TM2D3
entrez
80213
canonical
uniprot
Q9BRN9
canonical
ensembl
ENSG00000184277
resolver
ensp
ENSP00000327584
resolver
ensp
ENSP00000330433
resolver
ensp
ENSP00000402179
resolver
ensp
ENSP00000454131
resolver
enst
ENST00000428002
resolver
enst
ENST00000559107
resolver
genesymbol
TM2D3
resolver
genesymbol_syn
BLP2
resolver
hgnc
HGNC:24128
resolver
uniprot
B2RDK9
resolver
uniprot
B4DLL2
resolver
uniprot
E7EPS7
resolver
uniprot
H0YNS4
resolver
uniprot
Q9H046
resolver
uniprot
Q9H651
resolver
uniprot_entry
B4DLL2_HUMAN
resolver
uniprot_entry
E7EPS7_HUMAN
resolver
uniprot_entry
H0YNS4_HUMAN
resolver
uniprot_entry
TM2D3_HUMAN
resolver
uniprot_sec
B2RDK9
resolver
uniprot_sec
Q9H046
resolver
uniprot_sec
Q9H651
resolver
amino_acid_sequence
MAGGVLPLRGLRALCRVLLFLSQFCILSGGEQSQALAQSIKDPGPTRTFTVVPRAAESTEIPPYVMKCPSNGLCSRLPADCIDCTTNFSCTYGKPVTFDCAVKPSVTCVDQDFKSQKNFIINMTCRFCWQLPETDYECTNSTSCMTVSCPRQRYPANCTVRDHVHCLGNRTFPKMLYCNWTGGYKWSTALALSITLGGFGADRFYLGQWREGLGKLFSFGGLGIWTLIDVLLIGVGYVGPADGSLYI
uniprot
proteins
disease_involvement
DISEASE: Neurocardiorenal malformation syndrome (NCRMS) [MIM:621379]: An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay with absent speech and autistic features, in association with microcephaly, dysmorphic facial features and multiorgan involvement, including cardiac and renal malformations. {ECO:0000269|PubMed:40449487}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Positive regulator of Notch signaling, required for activation of NOTCH1 intracellular processing and NOTCH1 localization to the cell membrane. {ECO:0000269|PubMed:27764101, ECO:0000269|PubMed:38016980}.
uniprot
proteins
mass_dalton
27118
uniprot
proteins
protein_family
TM2 family
uniprot
proteins
pubmed
11278849
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
27764101
uniprot
proteins
pubmed
27893753
uniprot
proteins
pubmed
38016980
uniprot
proteins
pubmed
40449487
uniprot
proteins
sequence_length
247
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:38016980}. Cytoplasmic vesicle {ECO:0000269|PubMed:38016980}. Endoplasmic reticulum {ECO:0000269|PubMed:40449487}. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 180..200; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 216..236; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins