HMX2 (H6 family homeobox 2) - Rat Genome Database

Name: HMX2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: HMX2 (H6 family homeobox 2) Homo sapiens

Analyze

Symbol:

HMX2

Name:

H6 family homeobox 2

RGD ID:

1344941

HGNC Page

HGNC:5018

Description:

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including inner ear morphogenesis; positive regulation of cell population proliferation; and positive regulation of mRNA splicing, via spliceosome. Predicted to be located in chromatin. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

H6 homeo box 2; H6L; homeo box (H6 family) 2; homeobox (H6 family) 2; homeobox protein H6 family member 2; homeobox protein HMX2; Nkx5-2

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):	Hmx2 (H6 homeobox 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Hmx2 (H6 family homeobox 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Hmx2 (H6 family homeobox 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	HMX2 (H6 family homeobox 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	HMX2 (H6 family homeobox 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Hmx2 (H6 family homeobox 2)	NCBI	Ortholog
Sus scrofa (pig):	HMX2 (H6 family homeobox 2)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	HMX2 (H6 family homeobox 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Hmx2 (H6 family homeobox 2)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Hmx3 (H6 family homeobox 3)	HGNC	PhylomeDB
Rattus norvegicus (Norway rat):	Slurp2 (secreted Ly6/Plaur domain containing 2)	HGNC	OMA
Alliance orthologs ³
Mus musculus (house mouse):	Hmx2 (H6 homeobox 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Hmx2 (H6 family homeobox 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	hmx2 (H6 family homeobox 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	mls-2	Alliance	DIOPT (OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Hmx	Alliance	DIOPT (PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	hmx2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	hmx2.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	hmx2.L	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	10	123,148,136 - 123,150,672 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	123,148,136 - 123,150,672 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	124,907,652 - 124,910,188 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	124,897,628 - 124,900,178 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	10	118,614,169 - 118,616,719 (+)	NCBI		Celera
Cytogenetic Map	10	q26.13	NCBI
HuRef	10	118,525,408 - 118,527,978 (+)	NCBI		HuRef
CHM1_1	10	125,189,354 - 125,191,904 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	124,023,154 - 124,025,690 (+)	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

High Myopia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

1-naphthyl isothiocyanate (ISO)

17beta-estradiol (EXP)

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

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

4,4'-sulfonyldiphenol (EXP,ISO)

acrylamide (ISO)

arsenite(3-) (EXP)

belinostat (EXP)

benzo[a]pyrene (EXP)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

C60 fullerene (ISO)

carbamazepine (EXP)

dorsomorphin (EXP)

entinostat (EXP)

fulvestrant (EXP)

gentamycin (ISO)

methotrexate (EXP)

niclosamide (EXP)

panobinostat (EXP)

paracetamol (ISO)

pirinixic acid (ISO)

SB 431542 (EXP)

sodium arsenite (EXP)

succimer (ISO)

trichostatin A (EXP)

triptonide (ISO)

valproic acid (EXP)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

brain development (IEA,ISO)

cell differentiation (IEA)

cell population proliferation (IEA,ISO)

epithelial cell proliferation (IEA,ISO)

inner ear morphogenesis (IEA,ISO)

nervous system development (IEA)

positive regulation of epithelial cell proliferation (IEA,ISO)

positive regulation of mRNA splicing, via spliceosome (IEA,ISO)

positive regulation of stem cell proliferation (IEA,ISO)

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA)

stem cell proliferation (IEA,ISO)

Cellular Component

chromatin (ISA)

nucleus (IBA,IEA)

Molecular Function

DNA binding (IEA)

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

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

sequence-specific double-stranded DNA binding (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

High myopia (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:7510254	PMID:7647458	PMID:9004130	PMID:12477932	PMID:15558495	PMID:19253379	PMID:19274049	PMID:21873635	PMID:28473536	PMID:33048949	PMID:33961781	PMID:34349018
PMID:34537242

Genomics

Comparative Map Data

HMX2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	123,148,136 - 123,150,672 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	123,148,136 - 123,150,672 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	124,907,652 - 124,910,188 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	124,897,628 - 124,900,178 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	10	118,614,169 - 118,616,719 (+)	NCBI		Celera
Cytogenetic Map	10	q26.13	NCBI
HuRef	10	118,525,408 - 118,527,978 (+)	NCBI		HuRef
CHM1_1	10	125,189,354 - 125,191,904 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	124,023,154 - 124,025,690 (+)	NCBI		T2T-CHM13v2.0

Hmx2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	131,150,486 - 131,159,743 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	131,150,502 - 131,159,743 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	131,548,757 - 131,558,014 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	131,548,773 - 131,558,014 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	138,697,576 - 138,700,096 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	131,339,921 - 131,347,272 (+)	NCBI		MGSCv36	mm8
Celera	7	131,359,572 - 131,362,092 (+)	NCBI		Celera
Cytogenetic Map	7	F3	NCBI
cM Map	7	74.34	NCBI

Hmx2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	195,749,284 - 195,758,347 (+)	NCBI		GRCr8
mRatBN7.2	1	186,319,110 - 186,326,771 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	186,319,110 - 186,326,771 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	194,669,263 - 194,676,924 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	201,846,872 - 201,854,533 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	194,519,959 - 194,527,620 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	203,515,605 - 203,523,266 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	203,515,609 - 203,523,358 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	210,526,870 - 210,534,573 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	191,117,643 - 191,125,304 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	184,073,654 - 184,081,315 (+)	NCBI		Celera
Cytogenetic Map	1	q41	NCBI

Hmx2
(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_004955477	1,294,472 - 1,302,505 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955477	1,294,479 - 1,302,433 (+)	NCBI	ChiLan1.0	ChiLan1.0

HMX2
(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	134,993,103 - 134,995,377 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	134,998,454 - 135,000,728 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	119,700,416 - 119,708,444 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

HMX2
(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	32,679,585 - 32,687,972 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	28	32,679,579 - 32,687,982 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	28	32,744,958 - 32,752,886 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	28	33,236,182 - 33,244,109 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	28	33,236,196 - 33,244,546 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	28	32,793,306 - 32,801,218 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	28	32,785,467 - 32,793,383 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	28	33,035,343 - 33,043,264 (+)	NCBI		UU_Cfam_GSD_1.0

Hmx2
(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	13,768,795 - 13,772,436 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936486	11,789,991 - 11,792,068 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936486	11,789,991 - 11,792,500 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HMX2
(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	132,696,380 - 132,699,544 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	132,691,108 - 132,699,477 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	144,283,993 - 144,285,818 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HMX2
(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	115,818,448 - 115,825,664 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	9	115,819,760 - 115,821,508 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	77,128,290 - 77,130,657 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hmx2
(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	23,861,756 - 23,871,804 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624737	23,862,661 - 23,871,723 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in HMX2
17 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	copy number gain	See cases [RCV000051218]	Chr10:111313099..133620674 [GRCh38] Chr10:113072857..135434178 [GRCh37] Chr10:113062847..135284168 [NCBI36] Chr10:10q25.2-26.3	pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	copy number loss	See cases [RCV000051103]	Chr10:120454430..133620674 [GRCh38] Chr10:122213942..135434178 [GRCh37] Chr10:122203932..135284168 [NCBI36] Chr10:10q26.12-26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	copy number loss	See cases [RCV000051069]	Chr10:122265252..133620674 [GRCh38] Chr10:124024767..135434178 [GRCh37] Chr10:124014757..135284168 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	copy number loss	See cases [RCV000052609]	Chr10:122826743..126730948 [GRCh38] Chr10:124586259..128419517 [GRCh37] Chr10:124576249..128409507 [NCBI36] Chr10:10q26.13-26.2	pathogenic
GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	copy number loss	See cases [RCV000052610]	Chr10:122973296..128210291 [GRCh38] Chr10:124732812..130008555 [GRCh37] Chr10:124722802..129898545 [NCBI36] Chr10:10q26.13-26.2	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
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	copy number gain	See cases [RCV000053564]	Chr10:100194215..132432797 [GRCh38] Chr10:101953972..134246301 [GRCh37] Chr10:101943962..134096291 [NCBI36] Chr10:10q24.31-26.3	pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3	copy number gain	See cases [RCV000053588]	Chr10:106925303..133620815 [GRCh38] Chr10:108685061..135434319 [GRCh37] Chr10:108675051..135284309 [NCBI36] Chr10:10q25.1-26.3	pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	copy number gain	See cases [RCV000053589]	Chr10:117866565..133554210 [GRCh38] Chr10:119626076..135367714 [GRCh37] Chr10:119616066..135217704 [NCBI36] Chr10:10q26.11-26.3	pathogenic
NM_005519.1(HMX2):c.191C>T (p.Ala64Val)	single nucleotide variant	Malignant melanoma [RCV000068845]	Chr10:123148569 [GRCh38] Chr10:124908085 [GRCh37] Chr10:124898075 [NCBI36] Chr10:10q26.13	not provided
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	copy number gain	See cases [RCV000133688]	Chr10:108102587..133620674 [GRCh38] Chr10:109862345..135434178 [GRCh37] Chr10:109852335..135284168 [NCBI36] Chr10:10q25.1-26.3	pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	copy number gain	See cases [RCV000137747]	Chr10:100600492..133622588 [GRCh38] Chr10:102360249..135436092 [GRCh37] Chr10:102350239..135286082 [NCBI36] Chr10:10q24.31-26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	copy number loss	See cases [RCV000138435]	Chr10:122881207..133620609 [GRCh38] Chr10:124640723..135434113 [GRCh37] Chr10:124630713..135284103 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	copy number loss	See cases [RCV000139344]	Chr10:120970558..133622588 [GRCh38] Chr10:122730071..135436092 [GRCh37] Chr10:122720061..135286082 [NCBI36] Chr10:10q26.12-26.3	pathogenic
GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1	copy number loss	See cases [RCV000139771]	Chr10:122143176..124358013 [GRCh38] Chr10:123902691..126046582 [GRCh37] Chr10:123892681..126036572 [NCBI36] Chr10:10q26.13	pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	copy number gain	See cases [RCV000142005]	Chr10:119707856..133613639 [GRCh38] Chr10:121467368..135427143 [GRCh37] Chr10:121457358..135277133 [NCBI36] Chr10:10q26.11-26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	copy number loss	See cases [RCV000142441]	Chr10:121588992..133620674 [GRCh38] Chr10:123348506..135434178 [GRCh37] Chr10:123338496..135284168 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	copy number loss	See cases [RCV000142737]	Chr10:121918547..133620674 [GRCh38] Chr10:123678062..135434178 [GRCh37] Chr10:123668052..135284168 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	copy number loss	See cases [RCV000240153]	Chr10:122239239..128203032 [GRCh37] Chr10:10q26.12-26.2	pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	copy number loss	See cases [RCV000203440]	Chr10:123731209..135353867 [GRCh37] Chr10:10q26.13-26.3	pathogenic\|likely pathogenic
GRCh37/hg19 10q26.13(chr10:124593422-125010666)x3	copy number gain	See cases [RCV000240344]	Chr10:124593422..125010666 [GRCh37] Chr10:10q26.13	uncertain significance
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	copy number gain	See cases [RCV000240457]	Chr10:103288313..135512075 [GRCh37] Chr10:10q24.32-26.3	pathogenic
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	copy number gain	not provided [RCV000847820]	Chr10:114544537..135427143 [GRCh37] Chr10:10q25.2-26.3	pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3	copy number gain	See cases [RCV000449169]	Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3	likely pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	copy number loss	See cases [RCV000449336]	Chr10:124147428..135370736 [GRCh37] Chr10:10q26.13-26.3	pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3	copy number gain	See cases [RCV000449386]	Chr10:104633712..135427143 [GRCh37] Chr10:10q24.32-26.3	pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1	copy number loss	See cases [RCV000446095]	Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3	pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3	copy number gain	See cases [RCV000446733]	Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3	pathogenic
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 10q25.1-26.3(chr10:106003533-135427143)x3	copy number gain	See cases [RCV000510813]	Chr10:106003533..135427143 [GRCh37] Chr10:10q25.1-26.3	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
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 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
NM_005519.2(HMX2):c.551C>G (p.Ser184Cys)	single nucleotide variant	not specified [RCV004288830]	Chr10:123149852 [GRCh38] Chr10:124909368 [GRCh37] Chr10:10q26.13	uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	copy number loss	not provided [RCV000683286]	Chr10:123019239..135427143 [GRCh37] Chr10:10q26.12-26.3	pathogenic
GRCh37/hg19 10q26.13(chr10:124858722-124916708)x1	copy number loss	not provided [RCV000683179]	Chr10:124858722..124916708 [GRCh37] Chr10:10q26.13	uncertain significance
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	copy number gain	not provided [RCV000683288]	Chr10:121269222..135427143 [GRCh37] Chr10:10q26.11-26.3	pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	copy number loss	not provided [RCV000683287]	Chr10:122509781..135427143 [GRCh37] Chr10:10q26.12-26.3	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 10q24.33-26.3(chr10:105613040-135427143)x3	copy number gain	not provided [RCV000683290]	Chr10:105613040..135427143 [GRCh37] Chr10:10q24.33-26.3	pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1	copy number loss	not provided [RCV000737305]	Chr10:122443197..135477883 [GRCh37] Chr10:10q26.12-26.3	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
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
NM_005519.2(HMX2):c.665C>G (p.Ala222Gly)	single nucleotide variant	not provided [RCV000959892]	Chr10:123149966 [GRCh38] Chr10:124909482 [GRCh37] Chr10:10q26.13	benign
NM_005519.2(HMX2):c.303C>A (p.Gly101=)	single nucleotide variant	not provided [RCV000924674]	Chr10:123149604 [GRCh38] Chr10:124909120 [GRCh37] Chr10:10q26.13	likely benign
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	copy number loss	Distal 10q deletion syndrome [RCV000767564]	Chr10:117024753..124942806 [GRCh37] Chr10:10q25.3-26.13	pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	copy number gain	not provided [RCV000767665]	Chr10:110022170..135439095 [GRCh37] Chr10:10q25.1-26.3	pathogenic
NM_005519.2(HMX2):c.579A>G (p.Val193=)	single nucleotide variant	not provided [RCV000924675]	Chr10:123149880 [GRCh38] Chr10:124909396 [GRCh37] Chr10:10q26.13	likely benign
NM_005519.2(HMX2):c.571A>G (p.Thr191Ala)	single nucleotide variant	not specified [RCV004304345]	Chr10:123149872 [GRCh38] Chr10:124909388 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.269-1G>A	single nucleotide variant	High myopia [RCV000785721]	Chr10:123149569 [GRCh38] Chr10:124909085 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.648C>G (p.Asn216Lys)	single nucleotide variant	not specified [RCV004292116]	Chr10:123149949 [GRCh38] Chr10:124909465 [GRCh37] Chr10:10q26.13	uncertain significance
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	copy number gain	not provided [RCV001006356]	Chr10:119996339..135427143 [GRCh37] Chr10:10q26.11-26.3	pathogenic
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	copy number gain	not provided [RCV001537903]	Chr10:118247181..135435319 [GRCh37] Chr10:10q25.3-26.3	pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	copy number loss	See cases [RCV001526488]	Chr10:122785023..135457222 [GRCh37] Chr10:10q26.12-26.3	pathogenic
NM_005519.2(HMX2):c.612G>C (p.Trp204Cys)	single nucleotide variant	not specified [RCV004259569]	Chr10:123149913 [GRCh38] Chr10:124909429 [GRCh37] Chr10:10q26.13	uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	copy number gain	not specified [RCV002052891]	Chr10:108455687..135427143 [GRCh37] Chr10:10q25.1-26.3	pathogenic
GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	copy number loss	not specified [RCV002052892]	Chr10:117019650..125217066 [GRCh37] Chr10:10q25.3-26.13	pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	copy number gain	not specified [RCV002052894]	Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3	likely pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	copy number loss	not specified [RCV002052895]	Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3	pathogenic
GRCh37/hg19 10q26.13(chr10:124252660-125447562)x1	copy number loss	not provided [RCV002472737]	Chr10:124252660..125447562 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.803A>G (p.Tyr268Cys)	single nucleotide variant	not specified [RCV004101756]	Chr10:123150104 [GRCh38] Chr10:124909620 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.644C>T (p.Ala215Val)	single nucleotide variant	not specified [RCV004099772]	Chr10:123149945 [GRCh38] Chr10:124909461 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.488A>G (p.Gln163Arg)	single nucleotide variant	not specified [RCV004097346]	Chr10:123149789 [GRCh38] Chr10:124909305 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.287G>T (p.Gly96Val)	single nucleotide variant	not specified [RCV004123096]	Chr10:123149588 [GRCh38] Chr10:124909104 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.746C>T (p.Pro249Leu)	single nucleotide variant	not specified [RCV004090403]	Chr10:123150047 [GRCh38] Chr10:124909563 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.601C>T (p.Arg201Cys)	single nucleotide variant	not specified [RCV004277933]	Chr10:123149902 [GRCh38] Chr10:124909418 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.151T>A (p.Ser51Thr)	single nucleotide variant	not specified [RCV004279727]	Chr10:123148529 [GRCh38] Chr10:124908045 [GRCh37] Chr10:10q26.13	uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	copy number loss	not provided [RCV003222684]	Chr10:122610933..135439810 [GRCh37] Chr10:10q26.12-26.3	pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	copy number gain	Distal trisomy 10q [RCV003319593]	Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3	pathogenic
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
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	copy number loss	Distal 10q deletion syndrome [RCV003319590]	Chr10:123477898..135427143 [GRCh37] Chr10:10q26.13-26.3	pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	copy number loss	Distal 10q deletion syndrome [RCV003329543]	Chr10:124895517..135440296 [GRCh37] Chr10:10q26.13-26.3	pathogenic
NM_005519.2(HMX2):c.731G>A (p.Arg244His)	single nucleotide variant	not specified [RCV004353478]	Chr10:123150032 [GRCh38] Chr10:124909548 [GRCh37] Chr10:10q26.13	uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	copy number gain	Distal trisomy 10q [RCV003458955]	Chr10:111378692..135427143 [GRCh37] Chr10:10q25.1-26.3	pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	copy number gain	not provided [RCV003484817]	Chr10:111447991..133435388 [GRCh37] Chr10:10q25.1-26.3	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
GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	copy number loss	not provided [RCV004442821]	Chr10:122331280..135426386 [GRCh37] Chr10:10q26.12-26.3	pathogenic
NM_005519.2(HMX2):c.342G>A (p.Ser114=)	single nucleotide variant	HMX2-related disorder [RCV003954329]	Chr10:123149643 [GRCh38] Chr10:124909159 [GRCh37] Chr10:10q26.13	likely benign
NM_005519.2(HMX2):c.233C>T (p.Pro78Leu)	single nucleotide variant	not specified [RCV004399737]	Chr10:123148611 [GRCh38] Chr10:124908127 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.275C>G (p.Pro92Arg)	single nucleotide variant	not specified [RCV004399738]	Chr10:123149576 [GRCh38] Chr10:124909092 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.349A>G (p.Lys117Glu)	single nucleotide variant	not specified [RCV004399739]	Chr10:123149650 [GRCh38] Chr10:124909166 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.439G>T (p.Ala147Ser)	single nucleotide variant	not specified [RCV004399740]	Chr10:123149740 [GRCh38] Chr10:124909256 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.455C>T (p.Thr152Met)	single nucleotide variant	not specified [RCV004399741]	Chr10:123149756 [GRCh38] Chr10:124909272 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.658G>C (p.Ala220Pro)	single nucleotide variant	not specified [RCV004399742]	Chr10:123149959 [GRCh38] Chr10:124909475 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.797A>G (p.Asn266Ser)	single nucleotide variant	not specified [RCV004399743]	Chr10:123150098 [GRCh38] Chr10:124909614 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.509T>G (p.Met170Arg)	single nucleotide variant	not specified [RCV004632898]	Chr10:123149810 [GRCh38] Chr10:124909326 [GRCh37] Chr10:10q26.13	uncertain significance
NM_005519.2(HMX2):c.433G>A (p.Ala145Thr)	single nucleotide variant	not specified [RCV004626228]	Chr10:123149734 [GRCh38] Chr10:124909250 [GRCh37] Chr10:10q26.13	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	284
Count of miRNA genes:	257
Interacting mature miRNAs:	269
Transcripts:	ENST00000339992
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.

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_005519	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005269743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC012391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC132758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ929484	(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
	KT584509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000339992 ⟹ ENSP00000341108

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	123,148,136 - 123,150,672 (+)	Ensembl

RefSeq Acc Id:

NM_005519 ⟹ NP_005510

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	123,148,136 - 123,150,672 (+)	NCBI
GRCh37	10	124,902,006 - 124,910,188 (+)	NCBI
Build 36	10	124,897,628 - 124,900,178 (+)	NCBI Archive
Celera	10	118,614,169 - 118,616,719 (+)	RGD
HuRef	10	118,525,408 - 118,527,978 (+)	ENTREZGENE
CHM1_1	10	125,189,354 - 125,191,904 (+)	NCBI
T2T-CHM13v2.0	10	124,023,154 - 124,025,690 (+)	NCBI

Sequence:

show sequence

GCATTTGCACCGGGGCTGGGCGGGCGCACCCAGAGCCAGGCGGGCAGGAACCCCTGCGCAGCCA
TCCGGTGCCTGCATGTCCCTGGCGCGGAAGGGACGCCTCACCAGCCTCGGCGCCCCCTCCCCCT
AGATTTCCTCCCCGCCCCTCCCCACTGCCTGCCTGCTGCACCACCTTCCACCCAGATCACCCAG
ATCGTCTCTAAAGGGAGTTCTTGGTTTCCTTCGATTTCTTATGAACCCAGGATGGGCAGCAAAG
AAGATGCGGGCAAGGGGTGTCCGGCGGCCGGTGGCGTCTCCAGCTTCACCATCCAGTCCATCCT
GGGCGGGGGCCCCTCGGAGGCACCGCGGGAGCCCGTCGGCTGGCCAGCCAGGAAGCGCAGCCTG
TCCGTGTCCTCGGAGGAGGAGGAGCCGGACGACGGCTGGAAGGCGCCCGCCTGCTTCTGCCCAG
ACCAGCACGGCCCTAAGGAGCAGGGCCCCAAGCACCATCCCCCCATCCCTTTTCCTTGCCTGGG
TACCCCCAAGGGCAGCGGAGGCTCGGGCCCGGGCGGCTTGGAGCGCACGCCTTTCCTCTCTCCT
TCGCACTCGGACTTTAAAGAAGAGAAAGAGAGGCTCCTGCCCGCGGGCTCGCCCTCGCCGGGGT
CCGAGCGGCCGCGGGACGGCGGCGCTGAGCGGCAGGCCGGCGCGGCCAAGAAGAAGACGCGCAC
CGTCTTTTCGCGCAGCCAGGTGTACCAGCTCGAGTCCACCTTCGACATGAAGCGCTACCTGAGC
AGCTCGGAGCGCGCCTGCCTCGCCTCCAGCCTGCAGCTCACGGAGACCCAGGTAAAGACTTGGT
TCCAGAACCGCCGCAACAAGTGGAAGCGGCAGCTCTCGGCTGAGCTGGAGGCGGCCAACATGGC
GCACGCGTCGGCGCAGACTCTGGTGAGCATGCCGCTGGTGTTCCGGGACAGTTCGCTGCTGCGC
GTGCCGGTGCCGCGCTCGCTCGCCTTTCCCGCGCCGCTCTACTACCCGGGAAGCAACCTCTCGG
CCTTACCTCTCTACAACCTATACAACAAGCTCGACTACTGACCGGCCCGCCGCCCCGCGCCGCC
CCCAGCTGCCCGCAGAGCCGGGCGCGTACTGTACTGTAAGCAGGGCTCCGGAGCAAGGCGGCGT
GTTTCCAGAAATATGAAGAAATACACCATGTGTATTCATTAGCTCTTATTTATGGTCTCTGCCC
TACTTTTTGTTTTGATTGTTTCGGGTATTTATTGGCATTCCCTAAGTCAGAGAGCCTGCTTCCT
ACCTAGACCGAACCAGTACGCTTTGAAAACCATTCGGAGTGAGATGTTCTCGGGTGGTGGTGGG
AAAGGGAGTTTTGGCCAGACAGGCTGTGGTTGGTAGGGAAAAAAATCAGGAAAACACCTACAAA
ACCAGGTACACTCCTCCCCCATATATACACCTGTATATATGTACATGCATACACGCTCGGCCAA
GCCAGGCCCTCAGAGGCTTTGGACAATTACTAAATTGCTTCTTTTCGTTTCCCTCATCCCGAGG
ATGGTAGGGACGAAAAGGGGAGAGTTCAGATCTGTAAATATTTTTAAAAAGAAAAAAAAATAAA
ACATTTTAAACATC

hide sequence

Protein Sequences


Protein RefSeqs	NP_005510	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A2RU54	(Get FASTA)	NCBI Sequence Viewer
	AAI32759	(Get FASTA)	NCBI Sequence Viewer
	AAI37140	(Get FASTA)	NCBI Sequence Viewer
	EAW49288	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000341108
	ENSP00000341108.3

RefSeq Acc Id:

NP_005510 ⟸ NM_005519

- UniProtKB:

B2RNV5 (UniProtKB/Swiss-Prot), A2RU54 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MGSKEDAGKGCPAAGGVSSFTIQSILGGGPSEAPREPVGWPARKRSLSVSSEEEEPDDGWKAPA
CFCPDQHGPKEQGPKHHPPIPFPCLGTPKGSGGSGPGGLERTPFLSPSHSDFKEEKERLLPAGS
PSPGSERPRDGGAERQAGAAKKKTRTVFSRSQVYQLESTFDMKRYLSSSERACLASSLQLTETQ
VKTWFQNRRNKWKRQLSAELEAANMAHASAQTLVSMPLVFRDSSLLRVPVPRSLAFPAPLYYPG
SNLSALPLYNLYNKLDY

hide sequence

Ensembl Acc Id:

ENSP00000341108 ⟸ ENST00000339992

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A2RU54-F1-model_v2	AlphaFold	A2RU54	1-273	view protein structure

Promoters

RGD ID:

7218895

Promoter ID:

EPDNEW_H15193

Type:

multiple initiation site

Name:

HMX2_2

Description:

H6 family homeobox 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H15194

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	123,142,401 - 123,142,461	EPDNEW

RGD ID:

7218897

Promoter ID:

EPDNEW_H15194

Type:

initiation region

Name:

HMX2_1

Description:

H6 family homeobox 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H15193

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	123,148,104 - 123,148,164	EPDNEW

RGD ID:

6787757

Promoter ID:

HG_KWN:11516

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, K562, Lymphoblastoid, NB4

Transcripts:

NM_005519

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	124,897,359 - 124,897,859 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:5018	AgrOrtholog
COSMIC	HMX2	COSMIC
Ensembl Genes	ENSG00000188816	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000339992	ENTREZGENE
	ENST00000339992.4	UniProtKB/Swiss-Prot
Gene3D-CATH	Homeodomain-like	UniProtKB/Swiss-Prot
GTEx	ENSG00000188816	GTEx
HGNC ID	HGNC:5018	ENTREZGENE
Human Proteome Map	HMX2	Human Proteome Map
InterPro	HMX_Homeobox_TF	UniProtKB/Swiss-Prot
	Homeobox-like_sf	UniProtKB/Swiss-Prot
	Homeobox_CS	UniProtKB/Swiss-Prot
	Homeobox_dom	UniProtKB/Swiss-Prot
	Homeobox_metazoa	UniProtKB/Swiss-Prot
KEGG Report	hsa:3167	UniProtKB/Swiss-Prot
NCBI Gene	3167	ENTREZGENE
OMIM	600647	OMIM
PANTHER	HOMEOBOX PROTEIN HMX	UniProtKB/Swiss-Prot
	HOMEOBOX PROTEIN HMX2	UniProtKB/Swiss-Prot
Pfam	Homeodomain	UniProtKB/Swiss-Prot
PharmGKB	PA29345	PharmGKB
PRINTS	HOMEOBOX	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	A2RU54	ENTREZGENE
	B2RNV5	ENTREZGENE
	HMX2_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B2RNV5	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