MTLN (mitoregulin) - Rat Genome Database
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Gene: MTLN (mitoregulin) Homo sapiens
Analyze
Symbol: MTLN
Name: mitoregulin
RGD ID: 2303856
HGNC Page HGNC
Description: Involved in positive regulation of mitochondrial membrane potential and positive regulation of sequestering of calcium ion. Predicted to localize to integral component of mitochondrial inner membrane; INTERACTS WITH doxorubicin; fipronil; N,N-diethyl-m-toluamide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: LEMP; LINC00116; lncRNA encoded micropeptide; long intergenic non-protein coding RNA 116; micropeptide in mitochondria; micropeptide regulator of beta-oxidation; MOXI; MPM; NCRNA00116; small integral membrane protein 37; SMIM37; uncharacterized protein encoded by LINC00116
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2110,211,529 - 110,245,420 (-)EnsemblGRCh38hg38GRCh38
GRCh382110,211,529 - 110,212,547 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372110,969,106 - 110,980,517 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,327,155 - 110,329,743 (-)NCBINCBI36hg18NCBI36
Celera2104,826,911 - 104,838,322 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2104,109,441 - 104,120,850 (-)NCBIHuRef
CHM1_12110,973,360 - 110,984,769 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

Additional References at PubMed
PMID:12477932   PMID:21873635   PMID:24059539   PMID:29949755   PMID:29949756   PMID:30796188  


Genomics

Comparative Map Data
MTLN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2110,211,529 - 110,245,420 (-)EnsemblGRCh38hg38GRCh38
GRCh382110,211,529 - 110,212,547 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372110,969,106 - 110,980,517 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,327,155 - 110,329,743 (-)NCBINCBI36hg18NCBI36
Celera2104,826,911 - 104,838,322 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2104,109,441 - 104,120,850 (-)NCBIHuRef
CHM1_12110,973,360 - 110,984,769 (-)NCBICHM1_1
Mtln
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392127,633,302 - 127,634,408 (-)NCBIGRCm39mm39
GRCm382127,791,382 - 127,792,488 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2127,791,388 - 127,792,488 (-)EnsemblGRCm38mm10GRCm38
MGSCv372127,617,113 - 127,618,224 (-)NCBIGRCm37mm9NCBIm37
MGSCv362127,482,829 - 127,483,929 (-)NCBImm8
Celera2129,024,511 - 129,025,623 (-)NCBICelera
Cytogenetic Map2F1NCBI
Mtln
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.03120,372,665 - 120,373,523 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Celera3113,853,266 - 113,854,124 (-)NCBICelera
Cytogenetic Map3q36NCBI
MTLN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A111,712,688 - 111,745,069 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A111,713,514 - 111,713,933 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A91,481,706 - 91,514,106 (+)NCBIMhudiblu_PPA_v0panPan3
MTLN
(Canis lupus familiaris - dog)
No map positions available.
MTLN
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11413,595,687 - 13,596,974 (-)NCBI

Position Markers
D8S530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37188,954,245 - 8,954,384UniSTSGRCh37
GRCh37872,576,711 - 72,576,921UniSTSGRCh37
GRCh37872,576,779 - 72,576,911UniSTSGRCh37
Build 36872,739,265 - 72,739,475RGDNCBI36
Celera868,575,696 - 68,575,910UniSTS
Celera188,838,347 - 8,838,486UniSTS
Celera2104,831,946 - 104,832,036RGD
Celera868,575,764 - 68,575,900UniSTS
Cytogenetic Map2q13UniSTS
HuRef868,070,503 - 68,070,717UniSTS
HuRef188,919,064 - 8,919,203UniSTS
HuRef868,070,571 - 68,070,707UniSTS
Marshfield Genetic Map890.33UniSTS
Marshfield Genetic Map890.33RGD
Genethon Genetic Map889.2UniSTS
TNG Radiation Hybrid Map836505.0UniSTS
deCODE Assembly Map883.68UniSTS
Stanford-G3 RH Map82861.0UniSTS
GeneMap99-GB4 RH Map8373.72UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map8842.5UniSTS
GeneMap99-G3 RH Map82951.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:133
Count of miRNA genes:67
Interacting mature miRNAs:67
Transcripts:ENST00000414416, ENST00000426713
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 1820 1977 1152 169 622 134 3096 2061 2208 262 930 1194 44 927 2125 1
Low 611 987 571 453 1296 330 1247 131 1498 156 504 411 125 277 663 3
Below cutoff 20 26 6 1 1 6 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000414416   ⟹   ENSP00000485216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,211,529 - 110,245,420 (-)Ensembl
RefSeq Acc Id: ENST00000426713   ⟹   ENSP00000485373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,211,530 - 110,212,823 (-)Ensembl
RefSeq Acc Id: ENST00000611969   ⟹   ENSP00000485064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,211,530 - 110,212,562 (-)Ensembl
RefSeq Acc Id: NM_001384134   ⟹   NP_001371063
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,211,529 - 110,212,547 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001371063 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAM28196 (Get FASTA)   NCBI Sequence Viewer  
  EAW50629 (Get FASTA)   NCBI Sequence Viewer  
  Q8NCU8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: ENSP00000485373   ⟸   ENST00000426713
RefSeq Acc Id: ENSP00000485216   ⟸   ENST00000414416
RefSeq Acc Id: ENSP00000485064   ⟸   ENST00000611969
RefSeq Acc Id: NP_001371063   ⟸   NM_001384134

Promoters
RGD ID:6797871
Promoter ID:HG_KWN:34415
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000338107
Position:
Human AssemblyChrPosition (strand)Source
Build 362110,327,131 - 110,327,631 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q13(chr2:110104900-110321480)x1 copy number loss See cases [RCV000133908] Chr2:110104900..110321480 [GRCh38]
Chr2:110862477..111079057 [GRCh37]
Chr2:110219766..110513555 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x3 copy number gain See cases [RCV000050514] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:110219766..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110076063-110257869)x3 copy number gain See cases [RCV000134234] Chr2:110076063..110257869 [GRCh38]
Chr2:110833640..111015446 [GRCh37]
Chr2:110190929..110348650 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:109959903-110360538)x3 copy number gain See cases [RCV000134235] Chr2:109959903..110360538 [GRCh38]
Chr2:110717480..111118115 [GRCh37]
Chr2:110074769..110552653 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104897-110321488)x1 copy number loss See cases [RCV000134789] Chr2:110104897..110321488 [GRCh38]
Chr2:110862474..111079065 [GRCh37]
Chr2:110219763..110513563 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025674-110321488)x3 copy number gain See cases [RCV000134815] Chr2:110025674..110321488 [GRCh38]
Chr2:110783251..111079065 [GRCh37]
Chr2:110140540..110513563 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x1 copy number loss See cases [RCV000135500] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:110219766..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025681-110576905)x1 copy number loss See cases [RCV000136417] Chr2:110025681..110576905 [GRCh38]
Chr2:110783258..111334482 [GRCh37]
Chr2:110140547..110811832 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110143816-110222824)x1 copy number loss See cases [RCV000135890] Chr2:110143816..110222824 [GRCh38]
Chr2:110901393..110980401 [GRCh37]
Chr2:110258682..110337690 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q13(chr2:109975055-110576905)x3 copy number gain See cases [RCV000137971] Chr2:109975055..110576905 [GRCh38]
Chr2:110732632..111334482 [GRCh37]
Chr2:110089921..110775582 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q13(chr2:110049995-110576905)x3 copy number gain See cases [RCV000138366] Chr2:110049995..110576905 [GRCh38]
Chr2:110807572..111334482 [GRCh37]
Chr2:110164861..110775582 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q13(chr2:110104897-110371270)x1 copy number loss See cases [RCV000138384] Chr2:110104897..110371270 [GRCh38]
Chr2:110862474..111128847 [GRCh37]
Chr2:110219763..110563384 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110257869)x1 copy number loss See cases [RCV000140147] Chr2:110104900..110257869 [GRCh38]
Chr2:110862477..111015446 [GRCh37]
Chr2:110219766..110348650 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q13(chr2:110066680-110225841)x0 copy number loss See cases [RCV000140789] Chr2:110066680..110225841 [GRCh38]
Chr2:110824257..110983418 [GRCh37]
Chr2:110181546..110340707 [NCBI36]
Chr2:2q13
pathogenic
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q13(chr2:110143902-110222910)x1 copy number loss See cases [RCV000141586] Chr2:110143902..110222910 [GRCh38]
Chr2:110901479..110980487 [GRCh37]
Chr2:110258768..110337776 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110371270)x3 copy number gain See cases [RCV000148275] Chr2:110104900..110371270 [GRCh38]
Chr2:110862477..111128847 [GRCh37]
Chr2:110219766..110563384 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025659-110371270)x0 copy number loss See cases [RCV000051262] Chr2:110025659..110371270 [GRCh38]
Chr2:110783236..111128847 [GRCh37]
Chr2:110140525..110563384 [NCBI36]
Chr2:2q13
pathogenic
GRCh38/hg38 2q13(chr2:110104900-110371270)x3 copy number gain See cases [RCV000050264] Chr2:110104900..110371270 [GRCh38]
Chr2:110862477..111128847 [GRCh37]
Chr2:110219766..110563384 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:109936618-110452159)x1 copy number loss See cases [RCV000053606] Chr2:109936618..110452159 [GRCh38]
Chr2:110694195..111209736 [GRCh37]
Chr2:110051484..110644273 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110084138-110212693)x1 copy number loss See cases [RCV000053607] Chr2:110084138..110212693 [GRCh38]
Chr2:110841715..110970270 [GRCh37]
Chr2:110199004..110327559 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110084138-110611314)x1 copy number loss See cases [RCV000053608] Chr2:110084138..110611314 [GRCh38]
Chr2:110841715..111368891 [GRCh37]
Chr2:110199004..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110084194-110212693)x1 copy number loss See cases [RCV000053609] Chr2:110084194..110212693 [GRCh38]
Chr2:110841771..110970270 [GRCh37]
Chr2:110199060..110327559 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13
uncertain significance
Single allele duplication Autism spectrum disorder [RCV000208724] Chr2:109696399..110327308 [GRCh38]
Chr2:110453976..111084885 [GRCh37]
Chr2:2q13
uncertain significance
Single allele deletion Nephronophthisis 1 [RCV000529276] Chr2:110095383..110217525 [GRCh38]
Chr2:110852960..110975102 [GRCh37]
Chr2:2q13
pathogenic
Single allele deletion Cone dystrophy [RCV000505010] Chr2:110095946..110226893 [GRCh38]
Chr2:110853523..110984470 [GRCh37]
Chr2:2q13
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27339 AgrOrtholog
COSMIC MTLN COSMIC
Ensembl Genes ENSG00000175701 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000485064 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000485216 UniProtKB/Swiss-Prot
  ENSP00000485373 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000414416 UniProtKB/Swiss-Prot
  ENST00000426713 UniProtKB/Swiss-Prot
  ENST00000611969 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000175701 GTEx
HGNC ID HGNC:27339 ENTREZGENE
Human Proteome Map MTLN Human Proteome Map
InterPro Mtln UniProtKB/Swiss-Prot
NCBI Gene 205251 ENTREZGENE
PANTHER PTHR37154 UniProtKB/Swiss-Prot
PharmGKB PA164723669 PharmGKB
UniGene Hs.128499 ENTREZGENE
UniProt MTLN_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-06-19 MTLN  mitoregulin  SMIM37  small integral membrane protein 37  Symbol and/or name change 5135510 APPROVED
2017-10-31 SMIM37  small integral membrane protein 37  LINC00116  long intergenic non-protein coding RNA 116  Symbol and/or name change 5135510 APPROVED
2011-09-01 LINC00116  long intergenic non-protein coding RNA 116  NCRNA00116  non-protein coding RNA 116  Symbol and/or name change 5135510 APPROVED