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Gene: TLL2 (tolloid like 2) Homo sapiens

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Symbol:

TLL2

Name:

tolloid like 2

RGD ID:

1312462

HGNC Page

HGNC:11844

Description:

Predicted to enable metalloendopeptidase activity. Predicted to be involved in dorsal/ventral pattern formation and protein processing. Predicted to act upstream of or within negative regulation of skeletal muscle tissue growth. Predicted to be located in extracellular region. Predicted to be active in extracellular space.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

KIAA0932; MGC133312; MGC133313; tolloid-like 2; tolloid-like protein 2

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):	Tll2 (tolloid-like 2)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tll2 (tolloid-like 2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tll2 (tolloid like 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TLL2 (tolloid like 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	TLL2 (tolloid like 2)	HGNC	HomoloGene, NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tll2 (tolloid like 2)	NCBI	Ortholog
Sus scrofa (pig):	TLL2 (tolloid like 2)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TLL2 (tolloid like 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tll2 (tolloid like 2)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Tll1 (tolloid-like)	HGNC	OrthoMCL
Mus musculus (house mouse):	Bmp1 (bone morphogenetic protein 1)	HGNC	OrthoMCL
Rattus norvegicus (Norway rat):	Myrip (myosin VIIA and Rab interacting protein)	HGNC	OMA
Alliance orthologs ³
Mus musculus (house mouse):	Tll2 (tolloid-like 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Tll2 (tolloid-like 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	nas-39	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	tok	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	tll2l	Alliance	DIOPT (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	10	96,364,608 - 96,513,926 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	96,364,608 - 96,513,926 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	98,124,365 - 98,273,683 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	98,114,356 - 98,263,658 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	98,114,355 - 98,263,658	NCBI
Celera	10	91,865,556 - 92,016,000 (-)	NCBI		Celera
Cytogenetic Map	10	q24.1	NCBI
HuRef	10	91,752,292 - 91,903,132 (-)	NCBI		HuRef
CHM1_1	10	98,406,253 - 98,555,491 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	10	97,243,944 - 97,395,061 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

spinal muscular atrophy (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (EXP)

17beta-estradiol (EXP)

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

2,4-dibromophenyl 2,4,5-tribromophenyl ether (EXP)

4,4'-sulfonyldiphenol (EXP)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

all-trans-retinoic acid (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

cadmium dichloride (ISO)

copper atom (ISO)

copper(0) (ISO)

diarsenic trioxide (EXP)

dorsomorphin (EXP)

endosulfan (EXP)

entinostat (EXP)

genistein (EXP)

gentamycin (ISO)

glyphosate (ISO)

methotrexate (ISO)

methylmercury chloride (EXP)

mono(2-ethylhexyl) phthalate (ISO)

okadaic acid (EXP)

paracetamol (EXP,ISO)

phenylmercury acetate (EXP)

progesterone (EXP)

SB 431542 (EXP)

sodium arsenite (ISO)

Theaflavin 3,3'-digallate (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

triptonide (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

vinclozolin (ISO)

zinc sulfate (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IEA)

collagen fibril organization (TAS)

dorsal/ventral pattern formation (IBA)

negative regulation of skeletal muscle tissue growth (IEA)

protein processing (IBA)

proteolysis (IEA)

Cellular Component

extracellular region (IEA,TAS)

extracellular space (IBA)

Molecular Function

calcium ion binding (IEA)

hydrolase activity (IEA)

metal ion binding (IEA)

metalloendopeptidase activity (IBA,IEA)

metallopeptidase activity (IEA)

peptidase activity (IEA)

serine-type endopeptidase activity (TAS)

zinc ion binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Spinal muscular atrophy (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10231032	PMID:10479448	PMID:10516436	PMID:10806368	PMID:11076863	PMID:11313359	PMID:12477932	PMID:15164054	PMID:15489334	PMID:16344560	PMID:16385451	PMID:18824173
PMID:18839057	PMID:21873635	PMID:23777486	PMID:28514442	PMID:28796414	PMID:29987050	PMID:31888525	PMID:33961781	PMID:34315543	PMID:39358380

Genomics

Comparative Map Data

TLL2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	96,364,608 - 96,513,926 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	96,364,608 - 96,513,926 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	98,124,365 - 98,273,683 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	98,114,356 - 98,263,658 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	98,114,355 - 98,263,658	NCBI
Celera	10	91,865,556 - 92,016,000 (-)	NCBI		Celera
Cytogenetic Map	10	q24.1	NCBI
HuRef	10	91,752,292 - 91,903,132 (-)	NCBI		HuRef
CHM1_1	10	98,406,253 - 98,555,491 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	10	97,243,944 - 97,395,061 (-)	NCBI		T2T-CHM13v2.0

Tll2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	41,069,379 - 41,199,287 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	41,071,192 - 41,195,274 (-)	Ensembl		GRCm39 Ensembl
GRCm38	19	41,080,940 - 41,210,848 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	41,082,753 - 41,206,835 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	41,158,471 - 41,281,264 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	41,136,064 - 41,260,146 (-)	NCBI		MGSCv36	mm8
Celera	19	41,887,611 - 42,010,945 (-)	NCBI		Celera
Cytogenetic Map	19	C3	NCBI
cM Map	19	34.39	NCBI

Tll2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	249,862,050 - 249,977,566 (-)	NCBI		GRCr8
mRatBN7.2	1	239,912,648 - 240,028,168 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	239,915,508 - 240,028,120 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	248,058,900 - 248,171,203 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	254,756,003 - 254,868,308 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	247,409,021 - 247,521,330 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	260,348,905 - 260,460,791 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	260,348,905 - 260,460,791 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	267,791,567 - 267,916,973 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	246,259,524 - 246,406,825 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	235,758,120 - 235,869,863 (-)	NCBI		Celera
Cytogenetic Map	1	q54	NCBI

Tll2
(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_004955507	2,591,608 - 2,718,440 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955507	2,591,619 - 2,718,161 (-)	NCBI	ChiLan1.0	ChiLan1.0

TLL2
(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	8	108,271,395 - 108,422,418 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	108,276,714 - 108,427,737 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	92,978,334 - 93,129,098 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	96,483,401 - 96,633,281 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	96,483,401 - 96,633,281 (-)	Ensembl	panpan1.1		panPan2

TLL2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	28	9,775,881 - 9,898,246 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	28	9,778,886 - 9,898,644 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	28	9,962,253 - 10,082,185 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	28	10,049,385 - 10,169,679 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	28	10,048,907 - 10,170,179 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	28	9,762,379 - 9,884,351 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	28	9,823,582 - 9,944,187 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	28	9,961,039 - 10,081,143 (-)	NCBI		UU_Cfam_GSD_1.0

Tll2
(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_024407213	36,971,644 - 37,089,693 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936636	3,011,007 - 3,125,714 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936636	3,010,774 - 3,126,402 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TLL2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	107,812,945 - 107,961,155 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	107,812,938 - 107,961,192 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	117,452,932 - 117,598,333 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TLL2
(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	9	89,521,609 - 89,669,630 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666048	50,407,386 - 50,562,782 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tll2
(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_004624737	7,808,301 - 7,933,054 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624737	7,805,165 - 7,933,254 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TLL2
117 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	copy number gain	See cases [RCV000050747]	Chr10:95112607..116776637 [GRCh38] Chr10:96872364..118383651 [GRCh37] Chr10:96862354..118526138 [NCBI36] Chr10:10q23.33-25.3	pathogenic
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	copy number loss	See cases [RCV000052564]	Chr10:92626680..97755102 [GRCh38] Chr10:94386437..99514859 [GRCh37] Chr10:94376417..99504849 [NCBI36] Chr10:10q23.33-24.2	pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	copy number loss	See cases [RCV000052565]	Chr10:93181201..101356779 [GRCh38] Chr10:94940958..103116536 [GRCh37] Chr10:94930948..103106526 [NCBI36] Chr10:10q23.33-24.32	pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]\|See cases [RCV000053560]	Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3	pathogenic
NM_012465.3(TLL2):c.693G>A (p.Gly231=)	single nucleotide variant	Malignant melanoma [RCV000069114]	Chr10:96422673 [GRCh38] Chr10:98182430 [GRCh37] Chr10:98172420 [NCBI36] Chr10:10q24.1	not provided
NM_012465.3(TLL2):c.1260C>T (p.Pro420=)	single nucleotide variant	Malignant melanoma [RCV000062107]	Chr10:96405239 [GRCh38] Chr10:98164996 [GRCh37] Chr10:98154986 [NCBI36] Chr10:10q24.1	not provided
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1	copy number loss	See cases [RCV000447362]	Chr10:92667881..98970384 [GRCh37] Chr10:10q23.31-24.1	pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909]	Chr10:85557432..105804295 [GRCh37] Chr10:10q23.1-25.1	pathogenic\|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	copy number gain	See cases [RCV000448750]	Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	copy number gain	See cases [RCV000511389]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic\|uncertain significance
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	copy number gain	See cases [RCV000510972]	Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	copy number gain	See cases [RCV000510861]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_012465.4(TLL2):c.2587G>A (p.Gly863Ser)	single nucleotide variant	not specified [RCV004294174]	Chr10:96373671 [GRCh38] Chr10:98133428 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1015A>G (p.Ile339Val)	single nucleotide variant	not specified [RCV004314274]	Chr10:96413225 [GRCh38] Chr10:98172982 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1543G>A (p.Asp515Asn)	single nucleotide variant	not specified [RCV004289170]	Chr10:96395370 [GRCh38] Chr10:98155127 [GRCh37] Chr10:10q24.1	uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438]	Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3	drug response
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	copy number loss	See cases [RCV000512315]	Chr10:93908171..101809723 [GRCh37] Chr10:10q23.32-24.2	pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	copy number gain	not provided [RCV000683291]	Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3	copy number gain	not provided [RCV000749465]	Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3	copy number gain	not provided [RCV000749464]	Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_012465.4(TLL2):c.1622A>G (p.Tyr541Cys)	single nucleotide variant	not specified [RCV004295378]	Chr10:96395291 [GRCh38] Chr10:98155048 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1096G>C (p.Gly366Arg)	single nucleotide variant	not provided [RCV000970864]	Chr10:96410427 [GRCh38] Chr10:98170184 [GRCh37] Chr10:10q24.1	benign
NM_012465.4(TLL2):c.2047G>A (p.Gly683Ser)	single nucleotide variant	not provided [RCV000965813]	Chr10:96384734 [GRCh38] Chr10:98144491 [GRCh37] Chr10:10q24.1	benign
NM_012465.4(TLL2):c.2736C>T (p.Asn912=)	single nucleotide variant	not provided [RCV000886962]	Chr10:96370242 [GRCh38] Chr10:98129999 [GRCh37] Chr10:10q24.1	benign
NM_012465.4(TLL2):c.112G>C (p.Glu38Gln)	single nucleotide variant	Spinal muscular atrophy [RCV000859977]	Chr10:96513574 [GRCh38] Chr10:98273331 [GRCh37] Chr10:10q24.1	uncertain significance
GRCh37/hg19 10q24.1(chr10:98225031-98337963)x3	copy number gain	not provided [RCV000846954]	Chr10:98225031..98337963 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2920G>A (p.Glu974Lys)	single nucleotide variant	not specified [RCV004319048]	Chr10:96368216 [GRCh38] Chr10:98127973 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1485G>A (p.Thr495=)	single nucleotide variant	not provided [RCV000963257]	Chr10:96395920 [GRCh38] Chr10:98155677 [GRCh37] Chr10:10q24.1	benign
NM_012465.4(TLL2):c.2253C>G (p.Phe751Leu)	single nucleotide variant	not provided [RCV000959119]	Chr10:96379034 [GRCh38] Chr10:98138791 [GRCh37] Chr10:10q24.1	benign
NM_012465.4(TLL2):c.1337G>A (p.Arg446His)	single nucleotide variant	not provided [RCV000953304]	Chr10:96397233 [GRCh38] Chr10:98156990 [GRCh37] Chr10:10q24.1	benign
NM_012465.4(TLL2):c.1609C>T (p.His537Tyr)	single nucleotide variant	Spinal muscular atrophy [RCV000859978]	Chr10:96395304 [GRCh38] Chr10:98155061 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.923+1G>T	single nucleotide variant	sellar metastasis from primary bronchial carcinoid tumor [RCV001251071]	Chr10:96420955 [GRCh38] Chr10:98180712 [GRCh37] Chr10:10q24.1	uncertain significance
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	copy number loss	not specified [RCV002052882]	Chr10:92667881..98970384 [GRCh37] Chr10:10q23.31-24.1	pathogenic
NM_012465.4(TLL2):c.2962C>T (p.Arg988Cys)	single nucleotide variant	not specified [RCV004216367]	Chr10:96368174 [GRCh38] Chr10:98127931 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2281G>A (p.Gly761Ser)	single nucleotide variant	not specified [RCV004166821]	Chr10:96379006 [GRCh38] Chr10:98138763 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2933C>T (p.Ser978Phe)	single nucleotide variant	not specified [RCV004152859]	Chr10:96368203 [GRCh38] Chr10:98127960 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.401G>A (p.Gly134Glu)	single nucleotide variant	not specified [RCV004147870]	Chr10:96432926 [GRCh38] Chr10:98192683 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2554G>A (p.Gly852Ser)	single nucleotide variant	not specified [RCV004107486]	Chr10:96373704 [GRCh38] Chr10:98133461 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2525G>A (p.Ser842Asn)	single nucleotide variant	not specified [RCV004200180]	Chr10:96373733 [GRCh38] Chr10:98133490 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2645A>G (p.Gln882Arg)	single nucleotide variant	not specified [RCV004088375]	Chr10:96373613 [GRCh38] Chr10:98133370 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.813G>C (p.Gln271His)	single nucleotide variant	not specified [RCV004116768]	Chr10:96422553 [GRCh38] Chr10:98182310 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1684G>A (p.Gly562Ser)	single nucleotide variant	not specified [RCV004159951]	Chr10:96395229 [GRCh38] Chr10:98154986 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.473T>C (p.Ile158Thr)	single nucleotide variant	not specified [RCV004218097]	Chr10:96432854 [GRCh38] Chr10:98192611 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.875C>T (p.Thr292Ile)	single nucleotide variant	not specified [RCV004203374]	Chr10:96421004 [GRCh38] Chr10:98180761 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2209G>A (p.Ala737Thr)	single nucleotide variant	not provided [RCV004695482]\|not specified [RCV004132995]	Chr10:96379078 [GRCh38] Chr10:98138835 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1076C>T (p.Thr359Met)	single nucleotide variant	not specified [RCV004079586]	Chr10:96410447 [GRCh38] Chr10:98170204 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.991C>T (p.Arg331Cys)	single nucleotide variant	not specified [RCV004229057]	Chr10:96413249 [GRCh38] Chr10:98173006 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1292C>T (p.Pro431Leu)	single nucleotide variant	not specified [RCV004198339]	Chr10:96397278 [GRCh38] Chr10:98157035 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2108T>G (p.Ile703Ser)	single nucleotide variant	not specified [RCV004204517]	Chr10:96384673 [GRCh38] Chr10:98144430 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2221G>A (p.Gly741Ser)	single nucleotide variant	not specified [RCV004239528]	Chr10:96379066 [GRCh38] Chr10:98138823 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2271G>C (p.Arg757Ser)	single nucleotide variant	not specified [RCV004155061]	Chr10:96379016 [GRCh38] Chr10:98138773 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2963G>A (p.Arg988His)	single nucleotide variant	not specified [RCV004215604]	Chr10:96368173 [GRCh38] Chr10:98127930 [GRCh37] Chr10:10q24.1	likely benign
NM_012465.4(TLL2):c.428T>A (p.Phe143Tyr)	single nucleotide variant	not specified [RCV004109457]	Chr10:96432899 [GRCh38] Chr10:98192656 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1310C>T (p.Thr437Met)	single nucleotide variant	not specified [RCV004224944]	Chr10:96397260 [GRCh38] Chr10:98157017 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2740C>T (p.Pro914Ser)	single nucleotide variant	not specified [RCV004194210]	Chr10:96370238 [GRCh38] Chr10:98129995 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.176C>G (p.Ala59Gly)	single nucleotide variant	not specified [RCV004138648]	Chr10:96480459 [GRCh38] Chr10:98240216 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1836T>A (p.Asp612Glu)	single nucleotide variant	not specified [RCV004097840]	Chr10:96386969 [GRCh38] Chr10:98146726 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2519C>T (p.Pro840Leu)	single nucleotide variant	not specified [RCV004084558]	Chr10:96373739 [GRCh38] Chr10:98133496 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.260C>A (p.Thr87Lys)	single nucleotide variant	not specified [RCV004218204]	Chr10:96480375 [GRCh38] Chr10:98240132 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.436C>T (p.Arg146Trp)	single nucleotide variant	not specified [RCV004250412]	Chr10:96432891 [GRCh38] Chr10:98192648 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.897G>C (p.Met299Ile)	single nucleotide variant	not specified [RCV004322661]	Chr10:96420982 [GRCh38] Chr10:98180739 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2120G>A (p.Ser707Asn)	single nucleotide variant	not specified [RCV004267427]	Chr10:96384661 [GRCh38] Chr10:98144418 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.85C>G (p.Arg29Gly)	single nucleotide variant	not specified [RCV004283039]	Chr10:96513601 [GRCh38] Chr10:98273358 [GRCh37] Chr10:10q24.1	uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	copy number gain	Distal trisomy 10q [RCV003319593]	Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3	pathogenic
NM_012465.4(TLL2):c.2086G>T (p.Gly696Cys)	single nucleotide variant	not specified [RCV004297472]	Chr10:96384695 [GRCh38] Chr10:98144452 [GRCh37] Chr10:10q24.1	uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	copy number loss	Distal 10q deletion syndrome [RCV003319583]	Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3	pathogenic
NM_012465.4(TLL2):c.623G>T (p.Ser208Ile)	single nucleotide variant	not specified [RCV004340779]	Chr10:96428646 [GRCh38] Chr10:98188403 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.843G>A (p.Met281Ile)	single nucleotide variant	not specified [RCV004348007]	Chr10:96421036 [GRCh38] Chr10:98180793 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2893G>T (p.Gly965Cys)	single nucleotide variant	not specified [RCV004355620]	Chr10:96370085 [GRCh38] Chr10:98129842 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2138A>G (p.Glu713Gly)	single nucleotide variant	not specified [RCV004339477]	Chr10:96384643 [GRCh38] Chr10:98144400 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.767G>A (p.Arg256Gln)	single nucleotide variant	not specified [RCV004345871]	Chr10:96422599 [GRCh38] Chr10:98182356 [GRCh37] Chr10:10q24.1	uncertain significance
GRCh37/hg19 10q24.1(chr10:98122334-98184244)x1	copy number loss	not provided [RCV003483104]	Chr10:98122334..98184244 [GRCh37] Chr10:10q24.1	uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	copy number gain	not provided [RCV003484798]	Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2	pathogenic
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	copy number loss	not specified [RCV003986912]	Chr10:94283369..101820913 [GRCh37] Chr10:10q23.33-24.2	pathogenic
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	copy number loss	not specified [RCV003986861]	Chr10:90796994..100067505 [GRCh37] Chr10:10q23.31-24.2	pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	copy number gain	not specified [RCV003986893]	Chr10:95078198..135427143 [GRCh37] Chr10:10q23.33-26.3	pathogenic
NM_012465.4(TLL2):c.1772G>A (p.Arg591His)	single nucleotide variant	not specified [RCV004470183]	Chr10:96387033 [GRCh38] Chr10:98146790 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2134G>A (p.Val712Met)	single nucleotide variant	not specified [RCV004470190]	Chr10:96384647 [GRCh38] Chr10:98144404 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2362G>A (p.Ala788Thr)	single nucleotide variant	not specified [RCV004470195]	Chr10:96376778 [GRCh38] Chr10:98136535 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.269C>G (p.Ala90Gly)	single nucleotide variant	not specified [RCV004470200]	Chr10:96480366 [GRCh38] Chr10:98240123 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2723T>C (p.Phe908Ser)	single nucleotide variant	not specified [RCV004470202]	Chr10:96370255 [GRCh38] Chr10:98130012 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2272T>C (p.Cys758Arg)	single nucleotide variant	not specified [RCV004470193]	Chr10:96379015 [GRCh38] Chr10:98138772 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1817G>A (p.Gly606Asp)	single nucleotide variant	not specified [RCV004470185]	Chr10:96386988 [GRCh38] Chr10:98146745 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2101G>A (p.Glu701Lys)	single nucleotide variant	not specified [RCV004470188]	Chr10:96384680 [GRCh38] Chr10:98144437 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2576C>T (p.Thr859Met)	single nucleotide variant	not specified [RCV004470197]	Chr10:96373682 [GRCh38] Chr10:98133439 [GRCh37] Chr10:10q24.1	likely benign
NM_012465.4(TLL2):c.1960G>A (p.Ala654Thr)	single nucleotide variant	not specified [RCV004470186]	Chr10:96386108 [GRCh38] Chr10:98145865 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1970G>A (p.Arg657Gln)	single nucleotide variant	not specified [RCV004470187]	Chr10:96386098 [GRCh38] Chr10:98145855 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2170G>A (p.Gly724Ser)	single nucleotide variant	not specified [RCV004470191]	Chr10:96384611 [GRCh38] Chr10:98144368 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2512G>A (p.Asp838Asn)	single nucleotide variant	not specified [RCV004470196]	Chr10:96373746 [GRCh38] Chr10:98133503 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2630A>G (p.Gln877Arg)	single nucleotide variant	not specified [RCV004470198]	Chr10:96373628 [GRCh38] Chr10:98133385 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2125A>T (p.Asn709Tyr)	single nucleotide variant	not specified [RCV004470189]	Chr10:96384656 [GRCh38] Chr10:98144413 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.596C>T (p.Thr199Met)	single nucleotide variant	not specified [RCV004470204]	Chr10:96428673 [GRCh38] Chr10:98188430 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1630C>G (p.Pro544Ala)	single nucleotide variant	not specified [RCV004470181]	Chr10:96395283 [GRCh38] Chr10:98155040 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1793G>A (p.Ser598Asn)	single nucleotide variant	not specified [RCV004470184]	Chr10:96387012 [GRCh38] Chr10:98146769 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2260T>C (p.Tyr754His)	single nucleotide variant	not specified [RCV004470192]	Chr10:96379027 [GRCh38] Chr10:98138784 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2360T>G (p.Leu787Arg)	single nucleotide variant	not specified [RCV004470194]	Chr10:96376780 [GRCh38] Chr10:98136537 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2668G>T (p.Gly890Trp)	single nucleotide variant	not specified [RCV004470199]	Chr10:96370310 [GRCh38] Chr10:98130067 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2720A>G (p.Gln907Arg)	single nucleotide variant	not specified [RCV004470201]	Chr10:96370258 [GRCh38] Chr10:98130015 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.3001C>G (p.Arg1001Gly)	single nucleotide variant	not specified [RCV004470203]	Chr10:96368135 [GRCh38] Chr10:98127892 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.659G>A (p.Arg220His)	single nucleotide variant	not specified [RCV004470205]	Chr10:96422707 [GRCh38] Chr10:98182464 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.952C>T (p.Arg318Cys)	single nucleotide variant	not specified [RCV004470206]	Chr10:96413288 [GRCh38] Chr10:98173045 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.970G>A (p.Val324Ile)	single nucleotide variant	not specified [RCV004470207]	Chr10:96413270 [GRCh38] Chr10:98173027 [GRCh37] Chr10:10q24.1	likely benign
NM_012465.4(TLL2):c.2396G>A (p.Arg799Gln)	single nucleotide variant	not specified [RCV004686835]	Chr10:96376744 [GRCh38] Chr10:98136501 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2906G>A (p.Gly969Asp)	single nucleotide variant	not specified [RCV004686837]	Chr10:96370072 [GRCh38] Chr10:98129829 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.144G>C (p.Gln48His)	single nucleotide variant	not specified [RCV004677106]	Chr10:96513542 [GRCh38] Chr10:98273299 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1393G>C (p.Gly465Arg)	single nucleotide variant	not specified [RCV004686834]	Chr10:96396012 [GRCh38] Chr10:98155769 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2478C>G (p.His826Gln)	single nucleotide variant	not specified [RCV004677100]	Chr10:96373780 [GRCh38] Chr10:98133537 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1127A>T (p.His376Leu)	single nucleotide variant	not specified [RCV004677101]	Chr10:96410396 [GRCh38] Chr10:98170153 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1318C>T (p.Arg440Trp)	single nucleotide variant	not specified [RCV004677102]	Chr10:96397252 [GRCh38] Chr10:98157009 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.503T>C (p.Ile168Thr)	single nucleotide variant	not specified [RCV004677103]	Chr10:96432824 [GRCh38] Chr10:98192581 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.500T>A (p.Val167Asp)	single nucleotide variant	not specified [RCV004677104]	Chr10:96432827 [GRCh38] Chr10:98192584 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1422G>T (p.Gln474His)	single nucleotide variant	not specified [RCV004677105]	Chr10:96395983 [GRCh38] Chr10:98155740 [GRCh37] Chr10:10q24.1	uncertain significance
GRCh37/hg19 10q23.2-24.31(chr10:88755921-102461203)x1	copy number loss	not provided [RCV004819364]	Chr10:88755921..102461203 [GRCh37] Chr10:10q23.2-24.31	pathogenic
NM_012465.4(TLL2):c.2191T>G (p.Ser731Ala)	single nucleotide variant	not specified [RCV004872451]	Chr10:96384590 [GRCh38] Chr10:98144347 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1028G>A (p.Arg343Gln)	single nucleotide variant	not specified [RCV004872452]	Chr10:96413212 [GRCh38] Chr10:98172969 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.914C>G (p.Thr305Ser)	single nucleotide variant	not specified [RCV004872453]	Chr10:96420965 [GRCh38] Chr10:98180722 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1270A>G (p.Arg424Gly)	single nucleotide variant	not specified [RCV004872454]	Chr10:96397300 [GRCh38] Chr10:98157057 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2059G>A (p.Asp687Asn)	single nucleotide variant	not specified [RCV004872455]	Chr10:96384722 [GRCh38] Chr10:98144479 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2708A>G (p.Tyr903Cys)	single nucleotide variant	not specified [RCV004872461]	Chr10:96370270 [GRCh38] Chr10:98130027 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.157C>T (p.His53Tyr)	single nucleotide variant	not specified [RCV004872462]	Chr10:96513529 [GRCh38] Chr10:98273286 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1442C>T (p.Pro481Leu)	single nucleotide variant	not specified [RCV004872456]	Chr10:96395963 [GRCh38] Chr10:98155720 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2242G>C (p.Val748Leu)	single nucleotide variant	not specified [RCV004872457]	Chr10:96379045 [GRCh38] Chr10:98138802 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.31G>A (p.Val11Met)	single nucleotide variant	not specified [RCV004872458]	Chr10:96513655 [GRCh38] Chr10:98273412 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.278A>C (p.His93Pro)	single nucleotide variant	not specified [RCV004872459]	Chr10:96480357 [GRCh38] Chr10:98240114 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1573C>T (p.Arg525Trp)	single nucleotide variant	not specified [RCV004872449]	Chr10:96395340 [GRCh38] Chr10:98155097 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2132G>A (p.Arg711His)	single nucleotide variant	not specified [RCV004872450]	Chr10:96384649 [GRCh38] Chr10:98144406 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.925G>A (p.Gly309Arg)	single nucleotide variant	not specified [RCV004872460]	Chr10:96413315 [GRCh38] Chr10:98173072 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1541A>G (p.His514Arg)	single nucleotide variant	not specified [RCV004872463]	Chr10:96395372 [GRCh38] Chr10:98155129 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.2741C>T (p.Pro914Leu)	single nucleotide variant	not specified [RCV004872441]	Chr10:96370237 [GRCh38] Chr10:98129994 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1406A>G (p.Asn469Ser)	single nucleotide variant	not specified [RCV004872442]	Chr10:96395999 [GRCh38] Chr10:98155756 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1417G>A (p.Gly473Ser)	single nucleotide variant	not specified [RCV004872443]	Chr10:96395988 [GRCh38] Chr10:98155745 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.437G>A (p.Arg146Gln)	single nucleotide variant	not specified [RCV004872444]	Chr10:96432890 [GRCh38] Chr10:98192647 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.16G>A (p.Ala6Thr)	single nucleotide variant	not specified [RCV004872445]	Chr10:96513670 [GRCh38] Chr10:98273427 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.499G>A (p.Val167Ile)	single nucleotide variant	not specified [RCV004872446]	Chr10:96432828 [GRCh38] Chr10:98192585 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1787T>A (p.Leu596Gln)	single nucleotide variant	not specified [RCV004872447]	Chr10:96387018 [GRCh38] Chr10:98146775 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.1864G>A (p.Gly622Ser)	single nucleotide variant	not specified [RCV004872448]	Chr10:96386204 [GRCh38] Chr10:98145961 [GRCh37] Chr10:10q24.1	uncertain significance
NM_012465.4(TLL2):c.478C>A (p.Pro160Thr)	single nucleotide variant	not specified [RCV004878099]	Chr10:96432849 [GRCh38] Chr10:98192606 [GRCh37] Chr10:10q24.1	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	1875
Count of miRNA genes:	997
Interacting mature miRNAs:	1217
Transcripts:	ENST00000357947, ENST00000469598, ENST00000506028
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.

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
597057254	GWAS1153328_H	adolescent idiopathic scoliosis QTL GWAS1153328 (human)		2e-32	adolescent idiopathic scoliosis		10	96499114	96499115	Human
597280776	GWAS1376850_H	Takayasu arteritis QTL GWAS1376850 (human)		0.0000001	Takayasu arteritis		10	96397528	96397529	Human
407024817	GWAS673793_H	attention deficit hyperactivity disorder QTL GWAS673793 (human)		0.000002	attention deficit hyperactivity disorder		10	96375748	96375749	Human
2314551	GLUCO52_H	Glucose level QTL 52 (human)	1.4		Glucose level		10	77605006	103605006	Human
596974033	GWAS1093552_H	neuroticism measurement, major depressive disorder QTL GWAS1093552 (human)		0.000006	neuroticism measurement, major depressive disorder		10	96376493	96376494	Human
597275695	GWAS1371769_H	insomnia QTL GWAS1371769 (human)		1e-08	insomnia		10	96496194	96496195	Human
597334989	GWAS1431063_H	educational attainment QTL GWAS1431063 (human)		8e-10	educational attainment		10	96490434	96490435	Human
407080267	GWAS729243_H	unipolar depression, neuroticism measurement QTL GWAS729243 (human)		0.000006	unipolar depression, neuroticism measurement		10	96376493	96376494	Human
597161134	GWAS1257208_H	gut microbiome measurement QTL GWAS1257208 (human)		7e-09	gut microbiome measurement		10	96390553	96390554	Human
597081496	GWAS1177570_H	gut microbiome measurement QTL GWAS1177570 (human)		0.0000002	gut microbiome measurement		10	96468674	96468675	Human

Markers in Region

G59526

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	98,240,318 - 98,240,512	UniSTS	GRCh37
Build 36	10	98,230,308 - 98,230,502	RGD	NCBI36
Celera	10	91,982,639 - 91,982,833	RGD
Cytogenetic Map	10	q23-q24	UniSTS
HuRef	10	91,869,766 - 91,869,960	UniSTS
TNG Radiation Hybrid Map	10	46433.0	UniSTS

G62504

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	98,188,063 - 98,188,393	UniSTS	GRCh37
Build 36	10	98,178,053 - 98,178,383	RGD	NCBI36
Celera	10	91,929,224 - 91,929,554	RGD
Cytogenetic Map	10	q23-q24	UniSTS
HuRef	10	91,816,376 - 91,816,706	UniSTS
TNG Radiation Hybrid Map	10	46449.0	UniSTS

SHGC-148720

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	98,255,025 - 98,255,336	UniSTS	GRCh37
Build 36	10	98,245,015 - 98,245,326	RGD	NCBI36
Celera	10	91,997,346 - 91,997,657	RGD
Cytogenetic Map	10	q23-q24	UniSTS
HuRef	10	91,884,468 - 91,884,779	UniSTS
TNG Radiation Hybrid Map	10	46488.0	UniSTS

D10S1257

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	98,240,314 - 98,240,571	UniSTS	GRCh37
Build 36	10	98,230,304 - 98,230,561	RGD	NCBI36
Celera	10	91,982,635 - 91,982,892	RGD
Cytogenetic Map	10	q23-q24	UniSTS
HuRef	10	91,869,762 - 91,870,019	UniSTS
Whitehead-RH Map	10	545.7	UniSTS
Whitehead-YAC Contig Map	10		UniSTS
NCBI RH Map	10	1060.1	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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1163	2427	2752	2218	4943	1571	2180	5	478	1720	320	2225	6856	6153	50	3732	1	828	1734	1591	173	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_012465	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB023149	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF059516	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL138765	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL391136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW452288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC030548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC112341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC112366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC113577	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471066	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA716349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000357947 ⟹ ENSP00000350630

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	96,364,608 - 96,513,926 (-)	Ensembl

Ensembl Acc Id:

ENST00000469598

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	96,395,193 - 96,513,918 (-)	Ensembl

Ensembl Acc Id:

ENST00000506028

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	96,373,113 - 96,375,361 (-)	Ensembl

RefSeq Acc Id:

NM_012465 ⟹ NP_036597

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	96,364,608 - 96,513,926 (-)	NCBI
GRCh37	10	98,124,363 - 98,273,683 (-)	RGD
Build 36	10	98,114,356 - 98,263,658 (-)	NCBI Archive
Celera	10	91,865,556 - 92,016,000 (-)	RGD
HuRef	10	91,752,292 - 91,903,132 (-)	ENTREZGENE
CHM1_1	10	98,406,253 - 98,555,491 (-)	NCBI
T2T-CHM13v2.0	10	97,243,944 - 97,395,061 (-)	NCBI

Sequence:

show sequence

ACACTCGCAGCCGCCGCAGCCTCGGCCGCCGGGCAAGTAGCTCCGAGCGGCTGCTTCCCGGTTG
CCTCGACGAAGACAGGGGGCGCCGCGCTCCGCTTGCTCCGCGCCTGAGCCATGCCCAGCAGCCC
TGTGTAACCACCGAGTCCCGGCCGGAGCCGACCGACCCAGTGTGCGCCGTCTTTCGGCCGAGCT
GAGCTTTCGTGCACGCAACTCCCTCTGCCCCAGCCGGCCCCGCGCCACCATGCCCCGGGCGACT
GCACTTGGGGCCCTGGTGTCACTGCTGCTGCTGCTGCCGCTGCCTCGCGGCGCCGGGGGACTCG
GGGAGCGCCCGGACGCCACCGCAGACTACTCAGAGCTGGACGGCGAGGAGGGCACGGAGCAGCA
GCTGGAGCATTACCACGACCCTTGCAAAGCCGCTGTCTTTTGGGGAGACATTGCCTTAGATGAA
GATGACTTGAAGCTGTTTCACATTGACAAAGCCAGAGACTGGACCAAGCAGACAGTGGGGGCAA
CAGGACACAGCACAGGTGGGCTTGAAGAGCAGGCATCTGAGAGCAGCCCAGACACCACAGCCAT
GGACACTGGCACCAAGGAAGCTGGAAAGGATGGCCGGGAGAATACCACACTCCTGCACAGCCCT
GGGACCTTGCATGCCGCAGCCAAGACCTTCTCTCCCCGGGTCCGAAGAGCCACAACCTCAAGGA
CAGAGAGGATATGGCCTGGAGGAGTCATCCCCTACGTCATTGGAGGGAACTTCACTGGGAGCCA
GAGGGCCATTTTTAAGCAGGCCATGAGACACTGGGAGAAGCACACCTGTGTGACCTTCATAGAA
AGGACGGATGAGGAAAGCTTTATTGTATTCAGTTACAGAACCTGTGGCTGTTGCTCCTATGTTG
GGCGCCGAGGAGGAGGCCCACAGGCCATATCCATTGGGAAGAACTGTGACAAGTTTGGCATTGT
GGCTCACGAGCTGGGCCATGTGGTTGGGTTTTGGCATGAACACACCCGGCCAGACAGAGACCAA
CATGTCACCATCATCAGGGAAAACATCCAGCCAGGTCAGGAGTATAATTTCTTAAAAATGGAAG
CTGGGGAAGTGAGCTCTCTGGGAGAGACATACGACTTTGACAGCATCATGCACTACGCCCGGAA
CACCTTCTCAAGAGGAGTTTTCTTAGACACCATCCTTCCCCGTCAAGATGACAATGGCGTCAGG
CCAACCATTGGCCAGCGCGTGCGGCTCAGTCAGGGAGACATAGCTCAAGCCCGGAAGCTGTACA
AATGCCCAGCGTGTGGGGAGACCCTGCAGGACACAACGGGAAACTTTTCTGCACCTGGTTTCCC
AAATGGGTACCCATCTTACTCCCACTGCGTCTGGAGGATCTCGGTCACCCCAGGGGAAAAGATC
GTATTAAACTTCACATCCATGGATTTGTTTAAAAGCCGACTGTGCTGGTATGATTACGTGGAGG
TCCGGGATGGTTACTGGAGAAAAGCCCCCCTTTTGGGCAGGTTTTGTGGCGATAAGATCCCGGA
GCCCCTCGTCTCCACGGACAGCCGGCTCTGGGTGGAGTTCCGCAGCAGCAGCAACATCTTGGGC
AAGGGCTTCTTTGCAGCGTACGAAGCTACCTGCGGGGGAGACATGAACAAAGATGCCGGTCAGA
TTCAATCTCCCAACTATCCGGATGACTACAGACCTTCCAAGGAATGTGTCTGGAGGATTACGGT
TTCAGAGGGGTTTCACGTGGGACTTACCTTCCAAGCTTTTGAGATTGAAAGGCACGACAGCTGT
GCATATGACTACCTGGAAGTCCGGGATGGCCCCACGGAAGAGAGTGCCCTGATCGGCCACTTTT
GTGGCTATGAGAAGCCGGAGGATGTGAAATCGAGCTCCAACAGACTGTGGATGAAGTTTGTGTC
CGATGGCTCTATCAATAAAGCGGGCTTTGCAGCCAATTTTTTCAAGGAGGTGGATGAGTGTTCC
TGGCCAGATCACGGCGGGTGCGAGCATCGCTGTGTGAACACGCTGGGCAGCTACAAGTGTGCCT
GTGACCCTGGCTACGAGCTGGCCGCCGATAAGAAGATGTGTGAAGTGGCCTGTGGCGGTTTCAT
TACCAAGCTGAATGGAACCATCACCAGCCCTGGGTGGCCGAAGGAGTATCCCACAAACAAAAAC
TGTGTCTGGCAGGTGGTGGCCCCCGCTCAGTACCGGATCTCCCTTCAGTTTGAAGTGTTTGAAC
TGGAAGGCAATGACGTCTGTAAGTACGACTTTGTAGAGGTGCGCAGCGGCCTGTCCCCCGACGC
CAAGCTGCACGGCAGGTTCTGCGGCTCTGAGACGCCGGAGGTCATCACCTCGCAGAGCAACAAC
ATGCGCGTGGAGTTCAAGTCCGACAACACCGTCTCCAAGCGCGGCTTCAGGGCCCACTTCTTCT
CAGATAAGGACGAGTGTGCCAAGGACAACGGCGGGTGTCAGCATGAGTGCGTCAACACCTTCGG
GAGCTACCTGTGCAGGTGCAGAAACGGCTACTGGCTCCACGAGAATGGGCATGACTGCAAAGAG
GCTGGCTGTGCACACAAGATCAGCAGTGTGGAGGGGACCCTGGCGAGCCCCAACTGGCCTGACA
AATACCCCAGCCGGAGGGAGTGTACCTGGAACATCTCTTCGACTGCAGGCCACAGAGTGAAACT
CACCTTTAATGAGTTTGAGATCGAGCAGCACCAGGAATGTGCCTATGACCACCTGGAAATGTAT
GACGGGCCGGACAGCCTGGCCCCCATTCTGGGCCGTTTCTGCGGCAGCAAGAAACCAGACCCCA
CGGTGGCTTCCGGCAGCAGTATGTTTCTCAGGTTTTATTCGGATGCCTCAGTGCAGAGGAAAGG
CTTCCAGGCAGTGCACAGCACAGAGTGCGGGGGCAGGCTGAAGGCTGAAGTGCAGACCAAAGAG
CTCTATTCCCACGCCCAGTTTGGGGACAACAACTACCCGAGCGAGGCCCGCTGTGACTGGGTGA
TCGTGGCAGAGGACGGCTACGGCGTGGAGCTGACATTCCGGACCTTTGAGGTTGAGGAGGAGGC
CGACTGCGGCTACGACTACATGGAAGCCTACGACGGCTACGACAGCTCAGCGCCCAGGCTCGGC
CGCTTCTGTGGCTCTGGGCCATTAGAAGAAATCTACTCTGCAGGTGATTCCCTGATGATTCGAT
TCCGCACAGATGACACCATCAACAAGAAAGGCTTTCATGCCCGATACACCAGCACCAAGTTCCA
GGATGCCCTGCACATGAAGAAATAGTGCTGATGTTCTTGAAAGACAGAAACTGAGAATTTTTTT
TGTTTTGTTTTGTTTTTAACAACAATAGCACCTTGAAAATCTGCCCTAAAACAGTGTACAGTAT
TTTTCTCAAACAAAAACTCAGAATCCAGCCTTAGAGGTATATATTTGAATGAAAGTCTTGTAAG
TTTGGCCAACAAGGTGGAGAGAAAAATGTTCTTTTGCTTCTGTCTGCAATGTTATCATTCATGA
ACTGTTAAAGTGTTAAAGATTAGGATTGAAGTCACTGACCATTCCGGCTATGCTTCTTCATACC
ATTCTCCTTGTCCCTTGCTCCTATGTGGCAAAAGGTCAGCCTTGGGGTTGGCCGTTCCTCTAAT
CTGGACTTGCTTGCAAAGGTGCCAGGCTGTCTTCTGTCCATGTTGGGCATAAGGGATGAAAACT
TGGCCGAGACTAATGTGTGGCCCACAGCTTTGGCTGGAATCATTTTCTTTCTCTCTGCCAGGGA
CATGTCAACCAAGAAACCTGAAAATATGGATGGATGTCAGGACTAAAAAAAGGCATCACAGTGA
GCAGTGAGCACAGAGGGAGTTTCGAGTATAAGAATCATTGTCATGAAGTTAGGAGACCACAAAG
CCATTTCTCAGAGTCATTCACTCTCCTTGTCCCTTTGGTTTCCCCCCCTCCCTAATTGCAGTGG
GGGCTAAGGCATCCATTATGAATACAGCAGAACATTTGCTGGCGAGAGTCCTGTCTGCTGAGAA
GACAATATTGTGGCTCGTCCTGATATTTTTTTCATTCATTGACTTTGAGAAGACTCCACCTGTG
CTTGGAATTCCATGGGCTTCAAAGAACATTTCTTCTTTTAGCTTTGGAGGCACTTGCCGTGGCA
CACCTGGACTCCTTGACATCCAATTCAAACTGCATTTGCAAAATGTGCAAAGACCTCTTATGAG
GGACCAATTCAGGTCCCTTATGGGGTGAACACTGTTGAAGACTGGTTAATTATAAGTTATGTAA
GAATCATCGCCTTGTGGAACAAGTCAATCAGTGACTAGCTTCCTGTAGCCAATCAGGTTAAAGA
GTGCGTTGGTAACTTTGCTCTGATTAACTAGTATTCAATCACCAACTTGCAAACAGAATTCATA
ACACTTGGCACTTGTTCTAGAGAAGTGTAGAGGATGATGTTTACATAATTTTAGCACCTCAAGG
TATAATTTAAACAGTGAGGTAGTTTTGAATGGCATTTCATTAAGGCATCTATGGGCATTATGAG
CTAAAAGCTGTGGTATGTTAGCTTTAAAAGAGTATTTATGTTGGAATAATTTTTAAATAATGTT
TACATAACTGTAAGTCCTGTTTGGTTGTTGTTGGACGCAGGGCGGCACATGAGTGTTTTTGGTT
AGAGCCAAGATAGCTCCCATGCACCGGAATTCCTTTGGGATGAATCAGCATCATTTTAAACAAA
GTATATGTAAAAGGTGAAAGGTTATATTTTTTACAGATCAGAATGTGGCACCAGAGGACTGTGT
CTCATTAAAGTGATTGCTGGGAGCAAAAACTAGAATGATACAAAGAAAGGTCAGAGAAATGCAT
GGGAATATTTTTTCCTTAAAACAGAAAAAAATTAAAGTATTATTAATAATATATGTCTGTATAT
ATGTATGTATGTAAAAGATCAGCTGTCAAAGCCTTAATCAATGCAGTGTGGAAAATGCCAACCC
CTGGTCCTCGCTTTACTGTGGGCCCTGCAGGACTGGCTCTCCATTTCCTGCCTCTCCTTTCACC
AAGCTCTGTTTTGGCCTTTCTCGGCCCTGGACTGAGGCTCAGCCTACACGCTCATATTGTGCAT
ATGGCAGACCCTGCCCAGCGTGCGCTTTGATACAGCAAATGGAGCAGCTGACCTCATGGCTCCA
ATCCCACCTGCCTGTTAGGGTAGATTCCATTTATCTGATTTTTGTATTTTCTGAGGTTTTATTT
GGTCTCATCTTGTCTATGAGAGTTGAAACTGGAACTGGGAAACCTAAGATGGGTGTTATGGTTC
TTTCTCCAAGGAAATAAAAATTCTGCAGTTTTAACCTTTAGAAGTCTAAGCAAGATTAACAAAT
TTCATAGAAAAGTGGGAGGGAGTCAGAAACAGAGTTGGTGCTGCTCAGCAGGACGGTGAAACAA
TGATACTTCTTTTTATCTCTTTAGTATGAACATTTTCAAAAACACACAGCTTCAACAATTGTCA
CCATATGGCCAATTTGCAACAATGGGACTCTTATGAAAAACCTTTATTTAGGCCTTCTGTGTGA
CGTATCCACAGAAAAGAGAAGCTCTGATTCAGCTGGGGCTAGCTGGGCCGCTCCTCTGGAAGCC
CACACTTGTGGGGACTTAGGCATGACACAGGTTCTTGCAAAGAAACTAGAGGCTGGCTTCACTA
GAGAGAGTCCATTCAGCAGAAAGTCCCAGGCCTCTGCCTTGGTGCTTCCAATTATCAGTGACCT
GCCTGCAAGCATCCCCAGAAGCAAACAGCAGAGGTAGAAGATATCACTGCAGCCTGCTTTGTGC
TTTAATTGGGTACCAAGCTTTGGGGATGACAGTGAGTTGCAAGAATAGTTTTAGTTCAGAGAAT
TGTCTTAGGACAACAGGCTAATGAAGGATTTGGGGTCTGGGTTTTTAGCCTGGCTCCGTTCTGG
TGTAACCCGGTCTAGCAAAAGCTAAGCCTGGATTGCAGGGCAGGAAAAAATCTGGAATTAACTT
TAGCCAGTGGAATTTCTTCAAACAGAGAAAGAGAGGCTGTTCATTGATCCACTATTCCCTCTAT
TTTCCTCTAAGGTAAATATTTAGAGGTATTTACCTGTAAGGTGAAGTTTCCTTTTTATTTCTAC
TTTACAATTTCTCTCTAAAGCAAGCTTGTCCAACCCTTGGCCCAGGACGGCTTTGAATATGGCC
CGACACAAATTCGTAAACTTTTTAAAAAACATTGTAAGATTCTTTCTGTGATTTTTTTTTTTCT
CGTCAGCTATCGTTAGTGTATTTTATGTGTGGCCCAAGATAATTCTTCTTCCAATGTGGCCCAG
GGAAGCCAAAAGATGGGACACCCCTGCTGTAAAGTTTCATATCACTCATGAATTGCTCAGCTGA
TTTAAATAATTTGTAAAATCCTGCTAACTAGCAAATTCACATTGAGATTTTCTATTGATTGGGT
CCCTTTGATAGCTTTCAGATTGGTATTGTTAGCGTTCCATTTGTGAACAAATGTTCCCTTGGCT
TTAGCAGATGTTTTTAAAGTTTCTTTTGTAGACCGAACTTCTGAAGAGTAATACCAAATGCCTA
AAATTTTATTTTTAAAAAGGAAAATTGTTTAAAGTATTATATGTAAACATATGGGTATTTTTTA
TTTTGTGTAATTTTACATTTCATGAAATGATGTCAGTTTCAAAGAGAAAGTGGAGAGGACCTAA
CATATGTCTCTACCTAGAACGGATGGTTTCATTAAAGAATGTGGATTTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_036597	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD42979	(Get FASTA)	NCBI Sequence Viewer
	AAH13871	(Get FASTA)	NCBI Sequence Viewer
	AAI12342	(Get FASTA)	NCBI Sequence Viewer
	AAI12367	(Get FASTA)	NCBI Sequence Viewer
	AAI13578	(Get FASTA)	NCBI Sequence Viewer
	BAA76776	(Get FASTA)	NCBI Sequence Viewer
	EAW49975	(Get FASTA)	NCBI Sequence Viewer
	EAW49976	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000350630
	ENSP00000350630.3
GenBank Protein	Q9Y6L7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_036597 ⟸ NM_012465
- Peptide Label:	precursor
- UniProtKB:	Q6PJN5 (UniProtKB/Swiss-Prot), Q2M1H1 (UniProtKB/Swiss-Prot), A6NDK0 (UniProtKB/Swiss-Prot), Q9UQ00 (UniProtKB/Swiss-Prot), Q9Y6L7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPRATALGALVSLLLLLPLPRGAGGLGERPDATADYSELDGEEGTEQQLEHYHDPCKAAVFWGD IALDEDDLKLFHIDKARDWTKQTVGATGHSTGGLEEQASESSPDTTAMDTGTKEAGKDGRENTT LLHSPGTLHAAAKTFSPRVRRATTSRTERIWPGGVIPYVIGGNFTGSQRAIFKQAMRHWEKHTC VTFIERTDEESFIVFSYRTCGCCSYVGRRGGGPQAISIGKNCDKFGIVAHELGHVVGFWHEHTR PDRDQHVTIIRENIQPGQEYNFLKMEAGEVSSLGETYDFDSIMHYARNTFSRGVFLDTILPRQD DNGVRPTIGQRVRLSQGDIAQARKLYKCPACGETLQDTTGNFSAPGFPNGYPSYSHCVWRISVT PGEKIVLNFTSMDLFKSRLCWYDYVEVRDGYWRKAPLLGRFCGDKIPEPLVSTDSRLWVEFRSS SNILGKGFFAAYEATCGGDMNKDAGQIQSPNYPDDYRPSKECVWRITVSEGFHVGLTFQAFEIE RHDSCAYDYLEVRDGPTEESALIGHFCGYEKPEDVKSSSNRLWMKFVSDGSINKAGFAANFFKE VDECSWPDHGGCEHRCVNTLGSYKCACDPGYELAADKKMCEVACGGFITKLNGTITSPGWPKEY PTNKNCVWQVVAPAQYRISLQFEVFELEGNDVCKYDFVEVRSGLSPDAKLHGRFCGSETPEVIT SQSNNMRVEFKSDNTVSKRGFRAHFFSDKDECAKDNGGCQHECVNTFGSYLCRCRNGYWLHENG HDCKEAGCAHKISSVEGTLASPNWPDKYPSRRECTWNISSTAGHRVKLTFNEFEIEQHQECAYD HLEMYDGPDSLAPILGRFCGSKKPDPTVASGSSMFLRFYSDASVQRKGFQAVHSTECGGRLKAE VQTKELYSHAQFGDNNYPSEARCDWVIVAEDGYGVELTFRTFEVEEEADCGYDYMEAYDGYDSS APRLGRFCGSGPLEEIYSAGDSLMIRFRTDDTINKKGFHARYTSTKFQDALHMKK hide sequence

Ensembl Acc Id:

ENSP00000350630 ⟸ ENST00000357947

Protein Domains

CUB EGF-like Peptidase M12A

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y6L7-F1-model_v2	AlphaFold	Q9Y6L7	1-1015	view protein structure

Promoters

RGD ID:

7218279

Promoter ID:

EPDNEW_H14886

Type:

initiation region

Name:

TLL2_1

Description:

tolloid 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	10	96,513,918 - 96,513,978	EPDNEW

RGD ID:

6788300

Promoter ID:

HG_KWN:10706

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, Lymphoblastoid, NB4

Transcripts:

NM_012465, UC009XVF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	98,263,356 - 98,263,856 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11844	AgrOrtholog
COSMIC	TLL2	COSMIC
Ensembl Genes	ENSG00000095587	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000357947	ENTREZGENE
	ENST00000357947.4	UniProtKB/Swiss-Prot
Gene3D-CATH	2.60.120.290	UniProtKB/Swiss-Prot
	3.40.390.10	UniProtKB/Swiss-Prot
	Laminin	UniProtKB/Swiss-Prot
GTEx	ENSG00000095587	GTEx
HGNC ID	HGNC:11844	ENTREZGENE
Human Proteome Map	TLL2	Human Proteome Map
InterPro	BMP_1/tolloid-like	UniProtKB/Swiss-Prot
	CUB_dom	UniProtKB/Swiss-Prot
	EGF-like_Ca-bd_dom	UniProtKB/Swiss-Prot
	EGF-like_dom	UniProtKB/Swiss-Prot
	EGF-type_Asp/Asn_hydroxyl_site	UniProtKB/Swiss-Prot
	EGF_Ca-bd_CS	UniProtKB/Swiss-Prot
	MetalloPept_cat_dom_sf	UniProtKB/Swiss-Prot
	NOTCH1_EGF-like	UniProtKB/Swiss-Prot
	Peptidase_M12A	UniProtKB/Swiss-Prot
	Peptidase_Metallo	UniProtKB/Swiss-Prot
	Sperma_CUB_dom_sf	UniProtKB/Swiss-Prot
	ZnMP_TLD/BMP1	UniProtKB/Swiss-Prot
KEGG Report	hsa:7093	UniProtKB/Swiss-Prot
NCBI Gene	7093	ENTREZGENE
OMIM	606743	OMIM
PANTHER	METALLOENDOPEPTIDASE	UniProtKB/Swiss-Prot
	OVOCHYMASE-RELATED	UniProtKB/Swiss-Prot
Pfam	Astacin	UniProtKB/Swiss-Prot
	CUB	UniProtKB/Swiss-Prot
	EGF_CA	UniProtKB/Swiss-Prot
	FXa_inhibition	UniProtKB/Swiss-Prot
PharmGKB	PA36546	PharmGKB
PIRSF	BMP_1/tolloid-like	UniProtKB/Swiss-Prot
PRINTS	ASTACIN	UniProtKB/Swiss-Prot
PROSITE	ASTACIN	UniProtKB/Swiss-Prot
	CUB	UniProtKB/Swiss-Prot
	EGF_2	UniProtKB/Swiss-Prot
	EGF_3	UniProtKB/Swiss-Prot
	EGF_CA	UniProtKB/Swiss-Prot
	ZINC_PROTEASE	UniProtKB/Swiss-Prot
SMART	CUB	UniProtKB/Swiss-Prot
	EGF	UniProtKB/Swiss-Prot
	EGF_CA	UniProtKB/Swiss-Prot
	ZnMc	UniProtKB/Swiss-Prot
Superfamily-SCOP	EGF/Laminin	UniProtKB/Swiss-Prot
	Metalloproteases ('zincins'), catalytic domain	UniProtKB/Swiss-Prot
	SSF49854	UniProtKB/Swiss-Prot
UniProt	A6NDK0	ENTREZGENE
	Q2M1H1	ENTREZGENE
	Q6PJN5	ENTREZGENE
	Q9UQ00	ENTREZGENE
	Q9Y6L7	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A6NDK0	UniProtKB/Swiss-Prot
	Q2M1H1	UniProtKB/Swiss-Prot
	Q6PJN5	UniProtKB/Swiss-Prot
	Q9UQ00	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-18	TLL2	tolloid like 2	TLL2	tolloid-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)

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar