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Gene: TBPL2 (TATA-box binding protein like 2) Homo sapiens

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Symbol:

TBPL2

Name:

TATA-box binding protein like 2

RGD ID:

1342829

HGNC Page

HGNC:19841

Description:

Predicted to enable RNA polymerase II general transcription initiation factor activity. Predicted to be involved in DNA-templated transcription initiation. Located in cytoplasm and nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

TATA box binding protein like 2; TATA box-binding protein-like 2; TATA box-binding protein-like protein 2; TATA box-binding protein-related factor 3; TBP-like 2; TBP-like protein 2; TBP-related factor 3; TBP2; TRF3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tbpl2 (TATA box binding protein like 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tbpl2 (TATA box binding protein-like 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tbpl2 (TATA-box binding protein like 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TBPL2 (TATA-box binding protein like 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	TBPL2 (TATA-box binding protein like 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tbpl2 (TATA-box binding protein like 2)	NCBI	Ortholog
Sus scrofa (pig):	TBPL2 (TATA-box binding protein like 2)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TBPL2 (TATA-box binding protein like 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tbpl2 (TATA-box binding protein like 2)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tbpl2 (TATA box binding protein-like 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tbpl2 (TATA box binding protein like 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tbpl2 (TATA box binding protein like 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Drosophila melanogaster (fruit fly):	Tbp	Alliance	DIOPT (Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Saccharomyces cerevisiae (baker's yeast):	SPT15	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	tbp-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tbpl2.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	tbpl2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	14	55,414,210 - 55,440,616 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	55,414,210 - 55,456,726 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	55,880,928 - 55,907,334 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	54,950,681 - 54,977,016 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	54,950,684 - 54,977,016	NCBI
Celera	14	35,930,314 - 35,956,646 (-)	NCBI		Celera
Cytogenetic Map	14	q22.3	NCBI
HuRef	14	36,044,117 - 36,070,458 (-)	NCBI		HuRef
CHM1_1	14	55,819,427 - 55,845,666 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	49,619,941 - 49,646,349 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBPL2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Tbpl2 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of TBPL2 mRNA	CTD	PMID:24058054
TBPL2	Human	acrylamide	decreases expression	ISO	Tbpl2 (Mus musculus)	6480464	Acrylamide results in decreased expression of TBPL2 mRNA	CTD	PMID:30807115
TBPL2	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of TBPL2 gene	CTD	PMID:27153756
TBPL2	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of TBPL2 exon and Benzo(a)pyrene affects the methylation of TBPL2 promoter	CTD	PMID:27901495
TBPL2	Human	bisphenol A	decreases expression	ISO	Tbpl2 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of TBPL2 mRNA	CTD	PMID:25181051
TBPL2	Human	bisphenol A	increases methylation	EXP		6480464	bisphenol A results in increased methylation of TBPL2 gene	CTD	PMID:31601247
TBPL2	Human	cadmium dichloride	decreases methylation	ISO	Tbpl2 (Rattus norvegicus)	6480464	Cadmium Chloride results in decreased methylation of TBPL2 promoter	CTD	PMID:22457795
TBPL2	Human	GW 4064	decreases expression	ISO	Tbpl2 (Mus musculus)	6480464	GW 4064 results in decreased expression of TBPL2 mRNA	CTD	PMID:26655953
TBPL2	Human	methotrexate	affects expression	ISO	Tbpl2 (Mus musculus)	6480464	Methotrexate affects the expression of TBPL2 mRNA	CTD	PMID:18502557
TBPL2	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of TBPL2 mRNA	CTD	PMID:22230336
TBPL2	Human	titanium dioxide	increases expression	ISO	Tbpl2 (Mus musculus)	6480464	titanium dioxide results in increased expression of TBPL2 mRNA	CTD	PMID:35295148
TBPL2	Human	valproic acid	decreases methylation	EXP		6480464	Valproic Acid results in decreased methylation of TBPL2 gene	CTD	PMID:29154799

Biological Process

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBPL2	Human	DNA-templated transcription initiation	involved_in	IEA	InterPro:IPR000814 and InterPro:IPR033710	150520179		InterPro	GO_REF:0000002
TBPL2	Human	DNA-templated transcription initiation	involved_in	IBA	CGD:CAL0000189736 more ...	150520179		GO_Central	GO_REF:0000033
TBPL2	Human	transcription by RNA polymerase II	involved_in	IEA	GO:0016251	150520179		GOC	GO_REF:0000108

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)
TBPL2	Human	cytoplasm	located_in	IDA		150520179	PMID:14634207	UniProt	PMID:14634207
TBPL2	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
TBPL2	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
TBPL2	Human	cytoplasm	located_in	IEA	UniProtKB:Q6SJ95 and ensembl:ENSMUSP00000079309	150520179		Ensembl	GO_REF:0000107
TBPL2	Human	female germ cell nucleus	located_in	IEA	UniProtKB:Q6SJ95 and ensembl:ENSMUSP00000079309	150520179		Ensembl	GO_REF:0000107
TBPL2	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
TBPL2	Human	nucleus	located_in	IDA		150520179	PMID:14634207	UniProt	PMID:14634207
TBPL2	Human	nucleus	located_in	IEA	UniProtKB:Q6SJ95 and ensembl:ENSMUSP00000079309	150520179		Ensembl	GO_REF:0000107
TBPL2	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044

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)
TBPL2	Human	DNA binding	enables	IEA	UniProtKB:Q6SJ95 and ensembl:ENSMUSP00000079309	150520179		Ensembl	GO_REF:0000107
TBPL2	Human	DNA binding	enables	IEA	InterPro:IPR000814 and InterPro:IPR033710	150520179		InterPro	GO_REF:0000002
TBPL2	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
TBPL2	Human	protein binding	enables	ISO	UniProtKB:Q5HZG4	9068941	PMID:17704303	IntAct	PMID:17704303
TBPL2	Human	RNA polymerase II general transcription initiation factor activity	enables	IBA	PANTHER:PTN000013137 more ...	150520179		GO_Central	GO_REF:0000033

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBPL2	Human	Huntington's disease pathway		IEA		6907045		KEGG	hsa:05016

#	Reference Title	Reference Citation
1.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:12477932	PMID:14634207	PMID:15234975	PMID:17570761	PMID:17643375	PMID:17704303	PMID:18555775	PMID:18976975	PMID:19351825	PMID:20379614	PMID:21873635	PMID:27642674
PMID:29229926	PMID:31091453	PMID:32448362	PMID:33541821	PMID:33966269

TBPL2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	55,414,210 - 55,440,616 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	55,414,210 - 55,456,726 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	55,880,928 - 55,907,334 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	54,950,681 - 54,977,016 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	54,950,684 - 54,977,016	NCBI
Celera	14	35,930,314 - 35,956,646 (-)	NCBI		Celera
Cytogenetic Map	14	q22.3	NCBI
HuRef	14	36,044,117 - 36,070,458 (-)	NCBI		HuRef
CHM1_1	14	55,819,427 - 55,845,666 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	49,619,941 - 49,646,349 (-)	NCBI		T2T-CHM13v2.0

Tbpl2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	23,961,378 - 23,986,607 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	23,961,733 - 23,986,607 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	24,071,366 - 24,096,595 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	24,071,721 - 24,096,595 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	23,927,241 - 23,952,115 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	23,893,730 - 23,918,604 (-)	NCBI		MGSCv36	mm8
Celera	2	23,801,598 - 23,826,565 (-)	NCBI		Celera
Cytogenetic Map	2	A3	NCBI
cM Map	2	16.14	NCBI

Tbpl2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	27,170,209 - 27,191,665 (-)	NCBI		GRCr8
mRatBN7.2	3	6,771,825 - 6,793,281 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	6,772,419 - 6,793,231 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	9,866,546 - 9,887,327 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	18,452,785 - 18,473,566 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	16,642,588 - 16,663,369 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	1,095,883 - 1,116,677 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	1,095,883 - 1,116,677 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	1,087,370 - 1,108,164 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	2,253,775 - 2,274,569 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	1,610,514 - 1,631,308 (-)	NCBI		Celera
Cytogenetic Map	3	p13	NCBI

Tbpl2
(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_004955466	13,871,562 - 13,897,302 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955466	13,869,429 - 13,897,302 (+)	NCBI	ChiLan1.0	ChiLan1.0

TBPL2
(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	15	56,535,651 - 56,563,640 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	55,752,165 - 55,780,154 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	36,001,021 - 36,027,796 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	54,274,367 - 54,301,003 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	54,274,367 - 54,301,003 (-)	Ensembl	panpan1.1		panPan2

TBPL2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	8	31,235,996 - 31,269,777 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	31,236,285 - 31,260,936 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	31,002,723 - 31,027,391 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	31,495,114 - 31,518,043 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	8	31,495,067 - 31,524,831 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	8	31,097,962 - 31,122,802 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	31,174,633 - 31,199,174 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	31,540,208 - 31,565,673 (-)	NCBI		UU_Cfam_GSD_1.0

Tbpl2
(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	73,971,972 - 73,994,012 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936495	197,687 - 219,477 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936495	197,687 - 219,727 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TBPL2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	184,745,799 - 184,792,502 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	184,745,719 - 184,772,051 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	205,296,071 - 205,384,145 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TBPL2
(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	24	32,607,375 - 32,633,190 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666053	20,828,867 - 20,854,033 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tbpl2
(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_004624884	222,198 - 256,319 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624884	221,409 - 256,396 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TBPL2
34 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	copy number loss	See cases [RCV000051519]	Chr14:50591011..56286919 [GRCh38] Chr14:51057729..56753637 [GRCh37] Chr14:50127479..55823390 [NCBI36] Chr14:14q22.1-22.3	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	copy number gain	See cases [RCV000140717]	Chr14:39196172..56714461 [GRCh38] Chr14:39665376..57181179 [GRCh37] Chr14:38735127..56250932 [NCBI36] Chr14:14q21.1-22.3	likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	See cases [RCV000446256]	Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
NM_199047.3(TBPL2):c.-20C>G	single nucleotide variant	not specified [RCV004312348]	Chr14:55440469 [GRCh38] Chr14:55907187 [GRCh37] Chr14:14q22.3	uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3	copy number gain	not provided [RCV000738412]	Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3	copy number gain	not provided [RCV000738413]	Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3	copy number gain	not provided [RCV000738414]	Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
NM_199047.3(TBPL2):c.852G>A (p.Gln284=)	single nucleotide variant	not provided [RCV000883787]	Chr14:55428815 [GRCh38] Chr14:55895533 [GRCh37] Chr14:14q22.3	benign
NM_199047.3(TBPL2):c.632A>G (p.Glu211Gly)	single nucleotide variant	not specified [RCV004314492]	Chr14:55433690 [GRCh38] Chr14:55900408 [GRCh37] Chr14:14q22.3	uncertain significance
GRCh37/hg19 14q22.3(chr14:55615073-58043694)x1	copy number loss	not provided [RCV001006636]	Chr14:55615073..58043694 [GRCh37] Chr14:14q22.3	pathogenic
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	copy number gain	14q22.2q24.3 duplication [RCV001506967]	Chr14:54654001..75828024 [GRCh37] Chr14:14q22.2-24.3	likely pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	copy number gain	See cases [RCV002286356]	Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33	pathogenic
NM_199047.3(TBPL2):c.898A>G (p.Met300Val)	single nucleotide variant	not specified [RCV004232221]	Chr14:55424216 [GRCh38] Chr14:55890934 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.32A>G (p.Tyr11Cys)	single nucleotide variant	not specified [RCV004150397]	Chr14:55440418 [GRCh38] Chr14:55907136 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.287A>C (p.Gln96Pro)	single nucleotide variant	not specified [RCV004115714]	Chr14:55436786 [GRCh38] Chr14:55903504 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.319G>A (p.Glu107Lys)	single nucleotide variant	not specified [RCV004175548]	Chr14:55436754 [GRCh38] Chr14:55903472 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.730C>T (p.Arg244Cys)	single nucleotide variant	not specified [RCV004180039]	Chr14:55428937 [GRCh38] Chr14:55895655 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.134C>T (p.Pro45Leu)	single nucleotide variant	not specified [RCV004195386]	Chr14:55436939 [GRCh38] Chr14:55903657 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.967C>T (p.Arg323Cys)	single nucleotide variant	not specified [RCV004315519]	Chr14:55414444 [GRCh38] Chr14:55881162 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.862T>C (p.Tyr288His)	single nucleotide variant	not specified [RCV004315440]	Chr14:55424252 [GRCh38] Chr14:55890970 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.142G>A (p.Ala48Thr)	single nucleotide variant	not specified [RCV004263309]	Chr14:55436931 [GRCh38] Chr14:55903649 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.631G>A (p.Glu211Lys)	single nucleotide variant	not specified [RCV004266729]	Chr14:55433691 [GRCh38] Chr14:55900409 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.8A>G (p.Gln3Arg)	single nucleotide variant	not specified [RCV004353159]	Chr14:55440442 [GRCh38] Chr14:55907160 [GRCh37] Chr14:14q22.3	uncertain significance
GRCh37/hg19 14q22.3(chr14:55900467-55991743)x1	copy number loss	not provided [RCV003483206]	Chr14:55900467..55991743 [GRCh37] Chr14:14q22.3	uncertain significance
GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	copy number loss	not provided [RCV003483204]	Chr14:55667390..64447598 [GRCh37] Chr14:14q22.3-23.2	pathogenic
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	copy number gain	not provided [RCV003485022]	Chr14:20511673..61826023 [GRCh37] Chr14:14q11.2-23.1	pathogenic
NM_199047.3(TBPL2):c.768C>T (p.Leu256=)	single nucleotide variant	not provided [RCV003390403]	Chr14:55428899 [GRCh38] Chr14:55895617 [GRCh37] Chr14:14q22.3	benign
GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	copy number loss	Dystonia 5 [RCV003984308]	Chr14:53949639..56297420 [GRCh38] Chr14:14q22.2-22.3	pathogenic
NM_199047.3(TBPL2):c.757G>C (p.Ala253Pro)	single nucleotide variant	not specified [RCV004474236]	Chr14:55428910 [GRCh38] Chr14:55895628 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.809G>C (p.Arg270Thr)	single nucleotide variant	not specified [RCV004474237]	Chr14:55428858 [GRCh38] Chr14:55895576 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.953C>T (p.Thr318Ile)	single nucleotide variant	not specified [RCV004474230]	Chr14:55424161 [GRCh38] Chr14:55890879 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.345C>G (p.Asn115Lys)	single nucleotide variant	not specified [RCV004474231]	Chr14:55436728 [GRCh38] Chr14:55903446 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.-50C>G	single nucleotide variant	not specified [RCV004474232]	Chr14:55440499 [GRCh38] Chr14:55907217 [GRCh37] Chr14:14q22.3	likely benign
NM_199047.3(TBPL2):c.-38C>T	single nucleotide variant	not specified [RCV004474233]	Chr14:55440487 [GRCh38] Chr14:55907205 [GRCh37] Chr14:14q22.3	likely benign
NM_199047.3(TBPL2):c.547T>G (p.Leu183Val)	single nucleotide variant	not specified [RCV004474234]	Chr14:55435900 [GRCh38] Chr14:55902618 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.734T>C (p.Val245Ala)	single nucleotide variant	not specified [RCV004474235]	Chr14:55428933 [GRCh38] Chr14:55895651 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.899T>C (p.Met300Thr)	single nucleotide variant	not specified [RCV004673526]	Chr14:55424215 [GRCh38] Chr14:55890933 [GRCh37] Chr14:14q22.3	uncertain significance
GRCh37/hg19 14q22.2-22.3(chr14:54866611-57272174)x1	copy number loss	Syndromic microphthalmia type 5 [RCV004767758]	Chr14:54866611..57272174 [GRCh37] Chr14:14q22.2-22.3	likely pathogenic
NM_199047.3(TBPL2):c.466C>A (p.Pro156Thr)	single nucleotide variant	not specified [RCV004869582]	Chr14:55436607 [GRCh38] Chr14:55903325 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.754C>T (p.Pro252Ser)	single nucleotide variant	not specified [RCV004869583]	Chr14:55428913 [GRCh38] Chr14:55895631 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.39C>G (p.Asp13Glu)	single nucleotide variant	not specified [RCV004869584]	Chr14:55440411 [GRCh38] Chr14:55907129 [GRCh37] Chr14:14q22.3	uncertain significance
NM_199047.3(TBPL2):c.564A>G (p.Ile188Met)	single nucleotide variant	not specified [RCV004878001]	Chr14:55435883 [GRCh38] Chr14:55902601 [GRCh37] Chr14:14q22.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	356
Count of miRNA genes:	312
Interacting mature miRNAs:	328
Transcripts:	ENST00000247219, ENST00000556755
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
406968741	GWAS617717_H	platelet count QTL GWAS617717 (human)		3e-10	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	14	55430820	55430821	Human
406971460	GWAS620436_H	femoral neck bone mineral density QTL GWAS620436 (human)		0.0000007	bone mineralization trait (VT:0002896)	bone mineral density (CMO:0001226)	14	55420985	55420986	Human
597112226	GWAS1208300_H	platelet count QTL GWAS1208300 (human)		6e-12	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	14	55421495	55421496	Human
597201759	GWAS1297833_H	pregnancy disorder QTL GWAS1297833 (human)		0.000001	pregnancy disorder		14	55432698	55432699	Human
406971451	GWAS620427_H	bone mineral content measurement QTL GWAS620427 (human)		0.0000002	bone mineral content measurement		14	55437708	55437709	Human

G62872

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	55,904,529 - 55,904,862	UniSTS	GRCh37
Build 36	14	54,974,282 - 54,974,615	RGD	NCBI36
Celera	14	35,953,910 - 35,954,243	RGD
Cytogenetic Map	14	q22.3	UniSTS
HuRef	14	36,067,722 - 36,068,055	UniSTS
TNG Radiation Hybrid Map	14	16671.0	UniSTS

SHGC-148141

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	55,895,112 - 55,895,385	UniSTS	GRCh37
Build 36	14	54,964,865 - 54,965,138	RGD	NCBI36
Celera	14	35,944,502 - 35,944,775	RGD
Cytogenetic Map	14	q22.3	UniSTS
HuRef	14	36,058,307 - 36,058,580	UniSTS
TNG Radiation Hybrid Map	14	16653.0	UniSTS

G35982

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	55,893,063 - 55,893,239	UniSTS	GRCh37
Build 36	14	54,962,816 - 54,962,992	RGD	NCBI36
Celera	14	35,942,451 - 35,942,627	RGD
Cytogenetic Map	14	q22.3	UniSTS
HuRef	14	36,056,252 - 36,056,428	UniSTS

G36200

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	55,896,581 - 55,896,686	UniSTS	GRCh37
Build 36	14	54,966,334 - 54,966,439	RGD	NCBI36
Celera	14	35,945,971 - 35,946,076	RGD
Cytogenetic Map	14	q22.3	UniSTS
HuRef	14	36,059,777 - 36,059,882	UniSTS

G35708

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	55,896,897 - 55,897,068	UniSTS	GRCh37
Build 36	14	54,966,650 - 54,966,821	RGD	NCBI36
Celera	14	35,946,287 - 35,946,458	RGD
Cytogenetic Map	14	q22.3	UniSTS
HuRef	14	36,060,093 - 36,060,264	UniSTS

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

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
502	892	1287	655	2581	697	1066	4	147	475	94	1568	2206	1969	51	1638	319	1058	865	64


RefSeq Transcripts	NM_199047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL356801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY457923	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC117159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC117185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ448593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000247219 ⟹ ENSP00000247219

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	55,414,210 - 55,440,616 (-)	Ensembl

Ensembl Acc Id:

ENST00000556755 ⟹ ENSP00000451597

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	55,436,898 - 55,456,726 (-)	Ensembl

RefSeq Acc Id:

NM_199047 ⟹ NP_950248

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	55,414,210 - 55,440,616 (-)	NCBI
GRCh37	14	55,880,928 - 55,907,263 (-)	RGD
Build 36	14	54,950,681 - 54,977,016 (-)	NCBI Archive
Celera	14	35,930,314 - 35,956,646 (-)	RGD
HuRef	14	36,044,117 - 36,070,458 (-)	RGD
CHM1_1	14	55,819,427 - 55,845,666 (-)	NCBI
T2T-CHM13v2.0	14	49,619,941 - 49,646,349 (-)	NCBI

Sequence:

show sequence

ATGGCCTCTGCGCCCTGGCCGGAGCGGGTTCCGAGGCTGCTCGCTCCGCGCTTACCCTCTTACCCGCCCCCACCCCCAACAGTGGGATTACGGTCCATGGAGCAGGAGGAGACCTACCTGGAGCTCTA
CCTGGACCAGTGCGCCGCTCAGGATGGCCTTGCCCCACCCAGGTCTCCCCTGTTCAGCCCAGTTGTACCTTATGATATGTACATACTGAATGCATCCAATCCGGATACTGCATTTAATTCGAACCCTG
AAGTCAAAGAAACATCTGGTGATTTCTCATCTGTGGATCTTAGCTTCCTACCAGATGAAGTTACCCAGGAAAATAAAGACCAGCCTGTCATTAGCAAACACGAAACTGAAGAAAATTCTGAAAGCCAA
AGTCCACAAAGTAGGTTGCCATCACCCAGCGAACAGGACGTTGGGCTGGGCTTAAACAGCAGCAGTTTGTCAAATTCCCATTCACAGCTGCACCCTGGTGATACTGACTCAGTCCAGCCCTCTCCTGA
GAAACCAAACTCCGACTCCTTGTCTCTGGCATCCATAACTCCCATGACACCAATGACCCCTATTTCAGAATGTTGTGGAATTGTACCTCAACTACAGAATATAGTTTCCACTGTAAACCTGGCCTGTA
AGTTGGATCTGAAGAAAATAGCTTTGCATGCAAAAAATGCAGAATATAACCCAAAGAGGTTTGCTGCTGTCATAATGAGGATCCGAGAGCCCAGGACAACAGCCCTTATATTTAGCTCTGGGAAGATG
GTCTGCACGGGAGCCAAAAGTGAAGAGCAGTCTCGACTTGCAGCAAGAAAATATGCTCGTGTGGTGCAGAAGCTTGGGTTCCCTGCCAGATTCCTCGATTTTAAAATTCAGAACATGGTTGGAAGCTG
TGATGTGAGATTTCCCATCAGGCTGGAAGGTTTGGTGCTAACCCATCAGCAGTTCAGTAGTTACGAGCCTGAACTGTTTCCTGGTCTTATTTATAGAATGGTAAAACCACGAATTGTGTTGCTTATCT
TTGTATCTGGAAAAGTTGTGTTGACAGGTGCCAAAGAACGTTCTGAGATCTATGAAGCATTTGAAAACATCTATCCTATTCTAAAAGGTTTTAAAAAAGCCTGAGCATATCATTCAGCATCTCACATT
ATTCTGGTTTGAATATGTCCATAAGCCCAGCACAGAAACAGCTGGATTCTTCTACGTTTAATTGTAGATGTTACAAGTACGTTACTTATTAAAGGGCGACTCTGTGTAAGTAACCTAAGAAACGAAGA
AAAATTCTTATTCAAAAAAAAAAA

hide sequence


Protein RefSeqs	NP_950248	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI17160	(Get FASTA)	NCBI Sequence Viewer
	AAI17186	(Get FASTA)	NCBI Sequence Viewer
	AAR24281	(Get FASTA)	NCBI Sequence Viewer
	ABD93323	(Get FASTA)	NCBI Sequence Viewer
	EAW80675	(Get FASTA)	NCBI Sequence Viewer
	EAW80676	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000247219
	ENSP00000247219.6
GenBank Protein	Q6SJ96	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_950248 ⟸ NM_199047

- UniProtKB:

Q6SJ96 (UniProtKB/Swiss-Prot), Q17RU8 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MASAPWPERVPRLLAPRLPSYPPPPPTVGLRSMEQEETYLELYLDQCAAQDGLAPPRSPLFSPVVPYDMYILNASNPDTAFNSNPEVKETSGDFSSVDLSFLPDEVTQENKDQPVISKHETEENSESQ
SPQSRLPSPSEQDVGLGLNSSSLSNSHSQLHPGDTDSVQPSPEKPNSDSLSLASITPMTPMTPISECCGIVPQLQNIVSTVNLACKLDLKKIALHAKNAEYNPKRFAAVIMRIREPRTTALIFSSGKM
VCTGAKSEEQSRLAARKYARVVQKLGFPARFLDFKIQNMVGSCDVRFPIRLEGLVLTHQQFSSYEPELFPGLIYRMVKPRIVLLIFVSGKVVLTGAKERSEIYEAFENIYPILKGFKKA

hide sequence

Ensembl Acc Id:

ENSP00000451597 ⟸ ENST00000556755

Ensembl Acc Id:

ENSP00000247219 ⟸ ENST00000247219

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6SJ96-F1-model_v2	AlphaFold	Q6SJ96	1-375	view protein structure

RGD ID:

7227695

Promoter ID:

EPDNEW_H19593

Type:

initiation region

Name:

TBPL2_1

Description:

TATA-box binding protein like 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	55,440,653 - 55,440,713	EPDNEW

Database	Acc Id	Source(s)
COSMIC	TBPL2	COSMIC
Ensembl Genes	ENSG00000182521	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000247219	ENTREZGENE
	ENST00000247219.6	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.310.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000182521	GTEx
HGNC ID	HGNC:19841	ENTREZGENE
Human Proteome Map	TBPL2	Human Proteome Map
InterPro	TBP	UniProtKB/Swiss-Prot
	TBP_CS	UniProtKB/Swiss-Prot
	TBP_dom_sf	UniProtKB/Swiss-Prot
	TBP_eukaryotic	UniProtKB/Swiss-Prot
KEGG Report	hsa:387332	UniProtKB/Swiss-Prot
NCBI Gene	TBPL2	ENTREZGENE
OMIM	608964	OMIM
PANTHER	PTHR10126	UniProtKB/Swiss-Prot
Pfam	TBP	UniProtKB/Swiss-Prot
PharmGKB	PA134990291	PharmGKB
PRINTS	TIFACTORIID	UniProtKB/Swiss-Prot
PROSITE	TFIID	UniProtKB/Swiss-Prot
Superfamily-SCOP	TATA-box binding protein-like	UniProtKB/Swiss-Prot
UniProt	G3V454_HUMAN	UniProtKB/TrEMBL
	Q17RU8	ENTREZGENE
	Q6SJ96	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q17RU8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	TBPL2	TATA-box binding protein like 2		TATA box binding protein like 2	Symbol and/or name change	5135510	APPROVED

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

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Imported Annotations - KEGG (archival)