Gene Gene information from NCBI Gene database.
Entrez ID 29953
Gene name Thyrotropin releasing hormone degrading enzyme
Gene symbol TRHDE
Synonyms (NCBI Gene)
PAP-IIPGPEP2TRH-DE
Chromosome 12
Chromosome location 12q21.1
Summary This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008]
miRNA miRNA information provided by mirtarbase database.
38
miRTarBase ID miRNA Experiments Reference
MIRT1452507 hsa-miR-148a CLIP-seq
MIRT1452508 hsa-miR-148b CLIP-seq
MIRT1452509 hsa-miR-152 CLIP-seq
MIRT1452510 hsa-miR-223 CLIP-seq
MIRT1452511 hsa-miR-3668 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004177 Function Aminopeptidase activity IEA
GO:0004177 Function Aminopeptidase activity TAS 10491199
GO:0005615 Component Extracellular space IBA
GO:0005886 Component Plasma membrane TAS 10491199
GO:0006508 Process Proteolysis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606950 30748 ENSG00000072657
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKU6
Protein name Thyrotropin-releasing hormone-degrading ectoenzyme (TRH-DE) (TRH-degrading ectoenzyme) (EC 3.4.19.6) (Pyroglutamyl-peptidase II) (PAP-II) (TRH-specific aminopeptidase) (Thyroliberinase)
Protein function Specific inactivation of TRH after its release.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17900 Peptidase_M1_N 146 331 Domain
PF01433 Peptidase_M1 368 591 Peptidase family M1 domain Domain
PF11838 ERAP1_C 678 1005 ERAP1-like C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in brain.
Sequence
MGEDDAALRAGSRGLSDPWADSVGVRPRTTERHIAVHKRLVLAFAVSLVALLAVTMLAVL
LSLRFDECGASATPGADGGPSGFPERGGNGSLPGSARRNHHAGGDSWQPEAGGVASPGTT
SAQPPSEEEREPWEPWTQLRLSGHLKPLHYNLMLTAFMENFTFSGEVNVEIACRNATRYV
VLHASRVAVEKVQLAEDRAFGAVPVAGFFLYPQTQVLVVVLNRTLDAQRNYNLKIIYNAL
IENELLGFFRSSYVLHGERRFLGVTQFSPTHARKAFPCFDEPIYKATFKISIKHQATYLS
LSNMPVETSVFEEDGWVTDHFSQTPLMSTYY
LAWAICNFTYRETTTKSGVVVRLYARPDA
IRRGSGDYALHITKRLIEFYEDYFKVPYSLPKLDLLAVPKHPYAAMENWGLSIFVEQRIL
LDPSVSSISYLLDVTMVIVHEICHQWFGDLVTPVWWEDVWLKEGFAHYFEFVGTDYLYPG
WNMEKQRFLTDVLHEVMLLDGLASSHPVSQEVLQATDIDRVFDWIAYKKGAALIRMLANF
MGHSVFQRGLQDYLTIHKYGNAARNDLWNTLSEALKRNGKYVNIQEVMDQW
TLQMGYPVI
TILGNTTAENRIIITQQHFIYDISAKTKALKLQNNSYLWQIPLTIVVGNRSHVSSEAIIW
VSNKSEHHRITYLDKGSWLLGNINQTGYFRVNYDLRNWRLLIDQLIRNHEVLSVSNRAGL
IDDAFSLARAGYLPQNIPLEIIRYLSEEKDFLPWHAASRALYPLDKLLDRMENYNIFNEY
ILKQVATTYIKLGWPKNNFNGSLVQASYQHEELRREVIMLACSFGNKHCHQQASTLISDW
ISSNRNRIPLNVRDIVYCTGVSLLDEDVWEFIWMKFHSTTAVSEKKILLEALTCSDDRNL
LNRLLNLSLNSEVVLDQDAIDVIIHVARNPHGRDLAWKFFRDKWKILNTRYGEALFMNSK
LISGVTEFLNTEGELKELKNFMKNYDGVAAASFSRAVETVEANVR
WKMLYQDELFQWLGK
ALRH
Sequence length 1024
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ULCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arthritis Rheumatoid Associate 21452313
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 37247276
★☆☆☆☆
Found in Text Mining only