UXS1 (UDP-glucuronate decarboxylase 1)

Gene: UXS1 (UDP-glucuronate decarboxylase 1) Homo sapiens

Analyze

Symbol:

UXS1

Name:

UDP-glucuronate decarboxylase 1

RGD ID:

735996

HGNC Page

HGNC:17729

Description:

Enables NAD+ binding activity; UDP-glucuronate decarboxylase activity; and protein homodimerization activity. Involved in UDP-D-xylose biosynthetic process. Located in extracellular exosome. Part of catalytic complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ23591; hUXS; hUXS1; SDR6E1; short chain dehydrogenase/reductase family 6E, member 12; UDP-glucuronic acid decarboxylase 1; UGD; UXS-1

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):	Uxs1 (UDP-glucuronate decarboxylase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Uxs1 (UDP-glucuronate decarboxylase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Uxs1 (UDP-glucuronate decarboxylase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	UXS1 (UDP-glucuronate decarboxylase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	UXS1 (UDP-glucuronate decarboxylase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Uxs1 (UDP-glucuronate decarboxylase 1)	NCBI	Ortholog
Sus scrofa (pig):	UXS1 (UDP-glucuronate decarboxylase 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	UXS1 (UDP-glucuronate decarboxylase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Uxs1 (UDP-glucuronate decarboxylase 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Uxs1 (UDP-glucuronate decarboxylase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Uxs1 (UDP-glucuronate decarboxylase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	uxs1 (UDP-glucuronate decarboxylase 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	sqv-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Uxs	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	uxs1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	uxs1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	uxs1.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	2	106,093,311 - 106,194,301 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	106,093,308 - 106,194,301 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	106,709,767 - 106,810,757 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	106,076,191 - 106,177,227 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	106,168,277 - 106,269,313	NCBI
Celera	2	100,910,185 - 101,011,254 (-)	NCBI		Celera
Cytogenetic Map	2	q12.2	NCBI
HuRef	2	100,479,737 - 100,580,558 (-)	NCBI		HuRef
CHM1_1	2	106,714,842 - 106,815,643 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	106,554,193 - 106,655,255 (-)	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

Craniofacial Abnormalities (EXP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

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

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

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

4,4'-diaminodiphenylmethane (ISO)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

amitrole (ISO)

ammonium chloride (ISO)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

bilirubin IXalpha (EXP)

bisphenol A (EXP,ISO)

carbon nanotube (ISO)

cocaine (ISO)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

doxorubicin (EXP)

dTDP (EXP)

ethanol (ISO)

finasteride (ISO)

fipronil (ISO)

flavonoids (ISO)

flutamide (ISO)

fulvestrant (EXP)

ivermectin (EXP)

lead diacetate (ISO)

methimazole (ISO)

NAD zwitterion (EXP)

NAD(+) (EXP)

ozone (ISO)

paracetamol (EXP)

PCB138 (ISO)

pentachlorophenol (ISO)

pirinixic acid (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

sodium arsenite (EXP)

sulfadimethoxine (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

tibolone (EXP)

titanium dioxide (ISO)

triptonide (ISO)

UDP-alpha-D-galactose (EXP)

UDP-alpha-D-glucose (EXP)

UDP-alpha-D-glucuronic acid (EXP)

UDP-D-galactose (EXP)

UDP-D-glucose (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

D-xylose metabolic process (IEA)

UDP-D-xylose biosynthetic process (IDA,IEA)

Cellular Component

catalytic complex (IDA)

cytoplasm (IBA,IEA)

extracellular exosome (HDA)

Golgi apparatus (IEA)

Golgi cisterna membrane (IEA)

membrane (IEA)

Molecular Function

carboxy-lyase activity (IEA)

identical protein binding (IPI)

lyase activity (IEA)

NAD+ binding (IBA,IDA,IEA)

protein homodimerization activity (IDA)

UDP-glucuronate decarboxylase activity (IBA,IDA,IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

amino sugar metabolic pathway (IEA)

galactokinase deficiency pathway (EXP)

GALE deficiency pathway (EXP)

nucleotide sugar metabolic pathway (EXP,IEA)

starch and sucrose metabolic pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
2.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:11877387	PMID:12391314	PMID:12477932	PMID:12975309	PMID:14702039	PMID:15489334	PMID:15815621	PMID:16303743	PMID:16344560	PMID:19027726	PMID:19028698
PMID:19199708	PMID:19913121	PMID:20379614	PMID:20628086	PMID:20877624	PMID:21294126	PMID:21653829	PMID:21873635	PMID:22810237	PMID:23072385	PMID:23656592	PMID:25521717
PMID:26186194	PMID:27503909	PMID:27609421	PMID:28514442	PMID:28611215	PMID:30021884	PMID:30572598	PMID:31527615	PMID:32513696	PMID:33087821	PMID:33961781	PMID:34373451
PMID:35271311	PMID:35337019	PMID:35696571	PMID:35944360	PMID:36215168	PMID:38030856

Genomics

Comparative Map Data

UXS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	106,093,308 - 106,194,301 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	106,709,767 - 106,810,757 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	106,076,191 - 106,177,227 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	106,168,277 - 106,269,313	NCBI
Celera	2	100,910,185 - 101,011,254 (-)	NCBI		Celera
Cytogenetic Map	2	q12.2	NCBI
HuRef	2	100,479,737 - 100,580,558 (-)	NCBI		HuRef
CHM1_1	2	106,714,842 - 106,815,643 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	106,554,193 - 106,655,255 (-)	NCBI		T2T-CHM13v2.0

Uxs1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	43,786,121 - 43,866,999 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	43,786,126 - 43,866,960 (-)	Ensembl		GRCm39 Ensembl
GRCm38	1	43,746,961 - 43,827,839 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	43,746,966 - 43,827,800 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	43,807,076 - 43,884,553 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	43,693,833 - 43,772,294 (-)	NCBI		MGSCv36	mm8
Celera	1	44,100,573 - 44,177,690 (-)	NCBI		Celera
Cytogenetic Map	1	C1.1	NCBI
cM Map	1	23.46	NCBI

Uxs1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	9	740,929 - 818,310 (+)	NCBI		GRCr8
mRatBN7.2	9	653,740 - 731,121 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	9	653,659 - 756,334 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	9	1,101,032 - 1,178,186 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	9	6,448,086 - 6,525,417 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	9	5,338,604 - 5,415,805 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	9	11,165,006 - 11,240,329 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	9	11,164,715 - 11,339,790 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	9	10,150,134 - 10,226,955 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	9	7,775,435 - 7,852,399 (-)	NCBI		Celera
Cytogenetic Map	9	q11	NCBI

Uxs1
(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_004955470	10,659,520 - 10,706,269 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955470	10,661,210 - 10,706,504 (-)	NCBI	ChiLan1.0	ChiLan1.0

UXS1
(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	21,539,772 - 21,658,545 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	21,542,537 - 21,660,161 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	95,652,107 - 95,770,022 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	107,168,081 - 107,234,626 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	107,168,309 - 107,234,632 (-)	Ensembl	panpan1.1		panPan2

UXS1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	37,342,675 - 37,407,725 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	37,342,746 - 37,407,252 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	37,238,647 - 37,332,207 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	38,164,639 - 38,257,518 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	38,164,685 - 38,257,471 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	37,896,777 - 37,989,649 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	38,173,540 - 38,266,403 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	38,367,280 - 38,460,904 (+)	NCBI		UU_Cfam_GSD_1.0

Uxs1
(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	92,409,779 - 92,504,443 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936729	4,916 - 99,818 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936729	5,056 - 99,755 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

UXS1
(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	48,870,948 - 48,940,721 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	48,871,036 - 48,940,736 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	51,082,501 - 51,149,409 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

UXS1
(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	9,692,449 - 9,808,837 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	9,713,123 - 9,808,764 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	177,415,766 - 177,532,870 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Uxs1
(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_004624749	9,969,492 - 10,021,913 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624749	9,969,500 - 10,021,931 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in UXS1
24 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	copy number gain	See cases [RCV000050836]	Chr2:100378510..108472871 [GRCh38] Chr2:100994972..109089327 [GRCh37] Chr2:100361404..108455759 [NCBI36] Chr2:2q11.2-12.3	pathogenic
GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3	copy number gain	See cases [RCV000052691]	Chr2:105828398..108080417 [GRCh38] Chr2:106444854..108696873 [GRCh37] Chr2:105811286..108063305 [NCBI36] Chr2:2q12.2-12.3	uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	copy number gain	See cases [RCV000052947]	Chr2:97672522..110211318 [GRCh38] Chr2:98288985..110968895 [GRCh37] Chr2:97655417..110326184 [NCBI36] Chr2:2q11.2-13	pathogenic
GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	copy number loss	See cases [RCV000135282]	Chr2:104381722..107312459 [GRCh38] Chr2:104998180..107928915 [GRCh37] Chr2:104364612..107295347 [NCBI36] Chr2:2q12.1-12.3	likely pathogenic
GRCh38/hg38 2q12.1-12.2(chr2:105239034-106152100)x3	copy number gain	See cases [RCV000135475]	Chr2:105239034..106152100 [GRCh38] Chr2:105855491..106768556 [GRCh37] Chr2:105221923..106134988 [NCBI36] Chr2:2q12.1-12.2	benign
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	copy number gain	See cases [RCV000138645]	Chr2:101710825..110791418 [GRCh38] Chr2:102327287..111548995 [GRCh37] Chr2:101693719..111265466 [NCBI36] Chr2:2q11.2-13	pathogenic
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	copy number gain	See cases [RCV000141075]	Chr2:94678532..110602409 [GRCh38] Chr2:95344257..111359986 [GRCh37] Chr2:94707984..111076455 [NCBI36] Chr2:2q11.1-13	pathogenic
GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	copy number gain	See cases [RCV000141445]	Chr2:100478285..106498909 [GRCh38] Chr2:101094747..107115365 [GRCh37] Chr2:100461179..106481797 [NCBI36] Chr2:2q11.2-12.2	uncertain significance
GRCh38/hg38 2q12.2-12.3(chr2:106170872-106809420)x3	copy number gain	See cases [RCV000142302]	Chr2:106170872..106809420 [GRCh38] Chr2:106787328..107425876 [GRCh37] Chr2:106153760..106792308 [NCBI36] Chr2:2q12.2-12.3	uncertain significance
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	copy number loss	See cases [RCV000240053]	Chr2:106423310..115054828 [GRCh37] Chr2:2q12.2-14.1	pathogenic
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 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 2q11.1-12.3(chr2:95529039-108518266)	copy number gain	See cases [RCV000449270]	Chr2:95529039..108518266 [GRCh37] Chr2:2q11.1-12.3	pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4	copy number gain	See cases [RCV000446842]	Chr2:95327499..111370025 [GRCh37] Chr2:2q11.1-13	pathogenic
GRCh37/hg19 2q12.2(chr2:106791392-107425876)x3	copy number gain	See cases [RCV000448657]	Chr2:106791392..107425876 [GRCh37] Chr2:2q12.2	uncertain significance
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 2q12.2(chr2:106794872-107014384)x1	copy number loss	See cases [RCV000511743]	Chr2:106794872..107014384 [GRCh37] Chr2:2q12.2	likely benign
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
GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	copy number gain	See cases [RCV000511158]	Chr2:95518497..107186127 [GRCh37] Chr2:2q11.1-12.2	uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436]	Chr2:104172062..168223828 [GRCh37] Chr2:2q12.1-24.3	drug response
GRCh37/hg19 2q12.2(chr2:106788511-107425876)x3	copy number gain	not provided [RCV000682095]	Chr2:106788511..107425876 [GRCh37] Chr2:2q12.2	uncertain significance
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	copy number gain	not provided [RCV000682168]	Chr2:96353030..114045463 [GRCh37] Chr2:2q11.1-13	pathogenic
Single allele	deletion	not provided [RCV000714264]	Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3	likely pathogenic
GRCh37/hg19 2q12.2(chr2:106547252-106992981)x3	copy number gain	not provided [RCV001005301]	Chr2:106547252..106992981 [GRCh37] Chr2:2q12.2	uncertain significance
GRCh37/hg19 2q12.2-12.3(chr2:106596090-107516533)x3	copy number gain	not provided [RCV000848935]	Chr2:106596090..107516533 [GRCh37] Chr2:2q12.2-12.3	uncertain significance
GRCh37/hg19 2q12.1-12.2(chr2:102917327-106755564)x1	copy number loss	not provided [RCV000848959]	Chr2:102917327..106755564 [GRCh37] Chr2:2q12.1-12.2	uncertain significance
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 2q12.2(chr2:106791212-107425876)x3	copy number gain	not provided [RCV001827802]	Chr2:106791212..107425876 [GRCh37] Chr2:2q12.2	uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	copy number loss	See cases [RCV002287563]	Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13	pathogenic
NM_001253875.2(UXS1):c.762A>C (p.Glu254Asp)	single nucleotide variant	Inborn genetic diseases [RCV002969282]	Chr2:106112763 [GRCh38] Chr2:106729219 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.925G>A (p.Asp309Asn)	single nucleotide variant	Inborn genetic diseases [RCV002732109]	Chr2:106101117 [GRCh38] Chr2:106717573 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.1255A>C (p.Lys419Gln)	single nucleotide variant	Inborn genetic diseases [RCV002778085]	Chr2:106094049 [GRCh38] Chr2:106710505 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.697C>T (p.Arg233Trp)	single nucleotide variant	Inborn genetic diseases [RCV002782270]	Chr2:106123032 [GRCh38] Chr2:106739488 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.1268G>A (p.Arg423His)	single nucleotide variant	Inborn genetic diseases [RCV002745031]	Chr2:106094036 [GRCh38] Chr2:106710492 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.1004C>G (p.Thr335Arg)	single nucleotide variant	Inborn genetic diseases [RCV002802549]	Chr2:106098754 [GRCh38] Chr2:106715210 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.952A>G (p.Met318Val)	single nucleotide variant	Inborn genetic diseases [RCV002959685]	Chr2:106101090 [GRCh38] Chr2:106717546 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.151A>G (p.Asn51Asp)	single nucleotide variant	Inborn genetic diseases [RCV002792492]	Chr2:106164771 [GRCh38] Chr2:106781227 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.602G>A (p.Arg201His)	single nucleotide variant	Inborn genetic diseases [RCV002713879]	Chr2:106125655 [GRCh38] Chr2:106742111 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.35C>T (p.Ala12Val)	single nucleotide variant	Inborn genetic diseases [RCV002718842]	Chr2:106194207 [GRCh38] Chr2:106810663 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.601C>T (p.Arg201Cys)	single nucleotide variant	Inborn genetic diseases [RCV002677371]	Chr2:106125656 [GRCh38] Chr2:106742112 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.400G>A (p.Val134Met)	single nucleotide variant	Inborn genetic diseases [RCV003210340]	Chr2:106145262 [GRCh38] Chr2:106761718 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.184G>C (p.Glu62Gln)	single nucleotide variant	Inborn genetic diseases [RCV003218406]	Chr2:106164738 [GRCh38] Chr2:106781194 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.809G>A (p.Arg270His)	single nucleotide variant	Inborn genetic diseases [RCV003191932]	Chr2:106112716 [GRCh38] Chr2:106729172 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.5T>C (p.Val2Ala)	single nucleotide variant	Inborn genetic diseases [RCV003381281]	Chr2:106194237 [GRCh38] Chr2:106810693 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.550A>G (p.Asn184Asp)	single nucleotide variant	Inborn genetic diseases [RCV003371859]	Chr2:106129701 [GRCh38] Chr2:106746157 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.138G>C (p.Arg46Ser)	single nucleotide variant	Inborn genetic diseases [RCV003381964]	Chr2:106164784 [GRCh38] Chr2:106781240 [GRCh37] Chr2:2q12.2	uncertain significance
NM_001253875.2(UXS1):c.607C>G (p.Leu203Val)	single nucleotide variant	Inborn genetic diseases [RCV003366033]	Chr2:106125650 [GRCh38] Chr2:106742106 [GRCh37] Chr2:2q12.2	uncertain significance
GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	copy number loss	not specified [RCV003986380]	Chr2:106755586..134302739 [GRCh37] Chr2:2q12.2-21.2	pathogenic
GRCh37/hg19 2q12.1-12.2(chr2:105674582-106762678)x1	copy number loss	not specified [RCV003986360]	Chr2:105674582..106762678 [GRCh37] Chr2:2q12.1-12.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2767
Count of miRNA genes:	945
Interacting mature miRNAs:	1128
Transcripts:	ENST00000283148, ENST00000409032, ENST00000409501, ENST00000416298, ENST00000428048, ENST00000436241, ENST00000441952, ENST00000444193, ENST00000457835, ENST00000470053, ENST00000473338, ENST00000474920, ENST00000479621, ENST00000479774, ENST00000483426, ENST00000497604, ENST00000540130
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

RH36460

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	106,804,626 - 106,804,858	UniSTS	GRCh37
Build 36	2	106,171,058 - 106,171,290	RGD	NCBI36
Celera	2	101,005,083 - 101,005,315	RGD
Cytogenetic Map	2	q12.2	UniSTS
HuRef	2	100,574,425 - 100,574,657	UniSTS
GeneMap99-GB4 RH Map	2	366.75	UniSTS
NCBI RH Map	2	786.5	UniSTS

RH70063

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	106,710,129 - 106,710,334	UniSTS	GRCh37
Build 36	2	106,076,561 - 106,076,766	RGD	NCBI36
Celera	2	100,910,555 - 100,910,760	RGD
Cytogenetic Map	2	q12.2	UniSTS
HuRef	2	100,480,107 - 100,480,312	UniSTS
GeneMap99-GB4 RH Map	2	366.65	UniSTS
NCBI RH Map	2	785.4	UniSTS

RH26280

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	106,709,873 - 106,710,025	UniSTS	GRCh37
Build 36	2	106,076,305 - 106,076,457	RGD	NCBI36
Celera	2	100,910,299 - 100,910,451	RGD
Cytogenetic Map	2	q12.2	UniSTS
HuRef	2	100,479,851 - 100,480,003	UniSTS

SHGC-83592

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	106,756,397 - 106,756,741	UniSTS	GRCh37
Build 36	2	106,122,829 - 106,123,173	RGD	NCBI36
Celera	2	100,956,819 - 100,957,163	RGD
Cytogenetic Map	2	q12.2	UniSTS
HuRef	2	100,526,170 - 100,526,514	UniSTS
TNG Radiation Hybrid Map	2	62306.0	UniSTS

SHGC-107402

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	106,779,392 - 106,779,730	UniSTS	GRCh37
Build 36	2	106,145,824 - 106,146,162	RGD	NCBI36
Celera	2	100,979,815 - 100,980,153	RGD
Cytogenetic Map	2	q12.2	UniSTS
HuRef	2	100,549,160 - 100,549,498	UniSTS
TNG Radiation Hybrid Map	2	62299.0	UniSTS

SHGC-142052

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	106,795,478 - 106,795,750	UniSTS	GRCh37
Build 36	2	106,161,910 - 106,162,182	RGD	NCBI36
Celera	2	100,995,928 - 100,996,200	RGD
Cytogenetic Map	2	q12.2	UniSTS
HuRef	2	100,565,272 - 100,565,544	UniSTS
TNG Radiation Hybrid Map	2	62253.0	UniSTS

SHGC-145369

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	106,801,763 - 106,802,051	UniSTS	GRCh37
Build 36	2	106,168,195 - 106,168,483	RGD	NCBI36
Celera	2	101,002,212 - 101,002,500	RGD
Cytogenetic Map	2	q12.2	UniSTS
HuRef	2	100,571,556 - 100,571,844	UniSTS
TNG Radiation Hybrid Map	2	62276.0	UniSTS

WIAF-1518

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	106,710,454 - 106,710,580	UniSTS	GRCh37
Build 36	2	106,076,886 - 106,077,012	RGD	NCBI36
Celera	2	100,910,880 - 100,911,006	RGD
Cytogenetic Map	2	q12.2	UniSTS
HuRef	2	100,480,432 - 100,480,558	UniSTS
GeneMap99-GB4 RH Map	2	368.84	UniSTS

RH12428

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	106,709,857 - 106,710,028	UniSTS	GRCh37
Build 36	2	106,076,289 - 106,076,460	RGD	NCBI36
Celera	2	100,910,283 - 100,910,454	RGD
Cytogenetic Map	2	q12.2	UniSTS
HuRef	2	100,479,835 - 100,480,006	UniSTS
GeneMap99-GB4 RH Map	2	366.65	UniSTS
NCBI RH Map	2	785.4	UniSTS

RH18480

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	106,804,652 - 106,804,831	UniSTS	GRCh37
Build 36	2	106,171,084 - 106,171,263	RGD	NCBI36
Celera	2	101,005,109 - 101,005,288	RGD
Cytogenetic Map	2	q12.2	UniSTS
HuRef	2	100,574,451 - 100,574,630	UniSTS
GeneMap99-GB4 RH Map	2	366.75	UniSTS
NCBI RH Map	2	786.5	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

1985

1527

1158

177

1017

110

3124

1048

2523

349

1381

1582

882

1885

Low

453

1460

568

446

930

355

1232

1149

1209

322

903

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001253875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001253876	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001377504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001377505	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001377506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001377507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001377508	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001377509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_025076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_045607	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_165308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011511902	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011511903	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017005011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017005014	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024453157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445918	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054344035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054344036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054344037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054344038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054344039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054344040	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC018878	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI217133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075170	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225592	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY147934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358541	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009819	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI550591	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI825770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM472113	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX366726	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CF242897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ783167	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ783244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB379311	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000283148 ⟹ ENSP00000283148

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,093,311 - 106,194,301 (-)	Ensembl

RefSeq Acc Id:

ENST00000409032 ⟹ ENSP00000387096

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,093,604 - 106,138,881 (-)	Ensembl

RefSeq Acc Id:

ENST00000409501 ⟹ ENSP00000387019

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,093,508 - 106,194,299 (-)	Ensembl

RefSeq Acc Id:

ENST00000416298 ⟹ ENSP00000403612

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,104,794 - 106,160,625 (-)	Ensembl

RefSeq Acc Id:

ENST00000436241 ⟹ ENSP00000397049

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,123,052 - 106,138,786 (-)	Ensembl

RefSeq Acc Id:

ENST00000441952 ⟹ ENSP00000416656

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,101,047 - 106,194,299 (-)	Ensembl

RefSeq Acc Id:

ENST00000444193 ⟹ ENSP00000404468

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,112,643 - 106,160,584 (-)	Ensembl

RefSeq Acc Id:

ENST00000457835 ⟹ ENSP00000399316

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,122,971 - 106,194,299 (-)	Ensembl

RefSeq Acc Id:

ENST00000470053

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,100,773 - 106,104,824 (-)	Ensembl

RefSeq Acc Id:

ENST00000473338

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,093,604 - 106,097,710 (-)	Ensembl

RefSeq Acc Id:

ENST00000474920

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,158,058 - 106,166,479 (-)	Ensembl

RefSeq Acc Id:

ENST00000479621

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,145,190 - 106,160,397 (-)	Ensembl

RefSeq Acc Id:

ENST00000479774

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,145,190 - 106,160,112 (-)	Ensembl

RefSeq Acc Id:

ENST00000483426

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,145,269 - 106,194,299 (-)	Ensembl

RefSeq Acc Id:

ENST00000497604

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	106,093,308 - 106,102,952 (-)	Ensembl

RefSeq Acc Id:

NM_001253875 ⟹ NP_001240804

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI
GRCh37	2	106,709,759 - 106,810,795 (-)	NCBI
HuRef	2	100,479,737 - 100,580,558 (-)	NCBI
CHM1_1	2	106,714,842 - 106,815,643 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,655,255 (-)	NCBI

Sequence:

show sequence

GCATTGTGCAGCAGGCGGGCCCCCGCGCGGTAGGGCCCTGGACCCGCGCGGCTCCCGGGGATGG
TGAGCAAGGCGCTGCTGCGCCTCGTGTCTGCCGTCAACCGCAGGAGGATGAAGCTGCTGCTGGG
CATCGCCTTGCTGGCCTACGTCGCCTCTGTTTGGGGCAACTTCGTTAATATGAGCTTTCTACTC
AACAGGTCTATCCAGGAAAATGGTGAACTAAAAATTGAAAGCAAGATTGAAGAGATGGTTGAAC
CACTAAGAGAGAAAATCAGAGATTTAGAAAAAAGCTTTACCCAGAAATACCCACCAGTAAAGTT
TTTATCAGAAAAGGATCGGAAAAGAATTTTGATAACAGGAGGCGCAGGGTTCGTGGGCTCCCAT
CTAACTGACAAACTCATGATGGACGGCCACGAGGTGACCGTGGTGGACAATTTCTTCACGGGCA
GGAAGAGAAACGTGGAGCACTGGATCGGACATGAGAACTTCGAGTTGATTAACCACGACGTGGT
GGAGCCCCTCTACATCGAGGTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAAC
TACATGTATAATCCTATCAAGACATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGC
TGGCAAAACGAGTCGGTGCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGA
AGTCCACCCTCAAAGTGAGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTAC
GATGAAGGCAAACGTGTTGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAG
TGCGAGTGGCCAGAATCTTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGT
CAGCAACTTCATCCTGCAGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAG
ACAAGGGCGTTCCAGTACGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACG
TCAGCAGCCCGGTCAACCTGGGGAACCCAGAAGAACACACAATCCTAGAATTTGCTCAGTTAAT
TAAAAACCTTGTTGGTAGCGGAAGTGAAATTCAGTTTCTCTCCGAAGCCCAGGATGACCCACAG
AAAAGAAAACCAGACATCAAAAAAGCAAAGCTGATGCTGGGGTGGGAGCCCGTGGTCCCGCTGG
AGGAAGGTTTAAACAAAGCAATTCACTACTTCCGTAAAGAACTCGAGTACCAGGCAAATAATCA
GTACATCCCCAAACCAAAGCCTGCCAGAATAAAGAAAGGACGGACTCGCCACAGCTGAACTCCT
CACTTTTAGGACACAAGACTACCATTGTACACTTGATGGGATGTATTTTTGGCTTTTTTTTGTT
GTCGTTTAAAGAAAGACTTTAACAGGTGTCATGAAGAACAAACTGGAATTTCATTCTGAAGCTT
GCTTTAATGAAATGGATGTGCCTAAAAGCTCCCCTCAAAAAACTGCAGATTTTGCCTTGCACTT
TTTGAATCTCTCTTTTTATGTAAAATAGCGTAGATGCATCTCTGCGTATTTTCAAGTTTTTTTA
TCTTGCTGTGAGAGCATATGTTGTGACTGTCGTTGACAGTTTTATTTACTGGTTTCTTTGTGAA
GCTGAAAAGGAACATTAAGCGGGACAAAAAATGCCGATTTTATTTATGAAAGTGGGTACTTAAT
AAATGAGTCGTTATACTATGCATAAAGAAAAATCCTAGCAGTATTGTCAGGTGGTGGTGCGCCG
GCATTGATTTTAGGGCAGATAAAAGAATTCTGTGTGAGAGCTTTATGTTTCTCTTTTAATTCAG
AGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACTTGACTTTGAAATATTCCTGTTGGTCATGAT
CAAGGATATTTGAAATCACTACTGTGTTTTGCTGCGTATCTGGGGCGGGGGCAGGTTGGGGGGC
ACAAAGTTAACATATTCTTGGTTAACCATGGTTAAATATGCTATTTTAATAAATTATTGAAACT
CACCA

hide sequence

RefSeq Acc Id:

NM_001253876 ⟹ NP_001240805

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,138,881 (-)	NCBI
GRCh37	2	106,709,759 - 106,810,795 (-)	NCBI
HuRef	2	100,479,737 - 100,580,558 (-)	NCBI
CHM1_1	2	106,714,842 - 106,760,200 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,599,784 (-)	NCBI

Sequence:

show sequence

AGGATAGGAACTGGAGTTATTGTTAATGTTACAGGAAGAACACATTCTCAAAGGAGAGGGGGGT
GGTGGGAAACTTTGATTTTCATAGGGTTTTCAGTTTCCTCTCAAATGGGAGGATGCAGCAGTGC
CGCTACTTAACTGAACGTCTCGACAGTCTGATGGGGCGGCCCTCAGCCTTCCGGAGCAGCAGTG
GGACTGACCTGTCCAGTGAGGAAGAAACACTGAACCAGATGGAATGGCCTTTGGGGATGGAAAA
ACCCCAGTTTACGCTCATCTCTTCTCTCAGCTAACTTTTGTGGAGCCCTGTTCCCAAACTGGCC
TGGGCCAGAGCACCGTGGAGGGGTATTTGTTGTAAATGGAAGGTTTCCAGGCCCGCCTGGAAAT
CCTGAAGGGTGAGACCTGCAGTGGGCTCAGGAGTCTGCATTTGTGGGTGACCGAGGGGGCCTCC
CCTCCCTCTAGAGTCCACACTGTGGAGAGCATCAGGAAGGGAAAGGCCTGCATCTTGTGCTCAG
TGAGCTCATCGTCTAGTGAGGAAGGCATGTGTGAATCTCTGGACAAGGCAGCGCTGAGCTGTTG
TGGACTAGTGGTGCAGGCAAGGGATTATTTCTGACCAAGGATGGTGAGAAGGTTTCCCATACAG
ACTGACGTCTGGATTGAGCTTTGAAGAAGAAAGCCAGGACTGGAGCAGACGACGAGGAGGGAAG
AGTTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAACTACATGTATAATCCTAT
CAAGACATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGCTGGCAAAACGAGTCGGT
GCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGAAGTCCACCCTCAAAGTG
AGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTACGATGAAGGCAAACGTGT
TGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAGTGCGAGTGGCCAGAATC
TTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGTCAGCAACTTCATCCTGC
AGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAGACAAGGGCGTTCCAGTA
CGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACGTCAGCAGCCCGGTCAAC
CTGGGGAACCCAGAAGAACACACAATCCTAGAATTTGCTCAGTTAATTAAAAACCTTGTTGGTA
GCGGAAGTGAAATTCAGTTTCTCTCCGAAGCCCAGGATGACCCACAGAAAAGAAAACCAGACAT
CAAAAAAGCAAAGCTGATGCTGGGGTGGGAGCCCGTGGTCCCGCTGGAGGAAGGTTTAAACAAA
GCAATTCACTACTTCCGTAAAGAACTCGAGTACCAGGCAAATAATCAGTACATCCCCAAACCAA
AGCCTGCCAGAATAAAGAAAGGACGGACTCGCCACAGCTGAACTCCTCACTTTTAGGACACAAG
ACTACCATTGTACACTTGATGGGATGTATTTTTGGCTTTTTTTTGTTGTCGTTTAAAGAAAGAC
TTTAACAGGTGTCATGAAGAACAAACTGGAATTTCATTCTGAAGCTTGCTTTAATGAAATGGAT
GTGCCTAAAAGCTCCCCTCAAAAAACTGCAGATTTTGCCTTGCACTTTTTGAATCTCTCTTTTT
ATGTAAAATAGCGTAGATGCATCTCTGCGTATTTTCAAGTTTTTTTATCTTGCTGTGAGAGCAT
ATGTTGTGACTGTCGTTGACAGTTTTATTTACTGGTTTCTTTGTGAAGCTGAAAAGGAACATTA
AGCGGGACAAAAAATGCCGATTTTATTTATGAAAGTGGGTACTTAATAAATGAGTCGTTATACT
ATGCATAAAGAAAAATCCTAGCAGTATTGTCAGGTGGTGGTGCGCCGGCATTGATTTTAGGGCA
GATAAAAGAATTCTGTGTGAGAGCTTTATGTTTCTCTTTTAATTCAGAGTTTTTCCAAGGTCTA
CTTTTGAGTTGCAAACTTGACTTTGAAATATTCCTGTTGGTCATGATCAAGGATATTTGAAATC
ACTACTGTGTTTTGCTGCGTATCTGGGGCGGGGGCAGGTTGGGGGGCACAAAGTTAACATATTC
TTGGTTAACCATGGTTAAATATGCTATTTTAATAAATTATTGAAACTCACCA

hide sequence

RefSeq Acc Id:

NM_001377504 ⟹ NP_001364433

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,655,255 (-)	NCBI

Sequence:

show sequence

GCATTGTGCAGCAGGCGGGCCCCCGCGCGGTAGGGCCCTGGACCCGCGCGGCTCCCGGGGATGG
TGAGCAAGGCGCTGCTGCGCCTCGTGTCTGCCGTCAACCGCAGGAGGATGAAGCTGCTGCTGGG
CATCGCCTTGCTGGCCTACGTCGCCTCTGTTTGGGGCAACTTCGTTAATATGAGCTTTCTACTC
AACAGGTCTATCCAGGAAAATGGTGAACTAAAAATTGAAAGCAAGATTGAAGAGATGGTTGAAC
CACTAAGAGAGAAAATCAGAGATTTAGAAAAAAGCTTTACCCAGAAATACCCACCAGTAAAGTT
TTTATCAGAAAAGGATCGGAAAAGAATTTTGATAACAGGAGGCGCAGGGTTCGTGGGCTCCCAT
CTAACTGACAAACTCATGATGGACGGCCACGAGGTGACCGTGGTGGACAATTTCTTCACGGGCA
GGAAGAGAAACGTGGAGCACTGGATCGGACATGAGAACTTCGAGTTGATTAACCACGACGTGGT
GGAGCCCCTCTACATCGAGGTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAAC
TACATGTATAATCCTATCAAGACATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGC
TGGCAAAACGAGTCGGTGCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGA
AGTCCACCCTCAAAGTGAGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTAC
GATGAAGGCAAACGTGTTGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAG
TGCGAGTGGCCAGAATCTTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGT
CAGCAACTTCATCCTGCAGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAG
ACAAGGGCGTTCCAGTACGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACG
TCAGCAGCCCGGTCAACCTGGTCCCGCTGGAGGAAGGTTTAAACAAAGCAATTCACTACTTCCG
TAAAGAACTCGAGTACCAGGCAAATAATCAGTACATCCCCAAACCAAAGCCTGCCAGAATAAAG
AAAGGACGGACTCGCCACAGCTGAACTCCTCACTTTTAGGACACAAGACTACCATTGTACACTT
GATGGGATGTATTTTTGGCTTTTTTTTGTTGTCGTTTAAAGAAAGACTTTAACAGGTGTCATGA
AGAACAAACTGGAATTTCATTCTGAAGCTTGCTTTAATGAAATGGATGTGCCTAAAAGCTCCCC
TCAAAAAACTGCAGATTTTGCCTTGCACTTTTTGAATCTCTCTTTTTATGTAAAATAGCGTAGA
TGCATCTCTGCGTATTTTCAAGTTTTTTTATCTTGCTGTGAGAGCATATGTTGTGACTGTCGTT
GACAGTTTTATTTACTGGTTTCTTTGTGAAGCTGAAAAGGAACATTAAGCGGGACAAAAAATGC
CGATTTTATTTATGAAAGTGGGTACTTAATAAATGAGTCGTTATACTATGCATAAAGAAAAATC
CTAGCAGTATTGTCAGGTGGTGGTGCGCCGGCATTGATTTTAGGGCAGATAAAAGAATTCTGTG
TGAGAGCTTTATGTTTCTCTTTTAATTCAGAGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACT
TGACTTTGAAATATTCCTGTTGGTCATGATCAAGGATATTTGAAATCACTACTGTGTTTTGCTG
CGTATCTGGGGCGGGGGCAGGTTGGGGGGCACAAAGTTAACATATTCTTGGTTAACCATGGTTA
AATATGCTATTTTAATAAATTATTGAAACTCACCA

hide sequence

RefSeq Acc Id:

NM_001377505 ⟹ NP_001364434

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,655,255 (-)	NCBI

Sequence:

show sequence

GCATTGTGCAGCAGGCGGGCCCCCGCGCGGTAGGGCCCTGGACCCGCGCGGCTCCCGGGGATGG
TGAGCAAGGCGCTGCTGCGCCTCGTGTCTGCCGTCAACCGCAGGAGGATGAAGCTGCTGCTGGG
CATCGCCTTGCTGGCCTACGTCGCCTCTGTTTGGGGCAACTTCGTTAATATGAGGTCTATCCAG
GAAAATGGTGAACTAAAAATTGAAAGCAAGATTGAAGAGATGGTTGAACCACTAAGAGAGAAAA
TCAGAGATTTAGAAAAAAGCTTTACCCAGAAATACCCACCAGTAAAGTTTTTATCAGAAAAGGA
TCGGAAAAGAATTTTGATAACAGGAGGCGCAGGGTTCGTGGGCTCCCATCTAACTGACAAACTC
ATGATGGACGGCCACGAGGTGACCGTGGTGGACAATTTCTTCACGGGCAGGAAGAGAAACGTGG
AGCACTGGATCGGACATGAGAACTTCGAGTTGATTAACCACGACGTGGTGGAGCCCCTCTACAT
CGAGGTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAACTACATGTATAATCCT
ATCAAGACATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGCTGGCAAAACGAGTCG
GTGCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGAAGTCCACCCTCAAAG
TGAGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTACGATGAAGGCAAACGT
GTTGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAGTGCGAGTGGCCAGAA
TCTTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGTCAGCAACTTCATCCT
GCAGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAGACAAGGGCGTTCCAG
TACGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACGTCAGCAGCCCGGTCA
ACCTGGTCCCGCTGGAGGAAGGTTTAAACAAAGCAATTCACTACTTCCGTAAAGAACTCGAGTA
CCAGGCAAATAATCAGTACATCCCCAAACCAAAGCCTGCCAGAATAAAGAAAGGACGGACTCGC
CACAGCTGAACTCCTCACTTTTAGGACACAAGACTACCATTGTACACTTGATGGGATGTATTTT
TGGCTTTTTTTTGTTGTCGTTTAAAGAAAGACTTTAACAGGTGTCATGAAGAACAAACTGGAAT
TTCATTCTGAAGCTTGCTTTAATGAAATGGATGTGCCTAAAAGCTCCCCTCAAAAAACTGCAGA
TTTTGCCTTGCACTTTTTGAATCTCTCTTTTTATGTAAAATAGCGTAGATGCATCTCTGCGTAT
TTTCAAGTTTTTTTATCTTGCTGTGAGAGCATATGTTGTGACTGTCGTTGACAGTTTTATTTAC
TGGTTTCTTTGTGAAGCTGAAAAGGAACATTAAGCGGGACAAAAAATGCCGATTTTATTTATGA
AAGTGGGTACTTAATAAATGAGTCGTTATACTATGCATAAAGAAAAATCCTAGCAGTATTGTCA
GGTGGTGGTGCGCCGGCATTGATTTTAGGGCAGATAAAAGAATTCTGTGTGAGAGCTTTATGTT
TCTCTTTTAATTCAGAGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACTTGACTTTGAAATATT
CCTGTTGGTCATGATCAAGGATATTTGAAATCACTACTGTGTTTTGCTGCGTATCTGGGGCGGG
GGCAGGTTGGGGGGCACAAAGTTAACATATTCTTGGTTAACCATGGTTAAATATGCTATTTTAA
TAAATTATTGAAACTCACCA

hide sequence

RefSeq Acc Id:

NM_001377506 ⟹ NP_001364435

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,160,637 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,621,549 (-)	NCBI

Sequence:

show sequence

AGATAGGGACTATTCTAAGCTGACAGCTTGGATTAACATTTGTTTCCATGGCCCCGGATGCACA
CTCCACAGTCCTGCGCCTCCGCTCCTCACTGAATTGGTTTTCTCCCTGCACCGCGTTTTCCCAT
ATGTAGCTATATTCCCATTCCCGAGCGGTCTTGACTCTAAAATCATATACACGGTAGAGAAGGA
GCCCTGAAGGTGAGTGAGGGGAAGTCATGAGTCAGAGACGGCTCCAGCGTTTTCACGACAGACA
GTTCGGAGGAGCCACGGTGCTTATGAGCAGTCGTGGGAAGGAAAGAGTCTCAGCTGTGCCACGG
CACTGGGTGTGCCACTTGGGGACTGAGGCTGAAGACATGGATATCGTGAGCTCAGAGAAATGAG
GACAATTGGAGCGGTGTGAGAGGTGCACACAAATAACTCTGAGATTTACAGTGCCGTCCCCTAG
CTGAGTTGGTGAGGGAAGAAGAGGCGGAATGACAAGAAGTGTTACTTGGCAAACAAGACATCTG
TGCCGCTCCCGCCAGTCTAACAGCATCGCTCCTGACTGAAGGCAGAACTTGCTCCTGCTCCCCA
GCTGCATGGATGACTTTCCTGAGGCACTTCCTATGGGCGGCAAGTACTAAAGACGGTCGCTTTA
CCCAGAAATACCCACCAGTAAAGTTTTTATCAGAAAAGGATCGGAAAAGAATTTTGATAACAGG
AGGCGCAGGGTTCGTGGGCTCCCATCTAACTGACAAACTCATGATGGACGGCCACGAGGTGACC
GTGGTGGACAATTTCTTCACGGGCAGGAAGAGAAACGTGGAGCACTGGATCGGACATGAGAACT
TCGAGTTGATTAACCACGACGTGGTGGAGCCCCTCTACATCGAGGTTGACCAGATATACCATCT
GGCATCTCCAGCCTCCCCTCCAAACTACATGTATAATCCTATCAAGACATTAAAGACCAATACG
ATTGGGACATTAAACATGTTGGGGCTGGCAAAACGAGTCGGTGCCCGTCTGCTCCTGGCCTCCA
CATCGGAGGTGTATGGAGATCCTGAAGTCCACCCTCAAAGTGAGGATTACTGGGGCCACGTGAA
TCCAATAGGACCTCGGGCCTGCTACGATGAAGGCAAACGTGTTGCAGAGACCATGTGCTATGCC
TACATGAAGCAGGAAGGCGTGGAAGTGCGAGTGGCCAGAATCTTCAACACCTTTGGGCCACGCA
TGCACATGAACGATGGGCGAGTAGTCAGCAACTTCATCCTGCAGGCGCTCCAGGGGGAGCCACT
CACGGTATACGGATCCGGGTCTCAGACAAGGGCGTTCCAGTACGTCAGCGATCTAGTGAATGGC
CTCGTGGCTCTCATGAACAGCAACGTCAGCAGCCCGGTCAACCTGGGGAACCCAGAAGAACACA
CAATCCTAGAATTTGCTCAGTTAATTAAAAACCTTGTTGGTAGCGGAAGTGAAATTCAGTTTCT
CTCCGAAGCCCAGGATGACCCACAGAAAAGAAAACCAGACATCAAAAAAGCAAAGCTGATGCTG
GGGTGGGAGCCCGTGGTCCCGCTGGAGGAAGGTTTAAACAAAGCAATTCACTACTTCCGTAAAG
AACTCGAGTACCAGGCAAATAATCAGTACATCCCCAAACCAAAGCCTGCCAGAATAAAGAAAGG
ACGGACTCGCCACAGCTGAACTCCTCACTTTTAGGACACAAGACTACCATTGTACACTTGATGG
GATGTATTTTTGGCTTTTTTTTGTTGTCGTTTAAAGAAAGACTTTAACAGGTGTCATGAAGAAC
AAACTGGAATTTCATTCTGAAGCTTGCTTTAATGAAATGGATGTGCCTAAAAGCTCCCCTCAAA
AAACTGCAGATTTTGCCTTGCACTTTTTGAATCTCTCTTTTTATGTAAAATAGCGTAGATGCAT
CTCTGCGTATTTTCAAGTTTTTTTATCTTGCTGTGAGAGCATATGTTGTGACTGTCGTTGACAG
TTTTATTTACTGGTTTCTTTGTGAAGCTGAAAAGGAACATTAAGCGGGACAAAAAATGCCGATT
TTATTTATGAAAGTGGGTACTTAATAAATGAGTCGTTATACTATGCATAAAGAAAAATCCTAGC
AGTATTGTCAGGTGGTGGTGCGCCGGCATTGATTTTAGGGCAGATAAAAGAATTCTGTGTGAGA
GCTTTATGTTTCTCTTTTAATTCAGAGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACTTGACT
TTGAAATATTCCTGTTGGTCATGATCAAGGATATTTGAAATCACTACTGTGTTTTGCTGCGTAT
CTGGGGCGGGGGCAGGTTGGGGGGCACAAAGTTAACATATTCTTGGTTAACCATGGTTAAATAT
GCTATTTTAATAAATTATTGAAACTCACCA

hide sequence

RefSeq Acc Id:

NM_001377507 ⟹ NP_001364436

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,655,255 (-)	NCBI

Sequence:

show sequence

GCATTGTGCAGCAGGCGGGCCCCCGCGCGGTAGGGCCCTGGACCCGCGCGGCTCCCGGGGATGG
TGAGCAAGGCGCTGCTGCGCCTCGTGTCTGCCGTCAACCGCAGGAGGATGAAGCTGCTGCTGGG
CATCGCCTTGCTGGCCTACGTCGCCTCTGTTTGGGGCAACTTCGTTAATATGAGCTTTCTACTC
AACAGGTCTATCCAGGAAAATGGTGAACTAAAAATTGAAAGCAAGATTGAAGAGATGGTTGAAC
CACTAAGAGAGAAAATCAGAGATTTAGAAAAAAGCTTTACCCAGAAATACCCACCAGTAAAGTT
TTTATCAGAAAAGGATCGGAAAAGAATTTTGATAACAGGAGGCGCAGGGTTCGTGGGCTCCCAT
CTAACTGACAAACTCATGATGGACGGCCACGAGGTGACCGTGGTGGACAATTTCTTCACGGGCA
GGAAGAGAAACGTGGAGCACTGGATCGGACATGAGAACTTCGAGTTGATTAACCACGACGTGGT
GGAGCCCCTCTACATCGAGGTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAAC
TACATGTATAATCCTATCAAGACATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGC
TGGCAAAACGAGTCGGTGCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGA
AGTCCACCCTCAAAGTGAGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTAC
GATGAAGGCAAACGTGTTGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAG
TGCGAGTGGCCAGAATCTTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGT
CAGCAACTTCATCCTGCAGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAG
ACAAGGGCGTTCCAGTACGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACG
TCAGCAGCCCGGTCAACCTGGGGAACCCAGAAGAACACACAATCCTAGAATTTGCTCAGTTAAT
TAAAAACCTTGTTGGTCCCGCTGGAGGAAGGTTTAAACAAAGCAATTCACTACTTCCGTAAAGA
ACTCGAGTACCAGGCAAATAATCAGTACATCCCCAAACCAAAGCCTGCCAGAATAAAGAAAGGA
CGGACTCGCCACAGCTGAACTCCTCACTTTTAGGACACAAGACTACCATTGTACACTTGATGGG
ATGTATTTTTGGCTTTTTTTTGTTGTCGTTTAAAGAAAGACTTTAACAGGTGTCATGAAGAACA
AACTGGAATTTCATTCTGAAGCTTGCTTTAATGAAATGGATGTGCCTAAAAGCTCCCCTCAAAA
AACTGCAGATTTTGCCTTGCACTTTTTGAATCTCTCTTTTTATGTAAAATAGCGTAGATGCATC
TCTGCGTATTTTCAAGTTTTTTTATCTTGCTGTGAGAGCATATGTTGTGACTGTCGTTGACAGT
TTTATTTACTGGTTTCTTTGTGAAGCTGAAAAGGAACATTAAGCGGGACAAAAAATGCCGATTT
TATTTATGAAAGTGGGTACTTAATAAATGAGTCGTTATACTATGCATAAAGAAAAATCCTAGCA
GTATTGTCAGGTGGTGGTGCGCCGGCATTGATTTTAGGGCAGATAAAAGAATTCTGTGTGAGAG
CTTTATGTTTCTCTTTTAATTCAGAGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACTTGACTT
TGAAATATTCCTGTTGGTCATGATCAAGGATATTTGAAATCACTACTGTGTTTTGCTGCGTATC
TGGGGCGGGGGCAGGTTGGGGGGCACAAAGTTAACATATTCTTGGTTAACCATGGTTAAATATG
CTATTTTAATAAATTATTGAAACTCACCA

hide sequence

RefSeq Acc Id:

NM_001377508 ⟹ NP_001364437

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,655,255 (-)	NCBI

Sequence:

show sequence

GCATTGTGCAGCAGGCGGGCCCCCGCGCGGTAGGGCCCTGGACCCGCGCGGCTCCCGGGGATGG
TGAGCAAGGCGCTGCTGCGCCTCGTGTCTGCCGTCAACCGCAGGAGGATGAAGCTGCTGCTGGG
CATCGCCTTGCTGGCCTACGTCGCCTCTGTTTGGGGCAACTTCGTTAATATGAGGTCTATCCAG
GAAAATGGTGAACTAAAAATTGAAAGCAAGATTGAAGAGATGGTTGAACCACTAAGAGAGAAAA
TCAGAGATTTAGAAAAAAGCTTTACCCAGAAATACCCACCAGTAAAGTTTTTATCAGAAAAGGA
TCGGAAAAGAATTTTGATAACAGGAGGCGCAGGGTTCGTGGGCTCCCATCTAACTGACAAACTC
ATGATGGACGGCCACGAGGTGACCGTGGTGGACAATTTCTTCACGGGCAGGAAGAGAAACGTGG
AGCACTGGATCGGACATGAGAACTTCGAGTTGATTAACCACGACGTGGTGGAGCCCCTCTACAT
CGAGGTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAACTACATGTATAATCCT
ATCAAGACATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGCTGGCAAAACGAGTCG
GTGCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGAAGTCCACCCTCAAAG
TGAGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTACGATGAAGGCAAACGT
GTTGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAGTGCGAGTGGCCAGAA
TCTTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGTCAGCAACTTCATCCT
GCAGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAGACAAGGGCGTTCCAG
TACGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACGTCAGCAGCCCGGTCA
ACCTGGGGAACCCAGAAGAACACACAATCCTAGAATTTGCTCAGTTAATTAAAAACCTTGTTGG
TCCCGCTGGAGGAAGGTTTAAACAAAGCAATTCACTACTTCCGTAAAGAACTCGAGTACCAGGC
AAATAATCAGTACATCCCCAAACCAAAGCCTGCCAGAATAAAGAAAGGACGGACTCGCCACAGC
TGAACTCCTCACTTTTAGGACACAAGACTACCATTGTACACTTGATGGGATGTATTTTTGGCTT
TTTTTTGTTGTCGTTTAAAGAAAGACTTTAACAGGTGTCATGAAGAACAAACTGGAATTTCATT
CTGAAGCTTGCTTTAATGAAATGGATGTGCCTAAAAGCTCCCCTCAAAAAACTGCAGATTTTGC
CTTGCACTTTTTGAATCTCTCTTTTTATGTAAAATAGCGTAGATGCATCTCTGCGTATTTTCAA
GTTTTTTTATCTTGCTGTGAGAGCATATGTTGTGACTGTCGTTGACAGTTTTATTTACTGGTTT
CTTTGTGAAGCTGAAAAGGAACATTAAGCGGGACAAAAAATGCCGATTTTATTTATGAAAGTGG
GTACTTAATAAATGAGTCGTTATACTATGCATAAAGAAAAATCCTAGCAGTATTGTCAGGTGGT
GGTGCGCCGGCATTGATTTTAGGGCAGATAAAAGAATTCTGTGTGAGAGCTTTATGTTTCTCTT
TTAATTCAGAGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACTTGACTTTGAAATATTCCTGTT
GGTCATGATCAAGGATATTTGAAATCACTACTGTGTTTTGCTGCGTATCTGGGGCGGGGGCAGG
TTGGGGGGCACAAAGTTAACATATTCTTGGTTAACCATGGTTAAATATGCTATTTTAATAAATT
ATTGAAACTCACCA

hide sequence

RefSeq Acc Id:

NM_001377509 ⟹ NP_001364438

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,160,637 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,621,549 (-)	NCBI

Sequence:

show sequence

AGATAGGGACTATTCTAAGCTGACAGCTTGGATTAACATTTGTTTCCATGGCCCCGGATGCACA
CTCCACAGTCCTGCGCCTCCGCTCCTCACTGAATTGGTTTTCTCCCTGCACCGCGTTTTCCCAT
ATGTAGCTATATTCCCATTCCCGAGCGGTCTTGACTCTAAAATCATATACACGGTAGAGAAGGA
GCCCTGAAGGTGAGTGAGGGGAAGTCATGAGTCAGAGACGGCTCCAGCGTTTTCACGACAGACA
GTTCGGAGGAGCCACGGTGCTTATGAGCAGTCGTGGGAAGGAAAGAGTCTCAGCTGTGCCACGG
CACTGGGTGTGCCACTTGGGGACTGAGGCTGAAGACATGGATATCGTGAGCTCAGAGAAATGAG
GACAATTGGAGCGGTGTGAGAGGTGCACACAAATAACTCTGAGATTTACAGTGCCGTCCCCTAG
CTGAGTTGGTGAGGGAAGAAGAGGCGGAATGACAAGAAGTGTTACTTGGCAAACAAGACATCTG
TGCCGCTCCCGCCAGTCTAACAGCATCGCTCCTGACTGAAGGCAGAACTTGCTCCTGCTCCCCA
GCTGCATGGATGACTTTCCTGAGGCACTTCCTATGGGCGGCAAGTACTAAAGACGGTCGGGACG
CTGGTCAGGAAGAGGATGCCGTGATTGTGAAAATTCCTGGAGCAGGAGACAAAGTTTCATTAAT
ATCTCTTCTCGCTCTTGTGGAGCGGTCCTCATGCGTTGGGCCTGTGACTTCACGAAGCTGCTTT
CTTCCACCTGGACCCTGATACAGTACCCAGAGAATGCCATGATTATAGCCCGGTGGGCTCTTCT
TGCCGACTGCCCTGAGAAAACCAAGGCACTGAGAACAACAGCTTTACCCAGAAATACCCACCAG
TAAAGTTTTTATCAGAAAAGGATCGGAAAAGAATTTTGATAACAGGAGGCGCAGGGTTCGTGGG
CTCCCATCTAACTGACAAACTCATGATGGACGGCCACGAGGTGACCGTGGTGGACAATTTCTTC
ACGGGCAGGAAGAGAAACGTGGAGCACTGGATCGGACATGAGAACTTCGAGTTGATTAACCACG
ACGTGGTGGAGCCCCTCTACATCGAGGTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCC
TCCAAACTACATGTATAATCCTATCAAGACATTAAAGACCAATACGATTGGGACATTAAACATG
TTGGGGCTGGCAAAACGAGTCGGTGCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAG
ATCCTGAAGTCCACCCTCAAAGTGAGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGC
CTGCTACGATGAAGGCAAACGTGTTGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGC
GTGGAAGTGCGAGTGGCCAGAATCTTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGC
GAGTAGTCAGCAACTTCATCCTGCAGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGG
GTCTCAGACAAGGGCGTTCCAGTACGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAAC
AGCAACGTCAGCAGCCCGGTCAACCTGGGGAACCCAGAAGAACACACAATCCTAGAATTTGCTC
AGTTAATTAAAAACCTTGTTGGTAGCGGAAGTGAAATTCAGTTTCTCTCCGAAGCCCAGGATGA
CCCACAGAAAAGAAAACCAGACATCAAAAAAGCAAAGCTGATGCTGGGGTGGGAGCCCGTGGTC
CCGCTGGAGGAAGGTTTAAACAAAGCAATTCACTACTTCCGTAAAGAACTCGAGTACCAGGCAA
ATAATCAGTACATCCCCAAACCAAAGCCTGCCAGAATAAAGAAAGGACGGACTCGCCACAGCTG
AACTCCTCACTTTTAGGACACAAGACTACCATTGTACACTTGATGGGATGTATTTTTGGCTTTT
TTTTGTTGTCGTTTAAAGAAAGACTTTAACAGGTGTCATGAAGAACAAACTGGAATTTCATTCT
GAAGCTTGCTTTAATGAAATGGATGTGCCTAAAAGCTCCCCTCAAAAAACTGCAGATTTTGCCT
TGCACTTTTTGAATCTCTCTTTTTATGTAAAATAGCGTAGATGCATCTCTGCGTATTTTCAAGT
TTTTTTATCTTGCTGTGAGAGCATATGTTGTGACTGTCGTTGACAGTTTTATTTACTGGTTTCT
TTGTGAAGCTGAAAAGGAACATTAAGCGGGACAAAAAATGCCGATTTTATTTATGAAAGTGGGT
ACTTAATAAATGAGTCGTTATACTATGCATAAAGAAAAATCCTAGCAGTATTGTCAGGTGGTGG
TGCGCCGGCATTGATTTTAGGGCAGATAAAAGAATTCTGTGTGAGAGCTTTATGTTTCTCTTTT
AATTCAGAGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACTTGACTTTGAAATATTCCTGTTGG
TCATGATCAAGGATATTTGAAATCACTACTGTGTTTTGCTGCGTATCTGGGGCGGGGGCAGGTT
GGGGGGCACAAAGTTAACATATTCTTGGTTAACCATGGTTAAATATGCTATTTTAATAAATTAT
TGAAACTCACCA

hide sequence

RefSeq Acc Id:

NM_025076 ⟹ NP_079352

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI
GRCh37	2	106,709,759 - 106,810,795 (-)	RGD
Build 36	2	106,076,191 - 106,177,227 (-)	NCBI Archive
Celera	2	100,910,185 - 101,011,254 (-)	RGD
HuRef	2	100,479,737 - 100,580,558 (-)	ENTREZGENE
CHM1_1	2	106,714,842 - 106,815,643 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,655,255 (-)	NCBI

Sequence:

show sequence

GCATTGTGCAGCAGGCGGGCCCCCGCGCGGTAGGGCCCTGGACCCGCGCGGCTCCCGGGGATGG
TGAGCAAGGCGCTGCTGCGCCTCGTGTCTGCCGTCAACCGCAGGAGGATGAAGCTGCTGCTGGG
CATCGCCTTGCTGGCCTACGTCGCCTCTGTTTGGGGCAACTTCGTTAATATGAGGTCTATCCAG
GAAAATGGTGAACTAAAAATTGAAAGCAAGATTGAAGAGATGGTTGAACCACTAAGAGAGAAAA
TCAGAGATTTAGAAAAAAGCTTTACCCAGAAATACCCACCAGTAAAGTTTTTATCAGAAAAGGA
TCGGAAAAGAATTTTGATAACAGGAGGCGCAGGGTTCGTGGGCTCCCATCTAACTGACAAACTC
ATGATGGACGGCCACGAGGTGACCGTGGTGGACAATTTCTTCACGGGCAGGAAGAGAAACGTGG
AGCACTGGATCGGACATGAGAACTTCGAGTTGATTAACCACGACGTGGTGGAGCCCCTCTACAT
CGAGGTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAACTACATGTATAATCCT
ATCAAGACATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGCTGGCAAAACGAGTCG
GTGCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGAAGTCCACCCTCAAAG
TGAGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTACGATGAAGGCAAACGT
GTTGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAGTGCGAGTGGCCAGAA
TCTTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGTCAGCAACTTCATCCT
GCAGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAGACAAGGGCGTTCCAG
TACGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACGTCAGCAGCCCGGTCA
ACCTGGGGAACCCAGAAGAACACACAATCCTAGAATTTGCTCAGTTAATTAAAAACCTTGTTGG
TAGCGGAAGTGAAATTCAGTTTCTCTCCGAAGCCCAGGATGACCCACAGAAAAGAAAACCAGAC
ATCAAAAAAGCAAAGCTGATGCTGGGGTGGGAGCCCGTGGTCCCGCTGGAGGAAGGTTTAAACA
AAGCAATTCACTACTTCCGTAAAGAACTCGAGTACCAGGCAAATAATCAGTACATCCCCAAACC
AAAGCCTGCCAGAATAAAGAAAGGACGGACTCGCCACAGCTGAACTCCTCACTTTTAGGACACA
AGACTACCATTGTACACTTGATGGGATGTATTTTTGGCTTTTTTTTGTTGTCGTTTAAAGAAAG
ACTTTAACAGGTGTCATGAAGAACAAACTGGAATTTCATTCTGAAGCTTGCTTTAATGAAATGG
ATGTGCCTAAAAGCTCCCCTCAAAAAACTGCAGATTTTGCCTTGCACTTTTTGAATCTCTCTTT
TTATGTAAAATAGCGTAGATGCATCTCTGCGTATTTTCAAGTTTTTTTATCTTGCTGTGAGAGC
ATATGTTGTGACTGTCGTTGACAGTTTTATTTACTGGTTTCTTTGTGAAGCTGAAAAGGAACAT
TAAGCGGGACAAAAAATGCCGATTTTATTTATGAAAGTGGGTACTTAATAAATGAGTCGTTATA
CTATGCATAAAGAAAAATCCTAGCAGTATTGTCAGGTGGTGGTGCGCCGGCATTGATTTTAGGG
CAGATAAAAGAATTCTGTGTGAGAGCTTTATGTTTCTCTTTTAATTCAGAGTTTTTCCAAGGTC
TACTTTTGAGTTGCAAACTTGACTTTGAAATATTCCTGTTGGTCATGATCAAGGATATTTGAAA
TCACTACTGTGTTTTGCTGCGTATCTGGGGCGGGGGCAGGTTGGGGGGCACAAAGTTAACATAT
TCTTGGTTAACCATGGTTAAATATGCTATTTTAATAAATTATTGAAACTCACCA

hide sequence

RefSeq Acc Id:

NR_045607

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI
GRCh37	2	106,709,759 - 106,810,795 (-)	NCBI
HuRef	2	100,479,737 - 100,580,558 (-)	NCBI
CHM1_1	2	106,714,842 - 106,815,643 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,655,255 (-)	NCBI

Sequence:

show sequence

GCATTGTGCAGCAGGCGGGCCCCCGCGCGGTAGGGCCCTGGACCCGCGCGGCTCCCGGGGATGG
TGAGCAAGGCGCTGCTGCGCCTCGTGTCTGCCGTCAACCGCAGGAGGATGAAGCTGCTGCTGGG
CATCGCCTTGCTGGCCTACGTCGCCTCTGTTTGGGGCAACTTCGTTAATATGAGATGGTTGAAC
CACTAAGAGAGAAAATCAGAGATTTAGAAAAAAGCTTTACCCAGAAATACCCACCAGTAAAGTT
TTTATCAGAAAAGGATCGGAAAAGAATTTTGATAACAGGAGGCGCAGGGTTCGTGGGCTCCCAT
CTAACTGACAAACTCATGATGGACGGCCACGAGGTGACCGTGGTGGACAATTTCTTCACGGGCA
GGAAGAGAAACGTGGAGCACTGGATCGGACATGAGAACTTCGAGTTGATTAACCACGACGTGGT
GGAGCCCCTCTACATCGAGGTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAAC
TACATGTATAATCCTATCAAGACATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGC
TGGCAAAACGAGTCGGTGCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGA
AGTCCACCCTCAAAGTGAGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTAC
GATGAAGGCAAACGTGTTGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAG
TGCGAGTGGCCAGAATCTTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGT
CAGCAACTTCATCCTGCAGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAG
ACAAGGGCGTTCCAGTACGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACG
TCAGCAGCCCGGTCAACCTGGGGAACCCAGAAGAACACACAATCCTAGAATTTGCTCAGTTAAT
TAAAAACCTTGTTGGTAGCGGAAGTGAAATTCAGTTTCTCTCCGAAGCCCAGGATGACCCACAG
AAAAGAAAACCAGACATCAAAAAAGCAAAGCTGATGCTGGGGTGGGAGCCCGTGGTCCCGCTGG
AGGAAGGTTTAAACAAAGCAATTCACTACTTCCGTAAAGAACTCGAGTACCAGGCAAATAATCA
GTACATCCCCAAACCAAAGCCTGCCAGAATAAAGAAAGGACGGACTCGCCACAGCTGAACTCCT
CACTTTTAGGACACAAGACTACCATTGTACACTTGATGGGATGTATTTTTGGCTTTTTTTTGTT
GTCGTTTAAAGAAAGACTTTAACAGGTGTCATGAAGAACAAACTGGAATTTCATTCTGAAGCTT
GCTTTAATGAAATGGATGTGCCTAAAAGCTCCCCTCAAAAAACTGCAGATTTTGCCTTGCACTT
TTTGAATCTCTCTTTTTATGTAAAATAGCGTAGATGCATCTCTGCGTATTTTCAAGTTTTTTTA
TCTTGCTGTGAGAGCATATGTTGTGACTGTCGTTGACAGTTTTATTTACTGGTTTCTTTGTGAA
GCTGAAAAGGAACATTAAGCGGGACAAAAAATGCCGATTTTATTTATGAAAGTGGGTACTTAAT
AAATGAGTCGTTATACTATGCATAAAGAAAAATCCTAGCAGTATTGTCAGGTGGTGGTGCGCCG
GCATTGATTTTAGGGCAGATAAAAGAATTCTGTGTGAGAGCTTTATGTTTCTCTTTTAATTCAG
AGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACTTGACTTTGAAATATTCCTGTTGGTCATGAT
CAAGGATATTTGAAATCACTACTGTGTTTTGCTGCGTATCTGGGGCGGGGGCAGGTTGGGGGGC
ACAAAGTTAACATATTCTTGGTTAACCATGGTTAAATATGCTATTTTAATAAATTATTGAAACT
CACCA

hide sequence

RefSeq Acc Id:

NR_165308

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI
T2T-CHM13v2.0	2	106,554,193 - 106,655,255 (-)	NCBI

Sequence:

show sequence

GCATTGTGCAGCAGGCGGGCCCCCGCGCGGTAGGGCCCTGGACCCGCGCGGCTCCCGGGGATGG
TGAGCAAGGCGCTGCTGCGCCTCGTGTCTGCCGTCAACCGCAGGAGGATGAAGCTGCTGCTGGG
CATCGCCTTGCTGGCCTACGTCGCCTCTGTTTGGGGCAACTTCGTTAATATGAGCTTTCTACTC
AACAGGTCTATCCAGGAAAATGGTGAACTAAAAATTGAAAGCAAGATTGAAGAGATGGTTGAAC
CACTAAGAGAGAAAATCAGAGATTTAGAAAAAAGCTTTACCCAGAAATACCCACCAGTAAAGTT
TTTATCAGAAAAGGATCGGAAAAGAATTTTGTTTTAAGTCGTGGCTGCACCAGAGATGTCTCTC
CGTGGAGCTGGTCCTCACTGTGTTCTCATGTGCTTTTTCTGGGAATGCTCTGCACACGCTGTCC
GGATGCAGATAACAGGAGGCGCAGGGTTCGTGGGCTCCCATCTAACTGACAAACTCATGATGGA
CGGCCACGAGGTGACCGTGGTGGACAATTTCTTCACGGGCAGGAAGAGAAACGTGGAGCACTGG
ATCGGACATGAGAACTTCGAGTTGATTAACCACGACGTGGTGGAGCCCCTCTACATCGAGGTTG
ACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAACTACATGTATAATCCTATCAAGAC
ATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGCTGGCAAAACGAGTCGGTGCCCGT
CTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGAAGTCCACCCTCAAAGTGAGGATT
ACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTACGATGAAGGCAAACGTGTTGCAGA
GACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAGTGCGAGTGGCCAGAATCTTCAAC
ACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGTCAGCAACTTCATCCTGCAGGCGC
TCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAGACAAGGGCGTTCCAGTACGTCAG
CGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACGTCAGCAGCCCGGTCAACCTGGGG
AACCCAGAAGAACACACAATCCTAGAATTTGCTCAGTTAATTAAAAACCTTGTTGGTAGCGGAA
GTGAAATTCAGTTTCTCTCCGAAGCCCAGGATGACCCACAGAAAAGAAAACCAGACATCAAAAA
AGCAAAGCTGATGCTGGGGTGGGAGCCCGTGGTCCCGCTGGAGGAAGGTTTAAACAAAGCAATT
CACTACTTCCGTAAAGAACTCGAGTACCAGGCAAATAATCAGTACATCCCCAAACCAAAGCCTG
CCAGAATAAAGAAAGGACGGACTCGCCACAGCTGAACTCCTCACTTTTAGGACACAAGACTACC
ATTGTACACTTGATGGGATGTATTTTTGGCTTTTTTTTGTTGTCGTTTAAAGAAAGACTTTAAC
AGGTGTCATGAAGAACAAACTGGAATTTCATTCTGAAGCTTGCTTTAATGAAATGGATGTGCCT
AAAAGCTCCCCTCAAAAAACTGCAGATTTTGCCTTGCACTTTTTGAATCTCTCTTTTTATGTAA
AATAGCGTAGATGCATCTCTGCGTATTTTCAAGTTTTTTTATCTTGCTGTGAGAGCATATGTTG
TGACTGTCGTTGACAGTTTTATTTACTGGTTTCTTTGTGAAGCTGAAAAGGAACATTAAGCGGG
ACAAAAAATGCCGATTTTATTTATGAAAGTGGGTACTTAATAAATGAGTCGTTATACTATGCAT
AAAGAAAAATCCTAGCAGTATTGTCAGGTGGTGGTGCGCCGGCATTGATTTTAGGGCAGATAAA
AGAATTCTGTGTGAGAGCTTTATGTTTCTCTTTTAATTCAGAGTTTTTCCAAGGTCTACTTTTG
AGTTGCAAACTTGACTTTGAAATATTCCTGTTGGTCATGATCAAGGATATTTGAAATCACTACT
GTGTTTTGCTGCGTATCTGGGGCGGGGGCAGGTTGGGGGGCACAAAGTTAACATATTCTTGGTT
AACCATGGTTAAATATGCTATTTTAATAAATTATTGAAACTCACCA

hide sequence

RefSeq Acc Id:

XM_011511902 ⟹ XP_011510204

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI

Sequence:

show sequence

ATCTATTCGTTGGGAATGTTTTAATTGATGCTATTAATACGTTACCAAGTAGCAAAATTGGACT
AGAAATAGCTCCCAGTGTGAGCTGCGTTTGAATGCTAGCCACCCAGACACACACTGAAATGAAA
TCACCTGCTAACCTGTTGGCGTTACCAAGATCTGATTCCAGAGCTGTTTGGGGCAACTTCGTTA
ATATGAGCTTTCTACTCAACAGGTCTATCCAGGAAAATGGTGAACTAAAAATTGAAAGCAAGAT
TGAAGAGATGGTTGAACCACTAAGAGAGAAAATCAGAGATTTAGAAAAAAGCTTTACCCAGAAA
TACCCACCAGTAAAGTTTTTATCAGAAAAGGATCGGAAAAGAATTTTGATAACAGGAGGCGCAG
GGTTCGTGGGCTCCCATCTAACTGACAAACTCATGATGGACGGCCACGAGGTGACCGTGGTGGA
CAATTTCTTCACGGGCAGGAAGAGAAACGTGGAGCACTGGATCGGACATGAGAACTTCGAGTTG
ATTAACCACGACGTGGTGGAGCCCCTCTACATCGAGGTTGACCAGATATACCATCTGGCATCTC
CAGCCTCCCCTCCAAACTACATGTATAATCCTATCAAGACATTAAAGACCAATACGATTGGGAC
ATTAAACATGTTGGGGCTGGCAAAACGAGTCGGTGCCCGTCTGCTCCTGGCCTCCACATCGGAG
GTGTATGGAGATCCTGAAGTCCACCCTCAAAGTGAGGATTACTGGGGCCACGTGAATCCAATAG
GACCTCGGGCCTGCTACGATGAAGGCAAACGTGTTGCAGAGACCATGTGCTATGCCTACATGAA
GCAGGAAGGCGTGGAAGTGCGAGTGGCCAGAATCTTCAACACCTTTGGGCCACGCATGCACATG
AACGATGGGCGAGTAGTCAGCAACTTCATCCTGCAGGCGCTCCAGGGGGAGCCACTCACGGTAT
ACGGATCCGGGTCTCAGACAAGGGCGTTCCAGTACGTCAGCGATCTAGTGAATGGCCTCGTGGC
TCTCATGAACAGCAACGTCAGCAGCCCGGTCAACCTGGGGAACCCAGAAGAACACACAATCCTA
GAATTTGCTCAGTTAATTAAAAACCTTGTTGGTAGCGGAAGTGAAATTCAGTTTCTCTCCGAAG
CCCAGGATGACCCACAGAAAAGAAAACCAGACATCAAAAAAGCAAAGCTGATGCTGGGGTGGGA
GCCCGTGGTCCCGCTGGAGGAAGGTTTAAACAAAGCAATTCACTACTTCCGTAAAGAACTCGAG
TACCAGGCAAATAATCAGTACATCCCCAAACCAAAGCCTGCCAGAATAAAGAAAGGACGGACTC
GCCACAGCTGAACTCCTCACTTTTAGGACACAAGACTACCATTGTACACTTGATGGGATGTATT
TTTGGCTTTTTTTTGTTGTCGTTTAAAGAAAGACTTTAACAGGTGTCATGAAGAACAAACTGGA
ATTTCATTCTGAAGCTTGCTTTAATGAAATGGATGTGCCTAAAAGCTCCCCTCAAAAAACTGCA
GATTTTGCCTTGCACTTTTTGAATCTCTCTTTTTATGTAAAATAGCGTAGATGCATCTCTGCGT
ATTTTCAAGTTTTTTTATCTTGCTGTGAGAGCATATGTTGTGACTGTCGTTGACAGTTTTATTT
ACTGGTTTCTTTGTGAAGCTGAAAAGGAACATTAAGCGGGACAAAAAATGCCGATTTTATTTAT
GAAAGTGGGTACTTAATAAATGAGTCGTTATACTATGCATAAAGAAAAATCCTAGCAGTATTGT
CAGGTGGTGGTGCGCCGGCATTGATTTTAGGGCAGATAAAAGAATTCTGTGTGAGAGCTTTATG
TTTCTCTTTTAATTCAGAGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACTTGACTTTGAAATA
TTCCTGTTGGTCATGATCAAGGATATTTGAAATCA

hide sequence

RefSeq Acc Id:

XM_011511903 ⟹ XP_011510205

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,194,301 (-)	NCBI

Sequence:

show sequence

CTATTCGTTGGGAATGTTTTAATTGATGCTATTAATACGTTACCAAGTAGCAAAATTGGACTAG
AAATAGCTCCCAGTGTGAGCTGCGTTTGAATGCTAGCCACCCAGACACACACTGAAATGAAATC
ACCTGCTAACCTGTTGGCGTTACCAAGATCTGATTCCAGAGCTGTTTGGGGCAACTTCGTTAAT
ATGAGGTCTATCCAGGAAAATGGTGAACTAAAAATTGAAAGCAAGATTGAAGAGATGGTTGAAC
CACTAAGAGAGAAAATCAGAGATTTAGAAAAAAGCTTTACCCAGAAATACCCACCAGTAAAGTT
TTTATCAGAAAAGGATCGGAAAAGAATTTTGATAACAGGAGGCGCAGGGTTCGTGGGCTCCCAT
CTAACTGACAAACTCATGATGGACGGCCACGAGGTGACCGTGGTGGACAATTTCTTCACGGGCA
GGAAGAGAAACGTGGAGCACTGGATCGGACATGAGAACTTCGAGTTGATTAACCACGACGTGGT
GGAGCCCCTCTACATCGAGGTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAAC
TACATGTATAATCCTATCAAGACATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGC
TGGCAAAACGAGTCGGTGCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGA
AGTCCACCCTCAAAGTGAGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTAC
GATGAAGGCAAACGTGTTGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAG
TGCGAGTGGCCAGAATCTTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGT
CAGCAACTTCATCCTGCAGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAG
ACAAGGGCGTTCCAGTACGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACG
TCAGCAGCCCGGTCAACCTGGGGAACCCAGAAGAACACACAATCCTAGAATTTGCTCAGTTAAT
TAAAAACCTTGTTGGTAGCGGAAGTGAAATTCAGTTTCTCTCCGAAGCCCAGGATGACCCACAG
AAAAGAAAACCAGACATCAAAAAAGCAAAGCTGATGCTGGGGTGGGAGCCCGTGGTCCCGCTGG
AGGAAGGTTTAAACAAAGCAATTCACTACTTCCGTAAAGAACTCGAGTACCAGGCAAATAATCA
GTACATCCCCAAACCAAAGCCTGCCAGAATAAAGAAAGGACGGACTCGCCACAGCTGAACTCCT
CACTTTTAGGACACAAGACTACCATTGTACACTTGATGGGATGTATTTTTGGCTTTTTTTTGTT
GTCGTTTAAAGAAAGACTTTAACAGGTGTCATGAAGAACAAACTGGAATTTCATTCTGAAGCTT
GCTTTAATGAAATGGATGTGCCTAAAAGCTCCCCTCAAAAAACTGCAGATTTTGCCTTGCACTT
TTTGAATCTCTCTTTTTATGTAAAATAGCGTAGATGCATCTCTGCGTATTTTCAAGTTTTTTTA
TCTTGCTGTGAGAGCATATGTTGTGACTGTCGTTGACAGTTTTATTTACTGGTTTCTTTGTGAA
GCTGAAAAGGAACATTAAGCGGGACAAAAAATGCCGATTTTATTTATGAAAGTGGGTACTTAAT
AAATGAGTCGTTATACTATGCATAAAGAAAAATCCTAGCAGTATTGTCAGGTGGTGGTGCGCCG
GCATTGATTTTAGGGCAGATAAAAGAATTCTGTGTGAGAGCTTTATGTTTCTCTTTTAATTCAG
AGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACTTGACTTTGAAATATTCCTGTTGGTCATGAT
CAAGGATATTTGAAATCA

hide sequence

RefSeq Acc Id:

XM_024453157 ⟹ XP_024308925

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,158,076 (-)	NCBI

Sequence:

show sequence

AGGATCGGAAAAGAATTTTGTTGACCAGATATACCATCTGGCATCTCCAGCCTCCCCTCCAAAC
TACATGTATAATCCTATCAAGACATTAAAGACCAATACGATTGGGACATTAAACATGTTGGGGC
TGGCAAAACGAGTCGGTGCCCGTCTGCTCCTGGCCTCCACATCGGAGGTGTATGGAGATCCTGA
AGTCCACCCTCAAAGTGAGGATTACTGGGGCCACGTGAATCCAATAGGACCTCGGGCCTGCTAC
GATGAAGGCAAACGTGTTGCAGAGACCATGTGCTATGCCTACATGAAGCAGGAAGGCGTGGAAG
TGCGAGTGGCCAGAATCTTCAACACCTTTGGGCCACGCATGCACATGAACGATGGGCGAGTAGT
CAGCAACTTCATCCTGCAGGCGCTCCAGGGGGAGCCACTCACGGTATACGGATCCGGGTCTCAG
ACAAGGGCGTTCCAGTACGTCAGCGATCTAGTGAATGGCCTCGTGGCTCTCATGAACAGCAACG
TCAGCAGCCCGGTCAACCTGGGGAACCCAGAAGAACACACAATCCTAGAATTTGCTCAGTTAAT
TAAAAACCTTGTTGGTAGCGGAAGTGAAATTCAGTTTCTCTCCGAAGCCCAGGATGACCCACAG
AAAAGAAAACCAGACATCAAAAAAGCAAAGCTGATGCTGGGGTGGGAGCCCGTGGTCCCGCTGG
AGGAAGGTTTAAACAAAGCAATTCACTACTTCCGTAAAGAACTCGAGTACCAGGCAAATAATCA
GTACATCCCCAAACCAAAGCCTGCCAGAATAAAGAAAGGACGGACTCGCCACAGCTGAACTCCT
CACTTTTAGGACACAAGACTACCATTGTACACTTGATGGGATGTATTTTTGGCTTTTTTTTGTT
GTCGTTTAAAGAAAGACTTTAACAGGTGTCATGAAGAACAAACTGGAATTTCATTCTGAAGCTT
GCTTTAATGAAATGGATGTGCCTAAAAGCTCCCCTCAAAAAACTGCAGATTTTGCCTTGCACTT
TTTGAATCTCTCTTTTTATGTAAAATAGCGTAGATGCATCTCTGCGTATTTTCAAGTTTTTTTA
TCTTGCTGTGAGAGCATATGTTGTGACTGTCGTTGACAGTTTTATTTACTGGTTTCTTTGTGAA
GCTGAAAAGGAACATTAAGCGGGACAAAAAATGCCGATTTTATTTATGAAAGTGGGTACTTAAT
AAATGAGTCGTTATACTATGCATAAAGAAAAATCCTAGCAGTATTGTCAGGTGGTGGTGCGCCG
GCATTGATTTTAGGGCAGATAAAAGAATTCTGTGTGAGAGCTTTATGTTTCTCTTTTAATTCAG
AGTTTTTCCAAGGTCTACTTTTGAGTTGCAAACTTGACTTTGAAATATTCCTGTTGGTCATGAT
CAAGGATATTTGAAATCACTACTGTGTTTTGCTGCGTATCTGGGGCGGGGGCAGGTTGGGGGGC
ACAAAGTTAACATATTCTTGGTTAACCATGGTTAAATATGCTATTTTAATAAATTATTGAAACT
CACCAGTCATGGA

hide sequence

RefSeq Acc Id:

XM_047445918 ⟹ XP_047301874

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,093,311 - 106,193,996 (-)	NCBI

RefSeq Acc Id:

XM_054344035 ⟹ XP_054200010

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	106,554,193 - 106,655,253 (-)	NCBI

RefSeq Acc Id:

XM_054344036 ⟹ XP_054200011

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	106,554,193 - 106,655,253 (-)	NCBI

RefSeq Acc Id:

XM_054344037 ⟹ XP_054200012

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	106,554,193 - 106,624,606 (-)	NCBI

RefSeq Acc Id:

XM_054344038 ⟹ XP_054200013

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	106,554,193 - 106,625,619 (-)	NCBI

RefSeq Acc Id:

XM_054344039 ⟹ XP_054200014

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	106,554,193 - 106,654,950 (-)	NCBI

RefSeq Acc Id:

XM_054344040 ⟹ XP_054200015

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	106,554,193 - 106,618,988 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001240804	(Get FASTA)	NCBI Sequence Viewer
	NP_001240805	(Get FASTA)	NCBI Sequence Viewer
	NP_001364433	(Get FASTA)	NCBI Sequence Viewer
	NP_001364434	(Get FASTA)	NCBI Sequence Viewer
	NP_001364435	(Get FASTA)	NCBI Sequence Viewer
	NP_001364436	(Get FASTA)	NCBI Sequence Viewer
	NP_001364437	(Get FASTA)	NCBI Sequence Viewer
	NP_001364438	(Get FASTA)	NCBI Sequence Viewer
	NP_079352	(Get FASTA)	NCBI Sequence Viewer
	XP_011510204	(Get FASTA)	NCBI Sequence Viewer
	XP_011510205	(Get FASTA)	NCBI Sequence Viewer
	XP_024308925	(Get FASTA)	NCBI Sequence Viewer
	XP_047301874	(Get FASTA)	NCBI Sequence Viewer
	XP_054200010	(Get FASTA)	NCBI Sequence Viewer
	XP_054200011	(Get FASTA)	NCBI Sequence Viewer
	XP_054200012	(Get FASTA)	NCBI Sequence Viewer
	XP_054200013	(Get FASTA)	NCBI Sequence Viewer
	XP_054200014	(Get FASTA)	NCBI Sequence Viewer
	XP_054200015	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH09819	(Get FASTA)	NCBI Sequence Viewer
	AAN39844	(Get FASTA)	NCBI Sequence Viewer
	AAQ88905	(Get FASTA)	NCBI Sequence Viewer
	AAY15085	(Get FASTA)	NCBI Sequence Viewer
	BAB15705	(Get FASTA)	NCBI Sequence Viewer
	BAC11415	(Get FASTA)	NCBI Sequence Viewer
	BAC11448	(Get FASTA)	NCBI Sequence Viewer
	BAF83357	(Get FASTA)	NCBI Sequence Viewer
	BAG53673	(Get FASTA)	NCBI Sequence Viewer
	BAG65609	(Get FASTA)	NCBI Sequence Viewer
	CAD39099	(Get FASTA)	NCBI Sequence Viewer
	CAF86373	(Get FASTA)	NCBI Sequence Viewer
	CAF86438	(Get FASTA)	NCBI Sequence Viewer
	EAX01747	(Get FASTA)	NCBI Sequence Viewer
	EAX01748	(Get FASTA)	NCBI Sequence Viewer
	EAX01749	(Get FASTA)	NCBI Sequence Viewer
	EAX01750	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000283148
	ENSP00000283148.7
	ENSP00000387019
	ENSP00000387019.3
	ENSP00000387096
	ENSP00000387096.1
	ENSP00000397049.1
	ENSP00000399316.1
	ENSP00000403612.1
	ENSP00000404468.1
	ENSP00000416656.1
	ENSP00000502305.1
	ENSP00000502335.1
	ENSP00000502540.1
GenBank Protein	Q8NBZ7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_079352 ⟸ NM_025076
- Peptide Label:	isoform 2
- UniProtKB:	Q8NBX3 (UniProtKB/Swiss-Prot), Q9H5C2 (UniProtKB/Swiss-Prot), Q8NBZ7 (UniProtKB/Swiss-Prot), A8K3Q3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVSKALLRLVSAVNRRRMKLLLGIALLAYVASVWGNFVNMRSIQENGELKIESKIEEMVEPLRE KIRDLEKSFTQKYPPVKFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRN VEHWIGHENFELINHDVVEPLYIEVDQIYHLASPASPPNYMYNPIKTLKTNTIGTLNMLGLAKR VGARLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAETMCYAYMKQEGVEVRVA RIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSP VNLGNPEEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGL NKAIHYFRKELEYQANNQYIPKPKPARIKKGRTRHS hide sequence

RefSeq Acc Id:	NP_001240804 ⟸ NM_001253875
- Peptide Label:	isoform 1
- UniProtKB:	A8K3Q3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVSKALLRLVSAVNRRRMKLLLGIALLAYVASVWGNFVNMSFLLNRSIQENGELKIESKIEEMV EPLREKIRDLEKSFTQKYPPVKFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFT GRKRNVEHWIGHENFELINHDVVEPLYIEVDQIYHLASPASPPNYMYNPIKTLKTNTIGTLNML GLAKRVGARLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAETMCYAYMKQEGV EVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNS NVSSPVNLGNPEEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVP LEEGLNKAIHYFRKELEYQANNQYIPKPKPARIKKGRTRHS hide sequence

RefSeq Acc Id:	NP_001240805 ⟸ NM_001253876
- Peptide Label:	isoform 3
- UniProtKB:	Q8NBZ7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MYNPIKTLKTNTIGTLNMLGLAKRVGARLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYD EGKRVAETMCYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQT RAFQYVSDLVNGLVALMNSNVSSPVNLGNPEEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQK RKPDIKKAKLMLGWEPVVPLEEGLNKAIHYFRKELEYQANNQYIPKPKPARIKKGRTRHS hide sequence

RefSeq Acc Id:	XP_011510205 ⟸ XM_011511903
- Peptide Label:	isoform X2
- UniProtKB:	A8K3Q3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLATQTHTEMKSPANLLALPRSDSRAVWGNFVNMRSIQENGELKIESKIEEMVEPLREKIRDLE KSFTQKYPPVKFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIG HENFELINHDVVEPLYIEVDQIYHLASPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGARLL LASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAETMCYAYMKQEGVEVRVARIFNTF GPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSPVNLGNP EEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGLNKAIHY FRKELEYQANNQYIPKPKPARIKKGRTRHS hide sequence

RefSeq Acc Id:	XP_011510204 ⟸ XM_011511902
- Peptide Label:	isoform X1
- UniProtKB:	A8K3Q3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLATQTHTEMKSPANLLALPRSDSRAVWGNFVNMSFLLNRSIQENGELKIESKIEEMVEPLREK IRDLEKSFTQKYPPVKFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNV EHWIGHENFELINHDVVEPLYIEVDQIYHLASPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRV GARLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAETMCYAYMKQEGVEVRVAR IFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSPV NLGNPEEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGLN KAIHYFRKELEYQANNQYIPKPKPARIKKGRTRHS hide sequence

RefSeq Acc Id:

XP_024308925 ⟸ XM_024453157

- Peptide Label:

isoform X4

- Sequence:

show sequence

MYNPIKTLKTNTIGTLNMLGLAKRVGARLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYD
EGKRVAETMCYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQT
RAFQYVSDLVNGLVALMNSNVSSPVNLGNPEEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQK
RKPDIKKAKLMLGWEPVVPLEEGLNKAIHYFRKELEYQANNQYIPKPKPARIKKGRTRHS

hide sequence

RefSeq Acc Id:	NP_001364434 ⟸ NM_001377505
- Peptide Label:	isoform 5
- UniProtKB:	A8K3Q3 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001364437 ⟸ NM_001377508
- Peptide Label:	isoform 8
- UniProtKB:	A8K3Q3 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001364433 ⟸ NM_001377504
- Peptide Label:	isoform 4
- UniProtKB:	A8K3Q3 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001364436 ⟸ NM_001377507
- Peptide Label:	isoform 7
- UniProtKB:	A8K3Q3 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001364435 ⟸ NM_001377506
- Peptide Label:	isoform 6
- UniProtKB:	A8K3Q3 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001364438 ⟸ NM_001377509
- Peptide Label:	isoform 9

RefSeq Acc Id:

ENSP00000283148 ⟸ ENST00000283148

RefSeq Acc Id:

ENSP00000416656 ⟸ ENST00000441952

RefSeq Acc Id:

ENSP00000403612 ⟸ ENST00000416298

RefSeq Acc Id:

ENSP00000399316 ⟸ ENST00000457835

RefSeq Acc Id:

ENSP00000404468 ⟸ ENST00000444193

RefSeq Acc Id:

ENSP00000387096 ⟸ ENST00000409032

RefSeq Acc Id:

ENSP00000387019 ⟸ ENST00000409501

RefSeq Acc Id:

ENSP00000397049 ⟸ ENST00000436241

RefSeq Acc Id:	XP_047301874 ⟸ XM_047445918
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054200011 ⟸ XM_054344036
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054200010 ⟸ XM_054344035
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054200014 ⟸ XM_054344039
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054200013 ⟸ XM_054344038
- Peptide Label:	isoform X6
- UniProtKB:	B3KV61 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054200012 ⟸ XM_054344037
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054200015 ⟸ XM_054344040
- Peptide Label:	isoform X4

Protein Domains

NAD(P)-binding NAD-dependent epimerase/dehydratase UDP-glucuronate decarboxylase N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NBZ7-F1-model_v2	AlphaFold	Q8NBZ7	1-420	view protein structure

Promoters

RGD ID:

6798429

Promoter ID:

HG_KWN:34285

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell

Transcripts:

OTTHUMT00000329789

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	106,087,106 - 106,087,606 (-)	MPROMDB

RGD ID:

6798430

Promoter ID:

HG_KWN:34286

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour

Transcripts:

OTTHUMT00000329788, UC002TDL.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	106,120,919 - 106,121,419 (-)	MPROMDB

RGD ID:

6798425

Promoter ID:

HG_KWN:34287

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000329783, OTTHUMT00000329784, OTTHUMT00000329785, OTTHUMT00000329786

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	106,143,016 - 106,143,957 (-)	MPROMDB

RGD ID:

6798426

Promoter ID:

HG_KWN:34290

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000409501, NM_025076, OTTHUMT00000329781, OTTHUMT00000329782, OTTHUMT00000329787, UC002TDO.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	106,177,046 - 106,177,552 (-)	MPROMDB

RGD ID:

6861252

Promoter ID:

EPDNEW_H3791

Type:

initiation region

Name:

UXS1_1

Description:

UDP-glucuronate decarboxylase 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	106,194,299 - 106,194,359	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17729	AgrOrtholog
COSMIC	UXS1	COSMIC
Ensembl Genes	ENSG00000115652	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000283148	ENTREZGENE
	ENST00000283148.12	UniProtKB/Swiss-Prot
	ENST00000409032	ENTREZGENE
	ENST00000409032.5	UniProtKB/Swiss-Prot
	ENST00000409501	ENTREZGENE
	ENST00000409501.7	UniProtKB/Swiss-Prot
	ENST00000416298.5	UniProtKB/TrEMBL
	ENST00000436241.1	UniProtKB/TrEMBL
	ENST00000441952.5	UniProtKB/TrEMBL
	ENST00000444193.5	UniProtKB/TrEMBL
	ENST00000457835.5	UniProtKB/TrEMBL
	ENST00000479621.5	UniProtKB/TrEMBL
	ENST00000479774.5	UniProtKB/TrEMBL
	ENST00000483426.5	UniProtKB/TrEMBL
Gene3D-CATH	NAD(P)-binding Rossmann-like Domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UDP-galactose 4-epimerase, domain 1	UniProtKB/TrEMBL
GTEx	ENSG00000115652	GTEx
HGNC ID	HGNC:17729	ENTREZGENE
Human Proteome Map	UXS1	Human Proteome Map
InterPro	Epimerase_deHydtase_N	UniProtKB/TrEMBL
	NAD(P)-bd_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	NAD(P)-bd_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UXS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UXS1_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:80146	UniProtKB/Swiss-Prot
NCBI Gene	80146	ENTREZGENE
OMIM	609749	OMIM
PANTHER	PTHR43078	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UDP-GLUCURONIC ACID DECARBOXYLASE 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Epimerase	UniProtKB/TrEMBL
	GDP_Man_Dehyd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UXS1_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA38465	PharmGKB
Superfamily-SCOP	SSF51735	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A6Q8PGM4_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGN2_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PH60_HUMAN	UniProtKB/TrEMBL
	A8K3Q3	ENTREZGENE, UniProtKB/TrEMBL
	B3KV61	ENTREZGENE, UniProtKB/TrEMBL
	C9J3T9_HUMAN	UniProtKB/TrEMBL
	C9JCB7_HUMAN	UniProtKB/TrEMBL
	C9JE50_HUMAN	UniProtKB/TrEMBL
	C9JFU6_HUMAN	UniProtKB/TrEMBL
	C9JW33_HUMAN	UniProtKB/TrEMBL
	Q8NBX3	ENTREZGENE
	Q8NBZ7	ENTREZGENE
	Q9H5C2	ENTREZGENE
	UXS1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q8NBX3	UniProtKB/Swiss-Prot
	Q9H5C2	UniProtKB/Swiss-Prot

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Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

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Imported Annotations - KEGG (archival)