TREH (trehalase) - Rat Genome Database

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Gene: TREH (trehalase) Homo sapiens
Analyze
Symbol: TREH
Name: trehalase
RGD ID: 736593
HGNC Page HGNC
Description: Enables alpha,alpha-trehalase activity. Involved in trehalose catabolic process. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha,alpha-trehalase; alpha,alpha-trehalose glucohydrolase; MGC129621; TRE; TREA; trehalase (brush-border membrane glycoprotein); TREHD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TREHP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11118,657,316 - 118,679,690 (-)EnsemblGRCh38hg38GRCh38
GRCh3811118,657,316 - 118,679,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711118,528,026 - 118,550,359 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,034,152 - 118,055,591 (-)NCBINCBI36hg18NCBI36
Build 3411118,034,170 - 118,055,592NCBI
Celera11115,689,705 - 115,711,140 (-)NCBI
Cytogenetic Map11q23.3NCBI
HuRef11114,466,776 - 114,488,212 (-)NCBIHuRef
CHM1_111118,415,590 - 118,437,007 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:2619709   PMID:4737205   PMID:8125298   PMID:8773341   PMID:9427547   PMID:12477932   PMID:14702039   PMID:16344560   PMID:19056867   PMID:19126402   PMID:20379614   PMID:20881960  
PMID:22369735   PMID:22951725   PMID:23376485   PMID:23468175   PMID:24625756   PMID:26156397   PMID:27701424   PMID:28514442   PMID:28981117  


Genomics

Comparative Map Data
TREH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11118,657,316 - 118,679,690 (-)EnsemblGRCh38hg38GRCh38
GRCh3811118,657,316 - 118,679,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711118,528,026 - 118,550,359 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,034,152 - 118,055,591 (-)NCBINCBI36hg18NCBI36
Build 3411118,034,170 - 118,055,592NCBI
Celera11115,689,705 - 115,711,140 (-)NCBI
Cytogenetic Map11q23.3NCBI
HuRef11114,466,776 - 114,488,212 (-)NCBIHuRef
CHM1_111118,415,590 - 118,437,007 (-)NCBICHM1_1
Treh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,584,530 - 44,597,602 (+)NCBIGRCm39mm39
GRCm39 Ensembl944,584,530 - 44,597,602 (+)Ensembl
GRCm38944,673,233 - 44,686,305 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,673,233 - 44,686,305 (+)EnsemblGRCm38mm10GRCm38
MGSCv37944,481,321 - 44,494,387 (+)NCBIGRCm37mm9NCBIm37
MGSCv36944,424,233 - 44,437,299 (+)NCBImm8
Celera941,937,586 - 41,950,678 (+)NCBICelera
Cytogenetic Map9A5.2NCBI
Treh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2844,990,182 - 45,003,881 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl844,990,182 - 45,003,540 (+)Ensembl
Rnor_6.0848,983,802 - 48,998,072 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl848,983,802 - 48,997,191 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,602,069 - 47,615,939 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,631,777 - 47,645,166 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1847,648,535 - 47,653,735 (+)NCBI
Celera844,575,089 - 44,588,475 (+)NCBICelera
Cytogenetic Map8q22NCBI
Treh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541219,801,376 - 19,814,305 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541219,801,153 - 19,815,394 (-)NCBIChiLan1.0ChiLan1.0
TREH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111117,426,597 - 117,448,445 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,426,597 - 117,448,445 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011113,496,561 - 113,519,230 (-)NCBIMhudiblu_PPA_v0panPan3
TREH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1515,085,038 - 15,090,667 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl515,071,802 - 15,090,522 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha515,117,162 - 15,143,068 (+)NCBI
ROS_Cfam_1.0515,008,145 - 15,033,852 (+)NCBI
UMICH_Zoey_3.1515,146,317 - 15,172,252 (+)NCBI
UNSW_CanFamBas_1.0515,050,103 - 15,075,787 (+)NCBI
UU_Cfam_GSD_1.0515,090,269 - 15,119,451 (+)NCBI
Treh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947100,766,576 - 100,780,634 (-)NCBI
SpeTri2.0NW_0049365423,688,086 - 3,702,067 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TREH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl945,949,894 - 45,965,341 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1945,949,891 - 45,965,372 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2950,918,880 - 50,924,307 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TREH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11110,053,372 - 110,093,741 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1110,053,438 - 110,081,748 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604315,961,383 - 15,983,482 (+)NCBIVero_WHO_p1.0
Treh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478414,064,161 - 14,083,871 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH121711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,550,343 - 118,550,569UniSTSGRCh37
Build 3611118,055,553 - 118,055,779RGDNCBI36
Celera11115,711,102 - 115,711,328RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,488,174 - 114,488,400UniSTS
TNG Radiation Hybrid Map1154869.0UniSTS
D11S3550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,535,513 - 118,535,613UniSTSGRCh37
Build 3611118,040,723 - 118,040,823RGDNCBI36
Celera11115,696,277 - 115,696,377RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,473,348 - 114,473,448UniSTS
RH11874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,528,532 - 118,528,655UniSTSGRCh37
Build 3611118,033,742 - 118,033,865RGDNCBI36
Celera11115,689,295 - 115,689,418RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,466,366 - 114,466,489UniSTS
GeneMap99-GB4 RH Map11381.98UniSTS
D11S2274E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,528,553 - 118,528,734UniSTSGRCh37
Build 3611118,033,763 - 118,033,944RGDNCBI36
Celera11115,689,316 - 115,689,497RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,466,387 - 114,466,568UniSTS
GeneMap99-GB4 RH Map11383.4UniSTS
D11S797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,535,793 - 118,536,006UniSTSGRCh37
Build 3611118,041,003 - 118,041,216RGDNCBI36
Celera11115,696,557 - 115,696,770RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,473,628 - 114,473,841UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2846
Count of miRNA genes:836
Interacting mature miRNAs:998
Transcripts:ENST00000264029, ENST00000397925, ENST00000525958, ENST00000527558, ENST00000529101, ENST00000530256, ENST00000531295
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 108 16 16 94 16 60 40 1
Low 793 214 703 364 71 350 520 49 483 202 545 406 17 501 227
Below cutoff 1476 2057 965 215 462 90 3219 1809 3153 114 780 1079 132 691 2136 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000264029   ⟹   ENSP00000264029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,657,316 - 118,679,650 (-)Ensembl
RefSeq Acc Id: ENST00000397925   ⟹   ENSP00000381020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,658,269 - 118,679,666 (-)Ensembl
RefSeq Acc Id: ENST00000527558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,662,731 - 118,679,690 (-)Ensembl
RefSeq Acc Id: ENST00000531295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,659,809 - 118,679,646 (-)Ensembl
RefSeq Acc Id: ENST00000613915   ⟹   ENSP00000477923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,658,232 - 118,679,650 (-)Ensembl
RefSeq Acc Id: NM_001301065   ⟹   NP_001287994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,657,316 - 118,679,650 (-)NCBI
CHM1_111118,415,590 - 118,437,007 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007180   ⟹   NP_009111
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,657,316 - 118,679,650 (-)NCBI
GRCh3711118,528,942 - 118,550,381 (-)RGD
Build 3611118,034,152 - 118,055,591 (-)NCBI Archive
Celera11115,689,705 - 115,711,140 (-)RGD
HuRef11114,466,776 - 114,488,212 (-)ENTREZGENE
CHM1_111118,415,590 - 118,437,007 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009111   ⟸   NM_007180
- Peptide Label: isoform 1 precursor
- UniProtKB: O43280 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001287994   ⟸   NM_001301065
- Peptide Label: isoform 2 precursor
- UniProtKB: O43280 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000477923   ⟸   ENST00000613915
RefSeq Acc Id: ENSP00000264029   ⟸   ENST00000264029
RefSeq Acc Id: ENSP00000381020   ⟸   ENST00000397925

Promoters
RGD ID:7222327
Promoter ID:EPDNEW_H16910
Type:initiation region
Name:TREH_1
Description:trehalase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,679,650 - 118,679,710EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
NM_007180.3(TREH):c.90-9_106del deletion alpha, alpha-Trehalase deficiency [RCV000578124] Chr11:118663423..118663448 [GRCh38]
Chr11:118534132..118534157 [GRCh37]
Chr11:11q23.3
pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_007180.3(TREH):c.1345T>C (p.Tyr449His) single nucleotide variant not provided [RCV000421446] Chr11:118659457 [GRCh38]
Chr11:118530166 [GRCh37]
Chr11:11q23.3
likely benign
NM_007180.3(TREH):c.419A>G (p.Lys140Arg) single nucleotide variant not provided [RCV000432910] Chr11:118662885 [GRCh38]
Chr11:118533594 [GRCh37]
Chr11:11q23.3
likely benign
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_007180.3(TREH):c.1734= (p.Leu578=) variation not provided [RCV000947391] Chr11:118658307 [GRCh38]
Chr11:118529017 [GRCh37]
Chr11:11q23.3
benign
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Immunodeficiency 17 [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28, autosomal recessive [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 17 [RCV001313154]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28, autosomal recessive [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_007180.3(TREH):c.1748_*1dup (p.Trp583_Ter584=) duplication alpha, alpha-Trehalase deficiency [RCV001334647] Chr11:118658287..118658288 [GRCh38]
Chr11:118528997..118528998 [GRCh37]
Chr11:11q23.3
pathogenic
NM_007180.3(TREH):c.926G>A (p.Trp309Ter) single nucleotide variant alpha, alpha-Trehalase deficiency [RCV001334648] Chr11:118660715 [GRCh38]
Chr11:118531424 [GRCh37]
Chr11:11q23.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12266 AgrOrtholog
COSMIC TREH COSMIC
Ensembl Genes ENSG00000118094 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264029 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381020 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477923 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264029 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397925 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000613915 UniProtKB/TrEMBL
Gene3D-CATH 1.50.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000118094 GTEx
HGNC ID HGNC:12266 ENTREZGENE
Human Proteome Map TREH Human Proteome Map
InterPro 6-hairpin_glycosidase_sf UniProtKB/Swiss-Prot
  6hp_glycosidase-like_sf UniProtKB/Swiss-Prot
  Glyco_hydro_37 UniProtKB/Swiss-Prot
  Glyco_hydro_37_CS UniProtKB/Swiss-Prot
KEGG Report hsa:11181 UniProtKB/Swiss-Prot
NCBI Gene 11181 ENTREZGENE
OMIM 275360 OMIM
  612119 OMIM
PANTHER PTHR23403 UniProtKB/Swiss-Prot
Pfam Trehalase UniProtKB/Swiss-Prot
PharmGKB PA36946 PharmGKB
PRINTS GLHYDRLASE37 UniProtKB/Swiss-Prot
PROSITE TREHALASE_1 UniProtKB/Swiss-Prot
  TREHALASE_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48208 UniProtKB/Swiss-Prot
UniProt A0A087WTJ4_HUMAN UniProtKB/TrEMBL
  L0R6S2_HUMAN UniProtKB/TrEMBL
  O43280 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q32MB9 UniProtKB/Swiss-Prot
  Q53FY8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 TREH  trehalase    trehalase (brush-border membrane glycoprotein)  Symbol and/or name change 5135510 APPROVED
2011-09-01 TREH  trehalase (brush-border membrane glycoprotein)  TREH  trehalase (brush-border membrane glycoprotein)  Symbol and/or name change 5135510 APPROVED