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Gene: TLDC2 (TBC/LysM-associated domain containing 2) Homo sapiens

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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

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	36,876,121 - 36,894,235 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	36,876,121 - 36,894,235 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	35,504,524 - 35,522,638 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	34,937,984 - 34,956,046 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	20	32,212,079 - 32,230,180 (+)	NCBI		Celera
Cytogenetic Map	20	q11.23	NCBI
HuRef	20	32,240,663 - 32,258,356 (+)	NCBI		HuRef
CHM1_1	20	35,406,122 - 35,424,192 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	38,597,382 - 38,618,601 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Aicardi-Goutieres syndrome (IAGP)

Aicardi-Goutieres Syndrome 5 (IAGP)

Chilblain Lupus 2 (IAGP)

focal epilepsy (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP)

decabromodiphenyl ether (ISO)

propanal (EXP)

thiram (EXP)

trichloroethene (ISO)

triphenyl phosphate (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of cellular response to oxidative stress (ISO)

response to oxidative stress (IBA)

Cellular Component

nucleus (IBA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Focal-onset seizure (IAGP)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	36,876,121 - 36,894,235 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	36,876,121 - 36,894,235 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	35,504,524 - 35,522,638 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	34,937,984 - 34,956,046 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	20	32,212,079 - 32,230,180 (+)	NCBI		Celera
Cytogenetic Map	20	q11.23	NCBI
HuRef	20	32,240,663 - 32,258,356 (+)	NCBI		HuRef
CHM1_1	20	35,406,122 - 35,424,192 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	38,597,382 - 38,618,601 (+)	NCBI		T2T-CHM13v2.0

Tldc2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	156,918,542 - 156,938,868 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	156,928,975 - 156,938,402 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	157,076,627 - 157,096,948 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	157,087,055 - 157,096,482 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	156,912,791 - 156,922,217 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	156,779,835 - 156,787,922 (+)	NCBI		MGSCv36	mm8
Celera	2	163,020,296 - 163,029,764 (+)	NCBI		Celera
Cytogenetic Map	2	H1	NCBI
cM Map	2	77.99	NCBI

Tldc2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	166,162,315 - 166,178,881 (+)	NCBI		GRCr8
mRatBN7.2	3	145,742,381 - 145,758,847 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	145,743,619 - 145,758,741 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	3	153,195,295 - 153,208,118 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	153,197,644 - 153,207,816 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	158,506,894 - 158,519,839 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	147,675,172 - 147,687,339 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	144,452,720 - 144,465,559 (+)	NCBI		Celera
Cytogenetic Map	3	q42	NCBI

Tldc2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955422	24,781,806 - 24,793,625 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	24,781,476 - 24,795,112 (-)	NCBI	ChiLan1.0	ChiLan1.0

TLDC2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	21	42,612,137 - 42,626,703 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	42,605,235 - 42,618,976 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	33,204,182 - 33,221,160 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	34,321,315 - 34,342,670 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	34,321,315 - 34,342,664 (+)	Ensembl	panpan1.1		panPan2

TLDC2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	25,602,002 - 25,623,273 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	25,610,851 - 25,623,803 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	25,245,688 - 25,268,284 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	26,297,990 - 26,320,648 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	26,308,277 - 26,321,178 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	25,575,548 - 25,598,308 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	25,676,015 - 25,698,821 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	26,165,476 - 26,188,297 (+)	NCBI		UU_Cfam_GSD_1.0

Tldc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	174,509,374 - 174,519,623 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936561	4,230,257 - 4,241,425 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936561	4,229,945 - 4,241,425 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TLDC2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	40,109,210 - 40,120,399 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	40,105,500 - 40,118,743 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	45,548,275 - 45,557,678 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TLDC2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	57,629,205 - 57,640,736 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	57,627,764 - 57,640,177 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	417,260 - 431,726 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tldc2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624842	2,626,897 - 2,668,822 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624842	2,649,943 - 2,668,957 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TLDC2
81 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 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_015474.4(SAMHD1):c.*240G>A	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_015474.4(SAMHD1):c.*1008C>G	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_015474.4(SAMHD1):c.*288A>G	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_015474.4(SAMHD1):c.*95T>C	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_015474.4(SAMHD1):c.*71C>A	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV000335485]\|Chilblain lupus 2 [RCV000294485]\|not provided [RCV004717377]\|not specified [RCV001731616]	Chr20:36892861 [GRCh38] Chr20:35521264 [GRCh37] Chr20:20q11.23	benign\|likely benign
NM_015474.4(SAMHD1):c.*45C>T	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_015474.4(SAMHD1):c.*629C>T	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV000297560]\|Chilblain lupus 2 [RCV000357040]\|not provided [RCV004717376]	Chr20:36892303 [GRCh38] Chr20:35520706 [GRCh37] Chr20:20q11.23	benign
NM_015474.4(SAMHD1):c.*503A>G	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.*536C>T	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV000405283]\|Chilblain lupus 2 [RCV000303345]	Chr20:36892396 [GRCh38] Chr20:35520799 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.*711A>C	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV000392173]\|Chilblain lupus 2 [RCV000351506]	Chr20:36892221 [GRCh38] Chr20:35520624 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.*362G>A	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV000323445]\|Chilblain lupus 2 [RCV000364067]	Chr20:36892570 [GRCh38] Chr20:35520973 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.*120C>T	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 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
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
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
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
GRCh37/hg19 20q11.23(chr20:35412135-35521238)x3	copy number gain	See cases [RCV000447313]	Chr20:35412135..35521238 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=)	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV000646784]\|SAMHD1-related disorder [RCV004547819]	Chr20:36893016 [GRCh38] Chr20:35521419 [GRCh37] Chr20:20q11.23	benign\|likely 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
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]\|Inborn genetic diseases [RCV004028931]\|not provided [RCV004693372]	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_015474.4(SAMHD1):c.*505T>A	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV001142971]\|Chilblain lupus 2 [RCV001142970]	Chr20:36892427 [GRCh38] Chr20:35520830 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.*871G>A	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV001141118]\|Chilblain lupus 2 [RCV001141119]	Chr20:36892061 [GRCh38] Chr20:35520464 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.1747-17CT[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_015474.4(SAMHD1):c.*882T>C	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV001141116]\|Chilblain lupus 2 [RCV001141117]	Chr20:36892050 [GRCh38] Chr20:35520453 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.*648C>T	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV001142968]\|Chilblain lupus 2 [RCV001142969]	Chr20:36892284 [GRCh38] Chr20:35520687 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.*104G>C	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV001138654]\|Chilblain lupus 2 [RCV001138655]	Chr20:36892828 [GRCh38] Chr20:35521231 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.*717G>C	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_015474.4(SAMHD1):c.1747-190G>A	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]\|not specified [RCV004998900]	Chr20:36892965 [GRCh38] Chr20:35521368 [GRCh37] Chr20:20q11.23	likely benign
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_015474.4(SAMHD1):c.1747-16T>A	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV002168104]	Chr20:36893082 [GRCh38] Chr20:35521485 [GRCh37] Chr20:20q11.23	likely benign
NM_015474.4(SAMHD1):c.1747-12_1747-9del	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_015474.4(SAMHD1):c.1747-17dup	duplication	Aicardi-Goutieres syndrome 5 [RCV002177640]	Chr20:36893082..36893083 [GRCh38] Chr20:35521485..35521486 [GRCh37] Chr20:20q11.23	likely benign
NM_080628.3(TLDC2):c.287G>A (p.Arg96Gln)	single nucleotide variant	not specified [RCV004197820]	Chr20:36879138 [GRCh38] Chr20:35507541 [GRCh37] Chr20:20q11.23	likely benign
NM_080628.3(TLDC2):c.337G>A (p.Gly113Arg)	single nucleotide variant	not specified [RCV004220177]	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_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_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	not specified [RCV004148582]	Chr20:36877933 [GRCh38] Chr20:35506336 [GRCh37] Chr20:20q11.23	uncertain significance
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	not specified [RCV004108762]	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	not specified [RCV004328850]	Chr20:36879123 [GRCh38] Chr20:35507526 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.1747-18del	deletion	Aicardi-Goutieres syndrome 5 [RCV003502851]	Chr20:36893084 [GRCh38] Chr20:35521487 [GRCh37] Chr20:20q11.23	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_015474.4(SAMHD1):c.1747-8C>G	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV003610220]	Chr20:36893074 [GRCh38] Chr20:35521477 [GRCh37] Chr20:20q11.23	likely benign
NM_015474.4(SAMHD1):c.1747-15C>T	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
NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=)	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV003502295]	Chr20:36892974 [GRCh38] Chr20:35521377 [GRCh37] Chr20:20q11.23	likely benign
GRCh37/hg19 20q11.23(chr20:35484010-35540938)x3	copy number gain	not specified [RCV003986135]	Chr20:35484010..35540938 [GRCh37] Chr20:20q11.23	uncertain significance
NM_015474.4(SAMHD1):c.1747-835A>C	single nucleotide variant	SAMHD1-related disorder [RCV004550892]	Chr20:36893901 [GRCh38] Chr20:35522304 [GRCh37] Chr20:20q11.23	likely benign
NM_015474.4(SAMHD1):c.1747-855_1747-843del	deletion	SAMHD1-related disorder [RCV004552823]	Chr20:36893909..36893921 [GRCh38] Chr20:35522312..35522324 [GRCh37] Chr20:20q11.23	likely benign
NM_080628.3(TLDC2):c.353C>G (p.Ala118Gly)	single nucleotide variant	not specified [RCV004470113]	Chr20:36880665 [GRCh38] Chr20:35509068 [GRCh37] Chr20:20q11.23	uncertain significance
NM_080628.3(TLDC2):c.338G>A (p.Gly113Glu)	single nucleotide variant	not specified [RCV004470112]	Chr20:36879189 [GRCh38] Chr20:35507592 [GRCh37] Chr20:20q11.23	uncertain significance
NM_080628.3(TLDC2):c.75C>G (p.Asn25Lys)	single nucleotide variant	not specified [RCV004470114]	Chr20:36877940 [GRCh38] Chr20:35506343 [GRCh37] Chr20:20q11.23	uncertain significance
NM_080628.3(TLDC2):c.131C>G (p.Pro44Arg)	single nucleotide variant	not specified [RCV004470108]	Chr20:36877996 [GRCh38] Chr20:35506399 [GRCh37] Chr20:20q11.23	uncertain significance
NM_080628.3(TLDC2):c.245G>T (p.Cys82Phe)	single nucleotide variant	not specified [RCV004470111]	Chr20:36879096 [GRCh38] Chr20:35507499 [GRCh37] Chr20:20q11.23	uncertain significance
NM_080628.3(TLDC2):c.13C>G (p.Arg5Gly)	single nucleotide variant	not specified [RCV004872372]	Chr20:36876187 [GRCh38] Chr20:35504590 [GRCh37] Chr20:20q11.23	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q11.23(chr20:35335325-35606892)x3	copy number gain	not provided [RCV001834420]	Chr20:35335325..35606892 [GRCh37] Chr20:20q11.23	uncertain significance
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
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.143A>G (p.Gln48Arg)	single nucleotide variant	not specified [RCV004181052]	Chr20:36878008 [GRCh38] Chr20:35506411 [GRCh37] Chr20:20q11.23	uncertain significance
NM_080628.3(TLDC2):c.266G>A (p.Ser89Asn)	single nucleotide variant	not specified [RCV004237220]	Chr20:36879117 [GRCh38] Chr20:35507520 [GRCh37] Chr20:20q11.23	uncertain significance
NM_080628.3(TLDC2):c.148A>G (p.Thr50Ala)	single nucleotide variant	not specified [RCV004191810]	Chr20:36878013 [GRCh38] Chr20:35506416 [GRCh37] Chr20:20q11.23	likely 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.218C>T (p.Thr73Ile)	single nucleotide variant	not specified [RCV004470110]	Chr20:36879069 [GRCh38] Chr20:35507472 [GRCh37] Chr20:20q11.23	uncertain significance
NM_080628.3(TLDC2):c.184C>T (p.Arg62Trp)	single nucleotide variant	not specified [RCV004470109]	Chr20:36878049 [GRCh38] Chr20:35506452 [GRCh37] Chr20:20q11.23	uncertain significance
NM_080628.3(TLDC2):c.220G>A (p.Gly74Ser)	single nucleotide variant	not specified [RCV004872370]	Chr20:36879071 [GRCh38] Chr20:35507474 [GRCh37] Chr20:20q11.23	uncertain significance
NM_080628.3(TLDC2):c.545T>C (p.Leu182Ser)	single nucleotide variant	not specified [RCV004872371]	Chr20:36889283 [GRCh38] Chr20:35517686 [GRCh37] Chr20:20q11.23	uncertain significance

miRNA Target Status (No longer updated)

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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1300007	BP29_H	Blood pressure QTL 29 (human)			Blood pressure	hypertension susceptibility	20	36536005	62536005	Human
597037568	GWAS1133642_H	lung adenocarcinoma, family history of lung cancer QTL GWAS1133642 (human)		0.000004	lung adenocarcinoma, family history of lung cancer		20	36878388	36878389	Human

Markers in Region

WI-16154

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	35,518,642 - 35,518,770	UniSTS	GRCh37
Build 36	20	34,952,056 - 34,952,184	RGD	NCBI36
Celera	20	32,226,154 - 32,226,282	RGD
Cytogenetic Map	20	q11.23	UniSTS
HuRef	20	32,254,346 - 32,254,474	UniSTS
GeneMap99-GB4 RH Map	20	206.85	UniSTS
Whitehead-RH Map	20	233.0	UniSTS
NCBI RH Map	20	306.8	UniSTS

WI-11878

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	35,521,125 - 35,521,253	UniSTS	GRCh37
Build 36	20	34,954,539 - 34,954,667	RGD	NCBI36
Celera	20	32,228,673 - 32,228,801	RGD
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	20	pter-q12	UniSTS
HuRef	20	32,256,849 - 32,256,977	UniSTS
GeneMap99-GB4 RH Map	20	207.11	UniSTS
Whitehead-RH Map	20	232.9	UniSTS
NCBI RH Map	20	307.3	UniSTS

A005D07

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	35,521,144 - 35,521,330	UniSTS	GRCh37
Build 36	20	34,954,558 - 34,954,744	RGD	NCBI36
Celera	20	32,228,692 - 32,228,878	RGD
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	20	pter-q12	UniSTS
HuRef	20	32,256,868 - 32,257,054	UniSTS
GeneMap99-GB4 RH Map	20	207.11	UniSTS
Whitehead-RH Map	20	224.3	UniSTS
NCBI RH Map	20	306.8	UniSTS

RH45857

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	35,520,300 - 35,520,404	UniSTS	GRCh37
Build 36	20	34,953,714 - 34,953,818	RGD	NCBI36
Celera	20	32,227,848 - 32,227,952	RGD
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	20	pter-q12	UniSTS
HuRef	20	32,256,024 - 32,256,128	UniSTS
GeneMap99-GB4 RH Map	20	208.37	UniSTS

SAMHD1_9434

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	35,520,643 - 35,521,175	UniSTS	GRCh37
Build 36	20	34,954,057 - 34,954,589	RGD	NCBI36
Celera	20	32,228,191 - 32,228,723	RGD
HuRef	20	32,256,367 - 32,256,899	UniSTS

RH48138

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	35,522,368 - 35,522,506	UniSTS	GRCh37
Build 36	20	34,955,782 - 34,955,920	RGD	NCBI36
Celera	20	32,229,916 - 32,230,054	RGD
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	20	pter-q12	UniSTS
HuRef	20	32,258,092 - 32,258,230	UniSTS
GeneMap99-GB4 RH Map	20	207.61	UniSTS
NCBI RH Map	20	306.8	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2433	2788	2240	4901	1706	2308	2	609	1861	452	2246	7168	6358	34	3685	840	1732	1587	173	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

Ensembl Acc Id:

ENST00000217320 ⟹ ENSP00000217320

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	36,876,138 - 36,894,235 (+)	Ensembl

Ensembl Acc Id:

ENST00000436941 ⟹ ENSP00000394804

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	36,887,455 - 36,894,235 (+)	Ensembl

Ensembl Acc Id:

ENST00000602922 ⟹ ENSP00000473323

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	36,876,121 - 36,889,863 (+)	Ensembl

RefSeq Acc Id:

NM_001304783 ⟹ NP_001291712

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	36,876,121 - 36,894,235 (+)	NCBI
CHM1_1	20	35,406,076 - 35,424,198 (+)	NCBI
T2T-CHM13v2.0	20	38,600,417 - 38,618,601 (+)	NCBI

Sequence:

show sequence

GGCAGGGCTGAGGATTCACTCACTGCCCACGGCCGGCTGAGCAGGGACAGGAGAATGAGAGGCC
TCCGCTGGCGTTACACTCGGCTGCCCAGCCAGGTGGAGGACACCCTGTCTGGGGAGGAGGGTAA
CGAAGAGGAAGAGGAGGAGGAGGCAGCTCCAGACCCAGCTGCTGCTCCTGAGGATCCCACGGTG
CCCCAGCTGACAGAAGCCAGCCAGGTTTTGAGTGCCTCAGAGATTCGGCAGCTCAGCTTTCACT
TCCCACCAAGAGTCACCGGCCATCCCTGGAGTCTGGTCTTCTGCACGTCAAGGGACGGTTTCAG
CCTGCAGAGCCTGTACCGGCGGATGGAGGGCTGCAGCGGGCCAGTGCTGCTGGTGCTCAGGGAC
CAGGACGGGCAGGTCTTTAAGTGGACTGGAAGCAACTCTTTCTTTGTGAAGGGAGACTTGGATT
CACTGATGATGGGCAGTGGCAGTGGCCGGTTTGGGCTGTGGTTGGATGGAGACTTGTTCCGCGG
GGGAAGCTCCCCTTGCCCGACCTTCAACAACGAGGTGCTGGCCCGGCAGGAGCAGTTCTGCATC
CAGGAGCTGGAGGCTTGGCTTCTCAGCTGACAGCCCTGCGGCAACAGAATTCTATGATTGAAGC
CTCTAAATGAATTGTGCAGGAGAGGGAGTTTGTAAACAACTGACTACAGACATTCACATTGGGT
CATCTTTAAAAAGCTGGACTCTGCTTTTGGATGCTTCTCGGAGGCGAGTTGGATTTTGGACTGA
AGTACTGTCGTTCCATTCCTTTTTTTGAGGTGTTATGAGTGGGGCTATAACATCGCCATCCTAT
TAGGAAGAGAGAGAAAAACAGGCAATAGAGAAAAGCCAGTTTCCATCATCTTATTTCTGAGTGA
AAGTCTCAAGTGCGCACATCCTCATCTTGCATATAGATTGCTTCTAGCTGTCCTCAATCCAGGG
AAACTCCAAATTACATATGCCCTGTGCTTGGGGCAAATTAGAAACACTACAGTCTTACGCAGGA
AGAGCCTTCATGAAAACAGCCACTGGCCTCTGCAGAGATGACTGGGAGCAGCATACCACTGCCC
ACCTCTATGGCCTCCTTCACACACCTTCACGGAGCACAAACTCTGTCCTGTTTTCCCAGGAGAA
AGACGGGATGCACTGAACCCCTAGCTTCTCTCTCGCCTGGTCCCCTCTGCAATAAAAGGCCCAG
GTCTACAAGATGGCAAAGAAGGGGAGGAAGAACAGTATGTACCTGCAGAATTTAAATTTTTCTC
TGCATCAAAGCTCTAACGTTGGTCCCATCAGCATAGGCTCCAGCCAAAGAAGCTCCTCCACCCA
AAATAAGGGAGAGATCCAAAGGGAGGCGATACAATGACGTGAAACCATAGAGGTAAGAAGCAAG
GCCTCCTAATACTTGACTCTATGCTAAACTGTTCTGAACTTGTGGGTAGATCTTCTTTGGTTAC
AAGATGATGCACGATCTTGGAGAGCCTCTGTTGTACCAGGAATACAATGCTGGTGGGAGGATTC
GTGCTCCTCATCTGCTTATTTGCTCTCAGATCCATTCTTCACTCTTCCTCTCCCTACTCTGTCT
CACAGGAGCTACTCCGGTAAATTACATTTCTCAGCTCCCATGCCTGTTGGTTTCCAGTTAGATT
TGGTCAGTGGGAGGCTCTGGTGGGAGACTGGAGGTGAGAAGAGGGCAGAGAAGTCAGGTTTTTT
CTCTCCCTACCTCCTCTGGCACGAGCGGCAGTGGCAGTGACTATTCTGTGGTTCTAGCTTTTGC
AGGTGGCCCCAGCTCCTGGACTCCCACCTGCTCCCTTGGTCTCTCCTATCCTAGAGGTGGTAGC
AGCTTCCTGCTGTTGAATCACTGTCCTCTATGCTCATTTAGCTCTGCCAAAACTTTTGTATCTC
ACCCCCATGTTAAATTTTTTCTGTTGAACTACACTGGATCTGACTTGATAGAACTATTAAAAAT
AGTTTTTAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_080628 ⟹ NP_542195

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	36,876,138 - 36,894,235 (+)	NCBI
GRCh37	20	35,504,570 - 35,522,632 (+)	RGD
Build 36	20	34,937,984 - 34,956,046 (+)	NCBI Archive
Celera	20	32,212,079 - 32,230,180 (+)	RGD
HuRef	20	32,240,663 - 32,258,356 (+)	RGD
CHM1_1	20	35,406,076 - 35,424,198 (+)	NCBI
T2T-CHM13v2.0	20	38,600,434 - 38,618,601 (+)	NCBI

Sequence:

show sequence

ACTCACTGCCCACGGCCGGCTGAGCAGGGACAGGAGAATGAGAGGCCTCCGCTGGCGTTACACT
CGGCTGCCCAGCCAGGTGGAGGACACCCTGTCTGGGGAGGAGGGTAACGAAGAGGAAGAGGAGG
AGGAGGCAGCTCCAGACCCAGCTGCTGCTCCTGAGGATCCCACGGTGCCCCAGCTGACAGAAGC
CAGCCAGGTTTTGAGTGCCTCAGAGATTCGGCAGCTCAGCTTTCACTTCCCACCAAGAGTCACC
GGCCATCCCTGGAGTCTGGTCTTCTGCACGTCAAGGGACGGTTTCAGCCTGCAGAGCCTGTACC
GGCGGATGGAGGGCTGCAGCGGGCCAGTGCTGCTGGTGCTCAGGGACCAGGACGGGCAGATATT
TGGAGCCTTCTCCTCCTCGGCTATCCGACTCAGCAAAGGCTTCTATGGTACTGGCGAGACATTC
CTCTTCTCCTTCTCCCCACAGCTGAAGGTCTTTAAGTGGACTGGAAGCAACTCTTTCTTTGTGA
AGGGAGACTTGGATTCACTGATGATGGGCAGTGGCAGTGGCCGGTTTGGGCTGTGGTTGGATGG
AGACTTGTTCCGCGGGGGAAGCTCCCCTTGCCCGACCTTCAACAACGAGGTGCTGGCCCGGCAG
GAGCAGTTCTGCATCCAGGAGCTGGAGGCTTGGCTTCTCAGCTGACAGCCCTGCGGCAACAGAA
TTCTATGATTGAAGCCTCTAAATGAATTGTGCAGGAGAGGGAGTTTGTAAACAACTGACTACAG
ACATTCACATTGGGTCATCTTTAAAAAGCTGGACTCTGCTTTTGGATGCTTCTCGGAGGCGAGT
TGGATTTTGGACTGAAGTACTGTCGTTCCATTCCTTTTTTTGAGGTGTTATGAGTGGGGCTATA
ACATCGCCATCCTATTAGGAAGAGAGAGAAAAACAGGCAATAGAGAAAAGCCAGTTTCCATCAT
CTTATTTCTGAGTGAAAGTCTCAAGTGCGCACATCCTCATCTTGCATATAGATTGCTTCTAGCT
GTCCTCAATCCAGGGAAACTCCAAATTACATATGCCCTGTGCTTGGGGCAAATTAGAAACACTA
CAGTCTTACGCAGGAAGAGCCTTCATGAAAACAGCCACTGGCCTCTGCAGAGATGACTGGGAGC
AGCATACCACTGCCCACCTCTATGGCCTCCTTCACACACCTTCACGGAGCACAAACTCTGTCCT
GTTTTCCCAGGAGAAAGACGGGATGCACTGAACCCCTAGCTTCTCTCTCGCCTGGTCCCCTCTG
CAATAAAAGGCCCAGGTCTACAAGATGGCAAAGAAGGGGAGGAAGAACAGTATGTACCTGCAGA
ATTTAAATTTTTCTCTGCATCAAAGCTCTAACGTTGGTCCCATCAGCATAGGCTCCAGCCAAAG
AAGCTCCTCCACCCAAAATAAGGGAGAGATCCAAAGGGAGGCGATACAATGACGTGAAACCATA
GAGGTAAGAAGCAAGGCCTCCTAATACTTGACTCTATGCTAAACTGTTCTGAACTTGTGGGTAG
ATCTTCTTTGGTTACAAGATGATGCACGATCTTGGAGAGCCTCTGTTGTACCAGGAATACAATG
CTGGTGGGAGGATTCGTGCTCCTCATCTGCTTATTTGCTCTCAGATCCATTCTTCACTCTTCCT
CTCCCTACTCTGTCTCACAGGAGCTACTCCGGTAAATTACATTTCTCAGCTCCCATGCCTGTTG
GTTTCCAGTTAGATTTGGTCAGTGGGAGGCTCTGGTGGGAGACTGGAGGTGAGAAGAGGGCAGA
GAAGTCAGGTTTTTTCTCTCCCTACCTCCTCTGGCACGAGCGGCAGTGGCAGTGACTATTCTGT
GGTTCTAGCTTTTGCAGGTGGCCCCAGCTCCTGGACTCCCACCTGCTCCCTTGGTCTCTCCTAT
CCTAGAGGTGGTAGCAGCTTCCTGCTGTTGAATCACTGTCCTCTATGCTCATTTAGCTCTGCCA
AAACTTTTGTATCTCACCCCCATGTTAAATTTTTTCTGTTGAACTACACTGGATCTGACTTGAT
AGAACTATTAAAAATAGTTTTTAAAAAA

hide sequence

RefSeq Acc Id:

XM_017027674 ⟹ XP_016883163

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	36,877,967 - 36,889,403 (+)	NCBI

Sequence:

show sequence

TCCAGACCCAGCTGCTGCTCCTGAGGATCCCACGGTGCCCCAGCTGACAGAAGCCAGCCAGGTT
TTGAGTGCCTCAGAGATTCGGCAGCTTTCACTTCCCACCAAGAGTCACCGGCCATCCCTGGAGT
CTGGTCTTCTGCACGTCAAGGGACGGTTTCAGCCTGCAGAGCCTGTACCGGCGGATGGAGGGCT
GCAGCGGGCCAGTGCTGCTGGTGCTCAGGGACCAGGACGGGCAGATATTTGGAGCCTTCTCCTC
CTCGGCTATCCGACTCAGCAAAGGCTTCTATGGTACTGGCGAGACATTCCTCTTCTCCTTCTCC
CCACAGCTGAAGGTCTTTAAGTGGACTGGAAGCAACTCTTTCTTTGTGAAGGGAGACTTGGATT
CACTGATGATGGGCAGTGGCAGTGGCCGGTTTGGGCTGTGGTTGGATGGAGACTTGTTCCGCGG
GGGAAGCTCCCCTTGCCCGACCTTCAACAACGAGGTGCTGGCCCGGCAGGAGCAGTTCTGCATC
CAGGAGCTGGAGGCTTGGCTTCTCAGCTGACAGCCCTGCGGCAACAGGTACTCAGCCCTGCTCA
TGATGCCACCCAGGCCTTCCTGACACACAGCAGCCTGTGCTGTTTGAAACACAGATGGTGAAGG
GCCCTAGAGTTGGCCGAGGCTGCTGGCCAGCCTCCTTGTGGCCTGGGGACCCAAGATACAGGTG
GGGGCAGGCACTGCTCTTTTGCAGAGGTGACTTTGAAGGATTAAAAGACGCTTACACCTTACTC
AAGCAGCACAGAGACCCTAAGCTAACAGGGTCTTAGAAAACTCAGAAAAATCCACATCTCTTCC
CCGCTAGTGCCTGCCTCCTGGCAAAGGGAAGATTTTTCACTATGCTGTTCCTCGCCAGCTACTG
AACGAGGAAAACCAACCTCATGAACATTATCATTTTAGAGGTTCTACAACTGATTCATGTTTAT
TGTAGAAAAACCAGAAGACG

hide sequence

RefSeq Acc Id:

XM_054323011 ⟹ XP_054178986

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	38,597,382 - 38,613,751 (+)	NCBI

RefSeq Acc Id:

XM_054323012 ⟹ XP_054178987

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	38,602,265 - 38,613,751 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001291712	(Get FASTA)	NCBI Sequence Viewer
	NP_542195	(Get FASTA)	NCBI Sequence Viewer
	XP_016883163	(Get FASTA)	NCBI Sequence Viewer
	XP_054178986	(Get FASTA)	NCBI Sequence Viewer
	XP_054178987	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A0PJX2	(Get FASTA)	NCBI Sequence Viewer
	AAI27689	(Get FASTA)	NCBI Sequence Viewer
	AAI30647	(Get FASTA)	NCBI Sequence Viewer
	AAI30649	(Get FASTA)	NCBI Sequence Viewer
	BAG53910	(Get FASTA)	NCBI Sequence Viewer
	EAW76092	(Get FASTA)	NCBI Sequence Viewer
	EAW76093	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000217320
	ENSP00000217320.3
	ENSP00000394804.1
	ENSP00000473323.1

RefSeq Acc Id:	NP_542195 ⟸ NM_080628
- Peptide Label:	isoform 1
- UniProtKB:	B3KVU8 (UniProtKB/Swiss-Prot), A0PJX2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRGLRWRYTRLPSQVEDTLSGEEGNEEEEEEEAAPDPAAAPEDPTVPQLTEASQVLSASEIRQL SFHFPPRVTGHPWSLVFCTSRDGFSLQSLYRRMEGCSGPVLLVLRDQDGQIFGAFSSSAIRLSK GFYGTGETFLFSFSPQLKVFKWTGSNSFFVKGDLDSLMMGSGSGRFGLWLDGDLFRGGSSPCPT FNNEVLARQEQFCIQELEAWLLS hide sequence

RefSeq Acc Id:	NP_001291712 ⟸ NM_001304783
- Peptide Label:	isoform 2
- UniProtKB:	A0PJX2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRGLRWRYTRLPSQVEDTLSGEEGNEEEEEEEAAPDPAAAPEDPTVPQLTEASQVLSASEIRQL SFHFPPRVTGHPWSLVFCTSRDGFSLQSLYRRMEGCSGPVLLVLRDQDGQVFKWTGSNSFFVKG DLDSLMMGSGSGRFGLWLDGDLFRGGSSPCPTFNNEVLARQEQFCIQELEAWLLS hide sequence

RefSeq Acc Id:	XP_016883163 ⟸ XM_017027674
- Peptide Label:	isoform X1
- Sequence:	show sequence MEGCSGPVLLVLRDQDGQIFGAFSSSAIRLSKGFYGTGETFLFSFSPQLKVFKWTGSNSFFVKG DLDSLMMGSGSGRFGLWLDGDLFRGGSSPCPTFNNEVLARQEQFCIQELEAWLLS hide sequence

Ensembl Acc Id:

ENSP00000217320 ⟸ ENST00000217320

Ensembl Acc Id:

ENSP00000473323 ⟸ ENST00000602922

Ensembl 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 Assembly	Chr	Position (strand)	Source
Build 36	20	34,948,984 - 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 Assembly	Chr	Position (strand)	Source
GRCh38	20	36,873,104 - 36,873,164	EPDNEW

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 Assembly	Chr	Position (strand)	Source
GRCh38	20	36,876,138 - 36,876,198	EPDNEW

Additional Information

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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