Advanced Search (OLGA)

Gene: TIGD3 (tigger transposable element derived 3) Homo sapiens

Subscribe to Updates

Analyze

Symbol:

TIGD3

Name:

tigger transposable element derived 3

RGD ID:

1313398

HGNC Page

HGNC:18334

Description:

Predicted to enable DNA binding activity. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

tigger transposable element-derived protein 3

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	11	65,354,751 - 65,357,613 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	65,354,751 - 65,357,613 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	65,122,222 - 65,125,084 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	64,878,858 - 64,881,660 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	64,878,865 - 64,881,523	NCBI
Celera	11	62,448,624 - 62,451,426 (+)	NCBI		Celera
Cytogenetic Map	11	q13.1	NCBI
HuRef	11	61,449,220 - 61,452,022 (+)	NCBI		HuRef
CHM1_1	11	65,006,277 - 65,009,079 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	65,348,054 - 65,350,916 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TIGD3	Human	Aicardi-Goutieres Syndrome 3		IAGP	RGD:156438208	8554872	ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3	ClinVar	PMID:28492532
TIGD3	Human	Bardet-Biedl syndrome		IAGP	RGD:151729098	8554872	ClinVar Annotator: match by term: Bardet-Biedl syndrome	ClinVar	PMID:12118255\|PMID:16786513\|PMID:21520335\|PMID:27032803\|PMID:28492532\|PMID:8316268
TIGD3	Human	glycogen storage disease V		IAGP	RGD:151729098	8554872	ClinVar Annotator: match by term: Glycogen storage disease, type V	ClinVar	PMID:12118255\|PMID:16786513\|PMID:21520335\|PMID:27032803\|PMID:28492532\|PMID:8316268
TIGD3	Human	immunodeficiency 90		IAGP	RGD:156438208	8554872	ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	ClinVar	PMID:28492532
TIGD3	Human	intellectual disability		IAGP	RGD:42723466	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TIGD3	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1550196	6480464	Tetrachlorodibenzodioxin results in decreased expression of TIGD3 mRNA	CTD	PMID:19933214
TIGD3	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1305393	6480464	Tetrachlorodibenzodioxin results in decreased expression of TIGD3 mRNA	CTD	PMID:33387578
TIGD3	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	RGD:1550196	6480464	bisphenol S results in decreased expression of TIGD3 mRNA	CTD	PMID:30951980
TIGD3	Human	acrylamide	increases expression	EXP		6480464	Acrylamide results in increased expression of TIGD3 mRNA	CTD	PMID:32763439
TIGD3	Human	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of TIGD3 mRNA	CTD	PMID:21641981
TIGD3	Human	beta-lapachone	decreases expression	EXP		6480464	beta-lapachone results in decreased expression of TIGD3 mRNA	CTD	PMID:38218311
TIGD3	Human	bis(2-ethylhexyl) phthalate	decreases expression	ISO	RGD:1550196	6480464	Diethylhexyl Phthalate results in decreased expression of TIGD3 mRNA	CTD	PMID:34319233
TIGD3	Human	bisphenol A	decreases expression	ISO	RGD:1305393	6480464	bisphenol A results in decreased expression of TIGD3 mRNA	CTD	PMID:25181051\|PMID:30816183
TIGD3	Human	C60 fullerene	decreases expression	ISO	RGD:1305393	6480464	fullerene C60 results in decreased expression of TIGD3 mRNA	CTD	PMID:19167457
TIGD3	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to TIGD3 gene]	CTD	PMID:28238834
TIGD3	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in increased expression of TIGD3 mRNA	CTD	PMID:27392435
TIGD3	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of TIGD3 mRNA	CTD	PMID:19549813
TIGD3	Human	dexamethasone	multiple interactions	ISO	RGD:1305393	6480464	Testosterone inhibits the reaction [Dexamethasone results in increased expression of TIGD3 mRNA]	CTD	PMID:20032058
TIGD3	Human	dexamethasone	increases expression	ISO	RGD:1305393	6480464	Dexamethasone results in increased expression of TIGD3 mRNA	CTD	PMID:20032058
TIGD3	Human	ethanol	increases expression	ISO	RGD:1550196	6480464	Ethanol results in increased expression of TIGD3 mRNA	CTD	PMID:30319688
TIGD3	Human	glycidol	increases expression	ISO	RGD:1305393	6480464	glycidol results in increased expression of TIGD3 mRNA	CTD	PMID:24915197
TIGD3	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of TIGD3 mRNA	CTD	PMID:20044591
TIGD3	Human	iron dichloride	decreases expression	EXP		6480464	ferrous chloride results in decreased expression of TIGD3 mRNA	CTD	PMID:35984750
TIGD3	Human	leflunomide	decreases expression	EXP		6480464	leflunomide results in decreased expression of TIGD3 mRNA	CTD	PMID:28988120
TIGD3	Human	Licochalcone B	increases expression	EXP		6480464	licochalcone B results in increased expression of TIGD3 mRNA	CTD	PMID:33647349
TIGD3	Human	Monobutylphthalate	increases expression	ISO	RGD:1305393	6480464	monobutyl phthalate results in increased expression of TIGD3 mRNA	CTD	PMID:29162477
TIGD3	Human	niclosamide	decreases expression	EXP		6480464	Niclosamide results in decreased expression of TIGD3 mRNA	CTD	PMID:36318118
TIGD3	Human	okadaic acid	increases expression	EXP		6480464	Okadaic Acid results in increased expression of TIGD3 mRNA	CTD	PMID:38832940
TIGD3	Human	paracetamol	increases expression	ISO	RGD:1305393	6480464	Acetaminophen results in increased expression of TIGD3 mRNA	CTD	PMID:33387578
TIGD3	Human	rotenone	decreases expression	EXP		6480464	Rotenone results in decreased expression of TIGD3 mRNA	CTD	PMID:29955902
TIGD3	Human	silicon dioxide	increases expression	EXP		6480464	Silicon Dioxide analog results in increased expression of TIGD3 mRNA	CTD	PMID:23806026
TIGD3	Human	sodium arsenite	decreases expression	ISO	RGD:1550196	6480464	sodium arsenite results in decreased expression of TIGD3 mRNA	CTD	PMID:36209798
TIGD3	Human	testosterone	multiple interactions	ISO	RGD:1305393	6480464	Testosterone inhibits the reaction [Dexamethasone results in increased expression of TIGD3 mRNA]	CTD	PMID:20032058
TIGD3	Human	thioacetamide	increases expression	ISO	RGD:1305393	6480464	Thioacetamide results in increased expression of TIGD3 mRNA	CTD	PMID:34492290
TIGD3	Human	titanium dioxide	decreases expression	ISO	RGD:1550196	6480464	titanium dioxide results in decreased expression of TIGD3 mRNA	CTD	PMID:29264374
TIGD3	Human	titanium dioxide	increases methylation	ISO	RGD:1550196	6480464	titanium dioxide results in increased methylation of TIGD3 promoter	CTD	PMID:35295148
TIGD3	Human	titanium dioxide	decreases methylation	ISO	RGD:1550196	6480464	titanium dioxide results in decreased methylation of TIGD3 gene	CTD	PMID:35295148
TIGD3	Human	trichostatin A	decreases expression	EXP		6480464	trichostatin A results in decreased expression of TIGD3 mRNA	CTD	PMID:24935251
TIGD3	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of TIGD3 mRNA	CTD	PMID:37042841

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TIGD3	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
TIGD3	Human	nucleus	is_active_in	IBA	MGI:106214\|PANTHER:PTN002712198\|UniProtKB:P07199\|UniProtKB:Q17RP2\|UniProtKB:Q9P215	150520179		GO_Central	GO_REF:0000033
TIGD3	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TIGD3	Human	DNA binding	enables	IEA	InterPro:IPR007889	150520179		InterPro	GO_REF:0000002
TIGD3	Human	DNA binding	enables	IBA	PANTHER:PTN002712198\|PomBase:SPAC9E9.10c\|PomBase:SPBC1105.04c\|SGD:S000002488	150520179		GO_Central	GO_REF:0000033
TIGD3	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
TIGD3	Human	nucleic acid binding	enables	IEA	InterPro:IPR004875	150520179		InterPro	GO_REF:0000002
TIGD3	Human	protein binding	enables	IPI	UniProtKB:Q08117-2\|UniProtKB:Q53GL6\|UniProtKB:Q7KZS0\|UniProtKB:Q86SE5-3\|UniProtKB:Q9UL41	150520179	PMID:32296183	IntAct	PMID:32296183

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TIGD3	Human	Ependymoma		IAGP	RGD:14695619	8554872	ClinVar Annotator: match by term: Ependymoma	ClinVar
TIGD3	Human	Intellectual disability		IAGP	RGD:42723466	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:8889548	PMID:9253601	PMID:12477932	PMID:15489334	PMID:21873635	PMID:22080934	PMID:28514442	PMID:32296183	PMID:33961781	PMID:35748872

TIGD3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	65,354,751 - 65,357,613 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	65,354,751 - 65,357,613 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	65,122,222 - 65,125,084 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	64,878,858 - 64,881,660 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	64,878,865 - 64,881,523	NCBI
Celera	11	62,448,624 - 62,451,426 (+)	NCBI		Celera
Cytogenetic Map	11	q13.1	NCBI
HuRef	11	61,449,220 - 61,452,022 (+)	NCBI		HuRef
CHM1_1	11	65,006,277 - 65,009,079 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	65,348,054 - 65,350,916 (+)	NCBI		T2T-CHM13v2.0

Tigd3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	5,941,166 - 5,944,156 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	5,941,166 - 5,944,177 (-)	Ensembl		GRCm39 Ensembl
GRCm38	19	5,891,138 - 5,894,128 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	5,891,138 - 5,894,149 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	5,891,138 - 5,894,107 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	5,891,138 - 5,894,107 (-)	NCBI		MGSCv36	mm8
Celera	19	5,761,185 - 5,764,154 (-)	NCBI		Celera
Cytogenetic Map	19	A	NCBI
cM Map	19	4.34	NCBI

Tigd3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	212,607,772 - 212,612,683 (-)	NCBI		GRCr8
mRatBN7.2	1	203,178,456 - 203,182,775 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	203,178,460 - 203,181,272 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	211,532,390 - 211,534,809 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	218,624,209 - 218,626,628 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	211,315,255 - 211,317,674 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	221,248,546 - 221,252,284 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	221,248,910 - 221,251,329 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	228,181,523 - 228,184,350 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	208,524,891 - 208,527,310 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	208,678,343 - 208,679,759 (-)	NCBI
Celera	1	200,714,104 - 200,716,523 (-)	NCBI		Celera
Cytogenetic Map	1	q43	NCBI

Tigd3
(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	19,880,777 - 19,883,567 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	19,880,777 - 19,883,567 (-)	NCBI	ChiLan1.0	ChiLan1.0

TIGD3
(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	9	66,588,980 - 66,593,247 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	67,631,095 - 67,638,178 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	60,718,678 - 60,722,729 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	64,058,468 - 64,060,611 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	64,058,807 - 64,060,222 (+)	Ensembl	panpan1.1		panPan2

TIGD3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	51,827,870 - 51,829,746 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	51,828,247 - 51,829,665 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	50,435,469 - 50,438,271 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	52,869,238 - 52,872,040 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	52,869,596 - 52,871,014 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	51,964,914 - 51,967,716 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	51,538,110 - 51,540,910 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	52,332,222 - 52,335,023 (-)	NCBI		UU_Cfam_GSD_1.0

Tigd3
(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_024404947	7,615,927 - 7,618,851 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936599	4,058,692 - 4,060,107 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936599	4,058,345 - 4,061,157 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TIGD3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	6,865,374 - 6,866,789 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	6,865,008 - 6,867,940 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	5,998,683 - 6,001,625 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TIGD3
(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	1	8,883,893 - 8,886,685 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	8,884,276 - 8,885,691 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	106,194,423 - 106,197,269 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tigd3
(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_004624767	21,026,887 - 21,029,559 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624767	21,026,778 - 21,029,599 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TIGD3
41 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	copy number gain	See cases [RCV000141334]	Chr11:65327786..65626431 [GRCh38] Chr11:65095257..65393902 [GRCh37] Chr11:64851833..65150478 [NCBI36] Chr11:11q13.1	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	copy number gain	See cases [RCV000511632]	Chr11:64501919..67129258 [GRCh37] Chr11:11q13.1-13.2	likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_145719.3(TIGD3):c.697G>A (p.Ala233Thr)	single nucleotide variant	not specified [RCV004322181]	Chr11:65356505 [GRCh38] Chr11:65123976 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1374C>G (p.Phe458Leu)	single nucleotide variant	not specified [RCV004332085]	Chr11:65357182 [GRCh38] Chr11:65124653 [GRCh37] Chr11:11q13.1	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q13.1(chr11:65101315-65167325)x3	copy number gain	not provided [RCV000750080]	Chr11:65101315..65167325 [GRCh37] Chr11:11q13.1	benign
NM_145719.3(TIGD3):c.1271C>A (p.Ala424Asp)	single nucleotide variant	not specified [RCV004291459]	Chr11:65357079 [GRCh38] Chr11:65124550 [GRCh37] Chr11:11q13.1	uncertain significance
dup(11)(q13.1q13.1)	duplication	Ependymoma [RCV000785872]	Chr11:63533279..65429676 [GRCh37] Chr11:11q13.1	likely pathogenic
NC_000011.9:g.(?_64973914)_(70052579_?)dup	duplication	Aicardi-Goutieres syndrome 3 [RCV003113322]\|FADD-related immunodeficiency [RCV003107753]	Chr11:64973914..70052579 [GRCh37] Chr11:11q13.1-13.3	uncertain significance
NC_000011.9:g.(?_59596957)_(68707199_?)dup	duplication	Familial temporal lobe epilepsy 8 [RCV001372442]	Chr11:59596957..68707199 [GRCh37] Chr11:11q12.1-13.3	uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	copy number loss	not specified [RCV002052930]	Chr11:64935724..66405514 [GRCh37] Chr11:11q13.1-13.2	uncertain significance
NC_000011.9:g.(?_64522783)_(66283694_?)del	deletion	Bardet-Biedl syndrome [RCV002014493]\|Glycogen storage disease, type V [RCV002004587]	Chr11:64522783..66283694 [GRCh37] Chr11:11q13.1-13.2	pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NM_145719.3(TIGD3):c.677T>C (p.Ile226Thr)	single nucleotide variant	not specified [RCV004126643]	Chr11:65356485 [GRCh38] Chr11:65123956 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.184G>A (p.Gly62Ser)	single nucleotide variant	not specified [RCV004202628]	Chr11:65355992 [GRCh38] Chr11:65123463 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1271C>G (p.Ala424Gly)	single nucleotide variant	not specified [RCV004227902]	Chr11:65357079 [GRCh38] Chr11:65124550 [GRCh37] Chr11:11q13.1	likely benign
NM_145719.3(TIGD3):c.397G>A (p.Val133Ile)	single nucleotide variant	not specified [RCV004113532]	Chr11:65356205 [GRCh38] Chr11:65123676 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.311A>G (p.His104Arg)	single nucleotide variant	not specified [RCV004189643]	Chr11:65356119 [GRCh38] Chr11:65123590 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.565T>A (p.Phe189Ile)	single nucleotide variant	not specified [RCV004082231]	Chr11:65356373 [GRCh38] Chr11:65123844 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.314A>G (p.Lys105Arg)	single nucleotide variant	not specified [RCV004132675]	Chr11:65356122 [GRCh38] Chr11:65123593 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.470A>G (p.Gln157Arg)	single nucleotide variant	not specified [RCV004254640]	Chr11:65356278 [GRCh38] Chr11:65123749 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1039G>A (p.Ala347Thr)	single nucleotide variant	not specified [RCV004306540]	Chr11:65356847 [GRCh38] Chr11:65124318 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1322T>C (p.Leu441Ser)	single nucleotide variant	not specified [RCV004349505]	Chr11:65357130 [GRCh38] Chr11:65124601 [GRCh37] Chr11:11q13.1	uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	copy number gain	not provided [RCV003484842]	Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5	pathogenic
GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	copy number gain	not provided [RCV003484844]	Chr11:64573225..65193732 [GRCh37] Chr11:11q13.1	uncertain significance
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	copy number gain	not specified [RCV003986944]	Chr11:56895955..69295402 [GRCh37] Chr11:11q12.1-13.3	likely pathogenic
NM_145719.3(TIGD3):c.1009G>A (p.Val337Met)	single nucleotide variant	not specified [RCV004467287]	Chr11:65356817 [GRCh38] Chr11:65124288 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.328G>A (p.Ala110Thr)	single nucleotide variant	not specified [RCV004467293]	Chr11:65356136 [GRCh38] Chr11:65123607 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.857C>T (p.Pro286Leu)	single nucleotide variant	not specified [RCV004467295]	Chr11:65356665 [GRCh38] Chr11:65124136 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.137C>T (p.Ser46Leu)	single nucleotide variant	not specified [RCV004467291]	Chr11:65355945 [GRCh38] Chr11:65123416 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1156G>A (p.Gly386Arg)	single nucleotide variant	not specified [RCV004467289]	Chr11:65356964 [GRCh38] Chr11:65124435 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1234A>G (p.Ile412Val)	single nucleotide variant	not specified [RCV004467290]	Chr11:65357042 [GRCh38] Chr11:65124513 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.301A>G (p.Met101Val)	single nucleotide variant	not specified [RCV004467292]	Chr11:65356109 [GRCh38] Chr11:65123580 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.440C>T (p.Pro147Leu)	single nucleotide variant	not specified [RCV004467294]	Chr11:65356248 [GRCh38] Chr11:65123719 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1118C>T (p.Ser373Phe)	single nucleotide variant	not specified [RCV004467288]	Chr11:65356926 [GRCh38] Chr11:65124397 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.994G>A (p.Gly332Arg)	single nucleotide variant	not specified [RCV004676923]	Chr11:65356802 [GRCh38] Chr11:65124273 [GRCh37] Chr11:11q13.1	likely benign
NM_145719.3(TIGD3):c.401G>A (p.Gly134Asp)	single nucleotide variant	not specified [RCV004676927]	Chr11:65356209 [GRCh38] Chr11:65123680 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.536C>T (p.Pro179Leu)	single nucleotide variant	not specified [RCV004686814]	Chr11:65356344 [GRCh38] Chr11:65123815 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1378G>A (p.Asp460Asn)	single nucleotide variant	not specified [RCV004676924]	Chr11:65357186 [GRCh38] Chr11:65124657 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.195C>G (p.Asn65Lys)	single nucleotide variant	not specified [RCV004676926]	Chr11:65356003 [GRCh38] Chr11:65123474 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1121C>G (p.Ser374Trp)	single nucleotide variant	not specified [RCV004686813]	Chr11:65356929 [GRCh38] Chr11:65124400 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.352G>C (p.Val118Leu)	single nucleotide variant	not specified [RCV004870074]	Chr11:65356160 [GRCh38] Chr11:65123631 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.233G>C (p.Gly78Ala)	single nucleotide variant	not specified [RCV004870077]	Chr11:65356041 [GRCh38] Chr11:65123512 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1213T>G (p.Ser405Ala)	single nucleotide variant	not specified [RCV004870081]	Chr11:65357021 [GRCh38] Chr11:65124492 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1031C>A (p.Ala344Glu)	single nucleotide variant	not specified [RCV004870079]	Chr11:65356839 [GRCh38] Chr11:65124310 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1300G>C (p.Ala434Pro)	single nucleotide variant	not specified [RCV004870083]	Chr11:65357108 [GRCh38] Chr11:65124579 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1359G>C (p.Glu453Asp)	single nucleotide variant	not specified [RCV004870084]	Chr11:65357167 [GRCh38] Chr11:65124638 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.718G>C (p.Gly240Arg)	single nucleotide variant	not specified [RCV004870086]	Chr11:65356526 [GRCh38] Chr11:65123997 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.212A>G (p.Lys71Arg)	single nucleotide variant	not specified [RCV004870076]	Chr11:65356020 [GRCh38] Chr11:65123491 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.416A>G (p.His139Arg)	single nucleotide variant	not specified [RCV004870078]	Chr11:65356224 [GRCh38] Chr11:65123695 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1365C>A (p.Phe455Leu)	single nucleotide variant	not specified [RCV004870080]	Chr11:65357173 [GRCh38] Chr11:65124644 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.172G>C (p.Asp58His)	single nucleotide variant	not specified [RCV004878086]	Chr11:65355980 [GRCh38] Chr11:65123451 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.442G>C (p.Glu148Gln)	single nucleotide variant	not specified [RCV004870073]	Chr11:65356250 [GRCh38] Chr11:65123721 [GRCh37] Chr11:11q13.1	uncertain significance
NM_145719.3(TIGD3):c.1129A>T (p.Thr377Ser)	single nucleotide variant	not specified [RCV004870082]	Chr11:65356937 [GRCh38] Chr11:65124408 [GRCh37] Chr11:11q13.1	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	234
Count of miRNA genes:	211
Interacting mature miRNAs:	222
Transcripts:	ENST00000309880
Prediction methods:	Miranda, Rnahybrid, Targetscan
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1357380	BW64_H	Body weight QTL 64 (human)	2.2		Body weight	percent fat after exercise training	11	60978937	86978937	Human

SHGC-53496

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,120,751 - 65,120,942	UniSTS	GRCh37
Build 36	11	64,877,327 - 64,877,518	RGD	NCBI36
Celera	11	62,447,093 - 62,447,284	RGD
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	61,447,689 - 61,447,880	UniSTS
TNG Radiation Hybrid Map	11	28904.0	UniSTS

G54111

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,120,360 - 65,120,472	UniSTS	GRCh37
Build 36	11	64,876,936 - 64,877,048	RGD	NCBI36
Celera	11	62,446,702 - 62,446,814	RGD
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	61,447,298 - 61,447,410	UniSTS

RH45882

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,120,781 - 65,120,908	UniSTS	GRCh37
Build 36	11	64,877,357 - 64,877,484	RGD	NCBI36
Celera	11	62,447,123 - 62,447,250	RGD
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	61,447,719 - 61,447,846	UniSTS
GeneMap99-GB4 RH Map	11	248.6	UniSTS

D11S2302E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,120,283 - 65,120,373	UniSTS	GRCh37
GRCh37	6	131,504,306 - 131,504,396	UniSTS	GRCh37
Build 36	6	131,545,999 - 131,546,089	RGD	NCBI36
Celera	6	132,250,939 - 132,251,029	RGD
Celera	11	62,446,625 - 62,446,715	UniSTS
Cytogenetic Map	6	q23	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
HuRef	11	61,447,221 - 61,447,311	UniSTS
HuRef	6	129,085,563 - 129,085,653	UniSTS
GeneMap99-GB4 RH Map	11	247.35	UniSTS
NCBI RH Map	11	573.2	UniSTS

TIGD3__5261

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,124,403 - 65,125,137	UniSTS	GRCh37
Build 36	11	64,880,979 - 64,881,713	RGD	NCBI36
Celera	11	62,450,745 - 62,451,479	RGD
HuRef	11	61,451,341 - 61,452,075	UniSTS

SHGC-30608

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,124,934 - 65,125,061	UniSTS	GRCh37
Build 36	11	64,881,510 - 64,881,637	RGD	NCBI36
Celera	11	62,451,276 - 62,451,403	RGD
Cytogenetic Map	11	q13.1	UniSTS
HuRef	11	61,451,872 - 61,451,999	UniSTS
TNG Radiation Hybrid Map	11	28904.0	UniSTS
Stanford-G3 RH Map	11	2842.0	UniSTS
GeneMap99-GB4 RH Map	11	247.74	UniSTS
Whitehead-RH Map	11	336.6	UniSTS
NCBI RH Map	11	573.2	UniSTS
GeneMap99-G3 RH Map	11	2842.0	UniSTS

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
1152	2394	2718	2174	4941	1694	2315	5	600	1937	442	2220	7118	6288	52	3725	837	1722	1604	172	1


RefSeq Transcripts	NM_145719	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC000353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF001546	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL558462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP000944	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC074862	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU741546	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DR002049	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000309880 ⟹ ENSP00000308354

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,354,751 - 65,357,613 (+)	Ensembl

RefSeq Acc Id:

NM_145719 ⟹ NP_663771

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	65,354,751 - 65,357,613 (+)	NCBI
GRCh37	11	65,122,282 - 65,125,084 (+)	RGD
Build 36	11	64,878,858 - 64,881,660 (+)	NCBI Archive
Celera	11	62,448,624 - 62,451,426 (+)	RGD
HuRef	11	61,449,220 - 61,452,022 (+)	ENTREZGENE
CHM1_1	11	65,006,277 - 65,009,079 (+)	NCBI
T2T-CHM13v2.0	11	65,348,054 - 65,350,916 (+)	NCBI

Sequence:

show sequence

GCAGCCGGGAGAGAGCCCGGCGCGGGCGGCGCGCACGGGACTCTGCTGTGCGCGCGCCCGCCCGCCCGCCGTCCGCGCAGGCCCTCGGTCCGCTCTGCCCTCGGGGTCGTGGCGCCCATCCCTCCCCT
GTTCTGCTGTCGCCGCCCGGACAGGGGCTCGGGAGCCGGGCTGGGGGCAGGGGCTGGAGCCGCGGGACCAGCGCCTGAGGTGCCCCGGAGAGGCCATGGAGCTGAGCAGCAAGAAGAAGCTTCACGCC
CTGTCCCTGGCCGAGAAGATCCAGGTGCTGGAACTCCTGGATGAGTCCAAGATGTCCCAGTCGGAGGTGGCCCGGCGCTTCCAGGTTTCCCAGCCCCAGATCTCGCGCATCTGCAAGAATAAGGAGAA
GCTGCTGGCGGACTGGTGCAGCGGCACAGCCAACCGAGAGCGCAAGCGCAAGCGGGAGTCCAAGTACAGCGGGATCGACGAGGCTCTGCTCTGCTGGTACCACATTGCCCGGGCCAAGGCCTGGGACG
TGACGGGGCCCATGCTGCTCCACAAAGCCAAGGAGCTGGCCGATATCATGGGCCAGGACTTCGTGCCCAGCATCGGCTGGCTGGTCCGCTGGAAACGCCGAAACAACGTCGGCTTTGGGGCCCGCCAT
GTTCTTGCGCCTTCATTCCCCCCTGAGCCACCTCCCCCGGGGCTCACATCCCAGGCTCAGCTGCCTCTTTCCCTAAAAGACTTCTCTCCAGAGGACGTGTTTGGCTGTGCTGAATTGCCCTTGCTGTA
TCGGGCAGTGCCCGGCAGCTTTGGTGCATGTGATCAAGTACAGGTGCTGCTGTGTGCCAACAGCAGGGGCACCGAGAAGCGGCGGGTACTGCTGGGTGGGCTCCAGGCTGCCCCGAGATGCTTCTTTG
GGATCCGCAGTGAGGCTCTGCCTGCCTCCTACCACCCGGACCTGGGCATCCCCTGGTTAGAGTGGTTGGCACAGTTTGACCGGGACATGGGACAGCAGGGCCGACAGGTGGCTTTGCTGCTGGCTGCC
CGAGTGGTGGAGGAGCTGGCAGGCCTGCCTGGGCTCTACCACGTGAAGCTCTTGCCTCTGGCCGCCTCTAGCACCACGCCTCCCCTGCCCAGCTCAGTGGTCCGGGCCTTTAAGGCCCATTACCGACA
CCGGCTGTTGGGCAAACTGGCTGCCATCCAAAGCGAGAGGGATGGCACCTCGCTGGCCGAGGCCGGGGCAGGCATCACCGTGCTGGACGCCCTGCACGTGGCGTCTGCCGCCTGGGCCAAGGTGCCTC
CTCAGCTCATTTTCAGCAGCTTCATTCAAGAAGGGCTGGCTCCCGGCAAAACGCCCCCGTCCTCGCACAAAACCTCTGAGATGCCACCAGTCCCCGGCGGGCTGAGCCTGGAGGAGTTTTCCCGCTTT
GTGGACCTGGAGGGTGAGGAGCCAAGGTCTGGAGTATGTAAGGAGGAGATAGGCACTGAAGACGAGAAGGGGGACAGAGAGGGTGCCTTTGAGCCCCTGCCCACCAAAGCTGATGCCCTCCGGGCCCT
GGGCACCTTGAGGAGGTGGTTTGAATGCAACAGCACTTCTCCTGAGCTATTCGAAAAATTCTACGACTGTGAGGAGGAGGTGGAGCGGCTTTGCTGCCTATGAAGGCGCCTTCACTGCTTGCCAGAGC
CCCTTCCTCTCTTGTTTCCCATGGAAACGGCCTCTTCAGAAGGCAGATCGGGCTGTCTCTTTCCTGTGGAAATAGAACTGTCGTAAAGGTGTAGAAGGGAGAGAAGTTGGGACACCAAGTCTGAGCTT
GGAGTGGCAGTCGTCCAAACCCCAGGAAGAGAGCTCTAAAGATGGGGCTTCGGGGGTAGGAATCCAGGATGCTTAGTTTCTAGACCCTGCTTGAAAGTTCTAGAGCCTTTGAAAGGGAGTTAGTCTAG
AGGCAGCCACTTAGAAAGGTGGAATTTGGGCTTTTTGGACAGACTGCTTCCTTGAACTTTGTGTTAAAAACAGTTCTGCTTCTGAAAATAAAGTTTTTAATCAGAAAA

hide sequence


Protein RefSeqs	NP_663771	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH74862	(Get FASTA)	NCBI Sequence Viewer
	EAW74378	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000308354
	ENSP00000308354.5
GenBank Protein	Q6B0B8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_663771 ⟸ NM_145719

- UniProtKB:

Q6B0B8 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MELSSKKKLHALSLAEKIQVLELLDESKMSQSEVARRFQVSQPQISRICKNKEKLLADWCSGTANRERKRKRESKYSGIDEALLCWYHIARAKAWDVTGPMLLHKAKELADIMGQDFVPSIGWLVRWK
RRNNVGFGARHVLAPSFPPEPPPPGLTSQAQLPLSLKDFSPEDVFGCAELPLLYRAVPGSFGACDQVQVLLCANSRGTEKRRVLLGGLQAAPRCFFGIRSEALPASYHPDLGIPWLEWLAQFDRDMGQ
QGRQVALLLAARVVEELAGLPGLYHVKLLPLAASSTTPPLPSSVVRAFKAHYRHRLLGKLAAIQSERDGTSLAEAGAGITVLDALHVASAAWAKVPPQLIFSSFIQEGLAPGKTPPSSHKTSEMPPVP
GGLSLEEFSRFVDLEGEEPRSGVCKEEIGTEDEKGDREGAFEPLPTKADALRALGTLRRWFECNSTSPELFEKFYDCEEEVERLCCL

hide sequence

Ensembl Acc Id:

ENSP00000308354 ⟸ ENST00000309880

Protein Domains

DDE-1 HTH CENPB-type HTH psq-type

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6B0B8-F1-model_v2	AlphaFold	Q6B0B8	1-471	view protein structure

RGD ID:

6789432

Promoter ID:

HG_KWN:13319

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_145719

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	64,878,216 - 64,878,907 (+)	MPROMDB

RGD ID:

6788811

Promoter ID:

HG_KWN:13320

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000394262

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	64,878,841 - 64,879,442 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	TIGD3	COSMIC
Ensembl Genes	ENSG00000173825	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000309880	ENTREZGENE
	ENST00000309880.6	UniProtKB/Swiss-Prot
Gene3D-CATH	Homeodomain-like	UniProtKB/Swiss-Prot
GTEx	ENSG00000173825	GTEx
HGNC ID	HGNC:18334	ENTREZGENE
Human Proteome Map	TIGD3	Human Proteome Map
InterPro	CenT-Element_Derived	UniProtKB/Swiss-Prot
	DDE_SF_endonuclease_dom	UniProtKB/Swiss-Prot
	Homeobox-like_sf	UniProtKB/Swiss-Prot
	HTH_CenpB_DNA-bd_dom	UniProtKB/Swiss-Prot
	HTH_Psq	UniProtKB/Swiss-Prot
KEGG Report	hsa:220359	UniProtKB/Swiss-Prot
NCBI Gene	220359	ENTREZGENE
OMIM	619084	OMIM
PANTHER	TIGGER TRANSPOSABLE ELEMENT-DERIVED PROTEIN 3	UniProtKB/Swiss-Prot
	TRANSPOSON	UniProtKB/Swiss-Prot
Pfam	CENP-B_N	UniProtKB/Swiss-Prot
	DDE_1	UniProtKB/Swiss-Prot
	HTH_Tnp_Tc5	UniProtKB/Swiss-Prot
PharmGKB	PA38527	PharmGKB
PROSITE	HTH_CENPB	UniProtKB/Swiss-Prot
	HTH_PSQ	UniProtKB/Swiss-Prot
SMART	CENPB	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF46689	UniProtKB/Swiss-Prot
UniProt	Q6B0B8	ENTREZGENE, UniProtKB/Swiss-Prot

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


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


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

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

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar