Gene Gene information from NCBI Gene database.
Entrez ID 643853
Gene name Transmembrane protein with metallophosphoesterase domain
Gene symbol TMPPE
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p22.3
miRNA miRNA information provided by mirtarbase database.
691
miRTarBase ID miRNA Experiments Reference
MIRT612364 hsa-miR-548g-3p HITS-CLIP 23313552
MIRT676550 hsa-miR-329-3p HITS-CLIP 23313552
MIRT676549 hsa-miR-362-3p HITS-CLIP 23313552
MIRT608260 hsa-miR-603 HITS-CLIP 23313552
MIRT676547 hsa-miR-3941 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0016020 Component Membrane IEA
GO:0016787 Function Hydrolase activity IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZT21
Protein name Transmembrane protein with metallophosphoesterase domain (EC 3.1.-.-)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00149 Metallophos 207 395 Calcineurin-like phosphoesterase Domain
Sequence
MAIFRQLSLGAKATLAAVTVFVSMIASRSYLAESLELRAWRWLLRLQLALFVNSLLLIGS
LYIWRSTVSNLCHSPAAESTCFQLWKVVVLAFLALAHSSFFTMFFLVAEEPYLFSLAAYS
CLGAYIIMLFFLFILSGMEQAYQLLAWRSGRVVGSLEKTRKLVLRPALAVGVTAVLSVAG
ILNAAQPPAVKTVEVPIHQLPASMNNLKIVLLSDIHLGPTVGRTKMEMFVRMVNVLEPDI
TVIVGDLSDSEASVLRTAVAPLGQLHSHLGAYFVTGNHEYYTSDVSNWFALLESLHVQPL
HNENVKISATRAQRGGGGSGSGSEDEDWICLAGVDDIEADILHYSGHGMDLDKALEGCSP
DHTIILLAHQPLAAKRALQARPDINLILSGHTHAG
QIFPLNVAAYLLNPFFAGLYQVAQA
TFVYVSPGTAYYGIPMRLGSRAEITELILQRSP
Sequence length 453
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
JUVENILE GM1 GANGLIOSIDOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS IV Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE IVB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Gangliosidosis GM1 Gangliosidosis CLINVAR_DG 29160035, 8198123, 8199591
★☆☆☆☆
Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 1 (disorder) Gangliosidosis CLINVAR_DG 8198123
★☆☆☆☆
Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 2 Gangliosidosis CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 3 Gangliosidosis CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression BEFREE 29317602
★☆☆☆☆
Found in Text Mining only
Mucopolysaccharidosis type IVB Mucopolysaccharidosis CLINVAR_DG 21497194, 29160035, 8198123, 8199591
★★☆☆☆
Found in Text Mining + Unknown/Other Associations