LBH (LBH regulator of WNT signaling pathway)

Gene: LBH (LBH regulator of WNT signaling pathway) Homo sapiens

Analyze

Symbol:

LBH

Name:

LBH regulator of WNT signaling pathway

RGD ID:

1604281

HGNC Page

HGNC:29532

Description:

Involved in negative regulation of DNA-templated transcription; positive regulation of DNA-templated transcription; and regulation of MAPK cascade. Located in cytoplasm and nucleus. Part of protein-containing complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DKFZp566J091; hLBH; limb bud and heart development; limb bud and heart development homolog; limb bud and heart development protein homolog; MGC104312; MGC163287

RGD Orthologs

Alliance Genes

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):	Lbh (limb-bud and heart)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Lbh (LBH regulator of WNT signaling pathway)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Lbh (LBH regulator of WNT signaling pathway)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	LBH (LBH regulator of WNT signaling pathway)	NCBI	Ortholog
Canis lupus familiaris (dog):	LBH (LBH regulator of WNT signaling pathway)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Lbh (LBH regulator of WNT signaling pathway)	NCBI	Ortholog
Sus scrofa (pig):	LBH (LBH regulator of WNT signaling pathway)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	LBH (LBH regulator of WNT signaling pathway)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Lbh (LBH regulator of WNT signaling pathway)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Lbh (LBH regulator of WNT signaling pathway)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Lbh (limb-bud and heart)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	lbh (limb bud and heart development)	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	lbh	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	lbh.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	lbh.S	Alliance	DIOPT (Xenbase)

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	2	30,231,534 - 30,260,028 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	30,231,534 - 30,323,730 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	30,454,400 - 30,482,894 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	30,307,901 - 30,336,403 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	2	30,288,761 - 30,325,820 (+)	NCBI		Celera
Cytogenetic Map	2	p23.1	NCBI
HuRef	2	30,192,937 - 30,221,438 (+)	NCBI		HuRef
CHM1_1	2	30,384,624 - 30,413,128 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	30,275,785 - 30,304,277 (+)	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

Experimental Liver Cirrhosis (EXP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-demecolcine (EXP)

1-naphthyl isothiocyanate (ISO)

17beta-estradiol (EXP,ISO)

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

3,3',5,5'-tetrabromobisphenol A (ISO)

4,4'-diaminodiphenylmethane (ISO)

4-hydroxyphenyl retinamide (ISO)

acetamide (ISO)

all-trans-retinoic acid (EXP)

amphetamine (ISO)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP)

bis(2-chloroethyl) sulfide (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

butan-1-ol (EXP)

butanal (EXP)

calcitriol (EXP)

cantharidin (ISO)

carbon nanotube (ISO)

chloroprene (ISO)

choline (ISO)

cisplatin (EXP)

clobetasol (ISO)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

Cuprizon (ISO)

cyclosporin A (EXP)

cytarabine (EXP)

DDT (ISO)

dibutyl phthalate (ISO)

dioxygen (ISO)

doxorubicin (EXP)

endosulfan (ISO)

ethanol (EXP)

fenofibrate (EXP)

fenthion (ISO)

folic acid (ISO)

genistein (ISO)

gentamycin (ISO)

hydrogen peroxide (EXP)

indometacin (EXP)

inulin (ISO)

irinotecan (EXP)

isobutanol (EXP)

isoprenaline (ISO)

L-methionine (ISO)

lead diacetate (ISO)

lipopolysaccharide (EXP,ISO)

methidathion (ISO)

methylisothiazolinone (EXP)

methylmercury chloride (EXP)

mitoxantrone (EXP)

mono(2-ethylhexyl) phthalate (EXP,ISO)

Monobutylphthalate (ISO)

N-methyl-4-phenylpyridinium (EXP)

N-nitrosodimethylamine (ISO)

naphthalene (ISO)

niclosamide (EXP)

p-toluidine (ISO)

paracetamol (ISO)

pentanal (EXP)

perfluorooctane-1-sulfonic acid (ISO)

pirinixic acid (ISO)

propanal (EXP)

quercetin (EXP)

raloxifene (EXP)

rotenone (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

silicon dioxide (EXP)

silver atom (EXP)

silver(0) (EXP)

simvastatin (ISO)

sodium arsenate (ISO)

sodium arsenite (EXP,ISO)

sunitinib (EXP)

T-2 toxin (EXP)

tamoxifen (EXP)

tebuconazole (EXP)

testosterone (ISO)

tetrachloromethane (ISO)

thapsigargin (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triclosan (EXP)

urethane (EXP)

valdecoxib (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

vincristine (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

mammary gland development (IEA)

mammary gland epithelial cell differentiation (IEA)

negative regulation of DNA-templated transcription (IDA)

negative regulation of intracellular estrogen receptor signaling pathway (IEA)

negative regulation of stem cell differentiation (IEA)

positive regulation of DNA-templated transcription (IBA,IDA,IEA,ISO)

positive regulation of mammary stem cell proliferation (IEA)

positive regulation of somatic stem cell division (IEA)

positive regulation of somatic stem cell population maintenance (IEA)

regulation of DNA-templated transcription (IEA)

regulation of gene expression (IEA)

regulation of MAPK cascade (IMP)

Cellular Component

cytoplasm (IDA,IEA)

nucleus (IBA,IDA,IEA)

protein-containing complex (IDA)

Molecular Function

protein binding (IPI)

References

References - curated

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

Additional References at PubMed

PMID:8125298	PMID:8889548	PMID:11076863	PMID:11181995	PMID:11230166	PMID:11336496	PMID:12477932	PMID:14702039	PMID:15489336	PMID:15958514	PMID:16094384	PMID:16381901
PMID:17192395	PMID:17390236	PMID:18029348	PMID:18391951	PMID:19240061	PMID:20546612	PMID:20587334	PMID:20606007	PMID:21383967	PMID:21810271	PMID:21873635	PMID:21988832
PMID:24390342	PMID:25557837	PMID:25707478	PMID:26134586	PMID:26760575	PMID:27159840	PMID:27880917	PMID:29788015	PMID:30549979	PMID:33961781	PMID:34000384	PMID:34445087
PMID:34975330	PMID:37268816	PMID:38297083

Genomics

Comparative Map Data

LBH
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	30,231,534 - 30,260,028 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	30,231,534 - 30,323,730 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	30,454,400 - 30,482,894 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	30,307,901 - 30,336,403 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	2	30,288,761 - 30,325,820 (+)	NCBI		Celera
Cytogenetic Map	2	p23.1	NCBI
HuRef	2	30,192,937 - 30,221,438 (+)	NCBI		HuRef
CHM1_1	2	30,384,624 - 30,413,128 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	30,275,785 - 30,304,277 (+)	NCBI		T2T-CHM13v2.0

Lbh
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	73,225,300 - 73,248,941 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	73,225,300 - 73,248,942 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	72,918,305 - 72,941,946 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	72,918,305 - 72,941,947 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	73,267,645 - 73,291,286 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	72,823,326 - 72,846,942 (+)	NCBI		MGSCv36	mm8
Celera	17	77,201,369 - 77,224,975 (+)	NCBI		Celera
Cytogenetic Map	17	E1.3	NCBI
cM Map	17	44.73	NCBI

Lbh
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	28,321,040 - 28,344,855 (-)	NCBI		GRCr8
mRatBN7.2	6	22,569,238 - 22,593,056 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	22,568,834 - 22,593,079 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	22,900,702 - 22,924,517 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	23,216,535 - 23,240,350 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	22,699,234 - 22,723,154 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	24,154,207 - 24,184,217 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	24,160,226 - 24,181,866 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	34,010,473 - 34,031,267 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	22,662,376 - 22,664,667 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	6	22,105,340 - 22,129,287 (-)	NCBI		Celera
Cytogenetic Map	6	q14	NCBI

Lbh
(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_004955469	12,054,727 - 12,078,796 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955469	12,054,727 - 12,078,796 (+)	NCBI	ChiLan1.0	ChiLan1.0

LBH
(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	12	96,240,784 - 96,269,439 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	96,244,758 - 96,273,413 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	30,244,474 - 30,273,048 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	30,320,247 - 30,348,139 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	30,320,249 - 30,411,779 (+)	Ensembl	panpan1.1		panPan2

LBH
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	17	23,939,135 - 23,969,611 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	17	23,938,772 - 24,022,140 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	17	23,736,913 - 23,762,365 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	17	24,505,537 - 24,531,139 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	17	24,500,181 - 24,583,683 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	17	23,811,250 - 23,836,515 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	17	23,874,403 - 23,899,677 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	17	23,973,706 - 23,999,175 (+)	NCBI		UU_Cfam_GSD_1.0

Lbh
(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_024406292	68,040,234 - 68,088,820 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936493	2,750,745 - 2,776,141 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936493	2,750,745 - 2,776,145 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LBH
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	109,078,286 - 109,105,529 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	109,078,285 - 109,113,536 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	115,765,351 - 115,795,411 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LBH
(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	14	77,278,080 - 77,306,721 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	77,280,510 - 77,306,518 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	34,778,813 - 34,807,286 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Lbh
(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_004624738	12,106,236 - 12,130,052 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624738	12,098,227 - 12,129,968 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in LBH
9 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3	copy number gain	See cases [RCV000052929]	Chr2:30141..31766749 [GRCh38] Chr2:30141..31991818 [GRCh37] Chr2:20141..31845322 [NCBI36] Chr2:2p25.3-23.1	pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	copy number gain	See cases [RCV000052933]	Chr2:66097..55570637 [GRCh38] Chr2:66097..55797773 [GRCh37] Chr2:56097..55651277 [NCBI36] Chr2:2p25.3-16.1	pathogenic
inv(2)(p21p23.2)	inversion	Endometrial carcinoma [RCV000659263]	Chr2:29447680..42554394 [GRCh37] Chr2:2p23.2-21	likely pathogenic
GRCh38/hg38 2p23.1(chr2:29907153-30845898)x3	copy number gain	See cases [RCV000136571]	Chr2:29907153..30845898 [GRCh38] Chr2:30130019..31068764 [GRCh37] Chr2:29983523..30922268 [NCBI36] Chr2:2p23.1	uncertain significance
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	copy number gain	See cases [RCV000141829]	Chr2:12770..33711509 [GRCh38] Chr2:12770..33936576 [GRCh37] Chr2:2770..33790080 [NCBI36] Chr2:2p25.3-22.3	pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	copy number gain	See cases [RCV000141494]	Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2	benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	copy number gain	See cases [RCV000143682]	Chr2:236816..45983232 [GRCh38] Chr2:236816..46210371 [GRCh37] Chr2:226816..46063875 [NCBI36] Chr2:2p25.3-21	pathogenic
GRCh37/hg19 2p23.1(chr2:30371106-31490282)x3	copy number gain	See cases [RCV000240369]	Chr2:30371106..31490282 [GRCh37] Chr2:2p23.1	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	copy number gain	See cases [RCV000454271]	Chr2:27861707..60790985 [GRCh37] Chr2:2p23.3-16.1	pathogenic
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	copy number gain	See cases [RCV000447397]	Chr2:28069882..43543420 [GRCh37] Chr2:2p23.2-21	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	inversion	Small cell lung carcinoma [RCV000576833]	Chr2:29446394..42552694 [GRCh37] Chr2:2p23.2-21	pathogenic
NM_030915.4(LBH):c.296C>T (p.Ala99Val)	single nucleotide variant	Inborn genetic diseases [RCV003280309]	Chr2:30257599 [GRCh38] Chr2:30480465 [GRCh37] Chr2:2p23.1	uncertain significance
GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1	copy number loss	not provided [RCV000682149]	Chr2:29240004..32380876 [GRCh37] Chr2:2p23.2-22.3	pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3	copy number gain	not provided [RCV000752875]	Chr2:22665048..52850368 [GRCh37] Chr2:2p24.1-16.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	copy number gain	not provided [RCV001532444]	Chr2:24881528..43460021 [GRCh37] Chr2:2p23.3-21	likely pathogenic
GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1	copy number loss	not provided [RCV000848001]	Chr2:29940473..36813297 [GRCh37] Chr2:2p23.2-22.2	pathogenic
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	copy number gain	See cases [RCV001581099]	Chr2:24601818..43466284 [GRCh37] Chr2:2p23.3-21	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	copy number loss	not specified [RCV002053089]	Chr2:29899368..42441440 [GRCh37] Chr2:2p23.2-21	pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	copy number loss	See cases [RCV002287563]	Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13	pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	copy number gain	not provided [RCV002473946]	Chr2:706460..35523639 [GRCh37] Chr2:2p25.3-22.3	pathogenic
NM_030915.4(LBH):c.33C>A (p.Asp11Glu)	single nucleotide variant	Inborn genetic diseases [RCV002990998]	Chr2:30234411 [GRCh38] Chr2:30457277 [GRCh37] Chr2:2p23.1	uncertain significance
NM_030915.4(LBH):c.178C>T (p.Arg60Cys)	single nucleotide variant	Inborn genetic diseases [RCV002744919]	Chr2:30257481 [GRCh38] Chr2:30480347 [GRCh37] Chr2:2p23.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3107
Count of miRNA genes:	1079
Interacting mature miRNAs:	1330
Transcripts:	ENST00000395323, ENST00000401506, ENST00000404397, ENST00000406087, ENST00000407930, ENST00000412933, ENST00000464412, ENST00000467242, ENST00000484150
Prediction methods:	Microtar, 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.

Markers in Region

G19750

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	30,482,592 - 30,482,803	UniSTS	GRCh37
Build 36	2	30,336,096 - 30,336,307	RGD	NCBI36
Celera	2	30,325,513 - 30,325,724	RGD
Cytogenetic Map	2	p23.1	UniSTS
HuRef	2	30,221,131 - 30,221,342	UniSTS

A001X24

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	30,482,592 - 30,482,803	UniSTS	GRCh37
Build 36	2	30,336,096 - 30,336,307	RGD	NCBI36
Celera	2	30,325,513 - 30,325,724	RGD
Cytogenetic Map	2	p23.1	UniSTS
HuRef	2	30,221,131 - 30,221,342	UniSTS
GeneMap99-GB4 RH Map	2	101.67	UniSTS
NCBI RH Map	2	211.7	UniSTS

SHGC-154296

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	30,478,713 - 30,479,010	UniSTS	GRCh37
Build 36	2	30,332,217 - 30,332,514	RGD	NCBI36
Celera	2	30,321,634 - 30,321,931	RGD
Cytogenetic Map	2	p23.1	UniSTS
HuRef	2	30,217,252 - 30,217,549	UniSTS
TNG Radiation Hybrid Map	2	22054.0	UniSTS

A005C12

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	30,480,474 - 30,480,595	UniSTS	GRCh37
Build 36	2	30,333,978 - 30,334,099	RGD	NCBI36
Celera	2	30,323,395 - 30,323,516	RGD
Cytogenetic Map	2	p23.1	UniSTS
HuRef	2	30,219,013 - 30,219,134	UniSTS
GeneMap99-GB4 RH Map	2	103.33	UniSTS
NCBI RH Map	2	211.0	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2079

2588

1116

234

1603

3496

1427

1543

316

1244

1485

156

1153

2050

Low

293

401

591

379

313

366

855

766

2163

198

108

738

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_030915	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017005059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC104698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF110224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF258555	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI302040	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023425	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027232	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092206	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223541	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314598	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136703	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC109376	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC126434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU687531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN485291	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF025586	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000395323 ⟹ ENSP00000378733

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	30,231,534 - 30,260,028 (+)	Ensembl

RefSeq Acc Id:

ENST00000401506 ⟹ ENSP00000385703

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	30,232,153 - 30,257,760 (+)	Ensembl

RefSeq Acc Id:

ENST00000404397 ⟹ ENSP00000384443

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	30,231,537 - 30,323,730 (+)	Ensembl

RefSeq Acc Id:

ENST00000406087 ⟹ ENSP00000385409

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	30,231,537 - 30,257,656 (+)	Ensembl

RefSeq Acc Id:

ENST00000407930 ⟹ ENSP00000386106

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	30,232,180 - 30,257,670 (+)	Ensembl

RefSeq Acc Id:

ENST00000412933 ⟹ ENSP00000392167

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	30,231,536 - 30,257,548 (+)	Ensembl

RefSeq Acc Id:

ENST00000464412

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	30,231,537 - 30,256,701 (+)	Ensembl

RefSeq Acc Id:

ENST00000467242

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	30,232,157 - 30,258,040 (+)	Ensembl

RefSeq Acc Id:

ENST00000484150

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	30,234,266 - 30,257,700 (+)	Ensembl

RefSeq Acc Id:

NM_030915 ⟹ NP_112177

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	30,231,534 - 30,260,028 (+)	NCBI
GRCh37	2	30,454,397 - 30,482,899 (+)	RGD
Build 36	2	30,307,901 - 30,336,403 (+)	NCBI Archive
Celera	2	30,288,761 - 30,325,820 (+)	RGD
HuRef	2	30,192,937 - 30,221,438 (+)	RGD
CHM1_1	2	30,384,624 - 30,413,128 (+)	NCBI
T2T-CHM13v2.0	2	30,275,785 - 30,304,277 (+)	NCBI

Sequence:

show sequence

GCTGAGTGCTCAGTGGAGAGCGGGGAGTTGTGTCCACCTTGCCGACGTCGCTAGCCGTGGGGCT
GTCCTGGGAAGGCGGACGGCGAGCGCCCGGTGTCCGCACTCGGCCGCCTGCCGTGCCCGTCTGC
GCCCGTGTCATCCTCACTCGGGACGCAGGGACCGTTTTTAAATCACAGGGGCGTGTGTCAGCCT
GCCCTAGGACTTCATGTCTATATATTTCCCCATTCACTGCCCCGACTATCTGAGATCGGCCAAG
ATGACTGAGGTGATGATGAACACCCAGCCCATGGAGGAGATCGGCCTCAGCCCCCGCAAGGATG
GCCTTTCCTACCAGATCTTCCCAGACCCGTCAGATTTTGACCGCTGCTGCAAACTGAAGGACCG
TCTGCCCTCCATAGTGGTGGAACCCACAGAAGGGGAGGTGGAGAGCGGGGAGCTCCGGTGGCCC
CCTGAGGAGTTCCTGGTCCAGGAGGATGAGCAAGATAACTGCGAAGAGACAGCGAAAGAAAATA
AAGAGCAGTAGAGTCCCTGTGGACTCCCATGGGTCATACCAGCCAGCATCTGTTCCTGAACTGT
GTTTTTCCCATCATGACGGAAGAAGAGAGTGAGCCGCAATTGTTCTGAAAATGTCAAACGAGGC
TTCTGTTTTGCACCTGCAGATCACCGAGTTGGTTTTCTTTTCTTTTCTTGCCTTTTTTTTTTTT
TGAAATTTGCCGAGCAGTGGAGCCCTCTGACAATTTGCAAGGCCCTCTGAGAAAGGAAGCTGCT
TAGAGCCAGGGGGTTAGTGGGTGAGGGGAGCGAGTGCTGTTTTTGAGATCATTATCTGAACTCA
GGCAGCCTAGTAGAGGCAGTGGTGGGATTCCAATGGGTCTTGGTGGGTGGGAGGTGGGGCATGT
GCAAAGCAAGCAAGGAACATTTGGGGTAAGAAAACAAACATGAGGCAAAAGAAAAAATACATGT
TTTTAAGAAAACATTGAGCAGAGAACTGCAGCCAGGATGCGCTCAGCAGACATTCACTCTGGCT
GCTGGGACATCAGAAAACAAAGTCTTCATCTCTCTCTCCAGTTTCACCCACCCCACCCTTTGCT
TTCATTTCAGGTGTGTTGGTCTATATGACAGGGAGGAGAGTAAAGGAGAGCAGGAGCAATTGGC
TGCCTGCAAAGCCAGCTGGAGGTGAAGTGCAGGAAAGGAAAGGTCACCCCATTCTACTCCATGG
CCTCTCTGCTCCCAGCTGTGGTAGGCTCACATAGCCAGTGTGATCGGTTTTTAAGAGGCAGTGC
TTTTCAGCTTTTCTCCCTGATATATCCATTTTGCTTCCCAGCACTTTTTAGGAGTAGTGAGAGC
ACTTCCTGCCCTTGTTGGAAGCCCCAGGGTGGACACTCAGCACGAAGGTCTCTCCCTTAACTGC
TGCCCTTCCAAGACTTGCTCCCGAGATGGAGTGGGCGTGGTCTTCCAGGCTGGCCCTTCCTTCT
CCTCACCGCCACCTTCCCTGCCCCAGCCCCAGCAGCCATGGGTACATGGGTCCCCAGCTCACCT
ATGGATTCCCGCCAGTCTGCCCAGCTGCAGTACTCACGCCCCATGGGGGATCTTGGTCTGTTTT
TCTTGTGGGAGCCTAGTGGAGAGCAGACGTGGCTTTTTATGTGTCTTGTTGGGGAGGTGACTTG
CATGGTGGGGACAAGGCTGTCGTGGCAACCTTGGGATCGAGTTTGAGACTAAAGGATGTCATGA
GATCCCTGGCTTCTCCCCATGTTGTTCCCGGACAAGGGCAGAAGGGAGGCATGGCAAGGGACCT
CTGCTGTCCTTACTCAACAGTGGTCCTCATCCCTCCCCACCTCCCACTGCTTCCTGCAAGGGCA
CCAGTTGTATGAGAAAGTTGGCCTTTGGACTTAGGATTTCTTATTGTAGCTAAGAGCCATCTGA
AGCAGCAGGTTGCAGGACAAATGCTTCAGTCCGCCGAGAGCAGTACCGTGTGGCCAAGAGGTGG
ACTCAGAGCCTTCCTTGAGCTAAACTCGGCCAACCAAGGCACGCAGCATGTCCCCTCAGGTCTC
CAGTCAGTCCAGGTTGACCCTCAGTTCTGGACGTGTGTATATAGCTGTATTTAATACCTCAAGG
TCATTGTGGCTCTGGGGATGCCGGGGCAGGAGGACGAGGGTGCGCTGTGGACACAGCAGTCCGC
GGAATTCCGTTCTGGGAAGCCAATGGTCGCCGGCACCCCTTGCTTCCTCCCTCTGTTGTCTGCC
TGTGTGACACACATCAATGGCAATAACTTCTTCCAACTCCTCGCAGAAGTGGGAGAGGCCGGCA
GCCTGCACCGAGAGGGGCTTTCCTCTCTCTTGCTCCCCGCTTCGTTCTGTTTTGGCTGCAGAGA
GTGGTTCATCCATACTCTCATTCCCTCGCCTCCCCTTGTGGACGGGGGTCTTGCCTTTTCAATT
CCTGTGTTTTGGTGTCTTCCCTTATCTGCTACCCTGAATCACCTGTCCTGGTCTTGCTGTGTGA
TGGGAACATGCTTGTAAACTGCGTAACAAATCTACTTTGTGTATGTGTCTGTTTATGGGGGTGG
TTTATTATTTTTGCTGGTCCCTAGACCACTTTGTATGACCGTTTGCAGTCTGAGCAGGCCAGGG
GCTGACAGCTAATGTCAGGACCCTCAGCGGTGGAGCCTGCTGGGGGGACCCAGCTGCTCTTGGA
CAAGTGGCTGAGCTCCTATCTGGCCTCCTCTTTTTTTTTTTTTCAAGTAATTTGTGTGTATTTC
TAACTGATTGTATTGAAAAAATTCCTAGTATTTCAGTAAAAATGCCTGTTGTGAGATGAACCTC
CTGTAACTTCTATCTGTTCTTTTTTGAGGCTCAGGGAGAAACTAGCATTTTTTTTTTTCCAAAC
TACTTTTTGTCACTGTGACAGTTGTAAATAAAGTTTGAAAATGCTTTCCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_112177	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG23758	(Get FASTA)	NCBI Sequence Viewer
	AAI09377	(Get FASTA)	NCBI Sequence Viewer
	AAI26435	(Get FASTA)	NCBI Sequence Viewer
	AAI30416	(Get FASTA)	NCBI Sequence Viewer
	AAL36912	(Get FASTA)	NCBI Sequence Viewer
	AAY24349	(Get FASTA)	NCBI Sequence Viewer
	ABK30936	(Get FASTA)	NCBI Sequence Viewer
	BAD97261	(Get FASTA)	NCBI Sequence Viewer
	BAG37169	(Get FASTA)	NCBI Sequence Viewer
	CAB66638	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000378733
	ENSP00000378733.3
	ENSP00000384443.1
	ENSP00000385409.1
	ENSP00000385703.1
	ENSP00000386106.2
	ENSP00000392167.1
GenBank Protein	Q53QV2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_112177 ⟸ NM_030915
- UniProtKB:	B2RBC2 (UniProtKB/Swiss-Prot), Q9H0Q1 (UniProtKB/Swiss-Prot), Q53QV2 (UniProtKB/Swiss-Prot), B5MCP4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSIYFPIHCPDYLRSAKMTEVMMNTQPMEEIGLSPRKDGLSYQIFPDPSDFDRCCKLKDRLPSI VVEPTEGEVESGELRWPPEEFLVQEDEQDNCEETAKENKEQ hide sequence

RefSeq Acc Id:

ENSP00000392167 ⟸ ENST00000412933

RefSeq Acc Id:

ENSP00000385703 ⟸ ENST00000401506

RefSeq Acc Id:

ENSP00000384443 ⟸ ENST00000404397

RefSeq Acc Id:

ENSP00000385409 ⟸ ENST00000406087

RefSeq Acc Id:

ENSP00000386106 ⟸ ENST00000407930

RefSeq Acc Id:

ENSP00000378733 ⟸ ENST00000395323

Protein Domains

LBH

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q53QV2-F1-model_v2	AlphaFold	Q53QV2	1-105	view protein structure

Promoters

RGD ID:

6860020

Promoter ID:

EPDNEW_H3175

Type:

multiple initiation site

Name:

LBH_1

Description:

limb bud and heart development

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	30,231,534 - 30,231,594	EPDNEW

RGD ID:

6797730

Promoter ID:

HG_KWN:32069

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000395323, ENST00000401506, ENST00000404397, ENST00000406087, ENST00000407930, OTTHUMT00000325092, OTTHUMT00000325094, OTTHUMT00000325095

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	30,306,966 - 30,309,182 (+)	MPROMDB

RGD ID:

6797727

Promoter ID:

HG_KWN:32070

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, Lymphoblastoid

Transcripts:

OTTHUMT00000325390

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	30,309,711 - 30,310,917 (+)	MPROMDB

RGD ID:

6815325

Promoter ID:

HG_MRA:8593

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell

Transcripts:

AF110224, AF258555, BC012373

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	30,334,256 - 30,334,756 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29532	AgrOrtholog
COSMIC	LBH	COSMIC
Ensembl Genes	ENSG00000213626	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000395323	ENTREZGENE
	ENST00000395323.9	UniProtKB/Swiss-Prot
	ENST00000401506.1	UniProtKB/TrEMBL
	ENST00000404397.5	UniProtKB/TrEMBL
	ENST00000406087.5	UniProtKB/TrEMBL
	ENST00000407930.2	UniProtKB/TrEMBL
	ENST00000412933.5	UniProtKB/TrEMBL
GTEx	ENSG00000213626	GTEx
HGNC ID	HGNC:29532	ENTREZGENE
Human Proteome Map	LBH	Human Proteome Map
InterPro	LBH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LBH_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LBH_dom_prot	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:81606	UniProtKB/Swiss-Prot
NCBI Gene	81606	ENTREZGENE
OMIM	611763	OMIM
PANTHER	PROTEIN LBH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR14987	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Lbh	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162393798	PharmGKB
PIRSF	LBH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS	LBHPROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B2RBC2	ENTREZGENE
	B5MBX5_HUMAN	UniProtKB/TrEMBL
	B5MC28_HUMAN	UniProtKB/TrEMBL
	B5MCM2_HUMAN	UniProtKB/TrEMBL
	B5MCP4	ENTREZGENE, UniProtKB/TrEMBL
	F8WC18_HUMAN	UniProtKB/TrEMBL
	LBH_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q7LC25_HUMAN	UniProtKB/TrEMBL
	Q9H0Q1	ENTREZGENE
UniProt Secondary	B2RBC2	UniProtKB/Swiss-Prot
	Q9H0Q1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-04-16	LBH	LBH regulator of WNT signaling pathway		limb bud and heart development	Symbol and/or name change	5135510	APPROVED
2012-12-12	LBH	limb bud and heart development		limb bud and heart development homolog (mouse)	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 Disease Annotations - CTD

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD