BARX2 (BARX homeobox 2) - Rat Genome Database

Name: BARX2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: BARX2 (BARX homeobox 2) Homo sapiens

Analyze

Symbol:

BARX2

Name:

BARX homeobox 2

RGD ID:

1350102

HGNC Page

HGNC:956

Description:

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in several cellular components, including Golgi apparatus; actin cytoskeleton; and nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

BarH-like homeobox 2; homeobox protein BarH-like 2; MGC133368; MGC133369

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):	Barx2 (BarH-like homeobox 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Barx2 (BARX homeobox 2)	RGD	RGD
Chinchilla lanigera (long-tailed chinchilla):	Barx2 (BARX homeobox 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	BARX2 (BARX homeobox 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	BARX2 (BARX homeobox 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Barx2 (BARX homeobox 2)	NCBI	Ortholog
Sus scrofa (pig):	BARX2 (BARX homeobox 2)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	BARX2 (BARX homeobox 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Barx2 (BARX homeobox 2)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Barx2 (BARX homeobox 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Barx2 (BarH-like homeobox 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	barx2 (BARX homeobox 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus laevis (African clawed frog):	barx2.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	barx2.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	barx2	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	11	129,375,233 - 129,452,279 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	129,375,848 - 129,452,279 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	129,245,743 - 129,322,174 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	128,751,091 - 128,827,384 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	128,751,044 - 128,827,025	NCBI
Celera	11	126,414,612 - 126,490,903 (+)	NCBI		Celera
Cytogenetic Map	11	q24.3	NCBI
HuRef	11	125,197,559 - 125,273,843 (+)	NCBI		HuRef
CHM1_1	11	129,131,929 - 129,208,237 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	129,410,744 - 129,487,778 (+)	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

Chromosome 11, Partial Trisomy 11q (IAGP)

Dwarfism (IAGP)

genetic disease (IAGP)

Jacobsen Syndrome (IAGP)

schizophrenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP,ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

5-fluorouracil (EXP)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

aldehydo-D-glucose (ISO)

amitrole (ISO)

antimonite (EXP)

arsenite(3-) (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

choline (ISO)

chromium(6+) (ISO)

D-glucose (ISO)

dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate (EXP)

folic acid (ISO)

fructose (ISO)

fulvestrant (EXP)

glucose (ISO)

herbicide (ISO)

indole-3-methanol (ISO)

L-methionine (ISO)

lipopolysaccharide (EXP)

methimazole (ISO)

N-acetyl-L-cysteine (ISO)

N-nitrosodiethylamine (ISO)

paracetamol (ISO)

PCB138 (ISO)

resveratrol (EXP)

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

sodium arsenite (EXP)

sotorasib (EXP)

sulfadimethoxine (ISO)

testosterone (ISO)

titanium dioxide (ISO)

trametinib (EXP)

trichloroethene (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cartilage condensation (IEA,ISO)

myotube differentiation (IEA,ISO)

negative regulation of transcription by RNA polymerase II (IEA,ISO)

positive regulation of transcription by RNA polymerase II (IEA,IMP,ISO)

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA)

skeletal muscle cell differentiation (IEA,ISO)

transcription by RNA polymerase II (IEA,ISO)

Cellular Component

actin cytoskeleton (IDA)

chromatin (ISA)

cytosol (IDA)

Golgi apparatus (IDA)

nucleoplasm (IDA)

nucleus (IBA,IEA)

transcription regulator complex (IEA)

Molecular Function

chromatin binding (IEA)

DNA binding (IDA,IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (IMP)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,IEA,ISA)

protein binding (IPI)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IBA,IMP)

sequence-specific DNA binding (IEA)

sequence-specific double-stranded DNA binding (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Schizophrenia (IAGP)

Short stature (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:9122247	PMID:10644443	PMID:10854790	PMID:11278942	PMID:12477932	PMID:14702039	PMID:14744868	PMID:19274049	PMID:20634891	PMID:21873635	PMID:22238593	PMID:22383897
PMID:26354767	PMID:27453340	PMID:27533254	PMID:28473536	PMID:29341468	PMID:32236603	PMID:32296183	PMID:33550149	PMID:35037835

Genomics

Comparative Map Data

BARX2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	129,375,233 - 129,452,279 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	129,375,848 - 129,452,279 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	129,245,743 - 129,322,174 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	128,751,091 - 128,827,384 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	128,751,044 - 128,827,025	NCBI
Celera	11	126,414,612 - 126,490,903 (+)	NCBI		Celera
Cytogenetic Map	11	q24.3	NCBI
HuRef	11	125,197,559 - 125,273,843 (+)	NCBI		HuRef
CHM1_1	11	129,131,929 - 129,208,237 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	129,410,744 - 129,487,778 (+)	NCBI		T2T-CHM13v2.0

Barx2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	31,757,340 - 31,824,581 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	31,757,340 - 31,824,758 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	31,846,044 - 31,913,285 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	31,846,044 - 31,913,462 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	31,653,629 - 31,720,870 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	31,595,845 - 31,662,638 (-)	NCBI		MGSCv36	mm8
Celera	9	29,106,200 - 29,173,253 (-)	NCBI		Celera
Cytogenetic Map	9	A4	NCBI
cM Map	9	17.25	NCBI

Barx2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	38,509,277 - 38,576,978 (-)	NCBI		GRCr8
mRatBN7.2	8	30,251,132 - 30,319,105 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	30,251,132 - 30,319,013 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	8	32,950,878 - 33,018,245 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	32,950,875 - 33,017,854 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	32,973,711 - 33,040,595 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	31,572,341 - 31,659,306 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	8	31,710,513 - 31,778,220 (-)	NCBI		Celera
Cytogenetic Map	8	q21	NCBI

Barx2
(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_004955412	30,345,311 - 30,418,232 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955412	30,345,837 - 30,418,186 (+)	NCBI	ChiLan1.0	ChiLan1.0

BARX2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	130,053,913 - 130,134,590 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	131,161,438 - 131,242,079 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	124,187,026 - 124,264,154 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	128,086,441 - 128,162,833 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	128,086,409 - 128,162,833 (+)	Ensembl	panpan1.1		panPan2

BARX2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	5,238,795 - 5,311,027 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	5,239,517 - 5,310,648 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	5,298,474 - 5,372,031 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	5,196,807 - 5,270,452 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	5,197,533 - 5,271,156 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	5,258,336 - 5,331,876 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	5,240,819 - 5,314,348 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	5,268,897 - 5,342,390 (-)	NCBI		UU_Cfam_GSD_1.0

Barx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	111,533,573 - 111,603,814 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936572	2,846,551 - 2,916,842 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936572	2,846,862 - 2,916,842 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BARX2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	56,261,658 - 56,340,983 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	56,261,394 - 56,340,992 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	62,541,342 - 62,620,933 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

BARX2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	120,510,271 - 120,587,689 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	120,572,074 - 120,588,039 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	5,501,279 - 5,576,472 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Barx2
(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_004624812	3,720,303 - 3,802,701 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624812	3,720,302 - 3,802,630 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in BARX2
14 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	copy number gain	See cases [RCV000050331]	Chr11:116851395..134998513 [GRCh38] Chr11:116722111..134868407 [GRCh37] Chr11:116227321..134373617 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	copy number loss	See cases [RCV000050843]	Chr11:127604660..134998454 [GRCh38] Chr11:127474555..134868348 [GRCh37] Chr11:126979765..134373558 [NCBI36] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	copy number loss	See cases [RCV000050865]	Chr11:124155723..134998513 [GRCh38] Chr11:124026430..134868407 [GRCh37] Chr11:123531640..134373617 [NCBI36] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	copy number loss	See cases [RCV000050905]	Chr11:119433909..134998513 [GRCh38] Chr11:119304619..134868407 [GRCh37] Chr11:118809829..134373617 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	copy number gain	See cases [RCV000051162]	Chr11:126445805..134998513 [GRCh38] Chr11:126315700..134868407 [GRCh37] Chr11:125820910..134373617 [NCBI36] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	copy number gain	See cases [RCV000051213]	Chr11:118789765..134998513 [GRCh38] Chr11:118660474..134868407 [GRCh37] Chr11:118165684..134373617 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1	copy number loss	See cases [RCV000052715]	Chr11:119215032..134998654 [GRCh38] Chr11:119085742..134868548 [GRCh37] Chr11:118590952..134373758 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	copy number loss	See cases [RCV000052716]	Chr11:120507265..134576266 [GRCh38] Chr11:120377974..134446160 [GRCh37] Chr11:119883184..133951370 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	copy number loss	See cases [RCV000052741]	Chr11:126433740..135040246 [GRCh38] Chr11:126303635..134910140 [GRCh37] Chr11:125808845..134415350 [NCBI36] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	copy number gain	See cases [RCV000053638]	Chr11:100348599..135040246 [GRCh38] Chr11:100219331..134910140 [GRCh37] Chr11:99724541..134415350 [NCBI36] Chr11:11q22.1-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	copy number gain	See cases [RCV000053643]	Chr11:120236432..135040246 [GRCh38] Chr11:120107141..134910140 [GRCh37] Chr11:119612351..134415350 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]\|See cases [RCV000053645]	Chr11:123753493..134998513 [GRCh38] Chr11:123624201..134868407 [GRCh37] Chr11:123129411..134373617 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1	copy number loss	See cases [RCV000663397]	Chr11:125937383..134934063 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	copy number loss	See cases [RCV000134731]	Chr11:124205225..134998526 [GRCh38] Chr11:124075932..134868420 [GRCh37] Chr11:123581142..134373630 [NCBI36] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	copy number loss	See cases [RCV000134708]	Chr11:123799938..134998526 [GRCh38] Chr11:123670646..134868420 [GRCh37] Chr11:123175856..134373630 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	copy number gain	See cases [RCV000134064]	Chr11:116851372..134998526 [GRCh38] Chr11:116722088..134868420 [GRCh37] Chr11:116227298..134373630 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	copy number loss	See cases [RCV000136595]	Chr11:126046358..134998513 [GRCh38] Chr11:125916253..134868407 [GRCh37] Chr11:125421463..134373617 [NCBI36] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	copy number loss	See cases [RCV000136612]	Chr11:125241472..134998513 [GRCh38] Chr11:125111368..134868407 [GRCh37] Chr11:124616578..134373617 [NCBI36] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	copy number gain	See cases [RCV000137582]	Chr11:112864326..131189315 [GRCh38] Chr11:112832130..131059210 [GRCh37] Chr11:112240259..130564420 [NCBI36] Chr11:11q23.2-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	copy number gain	See cases [RCV000137453]	Chr11:116868935..135075271 [GRCh38] Chr11:116739651..134945165 [GRCh37] Chr11:116244861..134450377 [NCBI36] Chr11:11q23.3-25	pathogenic\|conflicting data from submitters
GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	copy number loss	See cases [RCV000137719]	Chr11:127564482..135075271 [GRCh38] Chr11:127434377..134945165 [GRCh37] Chr11:126939587..134450377 [NCBI36] Chr11:11q24.2-25	pathogenic\|likely benign
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	copy number loss	See cases [RCV000138014]	Chr11:121780459..135075271 [GRCh38] Chr11:121651167..134945165 [GRCh37] Chr11:121156377..134450377 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	copy number loss	See cases [RCV000138163]	Chr11:126046358..135075271 [GRCh38] Chr11:125916253..134945165 [GRCh37] Chr11:125421463..134450377 [NCBI36] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	copy number loss	See cases [RCV000138675]	Chr11:124940059..135075271 [GRCh38] Chr11:124809955..134945165 [GRCh37] Chr11:124315165..134450377 [NCBI36] Chr11:11q24.2-25	pathogenic\|likely benign
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	copy number loss	See cases [RCV000138373]	Chr11:120515759..135075271 [GRCh38] Chr11:120386468..134945165 [GRCh37] Chr11:119891678..134450377 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	copy number gain	See cases [RCV000138307]	Chr11:116806268..135075271 [GRCh38] Chr11:116676984..134945165 [GRCh37] Chr11:116182194..134450377 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	copy number loss	See cases [RCV000138544]	Chr11:123963074..135075271 [GRCh38] Chr11:123833781..134945165 [GRCh37] Chr11:123338991..134450377 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	copy number loss	See cases [RCV000138947]	Chr11:119424297..135075271 [GRCh38] Chr11:119295007..134945165 [GRCh37] Chr11:118800217..134450377 [NCBI36] Chr11:11q23.3-25	pathogenic\|likely benign
GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	copy number loss	See cases [RCV000139117]	Chr11:126199589..135075271 [GRCh38] Chr11:126069484..134945165 [GRCh37] Chr11:125574694..134450377 [NCBI36] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	copy number loss	See cases [RCV000139907]	Chr11:124315025..134818116 [GRCh38] Chr11:124184921..134688010 [GRCh37] Chr11:123690131..134193220 [NCBI36] Chr11:11q24.2-25	pathogenic
GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1	copy number loss	See cases [RCV000139715]	Chr11:128867946..133086998 [GRCh38] Chr11:128737841..132956893 [GRCh37] Chr11:128243051..132462103 [NCBI36] Chr11:11q24.3-25	likely pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	copy number loss	See cases [RCV000139622]	Chr11:121689052..135075271 [GRCh38] Chr11:121559760..134945165 [GRCh37] Chr11:121064970..134450377 [NCBI36] Chr11:11q24.1-25	pathogenic\|likely benign
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	copy number loss	See cases [RCV000142210]	Chr11:121806547..135068576 [GRCh38] Chr11:121677255..134938470 [GRCh37] Chr11:121182465..134443680 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	copy number loss	See cases [RCV000142185]	Chr11:121611476..135068576 [GRCh38] Chr11:121482185..134938470 [GRCh37] Chr11:120987395..134443680 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	copy number loss	See cases [RCV000143755]	Chr11:127915964..135068576 [GRCh38] Chr11:127785859..134938470 [GRCh37] Chr11:127291069..134443680 [NCBI36] Chr11:11q24.3-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	copy number gain	See cases [RCV000148276]	Chr11:116851395..134998513 [GRCh38] Chr11:116722111..134868407 [GRCh37] Chr11:116227321..134373617 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	copy number loss	See cases [RCV000239781]	Chr11:120615374..134868407 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	copy number loss	See cases [RCV000240237]	Chr11:119807473..134868407 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	copy number gain	not provided [RCV000767667]	Chr11:116691675..134889485 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	copy number gain	not provided [RCV000767816]	Chr11:116700253..134904063 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	copy number loss	See cases [RCV000511335]	Chr11:121416261..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1	copy number loss	See cases [RCV000240313]	Chr11:126631558..134868407 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	copy number gain	See cases [RCV000449449]	Chr11:116681007..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:125662934-134938470)x1	copy number loss	See cases [RCV000447129]	Chr11:125662934..134938470 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1	copy number loss	See cases [RCV000447077]	Chr11:119513909..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	copy number loss	See cases [RCV000445814]	Chr11:121501072..134868348 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1	copy number loss	See cases [RCV000449003]	Chr11:121559102..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1	copy number loss	See cases [RCV000448215]	Chr11:122403610..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3	copy number gain	See cases [RCV000447848]	Chr11:116684163..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	copy number gain	See cases [RCV000511146]	Chr11:122884694..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	copy number loss	See cases [RCV000511283]	Chr11:120527021..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:126762944-134938470)x1	copy number loss	See cases [RCV000511303]	Chr11:126762944..134938470 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	copy number loss	See cases [RCV000510856]	Chr11:121136603..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	copy number gain	See cases [RCV000512291]	Chr11:116681007..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:127690585-132404117)x1	copy number loss	not provided [RCV000683367]	Chr11:127690585..132404117 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh37/hg19 11q24.3-25(chr11:129072293-134938470)x1	copy number loss	not provided [RCV000683368]	Chr11:129072293..134938470 [GRCh37] Chr11:11q24.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	copy number loss	not provided [RCV000683371]	Chr11:119538664..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	copy number gain	not provided [RCV000683373]	Chr11:116681007..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
Single allele	deletion	Short stature [RCV001003892]	Chr11:114433313..131230466 [GRCh37] Chr11:11q23.2-25	likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
Single allele	duplication	Schizophrenia [RCV000754124]	Chr11:118989374..135076622 [GRCh38] Chr11:11q23.3-25	likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3	copy number gain	not provided [RCV000737686]	Chr11:116697066..134934063 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:126362042-134938470)x3	copy number gain	not provided [RCV000737697]	Chr11:126362042..134938470 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:127751691-134938470)x3	copy number gain	not provided [RCV000737699]	Chr11:127751691..134938470 [GRCh37] Chr11:11q24.2-25	benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:125366454-134938470)x1	copy number loss	not provided [RCV000750223]	Chr11:125366454..134938470 [GRCh37] Chr11:11q24.2-25	pathogenic
NM_003658.5(BARX2):c.755G>A (p.Arg252His)	single nucleotide variant	not provided [RCV000960202]	Chr11:129451317 [GRCh38] Chr11:129321212 [GRCh37] Chr11:11q24.3	benign
GRCh37/hg19 11q24.3(chr11:129060826-129712175)x3	copy number gain	See cases [RCV000790609]	Chr11:129060826..129712175 [GRCh37] Chr11:11q24.3	uncertain significance
GRCh37/hg19 11q24.2-24.3(chr11:126809705-130289168)	copy number loss	not provided [RCV000767568]	Chr11:126809705..130289168 [GRCh37] Chr11:11q24.2-24.3	pathogenic
GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)	copy number loss	11q partial monosomy syndrome [RCV000767602]	Chr11:125446101..134904063 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	copy number gain	not provided [RCV000848151]	Chr11:117830263..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	copy number loss	See cases [RCV000790567]	Chr11:120576984..134934063 [GRCh37] Chr11:11q23.3-25	pathogenic
NM_003658.5(BARX2):c.465G>A (p.Gln155=)	single nucleotide variant	not provided [RCV000888766]	Chr11:129437028 [GRCh38] Chr11:129306923 [GRCh37] Chr11:11q24.3	benign
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	copy number loss	11q partial monosomy syndrome [RCV003236728]	Chr11:120531028..134257553 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	copy number loss	not provided [RCV001006452]	Chr11:120742540..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	copy number loss	not provided [RCV001006454]	Chr11:124232608..134938470 [GRCh37] Chr11:11q24.2-25	pathogenic
Single allele	deletion	Paris-Trousseau thrombocytopenia [RCV001003843]	Chr11:124226940..134944477 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh37/hg19 11q24.3(chr11:129299871-129712175)x3	copy number gain	See cases [RCV001007445]	Chr11:129299871..129712175 [GRCh37] Chr11:11q24.3	uncertain significance
GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1	copy number loss	not provided [RCV001258504]	Chr11:125785487..134938470 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1	copy number loss	not provided [RCV001258505]	Chr11:127602115..134938470 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1	copy number loss	Syndromic anorectal malformation [RCV002286600]	Chr11:127075189..134945120 [GRCh37] Chr11:11q24.2-25	likely pathogenic
GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1	copy number loss	not provided [RCV002262373]	Chr11:128634685..134257741 [GRCh37] Chr11:11q24.3-25	pathogenic
NM_003658.5(BARX2):c.608C>T (p.Pro203Leu)	single nucleotide variant	Inborn genetic diseases [RCV003303948]	Chr11:129451170 [GRCh38] Chr11:129321065 [GRCh37] Chr11:11q24.3	uncertain significance
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	copy number loss	not provided [RCV002474497]	Chr11:122975824..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
NM_003658.5(BARX2):c.356G>C (p.Ser119Thr)	single nucleotide variant	Inborn genetic diseases [RCV002728303]	Chr11:129436919 [GRCh38] Chr11:129306814 [GRCh37] Chr11:11q24.3	uncertain significance
NM_003658.5(BARX2):c.262C>G (p.Pro88Ala)	single nucleotide variant	Inborn genetic diseases [RCV002733674]	Chr11:129436825 [GRCh38] Chr11:129306720 [GRCh37] Chr11:11q24.3	uncertain significance
NM_003658.5(BARX2):c.673A>C (p.Asn225His)	single nucleotide variant	Inborn genetic diseases [RCV002873734]	Chr11:129451235 [GRCh38] Chr11:129321130 [GRCh37] Chr11:11q24.3	uncertain significance
NM_003658.5(BARX2):c.746C>T (p.Pro249Leu)	single nucleotide variant	Inborn genetic diseases [RCV002961604]	Chr11:129451308 [GRCh38] Chr11:129321203 [GRCh37] Chr11:11q24.3	uncertain significance
NM_003658.5(BARX2):c.8G>A (p.Cys3Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002718885]	Chr11:129376043 [GRCh38] Chr11:129245938 [GRCh37] Chr11:11q24.3	uncertain significance
NM_003658.5(BARX2):c.478A>T (p.Thr160Ser)	single nucleotide variant	Inborn genetic diseases [RCV002836367]	Chr11:129437041 [GRCh38] Chr11:129306936 [GRCh37] Chr11:11q24.3	uncertain significance
Single allele	duplication	not provided [RCV003448710]	Chr11:102134973..134945611 [GRCh37] Chr11:11q22.2-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	copy number loss	not specified [RCV003986947]	Chr11:123523103..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	copy number loss	not specified [RCV003986921]	Chr11:125511834..134938470 [GRCh37] Chr11:11q24.2-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	copy number loss	not specified [RCV003986923]	Chr11:121423232..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
NM_003658.5(BARX2):c.818C>T (p.Ser273Leu)	single nucleotide variant	Inborn genetic diseases [RCV003359026]	Chr11:129451380 [GRCh38] Chr11:129321275 [GRCh37] Chr11:11q24.3	likely benign
NC_000011.9:g.104288964_134937416dup	duplication	Distal trisomy 11q [RCV001250234]	Chr11:104288964..134937416 [GRCh37] Chr11:11q22.3-25	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	968
Count of miRNA genes:	448
Interacting mature miRNAs:	501
Transcripts:	ENST00000281437, ENST00000526127, ENST00000531946, ENST00000605151
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.

Markers in Region

SHGC-108027

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	129,260,097 - 129,260,368	UniSTS	GRCh37
Build 36	11	128,765,307 - 128,765,578	RGD	NCBI36
Celera	11	126,428,826 - 126,429,097	RGD
Cytogenetic Map	11	q25	UniSTS
HuRef	11	125,211,767 - 125,212,038	UniSTS
TNG Radiation Hybrid Map	11	62074.0	UniSTS

BARX2_2111

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	129,321,032 - 129,321,893	UniSTS	GRCh37
Build 36	11	128,826,242 - 128,827,103	RGD	NCBI36
Celera	11	126,489,761 - 126,490,622	RGD
HuRef	11	125,272,701 - 125,273,562	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

243

168

113

1338

103

305

163

721

Low

870

667

173

352

414

1557

241

699

700

178

296

Below cutoff

1017

1925

773

263

1002

263

1780

1249

1759

340

780

711

1166

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_003658	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011543043	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011543044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF031924	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH008405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ243512	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022187	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP003775	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069378	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111432	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111572	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000281437 ⟹ ENSP00000281437

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	129,375,848 - 129,452,279 (+)	Ensembl

RefSeq Acc Id:

ENST00000605151

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	129,436,174 - 129,438,321 (+)	Ensembl

RefSeq Acc Id:

NM_003658 ⟹ NP_003649

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	129,375,848 - 129,452,279 (+)	NCBI
GRCh37	11	129,245,879 - 129,322,174 (+)	NCBI
Build 36	11	128,751,091 - 128,827,384 (+)	NCBI Archive
Celera	11	126,414,612 - 126,490,903 (+)	RGD
HuRef	11	125,197,559 - 125,273,843 (+)	RGD
CHM1_1	11	129,131,929 - 129,208,237 (+)	NCBI
T2T-CHM13v2.0	11	129,411,348 - 129,487,778 (+)	NCBI

Sequence:

show sequence

GCGGGTGGGTCTAGACGCGCGGCAGGCGCGCCCGCTACCCGCTCTCCTCCGCGCGCCACCCGAG
CCCCGCCGCCTCCCCAGCTGCCGGGAGCGGGGCCCAGGCCCCGCCGTCGCGCCAGCCCCGCGGC
CCCAGCGGGCCGGGCACTCGCAGCCGCGCTCGGGCCGGCGGACGCTCGCGCCGGCTCACCATGC
ACTGCCACGCCGAGCTGAGGCTGAGCTCGCCCGGCCAGCTCAAAGCAGCCAGGCGGCGCTACAA
GACTTTCATGATCGACGAGATCCTCTCCAAGGAGACCTGCGATTACTTTGAGAAACTTTCCCTC
TACTCCGTGTGCCCGTCGCTGGTCGTGCGACCCAAGCCCCTGCATTCCTGTACGGGCTCCCCTT
CCCTGCGGGCATATCCGCTCCTCTCGGTGATCACCCGCCAGCCCACTGTCATCTCCCACCTGGT
CCCTGCCACCCCGGGAATCGCCCAGGCACTGTCCTGCCACCAGGTCACCGAGGCGGTCTCTGCT
GAGGCCCCAGGGGGCGAGGCCCTAGCCAGCAGCGAGTCAGAGACGGAACAGCCCACGCCCCGAC
AGAAGAAGCCCCGCCGGAGTCGCACCATCTTCACCGAGCTGCAGCTCATGGGCCTGGAGAAGAA
ATTCCAGAAGCAGAAGTATTTGTCAACCCCAGACAGGTTGGACTTGGCTCAGTCTCTGGGACTC
ACTCAGCTGCAGGTGAAGACCTGGTATCAGAATCGCAGGATGAAATGGAAGAAAATGGTTCTTA
AAGGTGGACAGGAAGCACCCACAAAACCCAAAGGTCGCCCCAAGAAGAACTCCATCCCCACATC
AGAAGAGATTGAAGCTGAAGAGAAGATGAACAGCCAGGCCCAGGGTCAGGAGCAGCTGGAGCCC
TCTCAGGGGCAGGAGGAGCTCTGTGAAGCACAGGAACCGAAAGCACGTGATGTCCCCTTAGAGA
TGGCAGAGCCACCAGACCCGCCCCAGGAGTTGCCAATACCCTCTTCGGAACCCCCACCATTAAG
CTAAAGTAAAACCCTTTTGAGGGAAGAGGGAGACTGGGGAGAAGGGAAAAGAGAGAAGGCAGGG
AGAGTAGGGAGAGAAAACCTTCCAGCAGCCCAGTAAACTGCGGGCGAAGAGATCTACCCGTCTC
CCTCCCTCCCACAGTTACCATTGGCCTTGTCATCGCAAGCATTTGACAAAGACTTGCTTGTCTT
GGGCCTGTCACCTCCTGAAAGGCTGCTTTAGCTGTGGATGCCCTTGATTAAGGGAGAGAGCGCC
TAGGAGCTGCCTGCCCCAGCTGGGGTGACGGCTGTAGGGCTGGGTCTATGTTGCAAGCCCTATA
TCCTAGCATGCAGTGGAAAGTGCTTAGCTCTCTCCCTCCTGACCTCTGGGCAGCCAGTCATCAA
AGCAGAGAGACGTGGCGGCATGTGGGCAGCATGCCCAGGTTCCTTGCTGACTCAGCACTTATTT
CTGTAGTTTTAAAAAAGAATTTAATGTTTTTGGTTGTATTTTTTTGGGGGGGTGAGGGTGGGCA
AAAACATGGGGGTAGTTCTGAGTTGTTAGAAATGTTTCTGAATCAAGTTTGTTTGAAGACACGT
GTGCCTTTGTACCCATTATAAGATGGTCATAAGACCCAAGAACTGATAAGCTTTGGTTTTTTTT
TTGTTTTGTTTTGTTTTTTGCTTCATTTACCCATTCATGCCTAGGGTTCCATTATTGGAACCCT
AAGCTTGTGGGAGTTATTTCTATCCTACTGCTCAAGGTCATCACCAAGATCTGATTTTTCATAA
AAAACATTTGTGACCTTCGGCATAAATGGGTTAAGGTGCCATCCCTGAAACTGCAATGCAGATA
TGTTCAGATAACTTTTATTTTTTAATTAAAAATAAATCTTTCAAAAGGA

hide sequence

RefSeq Acc Id:

XM_011543043 ⟹ XP_011541345

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	129,418,794 - 129,452,279 (+)	NCBI

Sequence:

show sequence

TTTAACTATGTTGGAATGCACATCAACTGCCTGGAAGACAGAATGTCAGAAAGGAAAGTCTCTG
GCTCCCCTTCCCTGCGGGCATATCCGCTCCTCTCGGTGATCACCCGCCAGCCCACTGTCATCTC
CCACCTGGTCCCTGCCACCCCGGGAATCGCCCAGGCACTGTCCTGCCACCAGGTCACCGAGGCG
GTCTCTGCTGAGGCCCCAGGGGGCGAGGCCCTAGCCAGCAGCGAGTCAGAGACGGAACAGCCCA
CGCCCCGACAGAAGAAGCCCCGCCGGAGTCGCACCATCTTCACCGAGCTGCAGCTCATGGGCCT
GGAGAAGAAATTCCAGAAGCAGAAGTATTTGTCAACCCCAGACAGGTTGGACTTGGCTCAGTCT
CTGGGACTCACTCAGCTGCAGGTGAAGACCTGGTATCAGAATCGCAGGATGAAATGGAAGAAAA
TGGTTCTTAAAGGTGGACAGGAAGCACCCACAAAACCCAAAGGTCGCCCCAAGAAGAACTCCAT
CCCCACATCAGAAGAGATTGAAGCTGAAGAGAAGATGAACAGCCAGGCCCAGGGTCAGGAGCAG
CTGGAGCCCTCTCAGGGGCAGGAGGAGCTCTGTGAAGCACAGGAACCGAAAGCACGTGATGTCC
CCTTAGAGATGGCAGAGCCACCAGACCCGCCCCAGGAGTTGCCAATACCCTCTTCGGAACCCCC
ACCATTAAGCTAAAGTAAAACCCTTTTGAGGGAAGAGGGAGACTGGGGAGAAGGGAAAAGAGAG
AAGGCAGGGAGAGTAGGGAGAGAAAACCTTCCAGCAGCCCAGTAAACTGCGGGCGAAGAGATCT
ACCCGTCTCCCTCCCTCCCACAGTTACCATTGGCCTTGTCATCGCAAGCATTTGACAAAGACTT
GCTTGTCTTGGGCCTGTCACCTCCTGAAAGGCTGCTTTAGCTGTGGATGCCCTTGATTAAGGGA
GAGAGCGCCTAGGAGCTGCCTGCCCCAGCTGGGGTGACGGCTGTAGGGCTGGGTCTATGTTGCA
AGCCCTATATCCTAGCATGCAGTGGAAAGTGCTTAGCTCTCTCCCTCCTGACCTCTGGGCAGCC
AGTCATCAAAGCAGAGAGACGTGGCGGCATGTGGGCAGCATGCCCAGGTTCCTTGCTGACTCAG
CACTTATTTCTGTAGTTTTAAAAAAGAATTTAATGTTTTTGGTTGTATTTTTTTGGGGGGGTGA
GGGTGGGCAAAAACATGGGGGTAGTTCTGAGTTGTTAGAAATGTTTCTGAATCAAGTTTGTTTG
AAGACACGTGTGCCTTTGTACCCATTATAAGATGGTCATAAGACCCAAGAACTGATAAGCTTTG
GTTTTTTTTTTGTTTTGTTTTGTTTTTTGCTTCATTTACCCATTCATGCCTAGGGTTCCATTAT
TGGAACCCTAAGCTTGTGGGAGTTATTTCTATCCTACTGCTCAAGGTCATCACCAAGATCTGAT
TTTTCATAAAAAACATTTGTGACCTTCGGCATAAATGGGTTAAGGTGCCATCCCTGAAACTGCA
ATGCAGATATGTTCAGATAACTTTTATTTTTTAATTAAAAATAAATCTTTCAAAAGGA

hide sequence

RefSeq Acc Id:

XM_011543044 ⟹ XP_011541346

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	129,375,233 - 129,452,279 (+)	NCBI

Sequence:

show sequence

GCGGGCTGCGAGACTGCGAGTGGAGGGCTTGGGAAGCCGCGGTCTTCGGGAAACCGTCCACGCG
GGGAAGGAGAAAGGCACGGCTCCCCTTCCCTGCGGGCATATCCGCTCCTCTCGGTGATCACCCG
CCAGCCCACTGTCATCTCCCACCTGGTCCCTGCCACCCCGGGAATCGCCCAGGCACTGTCCTGC
CACCAGGTCACCGAGGCGGTCTCTGCTGAGGCCCCAGGGGGCGAGGCCCTAGCCAGCAGCGAGT
CAGAGACGGAACAGCCCACGCCCCGACAGAAGAAGCCCCGCCGGAGTCGCACCATCTTCACCGA
GCTGCAGCTCATGGGCCTGGAGAAGAAATTCCAGAAGCAGAAGTATTTGTCAACCCCAGACAGG
TTGGACTTGGCTCAGTCTCTGGGACTCACTCAGCTGCAGGTGAAGACCTGGTATCAGAATCGCA
GGATGAAATGGAAGAAAATGGTTCTTAAAGGTGGACAGGAAGCACCCACAAAACCCAAAGGTCG
CCCCAAGAAGAACTCCATCCCCACATCAGAAGAGATTGAAGCTGAAGAGAAGATGAACAGCCAG
GCCCAGGGTCAGGAGCAGCTGGAGCCCTCTCAGGGGCAGGAGGAGCTCTGTGAAGCACAGGAAC
CGAAAGCACGTGATGTCCCCTTAGAGATGGCAGAGCCACCAGACCCGCCCCAGGAGTTGCCAAT
ACCCTCTTCGGAACCCCCACCATTAAGCTAAAGTAAAACCCTTTTGAGGGAAGAGGGAGACTGG
GGAGAAGGGAAAAGAGAGAAGGCAGGGAGAGTAGGGAGAGAAAACCTTCCAGCAGCCCAGTAAA
CTGCGGGCGAAGAGATCTACCCGTCTCCCTCCCTCCCACAGTTACCATTGGCCTTGTCATCGCA
AGCATTTGACAAAGACTTGCTTGTCTTGGGCCTGTCACCTCCTGAAAGGCTGCTTTAGCTGTGG
ATGCCCTTGATTAAGGGAGAGAGCGCCTAGGAGCTGCCTGCCCCAGCTGGGGTGACGGCTGTAG
GGCTGGGTCTATGTTGCAAGCCCTATATCCTAGCATGCAGTGGAAAGTGCTTAGCTCTCTCCCT
CCTGACCTCTGGGCAGCCAGTCATCAAAGCAGAGAGACGTGGCGGCATGTGGGCAGCATGCCCA
GGTTCCTTGCTGACTCAGCACTTATTTCTGTAGTTTTAAAAAAGAATTTAATGTTTTTGGTTGT
ATTTTTTTGGGGGGGTGAGGGTGGGCAAAAACATGGGGGTAGTTCTGAGTTGTTAGAAATGTTT
CTGAATCAAGTTTGTTTGAAGACACGTGTGCCTTTGTACCCATTATAAGATGGTCATAAGACCC
AAGAACTGATAAGCTTTGGTTTTTTTTTTGTTTTGTTTTGTTTTTTGCTTCATTTACCCATTCA
TGCCTAGGGTTCCATTATTGGAACCCTAAGCTTGTGGGAGTTATTTCTATCCTACTGCTCAAGG
TCATCACCAAGATCTGATTTTTCATAAAAAACATTTGTGACCTTCGGCATAAATGGGTTAAGGT
GCCATCCCTGAAACTGCAATGCAGATATGTTCAGATAACTTTTATTTTTTAATTAAAAATAAAT
CTTTCAAAAGGA

hide sequence

RefSeq Acc Id:

XM_054370322 ⟹ XP_054226297

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	129,454,287 - 129,487,778 (+)	NCBI

RefSeq Acc Id:

XM_054370323 ⟹ XP_054226298

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	129,410,744 - 129,487,778 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_003649	(Get FASTA)	NCBI Sequence Viewer
	XP_011541345	(Get FASTA)	NCBI Sequence Viewer
	XP_011541346	(Get FASTA)	NCBI Sequence Viewer
	XP_054226297	(Get FASTA)	NCBI Sequence Viewer
	XP_054226298	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC04705	(Get FASTA)	NCBI Sequence Viewer
	AAF09453	(Get FASTA)	NCBI Sequence Viewer
	AAH69378	(Get FASTA)	NCBI Sequence Viewer
	AAI11433	(Get FASTA)	NCBI Sequence Viewer
	AAI11573	(Get FASTA)	NCBI Sequence Viewer
	CAB50736	(Get FASTA)	NCBI Sequence Viewer
	EAW67743	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000281437
	ENSP00000281437.4
GenBank Protein	Q9UMQ3	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_003649 ⟸ NM_003658

- UniProtKB:

O43518 (UniProtKB/Swiss-Prot), Q6NT51 (UniProtKB/Swiss-Prot), Q9UMQ3 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MHCHAELRLSSPGQLKAARRRYKTFMIDEILSKETCDYFEKLSLYSVCPSLVVRPKPLHSCTGS
PSLRAYPLLSVITRQPTVISHLVPATPGIAQALSCHQVTEAVSAEAPGGEALASSESETEQPTP
RQKKPRRSRTIFTELQLMGLEKKFQKQKYLSTPDRLDLAQSLGLTQLQVKTWYQNRRMKWKKMV
LKGGQEAPTKPKGRPKKNSIPTSEEIEAEEKMNSQAQGQEQLEPSQGQEELCEAQEPKARDVPL
EMAEPPDPPQELPIPSSEPPPLS

hide sequence

RefSeq Acc Id:	XP_011541346 ⟸ XM_011543044
- Peptide Label:	isoform X2
- Sequence:	show sequence MGLEKKFQKQKYLSTPDRLDLAQSLGLTQLQVKTWYQNRRMKWKKMVLKGGQEAPTKPKGRPKK NSIPTSEEIEAEEKMNSQAQGQEQLEPSQGQEELCEAQEPKARDVPLEMAEPPDPPQELPIPSS EPPPLS hide sequence

RefSeq Acc Id:

XP_011541345 ⟸ XM_011543043

- Peptide Label:

isoform X1

- Sequence:

show sequence

MHINCLEDRMSERKVSGSPSLRAYPLLSVITRQPTVISHLVPATPGIAQALSCHQVTEAVSAEA
PGGEALASSESETEQPTPRQKKPRRSRTIFTELQLMGLEKKFQKQKYLSTPDRLDLAQSLGLTQ
LQVKTWYQNRRMKWKKMVLKGGQEAPTKPKGRPKKNSIPTSEEIEAEEKMNSQAQGQEQLEPSQ
GQEELCEAQEPKARDVPLEMAEPPDPPQELPIPSSEPPPLS

hide sequence

RefSeq Acc Id:

ENSP00000281437 ⟸ ENST00000281437

RefSeq Acc Id:	XP_054226298 ⟸ XM_054370323
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054226297 ⟸ XM_054370322
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UMQ3-F1-model_v2	AlphaFold	Q9UMQ3	1-279	view protein structure

Promoters

RGD ID:

7222631

Promoter ID:

EPDNEW_H17061

Type:

initiation region

Name:

BARX2_3

Description:

BARX homeobox 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H17063 EPDNEW_H17062

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	129,375,234 - 129,375,294	EPDNEW

RGD ID:

7222635

Promoter ID:

EPDNEW_H17062

Type:

initiation region

Name:

BARX2_1

Description:

BARX homeobox 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H17061 EPDNEW_H17063

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	129,375,641 - 129,375,701	EPDNEW

RGD ID:

7222633

Promoter ID:

EPDNEW_H17063

Type:

initiation region

Name:

BARX2_2

Description:

BARX homeobox 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H17061 EPDNEW_H17062

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	129,375,848 - 129,375,908	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:956	AgrOrtholog
COSMIC	BARX2	COSMIC
Ensembl Genes	ENSG00000043039	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000281437	ENTREZGENE
	ENST00000281437.6	UniProtKB/Swiss-Prot
Gene3D-CATH	Homeodomain-like	UniProtKB/Swiss-Prot
GTEx	ENSG00000043039	GTEx
HGNC ID	HGNC:956	ENTREZGENE
Human Proteome Map	BARX2	Human Proteome Map
InterPro	Homeobox-like_sf	UniProtKB/Swiss-Prot
	Homeobox_CS	UniProtKB/Swiss-Prot
	Homeobox_dom	UniProtKB/Swiss-Prot
	Homeobox_metazoa	UniProtKB/Swiss-Prot
	HTH_motif	UniProtKB/Swiss-Prot
KEGG Report	hsa:8538	UniProtKB/Swiss-Prot
NCBI Gene	8538	ENTREZGENE
OMIM	604823	OMIM
PANTHER	BARX HOMEOBOX 2	UniProtKB/Swiss-Prot
	HOMEO BOX HB9 LIKE A-RELATED	UniProtKB/Swiss-Prot
Pfam	Homeodomain	UniProtKB/Swiss-Prot
PharmGKB	PA25260	PharmGKB
PRINTS	HOMEOBOX	UniProtKB/Swiss-Prot
	HTHREPRESSR	UniProtKB/Swiss-Prot
PROSITE	HOMEOBOX_1	UniProtKB/Swiss-Prot
	HOMEOBOX_2	UniProtKB/Swiss-Prot
SMART	HOX	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF46689	UniProtKB/Swiss-Prot
UniProt	BARX2_HUMAN	UniProtKB/Swiss-Prot
	O43518	ENTREZGENE
	Q6NT51	ENTREZGENE
	Q9UMQ3	ENTREZGENE
UniProt Secondary	O43518	UniProtKB/Swiss-Prot
	Q6NT51	UniProtKB/Swiss-Prot

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