NRIP2 (nuclear receptor interacting protein 2)

Gene: NRIP2 (nuclear receptor interacting protein 2) Homo sapiens

Analyze

Symbol:

NRIP2

Name:

nuclear receptor interacting protein 2

RGD ID:

1350542

HGNC Page

HGNC:23078

Description:

Predicted to enable aspartic-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within Notch signaling pathway and negative regulation of transcription by RNA polymerase II. Located in cytoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DKFZp761G1913; nuclear receptor-interacting protein 2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	12	2,825,348 - 2,835,035 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	2,825,348 - 2,835,544 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	2,934,514 - 2,944,201 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	2,804,775 - 2,814,450 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	2,804,775 - 2,814,450	NCBI
Celera	12	4,548,450 - 4,558,161 (-)	NCBI		Celera
Cytogenetic Map	12	p13.33	NCBI
HuRef	12	2,792,079 - 2,801,789 (-)	NCBI		HuRef
CHM1_1	12	2,933,751 - 2,943,458 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	2,831,348 - 2,841,035 (-)	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

Hyperphosphatemic Familial Tumoral Calcinosis 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

3,4-methylenedioxymethamphetamine (ISO)

4-hydroxyphenyl retinamide (ISO)

aldehydo-D-glucose (ISO)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

butanal (EXP)

cadmium dichloride (ISO)

CGP 52608 (EXP)

cisplatin (ISO)

copper(II) sulfate (EXP)

crocidolite asbestos (EXP)

D-glucose (ISO)

diquat (ISO)

endosulfan (ISO)

ethanol (ISO)

folic acid (ISO)

glucose (ISO)

maneb (ISO)

nickel atom (EXP)

paraquat (ISO)

potassium dichromate (ISO)

serpentine asbestos (EXP)

silicon dioxide (EXP)

trichloroethene (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

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

Notch signaling pathway (IEA,ISO)

proteolysis (IEA)

Cellular Component

cytoplasm (IDA)

nucleus (IEA)

Molecular Function

aspartic-type endopeptidase activity (IEA)

protein binding (IPI)

References

References - curated

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

Additional References at PubMed

PMID:10860982	PMID:11076863	PMID:11230166	PMID:11256614	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15489336	PMID:16344560	PMID:16381901	PMID:17075290	PMID:17332742
PMID:21988832	PMID:25416956	PMID:28137278	PMID:32296183	PMID:34941261

Genomics

Comparative Map Data

NRIP2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	2,825,348 - 2,835,035 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	2,825,348 - 2,835,544 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	2,934,514 - 2,944,201 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	2,804,775 - 2,814,450 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	2,804,775 - 2,814,450	NCBI
Celera	12	4,548,450 - 4,558,161 (-)	NCBI		Celera
Cytogenetic Map	12	p13.33	NCBI
HuRef	12	2,792,079 - 2,801,789 (-)	NCBI		HuRef
CHM1_1	12	2,933,751 - 2,943,458 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	2,831,348 - 2,841,035 (-)	NCBI		T2T-CHM13v2.0

Nrip2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	128,374,780 - 128,386,747 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	128,376,259 - 128,393,390 (+)	Ensembl		GRCm39 Ensembl
GRCm38	6	128,397,818 - 128,409,780 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	128,399,296 - 128,416,427 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	128,349,784 - 128,358,953 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	128,365,385 - 128,373,870 (+)	NCBI		MGSCv36	mm8
Celera	6	130,076,598 - 130,085,769 (+)	NCBI		Celera
Cytogenetic Map	6	F3	NCBI
cM Map	6	62.99	NCBI

Nrip2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	163,359,592 - 163,370,144 (+)	NCBI		GRCr8
mRatBN7.2	4	161,673,964 - 161,684,055 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	161,639,356 - 161,684,070 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	4	161,719,434 - 161,729,673 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	161,720,501 - 161,729,192 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	226,924,969 - 226,935,214 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	165,419,535 - 165,427,882 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	4	150,375,415 - 150,385,654 (+)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

NRIP2
(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	10	8,377,177 - 8,385,257 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	8,372,124 - 8,382,447 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	2,945,844 - 2,956,155 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	2,877,833 - 2,888,177 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	2,879,690 - 2,887,722 (-)	Ensembl	panpan1.1		panPan2

NRIP2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	41,925,083 - 41,933,475 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	41,925,730 - 41,931,669 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	4,750,712 - 4,758,746 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	42,283,595 - 42,291,630 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	42,283,691 - 42,291,627 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	27	42,225,122 - 42,233,152 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	42,194,799 - 42,202,824 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	4,110,419 - 4,118,454 (-)	NCBI		UU_Cfam_GSD_1.0

Nrip2
(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_024404945	106,002,501 - 106,025,116 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936606	3,158,910 - 3,167,578 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936606	3,159,049 - 3,167,629 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NRIP2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	67,281,107 - 67,291,522 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	67,281,032 - 67,291,524 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	69,567,779 - 69,577,827 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NRIP2
(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	11	2,892,520 - 2,902,377 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	2,893,730 - 2,901,495 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666063	5,411,390 - 5,423,425 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in NRIP2
20 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	copy number loss	See cases [RCV000050637]	Chr12:121255..3968447 [GRCh38] Chr12:282465..4077613 [GRCh37] Chr12:100682..3947874 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1	copy number loss	See cases [RCV000052776]	Chr12:121055..28415184 [GRCh38] Chr12:282465..28568117 [GRCh37] Chr12:100482..28459384 [NCBI36] Chr12:12p13.33-11.22	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	copy number loss	See cases [RCV000052777]	Chr12:2492728..4829842 [GRCh38] Chr12:2601894..4939008 [GRCh37] Chr12:2472155..4809269 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	copy number gain	See cases [RCV000053660]	Chr12:77187..34380176 [GRCh38] Chr12:282465..34533111 [GRCh37] Chr12:56614..34424378 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	copy number gain	See cases [RCV000053662]	Chr12:80412..25470329 [GRCh38] Chr12:282465..25623263 [GRCh37] Chr12:59839..25514530 [NCBI36] Chr12:12p13.33-12.1	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3	copy number gain	See cases [RCV000053663]	Chr12:121055..7272606 [GRCh38] Chr12:282465..7425202 [GRCh37] Chr12:100482..7316469 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]\|See cases [RCV000053664]	Chr12:121255..8361746 [GRCh38] Chr12:282465..8514342 [GRCh37] Chr12:100682..8405609 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	copy number gain	See cases [RCV000053665]	Chr12:199896..3284963 [GRCh38] Chr12:309062..3394129 [GRCh37] Chr12:179323..3264390 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	copy number gain	See cases [RCV000053666]	Chr12:212976..33926913 [GRCh38] Chr12:322142..34079848 [GRCh37] Chr12:192403..33971115 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:1764264-4231744)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]\|See cases [RCV000053669]	Chr12:1764264..4231744 [GRCh38] Chr12:1873430..4340910 [GRCh37] Chr12:1743691..4211171 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	copy number gain	See cases [RCV000135350]	Chr12:45740..6945196 [GRCh38] Chr12:147099..7054359 [GRCh37] Chr12:17360..6924620 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	copy number loss	See cases [RCV000136848]	Chr12:199896..5807366 [GRCh38] Chr12:309062..5916532 [GRCh37] Chr12:179323..5786793 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	copy number gain	See cases [RCV000136611]	Chr12:121255..34603274 [GRCh38] Chr12:282465..34756209 [GRCh37] Chr12:100682..34647476 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	copy number loss	See cases [RCV000137693]	Chr12:80412..2850599 [GRCh38] Chr12:282465..2959765 [GRCh37] Chr12:59839..2830026 [NCBI36] Chr12:12p13.33	pathogenic\|uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	copy number loss	See cases [RCV000138558]	Chr12:80412..4420585 [GRCh38] Chr12:282465..4529751 [GRCh37] Chr12:59839..4400012 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	copy number gain	See cases [RCV000139052]	Chr12:121271..34603261 [GRCh38] Chr12:282465..34756196 [GRCh37] Chr12:100698..34647463 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	copy number gain	See cases [RCV000139787]	Chr12:54427..34608071 [GRCh38] Chr12:282465..34761006 [GRCh37] Chr12:33854..34652273 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	copy number loss	See cases [RCV000141250]	Chr12:54427..3639603 [GRCh38] Chr12:282465..3748769 [GRCh37] Chr12:33854..3619030 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	copy number loss	See cases [RCV000140991]	Chr12:54427..4004912 [GRCh38] Chr12:282465..4114078 [GRCh37] Chr12:33854..3984339 [NCBI36] Chr12:12p13.33-13.32	pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	copy number gain	See cases [RCV000141905]	Chr12:1258274..20657577 [GRCh38] Chr12:1367440..20810511 [GRCh37] Chr12:1237701..20701778 [NCBI36] Chr12:12p13.33-12.2	pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2619985-3489688)x3	copy number gain	See cases [RCV000141599]	Chr12:2619985..3489688 [GRCh38] Chr12:2729151..3598854 [GRCh37] Chr12:2599412..3469115 [NCBI36] Chr12:12p13.33-13.32	uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3	copy number gain	See cases [RCV000141614]	Chr12:2188620..3361190 [GRCh38] Chr12:2297786..3470356 [GRCh37] Chr12:2168047..3340617 [NCBI36] Chr12:12p13.33-13.32	uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	copy number gain	See cases [RCV000142149]	Chr12:64620..34682902 [GRCh38] Chr12:173786..34835837 [GRCh37] Chr12:44047..34727104 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	copy number loss	See cases [RCV000142595]	Chr12:121255..3003320 [GRCh38] Chr12:282465..3112486 [GRCh37] Chr12:100682..2982747 [NCBI36] Chr12:12p13.33	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	copy number gain	See cases [RCV000143357]	Chr12:418421..6235914 [GRCh38] Chr12:527587..6345080 [GRCh37] Chr12:397848..6215341 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	copy number gain	See cases [RCV000240164]	Chr12:148034..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1	copy number loss	See cases [RCV000239873]	Chr12:222888..3931052 [GRCh37] Chr12:12p13.33-13.32	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	copy number gain	See cases [RCV000240487]	Chr12:89061..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3	copy number gain	See cases [RCV000449191]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3	copy number gain	See cases [RCV000449287]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1	copy number loss	See cases [RCV000447106]	Chr12:173786..6378954 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	See cases [RCV000447551]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1	copy number loss	See cases [RCV000446628]	Chr12:173786..5737510 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3	copy number gain	See cases [RCV000446050]	Chr12:173786..20026080 [GRCh37] Chr12:12p13.33-12.2	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3	copy number gain	See cases [RCV000446749]	Chr12:173786..8257049 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	copy number gain	See cases [RCV000446017]	Chr12:189578..34756150 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:2245848-3614555)x3	copy number gain	See cases [RCV000511901]	Chr12:2245848..3614555 [GRCh37] Chr12:12p13.33-13.32	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	copy number gain	See cases [RCV000511580]	Chr12:565369..34835837 [GRCh37] Chr12:12p13.33-11.1	likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	copy number gain	See cases [RCV000510853]	Chr12:173786..11677456 [GRCh37] Chr12:12p13.33-13.2	pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	copy number gain	See cases [RCV000510961]	Chr12:173786..28219229 [GRCh37] Chr12:12p13.33-11.22	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	copy number loss	not provided [RCV000683475]	Chr12:173786..6039841 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	copy number gain	not provided [RCV000683478]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	copy number gain	not provided [RCV000683480]	Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1	copy number loss	not provided [RCV000683471]	Chr12:173786..4105910 [GRCh37] Chr12:12p13.33-13.32	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	copy number loss	not provided [RCV000683474]	Chr12:173786..5952112 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	copy number gain	not provided [RCV000683477]	Chr12:191242..8122785 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	not provided [RCV000683479]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	copy number loss	not provided [RCV000683476]	Chr12:173786..6201932 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3	copy number gain	not provided [RCV000750245]	Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21	pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del	deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697]	Chr12:3750000..5250000 [GRCh38] Chr12:12p13.33-13.31	pathogenic\|not provided
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	copy number gain	not provided [RCV000767817]	Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	copy number gain	not provided [RCV000767818]	Chr12:237588..8278292 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	copy number gain	not provided [RCV000767819]	Chr12:189216..8185497 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	copy number gain	not provided [RCV000846343]	Chr12:173786..8393815 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	copy number loss	not provided [RCV000847821]	Chr12:173786..6346092 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	copy number gain	not provided [RCV000847209]	Chr12:173786..34496628 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_031474.3(NRIP2):c.775G>A (p.Gly259Arg)	single nucleotide variant	not specified [RCV004290192]	Chr12:2827278 [GRCh38] Chr12:2936444 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.686C>T (p.Ser229Leu)	single nucleotide variant	not specified [RCV004300542]	Chr12:2827940 [GRCh38] Chr12:2937106 [GRCh37] Chr12:12p13.33	uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	copy number gain	not provided [RCV001006470]	Chr12:274676..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	copy number loss	not provided [RCV001259134]	Chr12:191242..4683495 [GRCh37] Chr12:12p13.33-13.32	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	copy number gain	not provided [RCV001537906]	Chr12:189145..7730395 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	copy number gain	Obesity [RCV001801197]	Chr12:146240..8330229 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	copy number gain	not specified [RCV002052955]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	copy number gain	not specified [RCV002052957]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	copy number gain	not specified [RCV002052958]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	copy number loss	not specified [RCV002052963]	Chr12:2790077..5325700 [GRCh37] Chr12:12p13.33-13.32	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	copy number gain	not provided [RCV002472514]	Chr12:173787..8320544 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_031474.3(NRIP2):c.515G>C (p.Arg172Thr)	single nucleotide variant	not specified [RCV004315330]	Chr12:2828395 [GRCh38] Chr12:2937561 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.648G>C (p.Gln216His)	single nucleotide variant	not specified [RCV004128948]	Chr12:2827978 [GRCh38] Chr12:2937144 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.739C>G (p.Leu247Val)	single nucleotide variant	not specified [RCV004142289]	Chr12:2827639 [GRCh38] Chr12:2936805 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.354T>G (p.Ser118Arg)	single nucleotide variant	not specified [RCV004151869]	Chr12:2830849 [GRCh38] Chr12:2940015 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.208G>A (p.Glu70Lys)	single nucleotide variant	not specified [RCV004200926]	Chr12:2834776 [GRCh38] Chr12:2943942 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.367C>T (p.Arg123Cys)	single nucleotide variant	not specified [RCV004169630]	Chr12:2830836 [GRCh38] Chr12:2940002 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.773A>T (p.His258Leu)	single nucleotide variant	not specified [RCV004175615]	Chr12:2827280 [GRCh38] Chr12:2936446 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.325G>A (p.Gly109Ser)	single nucleotide variant	not specified [RCV004124199]	Chr12:2834659 [GRCh38] Chr12:2943825 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.631C>T (p.Pro211Ser)	single nucleotide variant	not specified [RCV004173477]	Chr12:2827995 [GRCh38] Chr12:2937161 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.591G>C (p.Arg197Ser)	single nucleotide variant	not specified [RCV004134471]	Chr12:2828035 [GRCh38] Chr12:2937201 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.197C>T (p.Thr66Met)	single nucleotide variant	not specified [RCV004198991]	Chr12:2834787 [GRCh38] Chr12:2943953 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.584A>G (p.Glu195Gly)	single nucleotide variant	not specified [RCV004245440]	Chr12:2828042 [GRCh38] Chr12:2937208 [GRCh37] Chr12:12p13.33	likely benign
NM_031474.3(NRIP2):c.386C>T (p.Pro129Leu)	single nucleotide variant	not specified [RCV004132038]	Chr12:2830817 [GRCh38] Chr12:2939983 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.236T>C (p.Leu79Pro)	single nucleotide variant	not specified [RCV004122541]	Chr12:2834748 [GRCh38] Chr12:2943914 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.530C>G (p.Thr177Arg)	single nucleotide variant	not specified [RCV004084674]	Chr12:2828380 [GRCh38] Chr12:2937546 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.797C>T (p.Pro266Leu)	single nucleotide variant	not specified [RCV004095714]	Chr12:2827256 [GRCh38] Chr12:2936422 [GRCh37] Chr12:12p13.33	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	copy number gain	Pallister-Killian syndrome [RCV003154827]	Chr12:176047..34179852 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_031474.3(NRIP2):c.520G>C (p.Ala174Pro)	single nucleotide variant	not specified [RCV004284689]	Chr12:2828390 [GRCh38] Chr12:2937556 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.399G>T (p.Gln133His)	single nucleotide variant	not specified [RCV004345247]	Chr12:2830804 [GRCh38] Chr12:2939970 [GRCh37] Chr12:12p13.33	uncertain significance
Single allele	duplication	not provided [RCV003448692]	Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33(chr12:2775404-3044582)x3	copy number gain	See cases [RCV003445448]	Chr12:2775404..3044582 [GRCh37] Chr12:12p13.33	likely benign
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	copy number loss	not provided [RCV003483146]	Chr12:191243..5332596 [GRCh37] Chr12:12p13.33-13.32	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	copy number gain	not specified [RCV003986979]	Chr12:173786..34835641 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	copy number loss	not specified [RCV003986988]	Chr12:2246103..5406692 [GRCh37] Chr12:12p13.33-13.31	likely pathogenic
NM_031474.3(NRIP2):c.250C>G (p.Arg84Gly)	single nucleotide variant	not specified [RCV004493559]	Chr12:2834734 [GRCh38] Chr12:2943900 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.367C>A (p.Arg123Ser)	single nucleotide variant	not specified [RCV004493561]	Chr12:2830836 [GRCh38] Chr12:2940002 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.421G>A (p.Asp141Asn)	single nucleotide variant	not specified [RCV004493562]	Chr12:2830782 [GRCh38] Chr12:2939948 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.109C>A (p.Pro37Thr)	single nucleotide variant	not specified [RCV004493558]	Chr12:2834875 [GRCh38] Chr12:2944041 [GRCh37] Chr12:12p13.33	uncertain significance
NM_031474.3(NRIP2):c.349C>T (p.Arg117Cys)	single nucleotide variant	not specified [RCV004493560]	Chr12:2830854 [GRCh38] Chr12:2940020 [GRCh37] Chr12:12p13.33	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1456
Count of miRNA genes:	856
Interacting mature miRNAs:	1022
Transcripts:	ENST00000337508, ENST00000542386, ENST00000542990
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

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

524

851

522

328

1483

233

1763

197

504

506

419

1243

Low

1868

1924

1161

584

1337

424

2851

1923

1927

198

915

1044

170

785

1543

Below cutoff

214

284

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_031474	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005253797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005253798	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011521031	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017020000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017020001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK054740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK098063	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300944	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136557	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036063	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC131562	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA391605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000337508 ⟹ ENSP00000337501

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,825,348 - 2,835,035 (-)	Ensembl

RefSeq Acc Id:

ENST00000542386 ⟹ ENSP00000438338

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,828,346 - 2,835,536 (-)	Ensembl

RefSeq Acc Id:

ENST00000542990 ⟹ ENSP00000446283

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,827,950 - 2,835,544 (-)	Ensembl

RefSeq Acc Id:

NM_031474 ⟹ NP_113662

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	2,825,348 - 2,835,035 (-)	NCBI
GRCh37	12	2,934,514 - 2,944,372 (-)	NCBI
Build 36	12	2,804,775 - 2,814,450 (-)	NCBI Archive
Celera	12	4,548,450 - 4,558,161 (-)	RGD
HuRef	12	2,792,079 - 2,801,789 (-)	ENTREZGENE
CHM1_1	12	2,933,751 - 2,943,458 (-)	NCBI
T2T-CHM13v2.0	12	2,831,348 - 2,841,035 (-)	NCBI

Sequence:

show sequence

ACTCCCTCTACAGCAATCTCGGGAAATTGGAGACTGACGCGGCTGCTCCTGCATGTTATTTATT
TTTCCTCTTTCCCTCCCGTGGAGACCCTCCTGTTGGAAAGAGAGCTGCAGCACGGGACAGAGAC
AGGCAGGAAGAAGCAGAGAGGACTCGGTGACGCCCCCACCGAGCAGCCCCTGGCCCACTCCTCC
AGCAGGGGCCATGAGCACCAAGCAGGAGGCCAGGAGAGATGAGGGAGAAGCCAGGACGAGGGGG
CAGGAGGCACAGCTTCGAGACCGAGCCCACCTGAGCCAGCAGCGCCGGCTCAAACAGGCCACCC
AGTTCCTGCACAAGGACTCGGCCGACCTGCTCCCGCTGGACAGCCTCAAGAGGCTCGGCACCTC
CAAGGACTTGCAGCCGCGCAGTGTGATCCAAAGACGCCTGGTGGAGGGAAACCCGAATTGGCTT
CAGGGGGAGCCTCCCCGGATGCAGGACCTGATTCATGGCCAGGAGAGCAGGAGGAAGACCAGCA
GGACAGAGATTCCAGCTCTTCTGGTCAACTGCAAGTGCCAGGACCAGCTGCTTAGAGTGGCCGT
TGACACAGGCACCCAATACAATCGGATCTCTGCTGGATGTCTCAGCCGCCTGGGGTTAGAGAAA
AGGGTCCTAAAAGCCTCAGCTGGGGACCTGGCCCCTGGGCCCCCAACCCAGGTGGAGCAGTTGG
AGCTACAGCTGGGGCAGGAGACTGTGGTGTGCTCGGCACAGGTGGTGGATGCTGAGAGTCCTGA
ATTCTGCCTGGGCCTGCAGACTCTGCTTTCTCTCAAGTGCTGCATCGACCTGGAGCACGGAGTG
CTGCGGCTGAAAGCCCCGTTCTCAGAGCTACCCTTCCTGCCTTTGTACCAAGAGCCTGGCCAGT
GACTGCTGTCTCAGTCAGTCCCCAGAGGGAAAGACCTTGCCTTAGAAGAAGAGGCGTGTGGGGA
ACGGGGGCTCTTGAAGCCAGGTAGCTGGGGACTATGGTGTCTGCCCTTCCAATCACCTCCCTGA
CCCCTGCTGTCCCATTTTCCCCAGCTGGCCGCATTCCTCTCTGCTTCTCAGCAGCTGTCCTACT
CCCCAGGACGAGTTTTCACTAGAGGGCCCACGATGCCAGGATTCTGATTCATCTTCCTCCCAAG
AAAAGCAAAGCCAAATCAAGACCACAGATAGGAACCTAAGCACAATGGGGTGCCTGCTTGGGCT
GGGTCGAAGGCTCTGCTGACTGCTGTCCTTGTCCATCACCCAATACCACCCCAAACACAACTCA
ACTTCCCACACCACCATGTCTCTCACCACACCTTCTGGGCCTCATTATCTCCCACAACTAGACC
GCCATGCCTCACCAACCTATGTCCCTGGACCTCCTGGTGTCTGCCTCTCGGAGTCTGTGCACAT
CTGCTCACAGTTGAGTGGGGGAAGAAACAGCCAGAATTCAATACAACAAAGAGCGGGAGTTAGT
ATAGGAATGTCCATCTCATAAGGCTGAGAGCTATTTTTTCCTGTGGCTGCAAATGTCTGAAGCC
AGTTAGTTTGATTACCCTGTGCAAAACCTTGGACATACTTCTGCTATTAACGCTATAGGTATTT
ATCCGTTTCCACTGGCTTTTTGTACCCACCGAGCCCCTGAGCCTTGCGTGTGTGTGTGTGGAAG
AGCCTTGTAGAGAACTGCTCCTGTGAGGCAGACAGGACAGTGAGGTTGTCACCACTCAGACTTC
ACCTATTCAGCATTCTTTCTGATTTCTAGAACTATCCACCTCATTAGGCCTTCTTCCTATCCCC
ATCTCTGGCCTCTTGAGCTTAAGCTTGTATTGTCCTGGAATCAGTGGCTTTCTAACCCCCTGCC
AGGCTTTGCCAAAGCAAAAAGACAGAGGCTTTTTTTTTTTTTTTAAAGTTTGGGGTCTGTCAGG
AGACAGAGGCTTTTTTGAATTCACTGTGAAGAGAAGAACCCGAACCTTAAGACGCCAGATCCCT
GAGAGTCTTTCTGGCTGGTTTGAGTCTCTCAAATCATGGATTAGGAGTAAAGAAAGAGGCCAGG
CGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGT
CAGGAGTTTGAGACCAGCCTGGGTAATATGGCAAAACCCCATCTCTACTAAAAAATACAAAAAT
TAGCCAGGTATGGTGGTGAACACCTGTAATCCCAGCTACTTGGAAGGCTGAGGCATAGGAGTTG
CTTGAACCTGGGAGATGGGGGTTGTAGTGAGCCAAGTTCGTGCCATCGGACTCCAGCCTGGGTG
AAGGAGTGAGACCCTGTCTCCAAAAACAAACAAAAAAGGAGCAGAGAAAGACAGTGGTACAGCT
AACCTGAACAAGGGAACTGGGACCGTTGGGCTGAAACAGTCTTGAGCCTGGGGTTGACTGGGTT
AGAGAAGAACCGGGATGCAAGGAGCTGCCTGTGACACCTGGCCTGCCCTTTCTCAGCTGCCTCC
CCTGCCCTTTCTCAGCTGCCTCCCCTGCCCTCAGAAGGAAAGGAGAGGGCTCACTTATCACTTG
TGCCATAGCACCTGGTCTCAAAATCCTAAAAGCTTTCCTCGCCCTCACTGCCTTGCTCCACAAG
GTCCACTTTCCTGGGTCTTGTGCTGTGCCTTTCCTTGTCTGCCTCCTGCTGCTTCTGTAACTGC
AGACCCCAGGCCCAATGGCAAGCCCTCGGCTCAGCTGCTTCTCCATTGGAATAAACTCTTGTTT
CTCTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_113662	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH36063	(Get FASTA)	NCBI Sequence Viewer
	AAI31563	(Get FASTA)	NCBI Sequence Viewer
	BAG53573	(Get FASTA)	NCBI Sequence Viewer
	BAG62573	(Get FASTA)	NCBI Sequence Viewer
	CAB66492	(Get FASTA)	NCBI Sequence Viewer
	EAW88888	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000337501
	ENSP00000337501.4
	ENSP00000438338.1
	ENSP00000446283.1
GenBank Protein	Q9BQI9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_113662 ⟸ NM_031474

- UniProtKB:

A2RRE3 (UniProtKB/Swiss-Prot), B4DV61 (UniProtKB/Swiss-Prot), Q9BQI9 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MLFIFPLSLPWRPSCWKESCSTGQRQAGRSREDSVTPPPSSPWPTPPAGAMSTKQEARRDEGEA
RTRGQEAQLRDRAHLSQQRRLKQATQFLHKDSADLLPLDSLKRLGTSKDLQPRSVIQRRLVEGN
PNWLQGEPPRMQDLIHGQESRRKTSRTEIPALLVNCKCQDQLLRVAVDTGTQYNRISAGCLSRL
GLEKRVLKASAGDLAPGPPTQVEQLELQLGQETVVCSAQVVDAESPEFCLGLQTLLSLKCCIDL
EHGVLRLKAPFSELPFLPLYQEPGQ

hide sequence

RefSeq Acc Id:

ENSP00000438338 ⟸ ENST00000542386

RefSeq Acc Id:

ENSP00000446283 ⟸ ENST00000542990

RefSeq Acc Id:

ENSP00000337501 ⟸ ENST00000337508

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BQI9-F1-model_v2	AlphaFold	Q9BQI9	1-281	view protein structure

Promoters

RGD ID:

6790320

Promoter ID:

HG_KWN:14732

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3

Transcripts:

ENST00000337508

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	2,813,916 - 2,814,416 (-)	MPROMDB

RGD ID:

7222763

Promoter ID:

EPDNEW_H17127

Type:

initiation region

Name:

NRIP2_1

Description:

nuclear receptor interacting protein 2

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	12	2,835,035 - 2,835,095	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:23078	AgrOrtholog
COSMIC	NRIP2	COSMIC
Ensembl Genes	ENSG00000053702	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000337508	ENTREZGENE
	ENST00000337508.9	UniProtKB/Swiss-Prot
	ENST00000542386.1	UniProtKB/TrEMBL
	ENST00000542990.5	UniProtKB/TrEMBL
Gene3D-CATH	2.40.70.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000053702	GTEx
HGNC ID	HGNC:23078	ENTREZGENE
Human Proteome Map	NRIP2	Human Proteome Map
InterPro	NRIP_C	UniProtKB/Swiss-Prot
	Peptidase_aspartic_DDI1-type	UniProtKB/Swiss-Prot
	Peptidase_aspartic_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:83714	UniProtKB/Swiss-Prot
NCBI Gene	83714	ENTREZGENE
PANTHER	ASPARTYL PROTEASE DDI-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	NUCLEAR RECEPTOR-INTERACTING PROTEIN 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Asp_protease	UniProtKB/Swiss-Prot
PharmGKB	PA134978127	PharmGKB
Superfamily-SCOP	SSF50630	UniProtKB/Swiss-Prot
UniProt	A2RRE3	ENTREZGENE
	B4DV61	ENTREZGENE
	F5H065_HUMAN	UniProtKB/TrEMBL
	F5H2G5_HUMAN	UniProtKB/TrEMBL
	NRIP2_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	A2RRE3	UniProtKB/Swiss-Prot
	B4DV61	UniProtKB/Swiss-Prot

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

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

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

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

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Imported Disease Annotations - ClinVar