Transmembrane protein 53 (TMEM53)

Homo sapiens — UniProt Q6P2H8

Gene: TMEM53Homo sapiensSwissProt reviewed

About Transmembrane protein 53

Transmembrane protein 53 (TMEM53) is a protein from Homo sapiens identified by UniProt accession Q6P2H8, 277 residues long. MolForge cross-references it against 0 known binders and 237 disease associations.

Target properties

Protein nameTransmembrane protein 53
UniProt accessionQ6P2H8
GeneTMEM53
OrganismHomo sapiens
Length277 residues
Molecular weight—
EC numbers—
Target classUNCLASSIFIED
Subcellular location—
Keywords—

Druggability

Target tractability assessment (Open Targets + pocket analysis). No approved drug

Druggability tierMEDIUM
Druggability score—
Pocket score—
Max clinical phase—

Disease associations (237)

Diseases linked to this target (Open Targets).

  • craniotubular dysplasia, Ikegawa type · score 0.52
  • leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy · score 0.42
  • brachydactylous dwarfism, Mseleni type · score 0.10
  • X-linked non-syndromic intellectual disability · score 0.09
  • Bartter syndrome · score 0.09
  • SHOX-related short stature · score 0.09
  • heart rate response to recovery post exercise · score 0.09
  • heart rate response to exercise · score 0.09
  • chromosome 22q11.2 deletion syndrome, distal · score 0.07
  • Hyaluronidase deficiency · score 0.06

3D Structure (1)

Experimental (PDB) and predicted (AlphaFold) structures for this protein.

StructureSourceMethodMean pLDDTResolution (Å)
AF-Q6P2H8-F1alphafoldPREDICTED89.43—

Amino-acid sequence (277 residues)

MASAELDYTI EIPDQPCWSQ KNSPSPGGKE AETRQPVVIL LGWGGCKDKN LAKYSAIYHK RGCIVIRYTA PWHMVFFSES LGIPSLRVLA QKLLELLFDY EIEKEPLLFH VFSNGGVMLY RYVLELLQTR RFCRLRVVGT IFDSAPGDSN LVGALRALAA ILERRAAMLR LLLLVAFALV VVLFHVLLAP ITALFHTHFY DRLQDAGSRW PELYLYSRAD EVVLARDIER MVEARLARRV LARSVDFVSS AHVSHLRDYP TYYTSLCVDF MRNCVRC

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Quick facts

UniProtQ6P2H8
GeneTMEM53
OrganismHomo sapiens
Length277
Binders0
Diseases237
View on UniProt