TLCD4 (TLC domain containing 4) - Rat Genome Database

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Gene: TLCD4 (TLC domain containing 4) Homo sapiens
Analyze
Symbol: TLCD4
Name: TLC domain containing 4
RGD ID: 1602981
HGNC Page HGNC
Description: Predicted to be involved in lipid homeostasis. Predicted to localize to endoplasmic reticulum; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ31842; MGC102912; TLC domain-containing protein 4; TMEM56; transmembrane protein 56
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
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 Ensembl195,117,355 - 95,197,607 (+)EnsemblGRCh38hg38GRCh38
GRCh38195,092,517 - 95,197,607 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37195,558,073 - 95,663,163 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36195,355,572 - 95,431,462 (+)NCBINCBI36hg18NCBI36
Celera193,837,320 - 93,917,579 (+)NCBI
Cytogenetic Map1p21.3NCBI
HuRef193,704,498 - 93,785,093 (+)NCBIHuRef
CHM1_1195,672,916 - 95,777,954 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:19322201   PMID:20379614   PMID:21873635   PMID:23362303   PMID:26186194   PMID:28514442   PMID:30021884   PMID:32296183  


Genomics

Comparative Map Data
TLCD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl195,117,355 - 95,197,607 (+)EnsemblGRCh38hg38GRCh38
GRCh38195,092,517 - 95,197,607 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37195,558,073 - 95,663,163 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36195,355,572 - 95,431,462 (+)NCBINCBI36hg18NCBI36
Celera193,837,320 - 93,917,579 (+)NCBI
Cytogenetic Map1p21.3NCBI
HuRef193,704,498 - 93,785,093 (+)NCBIHuRef
CHM1_1195,672,916 - 95,777,954 (+)NCBICHM1_1
Tlcd4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393120,995,657 - 121,076,756 (-)NCBIGRCm39mm39
GRCm39 Ensembl3120,995,410 - 121,076,747 (-)Ensembl
GRCm383121,202,008 - 121,283,108 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3121,201,761 - 121,283,098 (-)EnsemblGRCm38mm10GRCm38
MGSCv373120,904,926 - 120,966,234 (-)NCBIGRCm37mm9NCBIm37
MGSCv363121,194,031 - 121,255,339 (-)NCBImm8
Celera3127,550,521 - 127,611,522 (-)NCBICelera
Cytogenetic Map3G1NCBI
Tlcd4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22209,284,873 - 209,360,156 (-)NCBI
Rnor_6.0 Ensembl2224,772,893 - 224,802,997 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02224,768,034 - 224,843,198 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02242,810,863 - 242,886,041 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42217,795,619 - 217,825,516 (-)NCBIRGSC3.4rn4RGSC3.4
Celera2201,725,067 - 201,755,365 (-)NCBICelera
Cytogenetic Map2q41NCBI
Tlcd4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955435278,510 - 346,391 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955435278,795 - 351,707 (+)NCBIChiLan1.0ChiLan1.0
TLCD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1196,505,151 - 96,585,869 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl196,506,056 - 96,580,115 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0197,754,839 - 97,859,777 (+)NCBIMhudiblu_PPA_v0panPan3
LOC490151
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1654,131,376 - 54,234,519 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl654,136,690 - 54,234,683 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha656,830,091 - 56,936,347 (-)NCBI
ROS_Cfam_1.0654,503,453 - 54,608,225 (-)NCBI
UMICH_Zoey_3.1654,177,753 - 54,284,024 (-)NCBI
UNSW_CanFamBas_1.0654,164,650 - 54,268,556 (-)NCBI
UU_Cfam_GSD_1.0654,617,534 - 54,721,134 (-)NCBI
TLCD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4122,232,587 - 122,365,707 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14122,232,587 - 122,341,187 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24134,013,185 - 134,015,603 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TLCD4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12038,056,339 - 38,136,862 (-)NCBI
ChlSab1.1 Ensembl2038,062,061 - 38,136,791 (-)Ensembl

Position Markers
RH78182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,663,029 - 95,663,115UniSTSGRCh37
Build 36195,435,617 - 95,435,703RGDNCBI36
Celera193,917,445 - 93,917,531RGD
Cytogenetic Map1p21.3UniSTS
HuRef193,784,959 - 93,785,045UniSTS
GeneMap99-GB4 RH Map1270.31UniSTS
NCBI RH Map1652.0UniSTS
SHGC-75181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,660,734 - 95,660,878UniSTSGRCh37
Build 36195,433,322 - 95,433,466RGDNCBI36
Celera193,915,150 - 93,915,294RGD
Cytogenetic Map1p21.3UniSTS
HuRef193,782,664 - 93,782,808UniSTS
TNG Radiation Hybrid Map151969.0UniSTS
GeneMap99-GB4 RH Map1270.37UniSTS
NCBI RH Map1652.0UniSTS
RH101976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,660,283 - 95,660,455UniSTSGRCh37
Build 36195,432,871 - 95,433,043RGDNCBI36
Celera193,914,699 - 93,914,871RGD
Cytogenetic Map1p21.3UniSTS
HuRef193,782,213 - 93,782,385UniSTS
GeneMap99-GB4 RH Map1269.33UniSTS
RH103249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,593,649 - 95,593,823UniSTSGRCh37
Build 36195,366,237 - 95,366,411RGDNCBI36
Celera193,848,074 - 93,848,248RGD
Cytogenetic Map1p21.3UniSTS
HuRef193,715,249 - 93,715,423UniSTS
GeneMap99-GB4 RH Map1269.6UniSTS
RH121235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,590,674 - 95,591,017UniSTSGRCh37
Build 36195,363,262 - 95,363,605RGDNCBI36
Celera193,845,100 - 93,845,443RGD
Cytogenetic Map1p21.3UniSTS
HuRef193,712,278 - 93,712,621UniSTS
TNG Radiation Hybrid Map151932.0UniSTS
G63126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,619,180 - 95,619,475UniSTSGRCh37
Build 36195,391,768 - 95,392,063RGDNCBI36
Celera193,873,605 - 93,873,900RGD
Cytogenetic Map1p21.3UniSTS
HuRef193,740,803 - 93,741,098UniSTS
TNG Radiation Hybrid Map151961.0UniSTS
SHGC-53700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,660,600 - 95,660,845UniSTSGRCh37
Build 36195,433,188 - 95,433,433RGDNCBI36
Celera193,915,016 - 93,915,261RGD
Cytogenetic Map1p21.3UniSTS
HuRef193,782,530 - 93,782,775UniSTS
TNG Radiation Hybrid Map151998.0UniSTS
G65643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,662,040 - 95,662,272UniSTSGRCh37
Build 36195,434,628 - 95,434,860RGDNCBI36
Celera193,916,456 - 93,916,688RGD
Cytogenetic Map1p21.3UniSTS
HuRef193,783,970 - 93,784,202UniSTS
SHGC-30950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,663,018 - 95,663,117UniSTSGRCh37
Build 36195,435,606 - 95,435,705RGDNCBI36
Celera193,917,434 - 93,917,533RGD
Cytogenetic Map1p21.3UniSTS
HuRef193,784,948 - 93,785,047UniSTS
GeneMap99-G3 RH Map14626.0UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2139
Count of miRNA genes:1015
Interacting mature miRNAs:1214
Transcripts:ENST00000370203, ENST00000455656, ENST00000456991, ENST00000463375
Prediction methods: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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 207 622 538 426 61 422 235 187 590 82 159 165 8 9 168
Low 2218 2056 1182 194 998 42 3947 1980 3125 328 1272 1440 160 1 1192 2542 4 2
Below cutoff 10 309 5 4 685 1 174 26 17 9 27 6 5 3 78 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000370203   ⟹   ENSP00000359222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl195,117,355 - 95,197,607 (+)Ensembl
RefSeq Acc Id: ENST00000455656   ⟹   ENSP00000417043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl195,117,923 - 95,173,845 (+)Ensembl
RefSeq Acc Id: ENST00000456991   ⟹   ENSP00000395364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl195,117,439 - 95,173,878 (+)Ensembl
RefSeq Acc Id: ENST00000463375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl195,140,672 - 95,150,229 (+)Ensembl
RefSeq Acc Id: NM_001199679   ⟹   NP_001186608
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,092,517 - 95,197,607 (+)NCBI
GRCh37195,582,894 - 95,663,163 (+)ENTREZGENE
HuRef193,704,498 - 93,785,093 (+)ENTREZGENE
CHM1_1195,672,916 - 95,777,954 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152487   ⟹   NP_689700
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,117,355 - 95,197,607 (+)NCBI
GRCh37195,582,894 - 95,663,163 (+)RGD
Build 36195,355,572 - 95,431,462 (+)NCBI Archive
Celera193,837,320 - 93,917,579 (+)RGD
HuRef193,704,498 - 93,785,093 (+)ENTREZGENE
CHM1_1195,697,752 - 95,777,954 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689700   ⟸   NM_152487
- UniProtKB: Q96MV1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186608   ⟸   NM_001199679
- UniProtKB: Q96MV1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359222   ⟸   ENST00000370203
RefSeq Acc Id: ENSP00000417043   ⟸   ENST00000455656
RefSeq Acc Id: ENSP00000395364   ⟸   ENST00000456991
Protein Domains
TLC

Promoters
RGD ID:6856294
Promoter ID:EPDNEW_H1312
Type:initiation region
Name:TMEM56_3
Description:transmembrane protein 56
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1309  EPDNEW_H1313  EPDNEW_H1314  EPDNEW_H1315  EPDNEW_H1316  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,116,897 - 95,116,957EPDNEW
RGD ID:6856296
Promoter ID:EPDNEW_H1313
Type:initiation region
Name:TMEM56_1
Description:transmembrane protein 56
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1309  EPDNEW_H1312  EPDNEW_H1314  EPDNEW_H1315  EPDNEW_H1316  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,117,266 - 95,117,326EPDNEW
RGD ID:6856298
Promoter ID:EPDNEW_H1314
Type:initiation region
Name:TMEM56_2
Description:transmembrane protein 56
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1309  EPDNEW_H1312  EPDNEW_H1313  EPDNEW_H1315  EPDNEW_H1316  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,117,384 - 95,117,444EPDNEW
RGD ID:6856300
Promoter ID:EPDNEW_H1315
Type:initiation region
Name:TMEM56_4
Description:transmembrane protein 56
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1309  EPDNEW_H1312  EPDNEW_H1313  EPDNEW_H1314  EPDNEW_H1316  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,148,730 - 95,148,790EPDNEW
RGD ID:6856302
Promoter ID:EPDNEW_H1316
Type:initiation region
Name:TMEM56_5
Description:transmembrane protein 56
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1309  EPDNEW_H1312  EPDNEW_H1313  EPDNEW_H1314  EPDNEW_H1315  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,195,303 - 95,195,363EPDNEW
RGD ID:6787019
Promoter ID:HG_KWN:3744
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000029935,   OTTHUMT00000029936,   OTTHUMT00000029937,   UC001DRC.1,   UC001DRD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36195,355,304 - 95,355,804 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3
pathogenic
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 copy number gain See cases [RCV000135654] Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
GRCh37/hg19 1p21.3(chr1:95554116-96359492)x3 copy number gain not provided [RCV000684603] Chr1:95554116..96359492 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p21.3(chr1:95656619-95782533)x3 copy number gain not provided [RCV000736575] Chr1:95656619..95782533 [GRCh37]
Chr1:1p21.3
benign
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3
pathogenic
GRCh37/hg19 1p21.3(chr1:95638426-95750723)x1 copy number loss not provided [RCV001005121] Chr1:95638426..95750723 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p22.1-21.3(chr1:93863518-96108930)x1 copy number loss not provided [RCV001005120] Chr1:93863518..96108930 [GRCh37]
Chr1:1p22.1-21.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26477 AgrOrtholog
COSMIC TLCD4 COSMIC
Ensembl Genes ENSG00000152078 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359222 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395364 UniProtKB/TrEMBL
  ENSP00000417043 UniProtKB/TrEMBL
Ensembl Transcript ENST00000370203 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000455656 UniProtKB/TrEMBL
  ENST00000456991 UniProtKB/TrEMBL
GTEx ENSG00000152078 GTEx
HGNC ID HGNC:26477 ENTREZGENE
Human Proteome Map TLCD4 Human Proteome Map
InterPro TLC-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:148534 UniProtKB/Swiss-Prot
NCBI Gene 148534 ENTREZGENE
Pfam TRAM_LAG1_CLN8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670772 PharmGKB
PROSITE TLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TLC UniProtKB/Swiss-Prot
UniProt C9J6J2_HUMAN UniProtKB/TrEMBL
  C9JJM2_HUMAN UniProtKB/TrEMBL
  Q96MV1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RPI2 UniProtKB/Swiss-Prot
  D3DT48 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-05-07 TLCD4  TLC domain containing 4  TMEM56  transmembrane protein 56  Symbol and/or name change 5135510 APPROVED