TBPL2 (TATA-box binding protein like 2)

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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

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,3,7,8-tetrachlorodibenzodioxine (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

GW 4064 (ISO)

methotrexate (ISO)

paracetamol (EXP)

titanium dioxide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

DNA-templated transcription initiation (IBA,IEA)

transcription by RNA polymerase II (IEA)

Cellular Component

cytoplasm (IDA,IEA)

female germ cell nucleus (IEA)

nucleus (IDA,IEA)

Molecular Function

DNA binding (IEA)

protein binding (ISO)

RNA polymerase II general transcription initiation factor activity (IBA)

Molecular Pathway Annotations Click to see Annotation Detail View

Huntington's disease pathway (IEA)

References

References - curated

#	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

Additional References at PubMed

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

Genomics

Comparative Map Data

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

Variants in TBPL2
29 total Variants

Clinical 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.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.953C>T (p.Thr318Ile)	single nucleotide variant	not specified [RCV004474230]	Chr14:55424161 [GRCh38] Chr14:55890879 [GRCh37] Chr14:14q22.3	uncertain significance

miRNA Target Status

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.

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
407271079	GWAS920055_H	body height QTL GWAS920055 (human)		3e-38	body height (VT:0001253)	body height (CMO:0000106)	14	55430780	55430781	Human
406968741	GWAS617717_H	platelet count QTL GWAS617717 (human)		3e-10	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	14	55430820	55430821	Human
406966565	GWAS615541_H	pregnancy disorder QTL GWAS615541 (human)		0.000001	pregnancy disorder		14	55432698	55432699	Human
406971460	GWAS620436_H	femoral neck bone mineral density QTL GWAS620436 (human)		0.0000007	femoral neck bone mineral density	bone mineral density (CMO:0001226)	14	55420985	55420986	Human
407104998	GWAS753974_H	platelet count QTL GWAS753974 (human)		6e-12	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	14	55421495	55421496	Human
406971451	GWAS620427_H	bone mineral content measurement QTL GWAS620427 (human)		0.0000002	bone mineral content measurement		14	55437708	55437709	Human
407020045	GWAS669021_H	bone density QTL GWAS669021 (human)		9e-15	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	14	55438230	55438231	Human

Markers in Region

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

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

Sequence

Nucleotide Sequences


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

ATGGCCTCTGCGCCCTGGCCGGAGCGGGTTCCGAGGCTGCTCGCTCCGCGCTTACCCTCTTACC
CGCCCCCACCCCCAACAGTGGGATTACGGTCCATGGAGCAGGAGGAGACCTACCTGGAGCTCTA
CCTGGACCAGTGCGCCGCTCAGGATGGCCTTGCCCCACCCAGGTCTCCCCTGTTCAGCCCAGTT
GTACCTTATGATATGTACATACTGAATGCATCCAATCCGGATACTGCATTTAATTCGAACCCTG
AAGTCAAAGAAACATCTGGTGATTTCTCATCTGTGGATCTTAGCTTCCTACCAGATGAAGTTAC
CCAGGAAAATAAAGACCAGCCTGTCATTAGCAAACACGAAACTGAAGAAAATTCTGAAAGCCAA
AGTCCACAAAGTAGGTTGCCATCACCCAGCGAACAGGACGTTGGGCTGGGCTTAAACAGCAGCA
GTTTGTCAAATTCCCATTCACAGCTGCACCCTGGTGATACTGACTCAGTCCAGCCCTCTCCTGA
GAAACCAAACTCCGACTCCTTGTCTCTGGCATCCATAACTCCCATGACACCAATGACCCCTATT
TCAGAATGTTGTGGAATTGTACCTCAACTACAGAATATAGTTTCCACTGTAAACCTGGCCTGTA
AGTTGGATCTGAAGAAAATAGCTTTGCATGCAAAAAATGCAGAATATAACCCAAAGAGGTTTGC
TGCTGTCATAATGAGGATCCGAGAGCCCAGGACAACAGCCCTTATATTTAGCTCTGGGAAGATG
GTCTGCACGGGAGCCAAAAGTGAAGAGCAGTCTCGACTTGCAGCAAGAAAATATGCTCGTGTGG
TGCAGAAGCTTGGGTTCCCTGCCAGATTCCTCGATTTTAAAATTCAGAACATGGTTGGAAGCTG
TGATGTGAGATTTCCCATCAGGCTGGAAGGTTTGGTGCTAACCCATCAGCAGTTCAGTAGTTAC
GAGCCTGAACTGTTTCCTGGTCTTATTTATAGAATGGTAAAACCACGAATTGTGTTGCTTATCT
TTGTATCTGGAAAAGTTGTGTTGACAGGTGCCAAAGAACGTTCTGAGATCTATGAAGCATTTGA
AAACATCTATCCTATTCTAAAAGGTTTTAAAAAAGCCTGAGCATATCATTCAGCATCTCACATT
ATTCTGGTTTGAATATGTCCATAAGCCCAGCACAGAAACAGCTGGATTCTTCTACGTTTAATTG
TAGATGTTACAAGTACGTTACTTATTAAAGGGCGACTCTGTGTAAGTAACCTAAGAAACGAAGA
AAAATTCTTATTCAAAAAAAAAAA

hide sequence

Protein Sequences


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
	ENSP00000451597.1
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

MASAPWPERVPRLLAPRLPSYPPPPPTVGLRSMEQEETYLELYLDQCAAQDGLAPPRSPLFSPV
VPYDMYILNASNPDTAFNSNPEVKETSGDFSSVDLSFLPDEVTQENKDQPVISKHETEENSESQ
SPQSRLPSPSEQDVGLGLNSSSLSNSHSQLHPGDTDSVQPSPEKPNSDSLSLASITPMTPMTPI
SECCGIVPQLQNIVSTVNLACKLDLKKIALHAKNAEYNPKRFAAVIMRIREPRTTALIFSSGKM
VCTGAKSEEQSRLAARKYARVVQKLGFPARFLDFKIQNMVGSCDVRFPIRLEGLVLTHQQFSSY
EPELFPGLIYRMVKPRIVLLIFVSGKVVLTGAKERSEIYEAFENIYPILKGFKKA

hide sequence

Ensembl Acc Id:

ENSP00000451597 ⟸ ENST00000556755

Ensembl Acc Id:

ENSP00000247219 ⟸ ENST00000247219

Protein Structures

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

Promoters

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

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:19841	AgrOrtholog
COSMIC	TBPL2	COSMIC
Ensembl Genes	ENSG00000182521	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000247219	ENTREZGENE
	ENST00000247219.6	UniProtKB/Swiss-Prot
	ENST00000556755.1	UniProtKB/TrEMBL
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
	TATA BOX-BINDING PROTEIN-LIKE 2	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) 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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Imported Annotations - KEGG (archival)