMRRRKEEEERRARMEAMLKEQRERERWQRQRKVLAAGSSLEEGGEFDDLVSALRSGEVFDKDLCKLKRSRKRSGSQALEVTRERAINRLNY
uniprot
proteins
disease_involvement
DISEASE: Nephrotic syndrome 24 (NPHS24) [MIM:619263]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS24 is an autosomal recessive, slowly progressive form. Most patients eventually develop end-stage renal disease. {ECO:0000269|PubMed:33232676}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Key regulator of the Wnt signaling pathway, which is required for various processes during development, such as dorsal patterning, determination of left/right symmetry or myelination in the central nervous system. Acts downstream of Wnt ligands and upstream of beta-catenin (CTNNB1). Required for canonical Wnt signaling pathway during patterning in the dorsal spinal cord by promoting the aggregation of Disheveled (Dvl) complexes, thereby clustering and formation of Wnt receptor signalosomes and potentiating Wnt activity. During dorsal patterning of the spinal cord, inhibits oligodendrocytes differentiation via interaction with PIP5K1A. Also regulates non-canonical Wnt signaling pathway. Acts downstream of PITX2 in the developing gut and is required for left/right asymmetry within dorsal mesentery: affects mesenchymal condensation by lengthening cadherin-based junctions through WNT5A and non-canonical Wnt signaling, inducing polarized condensation in the left dorsal mesentery necessary to initiate gut rotation. Together with DAAM1, required for myocardial maturation and sarcomere assembly. Is a regulator of actin nucleation and elongation, filopodia formation and podocyte migration (PubMed:33232676). {ECO:0000250|UniProtKB:Q80U19, ECO:0000269|PubMed:33232676}.
uniprot
proteins
mass_dalton
123499
uniprot
proteins
protein_family
Formin homology family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
33232676
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
1068
uniprot
proteins