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Gene: DDI2 (DNA damage inducible 1 homolog 2) Homo sapiens

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Symbol:

DDI2

Name:

DNA damage inducible 1 homolog 2

RGD ID:

1603951

HGNC Page

HGNC:24578

Description:

Enables aspartic-type endopeptidase activity; identical protein binding activity; and ubiquitin binding activity. Involved in several processes, including cellular response to hydroxyurea; proteolysis; and regulation of DNA stability. Located in cytosol and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DDI1, DNA-damage inducible 1, homolog 2; DNA-damage inducible 1 homolog 2; DNA-damage inducible protein 2 (DDI2); MGC14844; protein DDI1 homolog 2; RP4-680D5.5

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):	Ddi2 (DNA-damage inducible protein 2)	HGNC	EggNOG, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ddi2 (DNA damage inducible 1 homolog 2)	HGNC	Ensembl, HomoloGene, OMA, OrthoDB, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ddi2 (DNA damage inducible 1 homolog 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	DDI2 (DNA damage inducible 1 homolog 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	DDI2 (DNA damage inducible 1 homolog 2)	HGNC	EggNOG, Ensembl, HomoloGene, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	DDI2 (DNA damage inducible 1 homolog 2)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Ddi1 (DNA-damage inducible 1 homolog 1)	HGNC	OrthoDB
Mus musculus (house mouse):	Ddi1 (DNA-damage inducible 1)	HGNC	OrthoDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ddi2 (DNA damage inducible 1 homolog 2)	Alliance	DIOPT (HGNC\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ddi2 (DNA-damage inducible protein 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ddi2 (DNA-damage inducible protein 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	DDI1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	ddi-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	rngo	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ddi2.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ddi2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ddi2.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	15,617,458 - 15,669,044 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	15,617,458 - 15,669,044 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	15,943,953 - 15,995,539 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	15,816,657 - 15,859,335 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	14,426,817 - 14,470,431 (+)	NCBI		Celera
Cytogenetic Map	1	p36.21	NCBI
HuRef	1	14,463,422 - 14,506,965 (+)	NCBI		HuRef
CHM1_1	1	15,742,627 - 15,786,290 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	15,062,171 - 15,113,775 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

chromosome 1p36 deletion syndrome (IAGP)

genetic disease (IAGP)

Hereditary Pancreatitis (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP,ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

2,6-dimethoxyphenol (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

4-hydroxyphenyl retinamide (ISO)

aflatoxin B1 (ISO)

Aflatoxin B2 alpha (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol AF (EXP)

bisphenol F (ISO)

butanal (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

diarsenic trioxide (EXP)

Dibutyl phosphate (EXP)

dicrotophos (EXP)

disodium selenite (EXP)

folic acid (ISO)

furfural (EXP)

hydrogen cyanide (ISO)

hydrogen peroxide (EXP)

ivermectin (EXP)

leflunomide (EXP)

metformin (ISO)

methapyrilene (EXP)

paracetamol (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

pirinixic acid (ISO)

potassium cyanide (ISO)

sodium arsenate (ISO)

sodium arsenite (EXP)

sodium chloride (EXP)

theophylline (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

triphenyl phosphate (EXP)

troglitazone (ISO)

tungsten (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to hydroxyurea (IMP)

proteasomal protein catabolic process (IMP)

protein processing (IDA,IMP)

proteolysis (IEA)

regulation of DNA stability (IMP)

regulation of protein stability (IMP)

Cellular Component

chromosome (IEA)

cytoplasm (IEA)

cytosol (IDA,IEA)

nucleoplasm (IDA)

Molecular Function

aspartic-type endopeptidase activity (IDA,IEA)

hydrolase activity (IEA)

identical protein binding (IDA)

peptidase activity (IEA)

protein binding (IPI)

ubiquitin binding (IDA)

References

References - curated

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

Additional References at PubMed

PMID:12477932	PMID:12838346	PMID:14702039	PMID:15146197	PMID:19193609	PMID:20379614	PMID:22863883	PMID:23824909	PMID:26186194	PMID:26344197	PMID:27114451	PMID:27432908
PMID:27461074	PMID:27528193	PMID:27676298	PMID:28190767	PMID:28514442	PMID:29290612	PMID:29507755	PMID:29676528	PMID:30021884	PMID:32521225	PMID:32807901	PMID:32814053
PMID:33001583	PMID:33277362	PMID:33961781	PMID:34649278	PMID:34761751	PMID:35007762	PMID:35016035	PMID:35032548	PMID:35256949	PMID:35358511	PMID:35509820	PMID:35559673
PMID:35589686	PMID:35831314	PMID:35944360	PMID:36114006	PMID:36215168	PMID:36248746	PMID:36520320	PMID:37071682	PMID:37084817	PMID:37350545	PMID:38803224

Genomics

Comparative Map Data

DDI2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	15,617,458 - 15,669,044 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	15,617,458 - 15,669,044 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	15,943,953 - 15,995,539 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	15,816,657 - 15,859,335 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	14,426,817 - 14,470,431 (+)	NCBI		Celera
Cytogenetic Map	1	p36.21	NCBI
HuRef	1	14,463,422 - 14,506,965 (+)	NCBI		HuRef
CHM1_1	1	15,742,627 - 15,786,290 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	15,062,171 - 15,113,775 (+)	NCBI		T2T-CHM13v2.0

Ddi2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	141,410,874 - 141,450,730 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	141,404,860 - 141,450,743 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	141,683,563 - 141,723,419 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	141,677,549 - 141,723,419 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	141,239,478 - 141,279,334 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	140,955,639 - 140,995,495 (-)	NCBI		MGSCv36	mm8
Celera	4	143,507,133 - 143,546,916 (-)	NCBI		Celera
Cytogenetic Map	4	D3	NCBI
cM Map	4	74.69	NCBI

Ddi2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	159,272,625 - 159,318,365 (-)	NCBI		GRCr8
mRatBN7.2	5	153,989,591 - 154,035,342 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	153,995,589 - 154,035,283 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	156,674,824 - 156,720,295 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	158,448,107 - 158,493,578 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	158,437,257 - 158,482,731 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	160,230,958 - 160,282,836 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	160,230,955 - 160,282,810 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	163,945,355 - 163,995,230 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	160,582,315 - 160,621,531 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	160,587,176 - 160,631,541 (-)	NCBI
Celera	5	152,349,276 - 152,388,832 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Ddi2
(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	NW_004955527	2,498,211 - 2,534,768 (-)	NCBI	ChiLan1.0	ChiLan1.0

DDI2
(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	1	211,247,481 - 211,301,116 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	210,496,015 - 210,549,655 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	14,757,327 - 14,810,959 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	15,749,497 - 15,795,631 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	15,749,497 - 15,790,263 (+)	Ensembl	panpan1.1		panPan2
PanPan1.1 Ensembl	1	15,793,469 - 15,795,325 (+)	Ensembl	panpan1.1		panPan2

DDI2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	81,915,613 - 81,957,803 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	78,459,544 - 78,495,093 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	82,570,756 - 82,606,321 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	82,570,758 - 82,606,257 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	79,323,680 - 79,359,224 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	80,342,173 - 80,377,711 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	81,407,500 - 81,443,055 (-)	NCBI		UU_Cfam_GSD_1.0

DDI2
(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	20	116,640,166 - 116,680,403 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666054	20,167,661 - 20,222,435 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in DDI2
79 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	copy number loss	See cases [RCV000051146]	Chr1:15385267..20980349 [GRCh38] Chr1:15711763..21306842 [GRCh37] Chr1:15584350..21179429 [NCBI36] Chr1:1p36.21-36.12	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]\|See cases [RCV000051795]	Chr1:6853513..17326813 [GRCh38] Chr1:6913573..17685411 [GRCh37] Chr1:6836160..17557998 [NCBI36] Chr1:1p36.31-36.13	pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3	copy number gain	See cases [RCV000051797]	Chr1:13110797..20670207 [GRCh38] Chr1:13178269..20996700 [GRCh37] Chr1:13100856..20869287 [NCBI36] Chr1:1p36.21-36.12	pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	copy number gain	See cases [RCV000051799]	Chr1:13619979..18466172 [GRCh38] Chr1:13946474..18792666 [GRCh37] Chr1:13819061..18665253 [NCBI36] Chr1:1p36.21-36.13	pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	copy number loss	See cases [RCV000053714]	Chr1:3006193..17688934 [GRCh38] Chr1:2922757..18015429 [GRCh37] Chr1:2912617..17888016 [NCBI36] Chr1:1p36.32-36.13	pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1	copy number loss	See cases [RCV000053760]	Chr1:10556797..22557907 [GRCh38] Chr1:10616854..22884400 [GRCh37] Chr1:10539441..22756987 [NCBI36] Chr1:1p36.22-36.12	pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	copy number loss	See cases [RCV000053763]	Chr1:10621776..16520709 [GRCh38] Chr1:10681833..16847204 [GRCh37] Chr1:10604420..16719791 [NCBI36] Chr1:1p36.22-36.13	pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	copy number loss	See cases [RCV000053765]	Chr1:10809039..16422500 [GRCh38] Chr1:10869096..16748995 [GRCh37] Chr1:10791683..16621582 [NCBI36] Chr1:1p36.22-36.13	pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	copy number loss	See cases [RCV000053766]	Chr1:11121625..16324498 [GRCh38] Chr1:11181682..16650993 [GRCh37] Chr1:11104269..16523580 [NCBI36] Chr1:1p36.22-36.13	pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-18242678)x1	copy number loss	See cases [RCV000053769]	Chr1:15173497..18242678 [GRCh38] Chr1:15499993..18569172 [GRCh37] Chr1:15372580..18441759 [NCBI36] Chr1:1p36.21-36.13	pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-17019576)x1	copy number loss	See cases [RCV000053771]	Chr1:15173497..17019576 [GRCh38] Chr1:15499993..17346071 [GRCh37] Chr1:15372580..17218658 [NCBI36] Chr1:1p36.21-36.13	pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	copy number loss	See cases [RCV000053756]	Chr1:9034671..16441465 [GRCh38] Chr1:9094730..16767960 [GRCh37] Chr1:9017317..16640547 [NCBI36] Chr1:1p36.23-36.13	pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	copy number loss	See cases [RCV000135597]	Chr1:15052047..16499873 [GRCh38] Chr1:15378543..16826368 [GRCh37] Chr1:15251130..16698955 [NCBI36] Chr1:1p36.21-36.13	likely pathogenic\|uncertain significance
GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	copy number loss	See cases [RCV000137720]	Chr1:12724785..16034788 [GRCh38] Chr1:12784752..16361283 [GRCh37] Chr1:12707339..16233870 [NCBI36] Chr1:1p36.21-36.13	pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	copy number loss	See cases [RCV000137948]	Chr1:6303641..15799093 [GRCh38] Chr1:6363701..16125588 [GRCh37] Chr1:6286288..15998175 [NCBI36] Chr1:1p36.31-36.21	pathogenic\|likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	copy number loss	See cases [RCV000140873]	Chr1:9428538..15815791 [GRCh38] Chr1:9488597..16142286 [GRCh37] Chr1:9411184..16014873 [NCBI36] Chr1:1p36.22-36.21	pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	copy number loss	See cases [RCV000141438]	Chr1:10264397..15780840 [GRCh38] Chr1:10324455..16107335 [GRCh37] Chr1:10247042..15979922 [NCBI36] Chr1:1p36.22-36.21	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	copy number gain	See cases [RCV000142906]	Chr1:6554885..16056011 [GRCh38] Chr1:6614945..16382506 [GRCh37] Chr1:6537532..16255093 [NCBI36] Chr1:1p36.31-36.13	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	copy number loss	See cases [RCV000142771]	Chr1:5363826..18360302 [GRCh38] Chr1:5423886..18686796 [GRCh37] Chr1:5323746..18559383 [NCBI36] Chr1:1p36.31-36.13	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1	copy number loss	See cases [RCV000446470]	Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12	pathogenic
GRCh37/hg19 1p36.21-36.13(chr1:13178371-19961858)x1	copy number loss	See cases [RCV000447987]	Chr1:13178371..19961858 [GRCh37] Chr1:1p36.21-36.13	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_032341.5(DDI2):c.958A>G (p.Met320Val)	single nucleotide variant	not specified [RCV004310387]	Chr1:15649788 [GRCh38] Chr1:15976283 [GRCh37] Chr1:1p36.21	uncertain significance
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	copy number loss	See cases [RCV000512226]	Chr1:8850514..16272383 [GRCh37] Chr1:1p36.23-36.13	likely pathogenic
NC_000001.10:g.(?_15764961)_(16063358_?)del	deletion	Hereditary pancreatitis [RCV000708522]	Chr1:15764961..16063358 [GRCh37] Chr1:1p36.21	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
NM_006511.3(RSC1A1):c.347G>A (p.Arg116Lys)	single nucleotide variant	not specified [RCV004284643]	Chr1:15660215 [GRCh38] Chr1:15986710 [GRCh37] Chr1:1p36.21	uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
NC_000001.11:g.10115497_16283149dup	duplication	not specified [RCV002286386]	Chr1:10115497..16283149 [GRCh38] Chr1:1p36.22-36.13	likely pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	copy number loss	not provided [RCV002474779]	Chr1:6758933..19287770 [GRCh37] Chr1:1p36.31-36.13	pathogenic
NM_006511.3(RSC1A1):c.1054A>G (p.Ile352Val)	single nucleotide variant	not specified [RCV004169444]	Chr1:15660922 [GRCh38] Chr1:15987417 [GRCh37] Chr1:1p36.21	likely benign
NM_032341.5(DDI2):c.350A>T (p.Gln117Leu)	single nucleotide variant	not specified [RCV004116701]	Chr1:15630406 [GRCh38] Chr1:15956901 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.671A>G (p.Asn224Ser)	single nucleotide variant	not specified [RCV004133022]	Chr1:15660539 [GRCh38] Chr1:15987034 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.281T>C (p.Ile94Thr)	single nucleotide variant	not specified [RCV004092522]	Chr1:15630337 [GRCh38] Chr1:15956832 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1058C>T (p.Thr353Met)	single nucleotide variant	not specified [RCV004197545]	Chr1:15660926 [GRCh38] Chr1:15987421 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.494C>G (p.Pro165Arg)	single nucleotide variant	not specified [RCV004084590]	Chr1:15660362 [GRCh38] Chr1:15986857 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.185T>G (p.Phe62Cys)	single nucleotide variant	not specified [RCV004118799]	Chr1:15660053 [GRCh38] Chr1:15986548 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.852T>A (p.Asn284Lys)	single nucleotide variant	not specified [RCV004133318]	Chr1:15660720 [GRCh38] Chr1:15987215 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.728C>T (p.Ser243Leu)	single nucleotide variant	not specified [RCV004114217]	Chr1:15660596 [GRCh38] Chr1:15987091 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.356A>G (p.His119Arg)	single nucleotide variant	not specified [RCV004123364]	Chr1:15630412 [GRCh38] Chr1:15956907 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.373C>T (p.Leu125Phe)	single nucleotide variant	not specified [RCV004190383]	Chr1:15660241 [GRCh38] Chr1:15986736 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.449C>G (p.Ser150Cys)	single nucleotide variant	not specified [RCV004154307]	Chr1:15630505 [GRCh38] Chr1:15957000 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1613C>T (p.Thr538Ile)	single nucleotide variant	not specified [RCV004093577]	Chr1:15661481 [GRCh38] Chr1:15987976 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.807T>A (p.Asn269Lys)	single nucleotide variant	not specified [RCV004166334]	Chr1:15660675 [GRCh38] Chr1:15987170 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1033G>A (p.Ala345Thr)	single nucleotide variant	not specified [RCV004177444]	Chr1:15660901 [GRCh38] Chr1:15987396 [GRCh37] Chr1:1p36.21	likely benign
NM_006511.3(RSC1A1):c.568C>A (p.Leu190Ile)	single nucleotide variant	not specified [RCV004125648]	Chr1:15660436 [GRCh38] Chr1:15986931 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.551C>T (p.Ser184Leu)	single nucleotide variant	not specified [RCV004106633]	Chr1:15660419 [GRCh38] Chr1:15986914 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1009A>T (p.Ser337Cys)	single nucleotide variant	not specified [RCV004322507]	Chr1:15660877 [GRCh38] Chr1:15987372 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.329T>C (p.Leu110Pro)	single nucleotide variant	not specified [RCV004271222]	Chr1:15660197 [GRCh38] Chr1:15986692 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1292G>T (p.Gly431Val)	single nucleotide variant	not specified [RCV004255321]	Chr1:15661160 [GRCh38] Chr1:15987655 [GRCh37] Chr1:1p36.21	likely benign
NM_006511.3(RSC1A1):c.1258A>G (p.Ile420Val)	single nucleotide variant	not specified [RCV004262723]	Chr1:15661126 [GRCh38] Chr1:15987621 [GRCh37] Chr1:1p36.21	likely benign
NM_006511.3(RSC1A1):c.986A>G (p.Tyr329Cys)	single nucleotide variant	not specified [RCV004282160]	Chr1:15660854 [GRCh38] Chr1:15987349 [GRCh37] Chr1:1p36.21	likely benign
NM_006511.3(RSC1A1):c.772C>G (p.Leu258Val)	single nucleotide variant	not specified [RCV004268834]	Chr1:15660640 [GRCh38] Chr1:15987135 [GRCh37] Chr1:1p36.21	uncertain significance
NC_000001.10:g.4481271_20530242del	deletion	Chromosome 1p36 deletion syndrome [RCV003159574]	Chr1:4481271..20530242 [GRCh37] Chr1:1p36.32-36.12	pathogenic
NM_006511.3(RSC1A1):c.369T>G (p.Phe123Leu)	single nucleotide variant	not specified [RCV004333795]	Chr1:15660237 [GRCh38] Chr1:15986732 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.1116T>C (p.Asp372=)	single nucleotide variant	not provided [RCV003422636]	Chr1:15651828 [GRCh38] Chr1:15978323 [GRCh37] Chr1:1p36.21	likely benign
NM_006511.3(RSC1A1):c.311T>G (p.Ile104Arg)	single nucleotide variant	not specified [RCV004346489]	Chr1:15660179 [GRCh38] Chr1:15986674 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.614A>T (p.Asn205Ile)	single nucleotide variant	not specified [RCV004338738]	Chr1:15660482 [GRCh38] Chr1:15986977 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.224A>G (p.Gln75Arg)	single nucleotide variant	not specified [RCV004354419]	Chr1:15660092 [GRCh38] Chr1:15986587 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.116C>T (p.Pro39Leu)	single nucleotide variant	not specified [RCV004341867]	Chr1:15659984 [GRCh38] Chr1:15986479 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1003T>C (p.Cys335Arg)	single nucleotide variant	not specified [RCV004342447]	Chr1:15660871 [GRCh38] Chr1:15987366 [GRCh37] Chr1:1p36.21	uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
NM_032341.5(DDI2):c.90C>T (p.Phe30=)	single nucleotide variant	not provided [RCV003422635]	Chr1:15617760 [GRCh38] Chr1:15944255 [GRCh37] Chr1:1p36.21	uncertain significance
GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	copy number loss	not specified [RCV003986640]	Chr1:13922015..16013972 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.1190A>G (p.Gln397Arg)	single nucleotide variant	not specified [RCV004375544]	Chr1:15656623 [GRCh38] Chr1:15983118 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1744C>T (p.Arg582Cys)	single nucleotide variant	not specified [RCV004454477]	Chr1:15661612 [GRCh38] Chr1:15988107 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.760G>C (p.Ala254Pro)	single nucleotide variant	not specified [RCV004454484]	Chr1:15660628 [GRCh38] Chr1:15987123 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.714A>T (p.Glu238Asp)	single nucleotide variant	not specified [RCV004454483]	Chr1:15660582 [GRCh38] Chr1:15987077 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1739T>G (p.Ile580Ser)	single nucleotide variant	not specified [RCV004454476]	Chr1:15661607 [GRCh38] Chr1:15988102 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.439C>G (p.Leu147Val)	single nucleotide variant	not specified [RCV004454482]	Chr1:15660307 [GRCh38] Chr1:15986802 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1745G>A (p.Arg582His)	single nucleotide variant	not specified [RCV004454478]	Chr1:15661613 [GRCh38] Chr1:15988108 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.886C>T (p.Pro296Ser)	single nucleotide variant	not specified [RCV004454485]	Chr1:15660754 [GRCh38] Chr1:15987249 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.952G>A (p.Glu318Lys)	single nucleotide variant	not specified [RCV004454486]	Chr1:15660820 [GRCh38] Chr1:15987315 [GRCh37] Chr1:1p36.21	uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	copy number loss	not provided [RCV004577440]	Chr1:4436802..22782007 [GRCh37] Chr1:1p36.32-36.12	pathogenic
NM_006511.3(RSC1A1):c.1530A>C (p.Gln510His)	single nucleotide variant	not specified [RCV004454474]	Chr1:15661398 [GRCh38] Chr1:15987893 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1730T>C (p.Ile577Thr)	single nucleotide variant	not specified [RCV004454475]	Chr1:15661598 [GRCh38] Chr1:15988093 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1846C>T (p.Pro616Ser)	single nucleotide variant	not specified [RCV004454479]	Chr1:15661714 [GRCh38] Chr1:15988209 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.238C>T (p.His80Tyr)	single nucleotide variant	not specified [RCV004454480]	Chr1:15660106 [GRCh38] Chr1:15986601 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1534A>C (p.Lys512Gln)	single nucleotide variant	not specified [RCV004660991]	Chr1:15661402 [GRCh38] Chr1:15987897 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.403G>A (p.Val135Ile)	single nucleotide variant	not specified [RCV004660993]	Chr1:15660271 [GRCh38] Chr1:15986766 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1564A>G (p.Lys522Glu)	single nucleotide variant	not specified [RCV004660995]	Chr1:15661432 [GRCh38] Chr1:15987927 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1784A>G (p.His595Arg)	single nucleotide variant	not specified [RCV004660992]	Chr1:15661652 [GRCh38] Chr1:15988147 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.824T>C (p.Ile275Thr)	single nucleotide variant	not specified [RCV004674302]	Chr1:15660692 [GRCh38] Chr1:15987187 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.512C>T (p.Pro171Leu)	single nucleotide variant	not specified [RCV004674301]	Chr1:15660380 [GRCh38] Chr1:15986875 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1445A>G (p.Asn482Ser)	single nucleotide variant	not specified [RCV004660994]	Chr1:15661313 [GRCh38] Chr1:15987808 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1001T>G (p.Leu334Arg)	single nucleotide variant	not specified [RCV004674303]	Chr1:15660869 [GRCh38] Chr1:15987364 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.995C>T (p.Pro332Leu)	single nucleotide variant	not specified [RCV004861064]	Chr1:15660863 [GRCh38] Chr1:15987358 [GRCh37] Chr1:1p36.21	likely benign
NM_006511.3(RSC1A1):c.845T>C (p.Leu282Ser)	single nucleotide variant	not specified [RCV004861068]	Chr1:15660713 [GRCh38] Chr1:15987208 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1699C>A (p.Leu567Ile)	single nucleotide variant	not specified [RCV004861069]	Chr1:15661567 [GRCh38] Chr1:15988062 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.389A>G (p.Glu130Gly)	single nucleotide variant	not specified [RCV004861067]	Chr1:15660257 [GRCh38] Chr1:15986752 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.412A>G (p.Thr138Ala)	single nucleotide variant	not specified [RCV004861062]	Chr1:15660280 [GRCh38] Chr1:15986775 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1555A>C (p.Ile519Leu)	single nucleotide variant	not specified [RCV004861063]	Chr1:15661423 [GRCh38] Chr1:15987918 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.197C>A (p.Ser66Tyr)	single nucleotide variant	not specified [RCV004861066]	Chr1:15660065 [GRCh38] Chr1:15986560 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1049C>T (p.Pro350Leu)	single nucleotide variant	not specified [RCV004861065]	Chr1:15660917 [GRCh38] Chr1:15987412 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.650A>C (p.Lys217Thr)	single nucleotide variant	not specified [RCV004855109]	Chr1:15660518 [GRCh38] Chr1:15987013 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1761G>T (p.Leu587Phe)	single nucleotide variant	not specified [RCV004855110]	Chr1:15661629 [GRCh38] Chr1:15988124 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.217T>C (p.Ser73Pro)	single nucleotide variant	not specified [RCV004855111]	Chr1:15660085 [GRCh38] Chr1:15986580 [GRCh37] Chr1:1p36.21	likely benign
NM_006511.3(RSC1A1):c.1824G>C (p.Leu608Phe)	single nucleotide variant	not specified [RCV004855112]	Chr1:15661692 [GRCh38] Chr1:15988187 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.257A>G (p.His86Arg)	single nucleotide variant	not specified [RCV004855113]	Chr1:15660125 [GRCh38] Chr1:15986620 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.1109G>A (p.Arg370Lys)	single nucleotide variant	not specified [RCV004900167]	Chr1:15651821 [GRCh38] Chr1:15978316 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.329G>A (p.Arg110His)	single nucleotide variant	not specified [RCV004906119]	Chr1:15630385 [GRCh38] Chr1:15956880 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.322C>T (p.Arg108Trp)	single nucleotide variant	not specified [RCV004906120]	Chr1:15630378 [GRCh38] Chr1:15956873 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.5T>A (p.Leu2Gln)	single nucleotide variant	not specified [RCV004906122]	Chr1:15617675 [GRCh38] Chr1:15944170 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.650A>C (p.Glu217Ala)	single nucleotide variant	not specified [RCV004906123]	Chr1:15638324 [GRCh38] Chr1:15964819 [GRCh37] Chr1:1p36.21	uncertain significance
NM_032341.5(DDI2):c.932C>G (p.Ser311Cys)	single nucleotide variant	not specified [RCV004906121]	Chr1:15649762 [GRCh38] Chr1:15976257 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1412G>A (p.Arg471His)	single nucleotide variant	not specified [RCV004855107]	Chr1:15661280 [GRCh38] Chr1:15987775 [GRCh37] Chr1:1p36.21	uncertain significance
NM_006511.3(RSC1A1):c.1525G>A (p.Glu509Lys)	single nucleotide variant	not specified [RCV004855108]	Chr1:15661393 [GRCh38] Chr1:15987888 [GRCh37] Chr1:1p36.21	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	4921
Count of miRNA genes:	1359
Interacting mature miRNAs:	1784
Transcripts:	ENST00000320153, ENST00000480945, ENST00000483899, ENST00000486680, ENST00000546927, ENST00000548451
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1298451	OSTEAR17_H	Osteoarthritis QTL 17 (human)	2.4	0.0004	Joint/bone inflammation	osteoarthritis	11	1	25188105	Human
597052022	GWAS1148096_H	systolic blood pressure QTL GWAS1148096 (human)		8e-15	systolic blood pressure	systolic blood pressure (CMO:0000004)	1	15647250	15647251	Human
597461982	GWAS1558056_H	diastolic blood pressure QTL GWAS1558056 (human)		2e-10	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	1	15648742	15648743	Human
597195518	GWAS1291592_H	systolic blood pressure QTL GWAS1291592 (human)		2e-22	systolic blood pressure	systolic blood pressure (CMO:0000004)	1	15647250	15647251	Human
597326898	GWAS1422972_H	body mass index QTL GWAS1422972 (human)		5e-08	body mass index	body mass index (BMI) (CMO:0000105)	1	15667108	15667109	Human
597062751	GWAS1158825_H	alcoholic pancreatitis QTL GWAS1158825 (human)		3e-08	alcoholic pancreatitis		1	15618437	15618438	Human
597133726	GWAS1229800_H	pulse pressure measurement QTL GWAS1229800 (human)		1e-20	pulse pressure measurement	pulse pressure (CMO:0000292)	1	15647250	15647251	Human
1298463	BP9_H	Blood pressure QTL 9 (human)	3.9		Blood pressure	hypertension susceptibility	1	1	25188105	Human
597325910	GWAS1421984_H	body mass index QTL GWAS1421984 (human)		0.000003	body mass index	body mass index (BMI) (CMO:0000105)	1	15667108	15667109	Human
1643380	BW316_H	Body weight QTL 316 (human)	2.62	0.0002	Body weight	BMI	1	7585503	33585503	Human
1576329	MYI9_H	Myocardial infarction susceptibility QTL 9 (human)	12		Myocardial infarction susceptibility	early-onset	1	7585503	33585503	Human
597039652	GWAS1135726_H	pulse pressure measurement QTL GWAS1135726 (human)		2e-10	pulse pressure measurement	pulse pressure (CMO:0000292)	1	15649492	15649493	Human
407054837	GWAS703813_H	chronotype measurement QTL GWAS703813 (human)		4e-13	sleep behavior trait (VT:0001501)		1	15640218	15640219	Human
597058017	GWAS1154091_H	chronotype measurement QTL GWAS1154091 (human)		3e-08	sleep behavior trait (VT:0001501)		1	15640218	15640219	Human
597129997	GWAS1226071_H	diastolic blood pressure QTL GWAS1226071 (human)		5e-09	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	1	15647250	15647251	Human
597228132	GWAS1324206_H	chronotype measurement QTL GWAS1324206 (human)		3e-16	sleep behavior trait (VT:0001501)		1	15640218	15640219	Human
1576325	MYI1_H	Myocardial infarction susceptibility QTL 1 (human)	11.68	1e-12	Myocardial infarction susceptibility	early-onset	1	7585503	33585503	Human

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2433	2788	2247	4962	1725	2349	6	622	1948	464	2268	7293	6462	52	3726	851	1740	1616	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_032341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK057374	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL598343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BN000122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471167	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN261722	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000320153 ⟹ ENSP00000449475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	15,630,402 - 15,661,057 (+)	Ensembl

Ensembl Acc Id:

ENST00000480945 ⟹ ENSP00000417748

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	15,617,458 - 15,669,044 (+)	Ensembl

Ensembl Acc Id:

ENST00000483899 ⟹ ENSP00000448878

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	15,630,425 - 15,649,823 (+)	Ensembl

Ensembl Acc Id:

ENST00000486680

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	15,617,543 - 15,634,306 (+)	Ensembl

Ensembl Acc Id:

ENST00000546927

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	15,617,615 - 15,627,066 (+)	Ensembl

Ensembl Acc Id:

ENST00000548451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	15,651,836 - 15,656,985 (+)	Ensembl

Ensembl Acc Id:

ENST00000711098 ⟹ ENSP00000518576

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	15,617,458 - 15,669,044 (+)	Ensembl

Ensembl Acc Id:

ENST00000711099 ⟹ ENSP00000518577

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	15,617,458 - 15,669,044 (+)	Ensembl

RefSeq Acc Id:

NM_032341 ⟹ NP_115717

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	15,617,458 - 15,669,044 (+)	NCBI
GRCh37	1	15,943,953 - 15,995,539 (+)	NCBI
Build 36	1	15,816,657 - 15,859,335 (+)	NCBI Archive
Celera	1	14,426,817 - 14,470,431 (+)	RGD
HuRef	1	14,463,422 - 14,506,965 (+)	ENTREZGENE
CHM1_1	1	15,742,627 - 15,786,290 (+)	NCBI
T2T-CHM13v2.0	1	15,062,171 - 15,113,775 (+)	NCBI

Sequence:

show sequence

AGACGGACTCGCAGGCGTGTGGCGGCGGCCGTGCTTGCTAGTGAGGGCGGGAGGGAGTGACTCA
CTGAGCGTGTGTGAGGGAGGGAGCGAGCGAGCGAACGAGCAGCCGGCGCCGTCCTCCCGCAGCA
CCAGCCAGGCCACGCCGCCGCCTCTTCCCCTGCGCCCCGCGCCCAGGCCGGGCCGAGCCGAGCC
GAGCCGGGTCGGGCCCGGGCCATGCTGCTCACCGTGTACTGTGTGCGGAGGGACCTCTCCGAGG
TGACCTTTTCCCTCCAGGTCGACGCCGACTTCGAGCTGCACAACTTCCGCGCGCTGTGCGAGCT
CGAGTCTGGCATCCCCGCAGCCGAGAGCCAGATCGTCTATGCGGAAAGACCTCTCACAGACAAC
CACAGATCATTGGCTTCTTATGGCTTGAAAGATGGGGACGTTGTGATTTTACGACAGAAGGAGA
ATGCAGACCCTCGACCTCCAGTGCAGTTCCCAAACTTACCCCGAATAGATTTCAGTAGTATAGC
TGTGCCTGGCACATCAAGTCCCCGGCAGCGCCAGCCACCAGGAACACAGCAGTCCCACTCATCT
CCTGGAGAAATAACTTCATCTCCTCAGGGCTTGGACAATCCAGCCTTGCTCCGAGATATGTTGC
TGGCCAACCCGCATGAGCTGTCCTTGCTGAAGGAACGCAATCCACCCCTGGCAGAAGCTCTGCT
CAGTGGAGACCTTGAGAAATTTTCTAGAGTCCTGGTGGAGCAGCAGCAGGACCGAGCCCGGAGA
GAGCAAGAAAGGATTCGTCTGTTTTCTGCTGATCCCTTTGACCTTGAAGCTCAGGCAAAGATAG
AAGAAGATATAAGGCAACAGAACATTGAGGAAAACATGACAATAGCTATGGAAGAGGCTCCGGA
AAGTTTTGGCCAAGTAGTGATGCTTTATATTAACTGCAAAGTGAATGGACATCCTGTGAAAGCC
TTTGTTGACTCAGGTGCCCAGATGACTATCATGAGCCAAGCTTGTGCAGAAAGGTGTAACATAA
TGAGACTGGTGGACCGTCGGTGGGCAGGGATTGCCAAAGGAGTGGGCACCCAGAAGATTATTGG
AAGGGTACATCTAGCTCAGGTTCAGATTGAAGGAGATTTTTTGCCATGTTCCTTCTCTATACTT
GAGGAACAGCCCATGGACATGCTTCTGGGACTGGACATGCTTAAACGGCACCAGTGTTCCATCG
ACCTGAAGAAAAATGTACTCGTGATCGGCACCACAGGCTCCCAGACCACCTTTCTTCCTGAGGG
AGAGCTACCAGAGTGTGCCCGGTTGGCATATGGGGCTGGAAGAGAGGATGTACGGCCAGAGGAG
ATTGCAGACCAAGAATTAGCAGAAGCCCTTCAAAAATCAGCAGAGGATGCAGAGCGTCAGAAGC
CATGATGCATGTAGTGTGTGTGTACTGCAGCTGGAGTGGGCCCCAGACCAGAGAAAAGTGGTAA
AGAATCTACCTCACTGGGAATGTCATCATTACCAACTTCAGATGGGTTTAACCATCCCGCCCGT
TCTTCAGGACAGAGTCCTGATGTTGGTAATCCTATGAGTCTTGCTCGCTCTGTCTCTGCTTCAG
TCTGCCCTATCAAGCCCAGTGACTCAGATCGCATTGAACCTAAAGCTGTGAAGGCTTTGAAGGC
TTCAGCTGAATTCCAGCTAAACTCTGAAAAGAAAGAACATCTTTCTTTACAAGATCTTTCTGAT
CATGCTTCCTCAGCAGACCATGCTCCAACAGACCAGAGTCCAGCTATGCCTATGCAGAATTCAT
CCGAAGAAATAACTGTTGCAGGTAATCTGGAGAAATCTGCTGAAAGAAGCACCCAGGGCCTCAA
ATTTCATCTCCATACAAGACAGGAAGCTAGTTTATCTGTCACATCTACTAGGATGCATGAACCA
CAGATGTTTCTAGGTGAAAAGGATTGGCATCCAGAAAATCAGAACCTGAGTCAAGTGAGTGACC
CTCAGCAGCACGAAGAACCAGGGAATGAACAGTATGAGGTTGCACAACAAAAAGCTTCACATGA
CCAAGAATATCTTTGTAACATAGGGGACCTTGAGCTTCCTGAAGAAAGGCAACAGAATCAACAC
AAAATTGTTGATTTGGAAGCTACGATGAAAGGAAATGGGCTCCCACAGAATGTGGATCCTCCAA
GTGCGAAGAAAAGTATTCCATCTTCAGAATGCAGTGGCTGCTCAAATTCAGAAACATTTATGGA
AATCGATACAGCTCAACAGTCCCTAGTTACTTTGCTTAATTCAACAGGCAGGCAGAATGCCAAT
GTCAAGAACATTGGTGCATTGGATCTCACTTTAGATAATCCCTTGATGGAAGTAGAAACATCAA
AATGTAACCCTTCATCTGAAATTTTGAATGATTCCATTTCCACTCAGGATTTACAGCCCCCAGA
AACTAATGTTGAAATACCTGGAACAAATAAAGAATATGGCCATTACTCCTCTCCAAGTCTCTGT
GGCAGTTGTCAGCCTTCTGTGGAGTCAGCAGAAGAATCTTGCCCGTCTATAACGGCAGCCTTGA
AAGAACTTCATGAACTTTTGGTTGTTAGCAGTAAACCAGCTTCAGAAAATACATCTGAAGAAGT
AATCTGTCAATCAGAAACCATAGCTGAGGGCCAAACCAGTATTAAAGACCTTTCTGAAAGATGG
ACCCAAAATGAGCATCTTACCCAGAATGAACAGTGTCCACAAGTCTCCTTTCATCAGGCCATAT
CTGTATCAGTGGAGACAGAAAAATTAACAGGTACTTCATCTGACACTGGAAGAGAAGCTGTAGA
AAATGTAAACTTCAGGAGTCTAGGTGATGGCCTGTCAACCGATAAGGAAGGTGTCCCCAAATCT
AGGGAATCCATAAATAAGAACCGTTCTGTCACTGTAACCTCAGCTAAAACATCCAATCAGTTAC
ACTGCACCTTAGGTGTAGAAATTTCACCCAAACTTTTAGCAGGTGAGGAGGATGCACTCAATCA
GACTTCTGAGCAAACTAAGTCTTTGTCATCCAATTTCATATTGGTTAAAGACTTAGGTCAGGGC
ATACAGAATTCAGTAACAGACAGGCCTGAAACCAGAGAAAATGTCTGTCCTGATGCTTCGAGGC
CATTACTTGAATATGAACCACCTACCAGCCATCCATCATCAAGTCCTGCCATTCTTCCACCATT
GATTTTTCCTGCCACAGATATTGACCGCATTCTCCGTGCTGGCTTTACTTTGCAGGAAGCTCTT
GGAGCTTTGCATCGAGTTGGTGGGAATGCAGACCTTGCACTTCTTGTTTTGCTCGCAAAAAACA
TCGTAGTTCCTACATGACTGTGGGAAAGTGGGCTAGACCGTTCTCCATTCCCTTTAAACAAAAG
AAAGCTCTCTCTATATACACGCACACATACACACTCACCACATATACAGTATATATAGAAACCT
GCAAGCAGAATGTTGAGCCAGATTTTTTTTAAAGATTTTTTTCGGCCAAAGTAATTTATGATCT
TTTGTCTGATGAATTTGTCTATCCTACTTGTTAAAATTTAGGCCTTTTTAAATGTATTGGCAGT
ATGTGCATACAGAAGCTTTTTATTCTCATTAAGATGTATCCTGGAATAAAATGGATGGTTTTGT
GTGTAGCATACTGTTTTAGAATGAGAGTAAATGCTTTGAAAAGCAGAAGCCATGAGAAATCCCA
CTACCCATCCAGCTAAAAACAGATGAACTCTCCACACTGTGACTGTGTGTCTGTGCTGATGGCA
AGGTATGGTTTGCTGGCTCAGTTGTCAATTTAGAAACTTTTGACCACATAATTTGGTGTTTGGA
ATTCTACCCAGTGCTCTGTGTATCATGATTCATTAATTATAACAGGAAATTGGAGAATAATTGA
ATATCTTATCGTAGAGTGGTATGTTTTTATTTGTGTGCTTAGGATTTGACATTTTAATAGGGCG
AGCAGGAGGGTTTAAATCTTGGGCTACTTTGTGCATCACAGGCTGCTGCATGGATTGCCATGAA
TCCTTATTACATTGGATGGGATATTGTGGGGGAGTTACAATGCAAGTGAAACGTGGTGCTACCC
AGATTCTTAAAAGAACAGAACAACCATAATTCCATTTGCAGATGTCAAGAACTGTGAGGGAAAA
ATAATGGCCTAAACACTGGAATTTGCTAGAGTTTGGGTTTGCTAGCATCTCACTGATAACACCT
CAACCCTTAATGACTAATGGTGGAATTAAGTTCAGGAATGGATTCATTGCCAGCAGCTTATTTC
CTTTCTAGACTCTTCTGCCAGGAAGTTCTTCAAACGCTCAGTGTGAGCTGTGATCTGAGTGAAA
TACTAAGTGTGATAACCTTGTCACTGGTTAATCTTGGTGCTTGGAACGGTCAGTCTATTTGGAG
AGTGTCCTTTGTGGCAGTGGAAATAGTAATTACAGTTTCTGACTTAAGTGGCCTTGGTAGAGTT
TTCCATCCTTTTCTTTCCTCAGGAGTTTCTTTTTTAAGCAAAATTCATCTTATTTGTGTTTACC
ATGTCAAGTTAGAGTGGGGCATAATATATAGATGTATTTATTGTGGCCTTTTTTTATATAAGGA
CTAGCCCTTGGAAATCATTGTCCTGTGGGCCCCACTGTGCAATAATCCTACTGGATAGGTTTTA
GATAATTCTTTCCTGGCAAACTGCTCTTTTGGGTACCTAGCAGGAATCTGAAGTCTTGGTTTTA
TTGAAAAGAATTTTGAGATTCATAATTTCTGATTCTAGATTATAGTTTGTAACATGTTTGAAAC
AGAAGCTTCGAAAGAGTGATTTCTCAACTTAGTGTTAAATGATTTTGTCTGAAGTCTGACTCTT
TGTAAGCTTGTTTGTTTCATCAAATTTTAAGTCATTGAGCACAATCAAAATGGAGGCTCATATC
TCAGGAGTTTTTGAAATTTTAATTTAGGGGCACTTAGAGACATTTTTTTCTACCCCATCCAACT
TCTTTCTTTCCTTTTGCTATGATGTTTGTATGTATGTTATAAGACTTTAGTGATGGGATGGCGT
GTCACGTAGATTCATCATGATCCTTTATGTAGTTAGGAAATGGTTGACAGAAGGAATTGTAGTT
TACTGCTTTTCAGAGGGCGTGAAGAACAACAGGTCAGCCAGGTTGTCTTTAAGATGTTCTTTTA
GACAGCTGCACATTGTAGACCCTTTCACCTGCCCTACACCAAAGATGTACGATGCACTAGGAAA
CTGCTCATAGGATTTCTGTCAGCTGACTTAAAGCTGTGATTGTAATTAAATAGTTGGTGCTATG
ATTGATGCAAAATCTAGTAGCAATGCAATGGGACCCTGTATTTGCTTTATGGGTGGTGGTTTGG
GAATGTATTCTAAGCTTATAAATCTTTGGAACCACGGGGTGGGAAGGGTGGGGGAACTTACTGA
TGACAATAGACTCCCTCCTAAAGGGCCTTCCATGTAAGCAGAACGAACCTTGGCACACAATTCA
GTGTGGATATTTGGGAAACAGTTCCAAGTGGAATATATAATATCAGTCGGGAAAAGATTTCATT
AGGATAGCTTTTTGTGTATGTATATGTATATTTATTTTTAGGAATAGATCTATAGTTGTACATG
AATTCCTGTTAGGAATACTCTGAATGAGCTTAACCCACTTGCCAAATATCCTTGTCCCTTCCAT
CATTTTATTTTTGAGATGGGGTCTTGCAGTGTTGCCCAGGCTGGACTCAAACTCTGGGGCTTAA
TCATCCTTCTGAGTAGCTGGGACTACATAAAGGCCAAAGTATAATTGCTTTTGATTTTTAAAAT
CTTCTTGCCCATCATTTTTATAAAAATAAAGCTGTTTGTCCAACACGGTGAAACCTCATCTCTA
CTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGA
CTGAGGCAGGAGAATTGCTTGAACCTGGGAGATGGGGGTTGCAGTGAGCCTAGATCACGCCACT
GCACTCCAGTGTGGGCGGCAGAGTGAGACTCTGTCTCACCCAAAAAAAAAAAAAAAAAGCTATT
GACACTGTTAATATTTTGGATGACTTAAATTTAGCAGCTCTAGAATGCAAAGGGTATATTAAGG
AGCATTACAATAGTGAACCTTCATCGTCAGCTTTTATTCAATTAAGAGCTCCAGAAATGCAGAA
ATTATGGGTTAACTTCTAAGAATACCATCAAATCCCTGTGAATTCTGGTTGCCAACAGTAATAA
CCAGTAATGGGCACCTTTACCGGACAGCTCCTTTACCATAACCAGTAGTGGGCAGTTCTGCGGT
CAGCACTTAACTACAAGGGCGGTCTCTGTTTCTTCACCAGAGAGAGAAGATTTTCCTGTGTAAT
TTGTGCCATTTCCCTGAAGTTGGTTCTTGAGCGGAAAGATGTGCTTGGTAACCAGACAGCAGCT
TTACATAGGTTATAGATTTTGCTCATTGATGCTGTTAAGAATTATTTCCACTCATACCTGTTCA
GGGCTCCAGACAGCCAATAGCCTTCATCCCACAGTTTGGGCTTCAGCTATTAACACATAAAGAT
AACCAGTTGCAGCTAGGCTCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCG
GGTGGATCACCTGAGGGCAGGAGTTTGAGACAGGCCTGGCCAACATGGTGAAACTCCATCTCTA
CTAAAAATACAAAAATTAGCCGGGTGTGGTGGCCCATGCCTGTAATTCCAGCTACTCGGGAGGC
TGAGGCAGGAGAATCACTTAAACCTGGGAGGCGGAGGTTGTGGTGAGCAGAGATCACGCCATTG
CACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAGGTAACCAG
TTGCTTGGCAAAGGAAGCTGGAGAGATGGCGAGTGCATGTGTTAAAACTCTTCTGCCTTGCAGC
CCACATCTTCTAGAGCTCCCTGTCTTCATATGTACTAAAGGGAGACACAACCCTATGTGTTTTT
TCCCAAAGCATGTCTCTAGCAAGAGGGTACATAGAAATGGAACATGAGGCTTTTTGTCACTGAT
TTTATGATAACCAGTTAATGTGGAATCTGCTGGTTGTCTTACTACAGCTTTCTATCTCCGGTGA
AAGCCATAAAAATTTAGGTTAACTTTTAAGCTCATGTCTATATATATGTGTGTAAGCTAGCATA
TACATATGGTGATTGACAAGTATAGTTAATTTTATATGGATTTAAAAGCAAGCAATTTTTATAT
CTACAGACGTACTCTTCACTTATGGTGGCTTTTATCCCGCCACATATATAAATATATATATATA
TAGCAAACAGCCTTGCAAATCATCGGCCAGAAAAGCTGCAGGGCGTTGCAATGGCCTTTTCCTA
CCTGTTTGCCACCTGTGGTGAGGGTGAGCAGGATGATTGAACTGCTGCATATTTCAAACCTGTT
ATCACTGGCAGTGTGTCCCAAGAGAAGCTGACCAGATTATGCATTCTACTGTTCTCTAGCACAA
GTACTCACCAAAAAGCCAAATTTCCCCTTTGGAGTTGGTGACTTAGTGTAGTCTGTGGCTGACC
TAGAAAGACACAGAGTTATCAAGAGTTTCCCTTCCTAGAAGATGAATGTTACCTTTTGTGTTAG
GAGGTAGAGAAAATAAAAATAGCTTTTTTTTCCCTAGAATTGCTAATTACTCTTAACAACAAAT
TAAATTCAAAGCCTGTCCTTGAGAACTGGAAATGTAAAATCATGGTTCAAGTTTTATACCTTAG
TGATTCCTCAGTAGGTGTTACTAGGAGTTCACTGAATGAACTTAGGAGTGAACCTTCGATGTGC
TTGATTTTCTTTTGTGCCTTAGTTTCTCTGAATAGCAGAGGCATCAAATTTTGGTGGGGAATGA
GAGGAGTATTAGGGGAAAGTTTGAAAATAGCTCTCCTGGAGATGGAGGGCACACAGAGTGGTCC
TCAGGCTCACCTTGACTGAGTTGATTCACAGTTATCCTGCATCAGACCATTAGATTTCTTTAGT
GCTATGATTATAATAGGGATTTTTGAATCACCAAAAACAGTTTTTAGATGTTTATGTTCTTTGT
TTTACTATCAATGTTGTGCTGGTTAAGGGAGAGAAAAGTTCAAGAAGATCTTACATATTTGAAA
GGAAATTGGTACTCTTGAAGGCTATGCAACATGAGTCTTTGAACAAGAATTCCTTGCTACTTTG
ATTCATTCATCAAATACTGAGTGCCTGTGTGCCAGGCACAGGTGAACTCTGGGGATTCAGGGGT
AACTAAAACAGATTGGAACCCTGCCCTTGTGAAGCTTTCAGTCTAGAAGGGAGACGTGAAACAA
ATTTTAGCTTCAAAAGCAACATCTATTTTTGCCTGTTAGCATGCATTTATTTTAAAAGTCATAT
TAGAGTTACCTGGTTCCACTTCAGAGCAGACTGGGAAAATCAGGCTTACAATGGAATCAGATGC
TGTGGGCCTAAAACAGCTCTTTAAAAATCTATTTTTTTAGGCCAGGTGCGTTGGCTCACACCTG
TAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATATGAGGTCAGGAGGTCGAGACCAGCCTG
GCCAATATGATGAAACCTTACCTCTACTAAAAATAAAAAATTAGCCGGGCATGGTGGCACATGC
CTGTAGTCCCAGCTACTCGGGAAACTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTT
GCAGTGAGCCGGGATCACGTCACTGTACTCCAGCCTGGGCAAGAGTGAGACACCGTCTCAAAAA
AAAAAAAAATTTTTTTTTAAATGGAATCAGAGAAACCAACAAAATATGTAACATGTATAAATGC
CTGAGGAGATCAGTTATTGAGAAATCCATTTACAATGCTGGAGGAGAGGGGATGGCCAGGAAAG
AAGTGCAACAAATAAATGGAAGATGACCCTAAAAATGCACCAGTGACAGTCAGTCAATCCATCA
GACCACCTCACATGCAGGGTAGAAACATGGAGTGTGCGGCAGCATCCTCCTCACATCCCTTTGT
GAGCACGGCTGCTCCGGAATACTGACCATCTGGGCTAGCACGACTTAGCAGAGGGTTCTGCAGG
ATGTGCTATTTTAAAGCAGCTGGGTGCAACTTGTGAAAACGGGAATCTAGAGCAGAACATGTAA
TCAGCGATGGCTGGGATTGGTGGACAGGATTGACAGGAGTATTTGAGGCTCTACCAGGCCTGTC
TACAGGACAGCTTCATCAAAGGGACATTTTTTAACCTGTTATTTTAAATGCCACATATATGTTG
TAATGCTGAAGCATACAGGTAGAATTTCTGGATCGTAACTACTAGTGACTTCTGAGGTTTACAG
TTAGAAAATGTTCTCAAAGGTTTATCAGTTATGTATTGATGATTGGTAATCTAGACCCTCTGGA
GGCTGTAGAATGTGAAAAGATACAGCTGAGCTGACAAGTTTTAGGGCACTATCTTCTGGAATGA
AATCGGCCAAGAAAATGGTTCAAGGGCATGGGGGTTAGAGAATGTTTCTTTTACCTAAAAATGT
TAAGCCAACTATGGAAGATTGGGGTCGTGGGGGCATGAAATACAAAATTATGATAATTTATACA
GAACTAGGTTTCTTTATGTTCTGCAAGAAGGTTTTTATTAGCTAATTTGGGGAGGGGGGCATGC
TGCAGTATTTTTTTTCCTGGGAACATGCATTTCTGATGGGAAGTTATTTTGTTTACAAGAGTTG
GTTTTACACACAACCCTGAATGAATGTGTCTATGGCCTAAAAATGGTAGACCTGTATTTCCTTC
CCGAGGCAGGCTGATTCGTTTCCTGATTCCTTCTGTCTGAGATTACCTGATGCTGACCAGACTT
ATTTTTCCTTTCCTGAATCTTCACAGCTGAGTTTATGGCACCCATCCAAGACCTTCCCATTTGA
ATGACTAGATTTCTATTCTATCCCCGATCATCCTTTTGAAATAGTTCTAGTGATAAACTCAGAG
AAATTCAATATATTGATTGAATTTTATTTTTTCGCTTTGTATCTACAACAGAAATTGATTTGTT
CATTTTTATTTCAAATCTCTTCATGGCAAGTTGGGCTAATGGACTTTGCACTCAAGAAAGGTTT
GTTTACCAGTTTTGTAGCCATGTTTGGCAAATCTTAGCAACTAGAAACCCCGTCCTTTCTTTTC
CTTCTTTATATGTTCTTGCAGTTACTCTTGTATTGCAAGATTTTCTGACTTTAAGCTTTGAGAC
TACTGCATCTTAAAAGAAGAACTAGGCTGACTGGCAAAAAGTCTTGCCAGTGGCCCTGTCACTC
CCATGATGCTTTGGTTTTGAGAGTTGGGAAAACTCTGAGAACTTAAGGGAACCAAACTCAGGAA
TCCCAAAATTGGTGGCATTGTGCCATTCGTTTAGGGGCTGAACATAGGACCTGTCTGAAACTGA
GTGAGCTAGATGCATTTGGGTTTGAATTTTTGTCACATACTGAAATGTAAGTCAGCCCTAAATA
ATCAAAACACTTTATTTTATTTTTCTTTTTTTAAATAGGAACTTTCTGAAGAAAAAGTGGTGTG
TAAAACATTTGATATTTAAGACAATAAAGTTTTTATCATAAGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_115717	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH06011	(Get FASTA)	NCBI Sequence Viewer
	BAF85695	(Get FASTA)	NCBI Sequence Viewer
	CAD67552	(Get FASTA)	NCBI Sequence Viewer
	EAW51740	(Get FASTA)	NCBI Sequence Viewer
	EAW51741	(Get FASTA)	NCBI Sequence Viewer
	EAW51742	(Get FASTA)	NCBI Sequence Viewer
	EAW51743	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000417748
	ENSP00000417748.1
GenBank Protein	Q5TDH0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_115717 ⟸ NM_032341

- UniProtKB:

Q7RTZ0 (UniProtKB/Swiss-Prot), A8KAE1 (UniProtKB/Swiss-Prot), Q9BRT1 (UniProtKB/Swiss-Prot), Q5TDH0 (UniProtKB/Swiss-Prot), A0AA34QVV2 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MLLTVYCVRRDLSEVTFSLQVDADFELHNFRALCELESGIPAAESQIVYAERPLTDNHRSLASY
GLKDGDVVILRQKENADPRPPVQFPNLPRIDFSSIAVPGTSSPRQRQPPGTQQSHSSPGEITSS
PQGLDNPALLRDMLLANPHELSLLKERNPPLAEALLSGDLEKFSRVLVEQQQDRARREQERIRL
FSADPFDLEAQAKIEEDIRQQNIEENMTIAMEEAPESFGQVVMLYINCKVNGHPVKAFVDSGAQ
MTIMSQACAERCNIMRLVDRRWAGIAKGVGTQKIIGRVHLAQVQIEGDFLPCSFSILEEQPMDM
LLGLDMLKRHQCSIDLKKNVLVIGTTGSQTTFLPEGELPECARLAYGAGREDVRPEEIADQELA
EALQKSAEDAERQKP

hide sequence

Ensembl Acc Id:

ENSP00000449475 ⟸ ENST00000320153

Ensembl Acc Id:

ENSP00000417748 ⟸ ENST00000480945

Ensembl Acc Id:

ENSP00000448878 ⟸ ENST00000483899

Ensembl Acc Id:

ENSP00000518576 ⟸ ENST00000711098

Ensembl Acc Id:

ENSP00000518577 ⟸ ENST00000711099

Protein Domains

UBA Ubiquitin-like

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5TDH0-F1-model_v2	AlphaFold	Q5TDH0	1-399	view protein structure

Promoters

RGD ID:

6854212

Promoter ID:

EPDNEW_H271

Type:

initiation region

Name:

DDI2_1

Description:

DNA damage inducible 1 homolog 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H272

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	15,617,458 - 15,617,518	EPDNEW

RGD ID:

6854214

Promoter ID:

EPDNEW_H272

Type:

initiation region

Name:

DDI2_2

Description:

DNA damage inducible 1 homolog 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H271

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	15,617,562 - 15,617,622	EPDNEW

RGD ID:

6785007

Promoter ID:

HG_KWN:885

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:

ENST00000406234, OTTHUMT00000006826, OTTHUMT00000006827

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	15,815,956 - 15,816,702 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24578	AgrOrtholog
COSMIC	DDI2	COSMIC
Ensembl Genes	ENSG00000197312	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000480945	ENTREZGENE
	ENST00000480945.6	UniProtKB/Swiss-Prot
Gene3D-CATH	2.40.70.10	UniProtKB/Swiss-Prot
	Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1	UniProtKB/Swiss-Prot
GTEx	ENSG00000197312	GTEx
HGNC ID	HGNC:24578	ENTREZGENE
Human Proteome Map	DDI2	Human Proteome Map
InterPro	DDI1_N	UniProtKB/Swiss-Prot
	Peptidase_aspartic_DDI1-type	UniProtKB/Swiss-Prot
	Peptidase_aspartic_dom_sf	UniProtKB/Swiss-Prot
	Ubiquitin-like_domsf	UniProtKB/Swiss-Prot
	Ubiquitin_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:84301	UniProtKB/Swiss-Prot
NCBI Gene	84301	ENTREZGENE
OMIM	620871	OMIM
PANTHER	DNA DAMAGE-INDUCIBLE 1 HOMOLOG 2	UniProtKB/Swiss-Prot
	SODIUM-GLUCOSE COTRANSPORTER REGULATORY PROTEIN -RELATED	UniProtKB/Swiss-Prot
Pfam	Asp_protease	UniProtKB/Swiss-Prot
	ubiquitin	UniProtKB/Swiss-Prot
PharmGKB	PA142672004	PharmGKB
PROSITE	UBIQUITIN_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF50630	UniProtKB/Swiss-Prot
	SSF54236	UniProtKB/Swiss-Prot
UniProt	A0AA34QVL7_HUMAN	UniProtKB/TrEMBL
	A0AA34QVV2	ENTREZGENE, UniProtKB/TrEMBL
	A8KAE1	ENTREZGENE
	DDI2_HUMAN	UniProtKB/Swiss-Prot
	H0YI90_HUMAN	UniProtKB/TrEMBL
	H0YII4_HUMAN	UniProtKB/TrEMBL
	Q5TDH0	ENTREZGENE
	Q7RTZ0	ENTREZGENE
	Q9BRT1	ENTREZGENE
UniProt Secondary	A8KAE1	UniProtKB/Swiss-Prot
	Q7RTZ0	UniProtKB/Swiss-Prot
	Q9BRT1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	DDI2	DNA damage inducible 1 homolog 2		DNA-damage inducible 1 homolog 2	Symbol and/or name change	5135510	APPROVED
2015-07-07	DDI2	DNA-damage inducible 1 homolog 2		DNA-damage inducible 1 homolog 2 (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED
2011-07-27	DDI2	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	DDI2	DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar