TLDC2 (TBC/LysM-associated domain containing 2) - Rat Genome Database

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Gene: TLDC2 (TBC/LysM-associated domain containing 2) Homo sapiens
Analyze
Symbol: TLDC2
Name: TBC/LysM-associated domain containing 2
RGD ID: 1348581
HGNC Page HGNC:16112
Description: Predicted to be involved in response to oxidative stress. Predicted to act upstream of or within negative regulation of cellular response to oxidative stress. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C20orf118; dJ132F21.2; hypothetical protein LOC140711; TBC/LysM-associated domain-containing protein 2; TLD domain containing 2; TLD domain-containing protein 2; uncharacterized protein C20orf118
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh382036,876,121 - 36,894,235 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,876,121 - 36,894,235 (+)EnsemblGRCh38hg38GRCh38
GRCh372035,504,524 - 35,522,638 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362034,937,984 - 34,956,046 (+)NCBINCBI36Build 36hg18NCBI36
Celera2032,212,079 - 32,230,180 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2032,240,663 - 32,258,356 (+)NCBIHuRef
CHM1_12035,406,122 - 35,424,192 (+)NCBICHM1_1
T2T-CHM13v2.02038,597,382 - 38,618,601 (+)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component
nucleus  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:21873635   PMID:28514442   PMID:29117863   PMID:33961781  


Genomics

Comparative Map Data
TLDC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382036,876,121 - 36,894,235 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,876,121 - 36,894,235 (+)EnsemblGRCh38hg38GRCh38
GRCh372035,504,524 - 35,522,638 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362034,937,984 - 34,956,046 (+)NCBINCBI36Build 36hg18NCBI36
Celera2032,212,079 - 32,230,180 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2032,240,663 - 32,258,356 (+)NCBIHuRef
CHM1_12035,406,122 - 35,424,192 (+)NCBICHM1_1
T2T-CHM13v2.02038,597,382 - 38,618,601 (+)NCBIT2T-CHM13v2.0
Tldc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392156,918,542 - 156,938,868 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2156,928,975 - 156,938,402 (+)EnsemblGRCm39 Ensembl
GRCm382157,076,627 - 157,096,948 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2157,087,055 - 157,096,482 (+)EnsemblGRCm38mm10GRCm38
MGSCv372156,912,791 - 156,922,217 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362156,779,835 - 156,787,922 (+)NCBIMGSCv36mm8
Celera2163,020,296 - 163,029,764 (+)NCBICelera
Cytogenetic Map2H1NCBI
cM Map277.99NCBI
Tldc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83166,162,315 - 166,178,881 (+)NCBIGRCr8
mRatBN7.23145,742,381 - 145,758,847 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3145,743,619 - 145,758,741 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.03153,195,295 - 153,208,118 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3153,197,644 - 153,207,816 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03158,506,894 - 158,519,839 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43147,675,172 - 147,687,339 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3144,452,720 - 144,465,559 (+)NCBICelera
Cytogenetic Map3q42NCBI
Tldc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542224,781,806 - 24,793,625 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542224,781,476 - 24,795,112 (-)NCBIChiLan1.0ChiLan1.0
TLDC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22142,612,137 - 42,626,703 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12042,605,235 - 42,618,976 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02033,204,182 - 33,221,160 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12034,321,315 - 34,342,670 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2034,321,315 - 34,342,664 (+)Ensemblpanpan1.1panPan2
TLDC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12425,602,002 - 25,623,273 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2425,610,851 - 25,623,803 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2425,245,688 - 25,268,284 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02426,297,990 - 26,320,648 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2426,308,277 - 26,321,178 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12425,575,548 - 25,598,308 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02425,676,015 - 25,698,821 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02426,165,476 - 26,188,297 (+)NCBIUU_Cfam_GSD_1.0
Tldc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640174,509,374 - 174,519,623 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365614,230,257 - 4,241,425 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365614,229,945 - 4,241,425 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TLDC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1740,109,210 - 40,120,399 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11740,105,500 - 40,118,743 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21745,548,275 - 45,557,678 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TLDC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1257,629,205 - 57,640,736 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl257,627,764 - 57,640,177 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666054417,260 - 431,726 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tldc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248422,626,897 - 2,668,822 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248422,649,943 - 2,668,957 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TLDC2
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11
pathogenic
NM_080628.2(TLDC2):c.70G>A (p.Gly24Ser) single nucleotide variant Malignant melanoma [RCV000072614] Chr20:36877935 [GRCh38]
Chr20:35506338 [GRCh37]
Chr20:34939752 [NCBI36]
Chr20:20q11.23
not provided
NM_080628.2(TLDC2):c.204C>T (p.Phe68=) single nucleotide variant Malignant melanoma [RCV000072615] Chr20:36879055 [GRCh38]
Chr20:35507458 [GRCh37]
Chr20:34940872 [NCBI36]
Chr20:20q11.23
not provided
NM_015474.3(SAMHD1):c.1541C>T (p.Pro514Leu) single nucleotide variant Malignant melanoma [RCV000072617] Chr20:36898507 [GRCh38]
Chr20:35526910 [GRCh37]
Chr20:34960324 [NCBI36]
Chr20:20q11.23
not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12
pathogenic
NM_080628.3(TLDC2):c.*18-170C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000383368]|Chilblain lupus 2 [RCV000293495] Chr20:36892692 [GRCh38]
Chr20:35521095 [GRCh37]
Chr20:20q11.23
benign|uncertain significance
NM_080628.3(TLDC2):c.*18-938G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000392184]|Chilblain lupus 2 [RCV000296577] Chr20:36891924 [GRCh38]
Chr20:35520327 [GRCh37]
Chr20:20q11.23
benign|likely benign
NM_080628.3(TLDC2):c.*18-218T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000328748]|Chilblain lupus 2 [RCV000268954] Chr20:36892644 [GRCh38]
Chr20:35521047 [GRCh37]
Chr20:20q11.23
benign|likely benign
NM_080628.3(TLDC2):c.*28T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000282011]|Chilblain lupus 2 [RCV000400320]|not provided [RCV003221936] Chr20:36892872 [GRCh38]
Chr20:35521275 [GRCh37]
Chr20:20q11.23
benign|likely benign
NM_080628.3(TLDC2):c.*18-25A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000388878]|Chilblain lupus 2 [RCV000329727] Chr20:36892837 [GRCh38]
Chr20:35521240 [GRCh37]
Chr20:20q11.23
benign|likely benign|uncertain significance
NM_080628.3(TLDC2):c.*18-1G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000335485]|Chilblain lupus 2 [RCV000294485]|not specified [RCV001731616] Chr20:36892861 [GRCh38]
Chr20:35521264 [GRCh37]
Chr20:20q11.23
benign|likely benign
NM_080628.3(TLDC2):c.*43G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000393843]|Chilblain lupus 2 [RCV000337161] Chr20:36892887 [GRCh38]
Chr20:35521290 [GRCh37]
Chr20:20q11.23
benign|likely benign
NM_080628.3(TLDC2):c.*18-559G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000297560]|Chilblain lupus 2 [RCV000357040] Chr20:36892303 [GRCh38]
Chr20:35520706 [GRCh37]
Chr20:20q11.23
benign
NM_080628.3(TLDC2):c.*18-433T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000268226]|Chilblain lupus 2 [RCV000358313] Chr20:36892429 [GRCh38]
Chr20:35520832 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln) single nucleotide variant Aicardi Goutieres syndrome [RCV001833405]|Aicardi-Goutieres syndrome 5 [RCV001247517]|Inborn genetic diseases [RCV002518123]|not provided [RCV000301389] Chr20:36892981 [GRCh38]
Chr20:35521384 [GRCh37]
Chr20:20q11.23
likely benign|uncertain significance
NM_080628.3(TLDC2):c.*18-466G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000405283]|Chilblain lupus 2 [RCV000303345] Chr20:36892396 [GRCh38]
Chr20:35520799 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*18-641T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000392173]|Chilblain lupus 2 [RCV000351506] Chr20:36892221 [GRCh38]
Chr20:35520624 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*18-292C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000323445]|Chilblain lupus 2 [RCV000364067] Chr20:36892570 [GRCh38]
Chr20:35520973 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*18-50G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001138653]|Chilblain lupus 2 [RCV001138652] Chr20:36892812 [GRCh38]
Chr20:35521215 [GRCh37]
Chr20:20q11.23
benign|likely benign
GRCh37/hg19 20q11.23(chr20:35412135-35521238)x3 copy number gain See cases [RCV000447313] Chr20:35412135..35521238 [GRCh37]
Chr20:20q11.23
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000646784] Chr20:36893016 [GRCh38]
Chr20:35521419 [GRCh37]
Chr20:20q11.23
benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13
likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20q11.23(chr20:35507542-35525640)x1 copy number loss not provided [RCV000741187] Chr20:35507542..35525640 [GRCh37]
Chr20:20q11.23
benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001037649]|Aicardi-Goutieres syndrome 5 [RCV002265930] Chr20:36893015 [GRCh38]
Chr20:35521418 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001470706] Chr20:36892980 [GRCh38]
Chr20:35521383 [GRCh37]
Chr20:20q11.23
likely benign
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn) single nucleotide variant Aicardi Goutieres syndrome [RCV001275557]|Aicardi-Goutieres syndrome 5 [RCV000817996] Chr20:36893060 [GRCh38]
Chr20:35521463 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1868A>G (p.Asp623Gly) single nucleotide variant not provided [RCV000788755] Chr20:36892945 [GRCh38]
Chr20:35521348 [GRCh37]
Chr20:20q11.23
uncertain significance
NC_000020.11:g.(?_36892912)_(36898564_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV001032562] Chr20:35521315..35526967 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*18-435A>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001142971]|Chilblain lupus 2 [RCV001142970] Chr20:36892427 [GRCh38]
Chr20:35520830 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*18-801C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001141118]|Chilblain lupus 2 [RCV001141119] Chr20:36892061 [GRCh38]
Chr20:35520464 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*233GA[3] microsatellite Aicardi-Goutieres syndrome 5 [RCV000911040] Chr20:36893076..36893077 [GRCh38]
Chr20:35521479..35521480 [GRCh37]
Chr20:20q11.23
likely benign
NM_080628.3(TLDC2):c.304G>A (p.Gly102Arg) single nucleotide variant not provided [RCV000963728] Chr20:36879155 [GRCh38]
Chr20:35507558 [GRCh37]
Chr20:20q11.23
benign
NM_080628.3(TLDC2):c.*18-812A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001141116]|Chilblain lupus 2 [RCV001141117] Chr20:36892050 [GRCh38]
Chr20:35520453 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*18-578G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001142968]|Chilblain lupus 2 [RCV001142969] Chr20:36892284 [GRCh38]
Chr20:35520687 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*18-34C>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001138654]|Chilblain lupus 2 [RCV001138655] Chr20:36892828 [GRCh38]
Chr20:35521231 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*18-647C>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001141121]|Chilblain lupus 2 [RCV001141120] Chr20:36892215 [GRCh38]
Chr20:35520618 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001412760] Chr20:36892953 [GRCh38]
Chr20:35521356 [GRCh37]
Chr20:20q11.23
likely benign
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001368156] Chr20:36892951 [GRCh38]
Chr20:35521354 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1812C>A (p.Val604=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001473791] Chr20:36893001 [GRCh38]
Chr20:35521404 [GRCh37]
Chr20:20q11.23
likely benign
NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001432891] Chr20:36893061 [GRCh38]
Chr20:35521464 [GRCh37]
Chr20:20q11.23
likely benign
NM_080628.3(TLDC2):c.*412C>T single nucleotide variant not provided [RCV001691295] Chr20:36893256 [GRCh38]
Chr20:35521659 [GRCh37]
Chr20:20q11.23
benign
NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001442157] Chr20:36892965 [GRCh38]
Chr20:35521368 [GRCh37]
Chr20:20q11.23
likely benign
GRCh37/hg19 20q11.23(chr20:35335325-35606892)x3 copy number gain not provided [RCV001834420] Chr20:35335325..35606892 [GRCh37]
Chr20:20q11.23
uncertain significance
NC_000020.10:g.(?_35521335)_(35580046_?)del deletion Aicardi-Goutieres syndrome 5 [RCV001946896] Chr20:35521335..35580046 [GRCh37]
Chr20:20q11.23
pathogenic
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001912871] Chr20:36893033 [GRCh38]
Chr20:35521436 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001975472] Chr20:36893056 [GRCh38]
Chr20:35521459 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001978174] Chr20:36893028 [GRCh38]
Chr20:35521431 [GRCh37]
Chr20:20q11.23
uncertain significance
NC_000020.10:g.(?_35521325)_(35580056_?)del deletion Aicardi-Goutieres syndrome 5 [RCV001959068] Chr20:35521325..35580056 [GRCh37]
Chr20:20q11.23
pathogenic
NC_000020.10:g.(?_35521335)_(35563612_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV001997072] Chr20:35521335..35563612 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*238A>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002168104] Chr20:36893082 [GRCh38]
Chr20:35521485 [GRCh37]
Chr20:20q11.23
likely benign
NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002144955] Chr20:36893046 [GRCh38]
Chr20:35521449 [GRCh37]
Chr20:20q11.23
likely benign
NM_080628.3(TLDC2):c.*231_*234del deletion Aicardi-Goutieres syndrome 5 [RCV002079081] Chr20:36893075..36893078 [GRCh38]
Chr20:35521478..35521481 [GRCh37]
Chr20:20q11.23
likely benign
NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002217690] Chr20:36893064 [GRCh38]
Chr20:35521467 [GRCh37]
Chr20:20q11.23
likely benign
NM_080628.3(TLDC2):c.*239dup duplication Aicardi-Goutieres syndrome 5 [RCV002177640] Chr20:36893082..36893083 [GRCh38]
Chr20:35521485..35521486 [GRCh37]
Chr20:20q11.23
likely benign
NC_000020.10:g.(?_35521335)_(35540975_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV003119606] Chr20:35521335..35540975 [GRCh37]
Chr20:20q11.23
uncertain significance
NC_000020.10:g.(?_35521335)_(35526967_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV003119607] Chr20:35521335..35526967 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.287G>A (p.Arg96Gln) single nucleotide variant Inborn genetic diseases [RCV002946922] Chr20:36879138 [GRCh38]
Chr20:35507541 [GRCh37]
Chr20:20q11.23
likely benign
NM_080628.3(TLDC2):c.337G>A (p.Gly113Arg) single nucleotide variant Inborn genetic diseases [RCV002689972] Chr20:36879188 [GRCh38]
Chr20:35507591 [GRCh37]
Chr20:20q11.23
uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23
likely pathogenic
NM_080628.3(TLDC2):c.143A>G (p.Gln48Arg) single nucleotide variant Inborn genetic diseases [RCV002945240] Chr20:36878008 [GRCh38]
Chr20:35506411 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003074423] Chr20:36892988 [GRCh38]
Chr20:35521391 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1758T>C (p.Val586=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002863675] Chr20:36893055 [GRCh38]
Chr20:35521458 [GRCh37]
Chr20:20q11.23
likely benign
NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002696137] Chr20:36892986 [GRCh38]
Chr20:35521389 [GRCh37]
Chr20:20q11.23
likely benign
NM_080628.3(TLDC2):c.266G>A (p.Ser89Asn) single nucleotide variant Inborn genetic diseases [RCV002759342] Chr20:36879117 [GRCh38]
Chr20:35507520 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002909659] Chr20:36893031 [GRCh38]
Chr20:35521434 [GRCh37]
Chr20:20q11.23
likely benign
NM_080628.3(TLDC2):c.68A>T (p.Glu23Val) single nucleotide variant Inborn genetic diseases [RCV002869439] Chr20:36877933 [GRCh38]
Chr20:35506336 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.148A>G (p.Thr50Ala) single nucleotide variant Inborn genetic diseases [RCV002977306] Chr20:36878013 [GRCh38]
Chr20:35506416 [GRCh37]
Chr20:20q11.23
likely benign
NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002918602] Chr20:36892982 [GRCh38]
Chr20:35521385 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.182T>C (p.Ile61Thr) single nucleotide variant Inborn genetic diseases [RCV002788067] Chr20:36878047 [GRCh38]
Chr20:35506450 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002766909] Chr20:36892936 [GRCh38]
Chr20:35521339 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002832932] Chr20:36893011 [GRCh38]
Chr20:35521414 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002834936] Chr20:36892941 [GRCh38]
Chr20:35521344 [GRCh37]
Chr20:20q11.23
likely benign
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003092707] Chr20:36892937 [GRCh38]
Chr20:35521340 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003093733] Chr20:36892972 [GRCh38]
Chr20:35521375 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.272A>T (p.Gln91Leu) single nucleotide variant Inborn genetic diseases [RCV003308727] Chr20:36879123 [GRCh38]
Chr20:35507526 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_080628.3(TLDC2):c.*244del deletion Aicardi-Goutieres syndrome 5 [RCV003502851] Chr20:36893084 [GRCh38]
Chr20:35521487 [GRCh37]
Chr20:20q11.23
benign
NM_080628.3(TLDC2):c.561C>A (p.Ser187Arg) single nucleotide variant not provided [RCV003440389] Chr20:36889299 [GRCh38]
Chr20:35517702 [GRCh37]
Chr20:20q11.23
likely benign
NM_015474.4(SAMHD1):c.1809A>G (p.Ser603=) single nucleotide variant not provided [RCV003440390] Chr20:36893004 [GRCh38]
Chr20:35521407 [GRCh37]
Chr20:20q11.23
likely benign
NM_080628.3(TLDC2):c.294G>C (p.Glu98Asp) single nucleotide variant not provided [RCV003431312] Chr20:36879145 [GRCh38]
Chr20:35507548 [GRCh37]
Chr20:20q11.23
likely benign
NM_080628.3(TLDC2):c.*230G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610220] Chr20:36893074 [GRCh38]
Chr20:35521477 [GRCh37]
Chr20:20q11.23
likely benign
NM_080628.3(TLDC2):c.*237G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610239] Chr20:36893081 [GRCh38]
Chr20:35521484 [GRCh37]
Chr20:20q11.23
likely benign
NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610358] Chr20:36893037 [GRCh38]
Chr20:35521440 [GRCh37]
Chr20:20q11.23
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1398
Count of miRNA genes:592
Interacting mature miRNAs:655
Transcripts:ENST00000217320, ENST00000436941, ENST00000602922
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.

Markers in Region
WI-16154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,518,642 - 35,518,770UniSTSGRCh37
Build 362034,952,056 - 34,952,184RGDNCBI36
Celera2032,226,154 - 32,226,282RGD
Cytogenetic Map20q11.23UniSTS
HuRef2032,254,346 - 32,254,474UniSTS
GeneMap99-GB4 RH Map20206.85UniSTS
Whitehead-RH Map20233.0UniSTS
NCBI RH Map20306.8UniSTS
WI-11878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,521,125 - 35,521,253UniSTSGRCh37
Build 362034,954,539 - 34,954,667RGDNCBI36
Celera2032,228,673 - 32,228,801RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20pter-q12UniSTS
HuRef2032,256,849 - 32,256,977UniSTS
GeneMap99-GB4 RH Map20207.11UniSTS
Whitehead-RH Map20232.9UniSTS
NCBI RH Map20307.3UniSTS
A005D07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,521,144 - 35,521,330UniSTSGRCh37
Build 362034,954,558 - 34,954,744RGDNCBI36
Celera2032,228,692 - 32,228,878RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20pter-q12UniSTS
HuRef2032,256,868 - 32,257,054UniSTS
GeneMap99-GB4 RH Map20207.11UniSTS
Whitehead-RH Map20224.3UniSTS
NCBI RH Map20306.8UniSTS
RH45857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,520,300 - 35,520,404UniSTSGRCh37
Build 362034,953,714 - 34,953,818RGDNCBI36
Celera2032,227,848 - 32,227,952RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20pter-q12UniSTS
HuRef2032,256,024 - 32,256,128UniSTS
GeneMap99-GB4 RH Map20208.37UniSTS
SAMHD1_9434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,520,643 - 35,521,175UniSTSGRCh37
Build 362034,954,057 - 34,954,589RGDNCBI36
Celera2032,228,191 - 32,228,723RGD
HuRef2032,256,367 - 32,256,899UniSTS
RH48138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,522,368 - 35,522,506UniSTSGRCh37
Build 362034,955,782 - 34,955,920RGDNCBI36
Celera2032,229,916 - 32,230,054RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20pter-q12UniSTS
HuRef2032,258,092 - 32,258,230UniSTS
GeneMap99-GB4 RH Map20207.61UniSTS
NCBI RH Map20306.8UniSTS


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
High
Medium 770 219 52 18 177 18 1033 262 612 10 113 333 1 308 779
Low 1647 2555 1554 506 1398 347 2951 1449 1825 326 1275 1157 171 1 896 1711 1
Below cutoff 16 206 100 85 286 87 349 458 1248 73 61 96 1 298 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001304783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI537606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG163960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY994247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000217320   ⟹   ENSP00000217320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,876,138 - 36,894,235 (+)Ensembl
RefSeq Acc Id: ENST00000436941   ⟹   ENSP00000394804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,887,455 - 36,894,235 (+)Ensembl
RefSeq Acc Id: ENST00000602922   ⟹   ENSP00000473323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,876,121 - 36,889,863 (+)Ensembl
RefSeq Acc Id: NM_001304783   ⟹   NP_001291712
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,876,121 - 36,894,235 (+)NCBI
CHM1_12035,406,076 - 35,424,198 (+)NCBI
T2T-CHM13v2.02038,600,417 - 38,618,601 (+)NCBI
Sequence:
RefSeq Acc Id: NM_080628   ⟹   NP_542195
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,876,138 - 36,894,235 (+)NCBI
GRCh372035,504,570 - 35,522,632 (+)RGD
Build 362034,937,984 - 34,956,046 (+)NCBI Archive
Celera2032,212,079 - 32,230,180 (+)RGD
HuRef2032,240,663 - 32,258,356 (+)RGD
CHM1_12035,406,076 - 35,424,198 (+)NCBI
T2T-CHM13v2.02038,600,434 - 38,618,601 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027674   ⟹   XP_016883163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,877,967 - 36,889,403 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054323011   ⟹   XP_054178986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02038,597,382 - 38,613,751 (+)NCBI
RefSeq Acc Id: XM_054323012   ⟹   XP_054178987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02038,602,265 - 38,613,751 (+)NCBI
RefSeq Acc Id: NP_542195   ⟸   NM_080628
- Peptide Label: isoform 1
- UniProtKB: B3KVU8 (UniProtKB/Swiss-Prot),   A0PJX2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291712   ⟸   NM_001304783
- Peptide Label: isoform 2
- UniProtKB: A0PJX2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883163   ⟸   XM_017027674
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000217320   ⟸   ENST00000217320
RefSeq Acc Id: ENSP00000473323   ⟸   ENST00000602922
RefSeq Acc Id: ENSP00000394804   ⟸   ENST00000436941
RefSeq Acc Id: XP_054178986   ⟸   XM_054323011
- Peptide Label: isoform X2
- UniProtKB: A0PJX2 (UniProtKB/Swiss-Prot),   B3KVU8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054178987   ⟸   XM_054323012
- Peptide Label: isoform X1
Protein Domains
TLDc

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0PJX2-F1-model_v2 AlphaFold A0PJX2 1-215 view protein structure

Promoters
RGD ID:6798552
Promoter ID:HG_KWN:39319
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000079058
Position:
Human AssemblyChrPosition (strand)Source
Build 362034,948,984 - 34,949,484 (+)MPROMDB
RGD ID:13206861
Promoter ID:EPDNEW_H27011
Type:multiple initiation site
Name:TLDC2_2
Description:TBC/LysM-associated domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27012  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,873,104 - 36,873,164EPDNEW
RGD ID:13206863
Promoter ID:EPDNEW_H27012
Type:initiation region
Name:TLDC2_1
Description:TBC/LysM-associated domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27011  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,876,138 - 36,876,198EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16112 AgrOrtholog
COSMIC TLDC2 COSMIC
Ensembl Genes ENSG00000101342 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000217320 ENTREZGENE
  ENST00000217320.8 UniProtKB/Swiss-Prot
  ENST00000436941.1 UniProtKB/TrEMBL
  ENST00000602922.5 UniProtKB/Swiss-Prot
GTEx ENSG00000101342 GTEx
HGNC ID HGNC:16112 ENTREZGENE
Human Proteome Map TLDC2 Human Proteome Map
InterPro TLDc_dom UniProtKB/Swiss-Prot
KEGG Report hsa:140711 UniProtKB/Swiss-Prot
NCBI Gene 140711 ENTREZGENE
PANTHER NUCLEOLAR PROTEIN 7/ESTROGEN RECEPTOR COACTIVATOR-RELATED UniProtKB/Swiss-Prot
  TLD DOMAIN-CONTAINING PROTEIN 2 UniProtKB/Swiss-Prot
Pfam TLD UniProtKB/Swiss-Prot
PharmGKB PA25658 PharmGKB
PROSITE TLDC UniProtKB/Swiss-Prot
SMART TLDc UniProtKB/Swiss-Prot
UniProt A0PJX2 ENTREZGENE
  A2A2J3_HUMAN UniProtKB/TrEMBL
  B3KVU8 ENTREZGENE
  TLDC2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KVU8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-19 TLDC2  TBC/LysM-associated domain containing 2  C20orf118  chromosome 20 open reading frame 118  Symbol and/or name change 5135510 APPROVED