ITFG2 (integrin alpha FG-GAP repeat containing 2)

Gene: ITFG2 (integrin alpha FG-GAP repeat containing 2) Homo sapiens

Analyze

Symbol:

ITFG2

Name:

integrin alpha FG-GAP repeat containing 2

RGD ID:

1603635

HGNC Page

HGNC:30879

Description:

Involved in cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Located in Golgi apparatus and lysosomal membrane. Part of KICSTOR complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FG-GAP repeat containing 1; FGGAP1; integrin-alpha FG-GAP repeat-containing protein 2; KICS3; KICSTOR complex protein ITFG2; MDS028

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

LOC100131280

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	2,812,668 - 2,859,791 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	2,812,622 - 2,859,791 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	2,921,834 - 2,968,957 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	2,792,124 - 2,804,367 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	4,535,723 - 4,548,173 (+)	NCBI		Celera
Cytogenetic Map	12	p13.33	NCBI
HuRef	12	2,779,353 - 2,791,802 (+)	NCBI		HuRef
CHM1_1	12	2,921,024 - 2,933,474 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	2,818,668 - 2,865,802 (+)	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

(+)-schisandrin B (ISO)

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

1,2-dimethylhydrazine (ISO)

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

4,4'-sulfonyldiphenol (EXP)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

CGP 52608 (EXP)

chloroacetaldehyde (EXP)

cidofovir anhydrous (EXP)

cisplatin (EXP)

cyclosporin A (EXP,ISO)

dioxygen (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

endosulfan (ISO)

ethanol (EXP,ISO)

fenofibrate (EXP)

folic acid (ISO)

fulvestrant (EXP)

gentamycin (ISO)

ifosfamide (EXP)

monosodium L-glutamate (ISO)

ozone (EXP)

perfluorooctane-1-sulfonic acid (ISO)

resveratrol (EXP)

SB 431542 (EXP)

tetrachloromethane (ISO)

trichostatin A (EXP)

valproic acid (EXP,ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to amino acid starvation (IMP)

cellular response to glucose starvation (IMP)

germinal center B cell differentiation (IEA,ISO)

integrin-mediated signaling pathway (IEA)

negative regulation of TORC1 signaling (IMP)

regulation of TOR signaling (IBA,IEA)

Cellular Component

cytosol (IEA)

Golgi apparatus (IDA)

intracellular membrane-bounded organelle (IDA)

KICSTOR complex (IBA,IDA,IEA,NAS)

lysosomal membrane (IDA,IEA,NAS,TAS)

lysosome (IEA)

membrane (IEA)

nucleoplasm (IEA)

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:8619474	PMID:12477932	PMID:16169070	PMID:17353931	PMID:21873635	PMID:26186194	PMID:26871637	PMID:28199306	PMID:28514442	PMID:29117863	PMID:32694731	PMID:33961781
PMID:36305789

Genomics

Comparative Map Data

ITFG2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	2,812,668 - 2,859,791 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	2,812,622 - 2,859,791 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	2,921,834 - 2,968,957 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	2,792,124 - 2,804,367 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	4,535,723 - 4,548,173 (+)	NCBI		Celera
Cytogenetic Map	12	p13.33	NCBI
HuRef	12	2,779,353 - 2,791,802 (+)	NCBI		HuRef
CHM1_1	12	2,921,024 - 2,933,474 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	2,818,668 - 2,865,802 (+)	NCBI		T2T-CHM13v2.0

Itfg2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	128,386,407 - 128,401,873 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	128,386,407 - 128,401,894 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	128,409,047 - 128,424,927 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	128,409,444 - 128,424,931 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	128,359,462 - 128,374,928 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	128,375,063 - 128,390,529 (-)	NCBI		MGSCv36	mm8
Celera	6	130,086,278 - 130,101,735 (-)	NCBI		Celera
Cytogenetic Map	6	F3	NCBI
cM Map	6	62.99	NCBI

Itfg2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	163,371,125 - 163,384,676 (-)	NCBI		GRCr8
mRatBN7.2	4	161,684,249 - 161,698,315 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	161,684,249 - 161,698,422 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	167,914,670 - 167,927,901 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	163,697,608 - 163,710,839 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	162,331,644 - 162,344,875 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	161,730,643 - 161,744,281 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	161,730,641 - 161,743,896 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	226,936,184 - 226,949,437 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	165,429,677 - 165,442,930 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	165,675,379 - 165,690,062 (-)	NCBI
Celera	4	150,386,454 - 150,399,708 (-)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

Itfg2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955429	18,356,642 - 18,372,928 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955429	18,356,642 - 18,372,928 (+)	NCBI	ChiLan1.0	ChiLan1.0

ITFG2
(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	8,362,725 - 8,392,250 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	8,359,607 - 8,389,003 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	2,933,227 - 2,980,509 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	2,865,297 - 2,889,752 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	2,865,297 - 2,877,555 (+)	Ensembl	panpan1.1		panPan2

ITFG2
(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	41,933,741 - 41,944,464 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	41,934,575 - 41,944,472 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	4,739,698 - 4,750,438 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	42,291,904 - 42,302,645 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	42,291,904 - 42,302,596 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	27	42,233,426 - 42,244,162 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	42,203,098 - 42,213,849 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	4,099,392 - 4,110,145 (+)	NCBI		UU_Cfam_GSD_1.0

Itfg2
(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	106,025,311 - 106,039,230 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936606	3,144,602 - 3,158,890 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936606	3,144,616 - 3,158,825 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ITFG2
(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	67,291,772 - 67,305,607 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	67,292,901 - 67,306,208 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	69,579,204 - 69,592,320 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ITFG2
(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	2,877,864 - 2,891,223 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	2,877,997 - 2,890,477 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666063	5,425,387 - 5,438,866 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Itfg2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624860	147,308 - 180,132 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624860	147,476 - 175,754 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ITFG2
72 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 12p13.33-11.1(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(chr12:173786-6378954)x1	copy number loss	See cases [RCV000447106]	Chr12:173786..6378954 [GRCh37] Chr12:12p13.33-13.31	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
NM_018463.4(ITFG2):c.425A>G (p.Glu142Gly)	single nucleotide variant	not provided [RCV000497930]	Chr12:2820104 [GRCh38] Chr12:2929270 [GRCh37] Chr12:12p13.33	uncertain significance
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
NM_018463.4(ITFG2):c.400G>A (p.Asp134Asn)	single nucleotide variant	not specified [RCV004309470]	Chr12:2818271 [GRCh38] Chr12:2927437 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.385G>A (p.Val129Ile)	single nucleotide variant	not specified [RCV004294781]	Chr12:2818256 [GRCh38] Chr12:2927422 [GRCh37] Chr12:12p13.33	uncertain significance
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 12p13.33-13.31(chr12:173786-6201932)x1	copy number loss	not provided [RCV000683476]	Chr12:173786..6201932 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(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(chr12:191242-8122785)x3	copy number gain	not provided [RCV000683477]	Chr12:191242..8122785 [GRCh37] Chr12:12p13.33-13.31	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-q11(chr12:173786-37869107)x3	copy number gain	not provided [RCV000683480]	Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	copy number loss	not provided [RCV000683475]	Chr12:173786..6039841 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-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-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3	copy number gain	not provided [RCV000750245]	Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21	pathogenic
NM_021953.4(FOXM1):c.2006C>G (p.Pro669Arg)	single nucleotide variant	not provided [RCV000882764]	Chr12:2858924 [GRCh38] Chr12:2968090 [GRCh37] Chr12:12p13.33	benign
NM_021953.4(FOXM1):c.1665G>A (p.Val555=)	single nucleotide variant	not provided [RCV000971029]	Chr12:2859265 [GRCh38] Chr12:2968431 [GRCh37] Chr12:12p13.33	benign
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 12p13.33-12.3(chr12:189216-15001420)	copy number gain	not provided [RCV000767817]	Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3	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
NM_021953.4(FOXM1):c.2002C>A (p.Pro668Thr)	single nucleotide variant	not provided [RCV000879315]	Chr12:2858928 [GRCh38] Chr12:2968094 [GRCh37] Chr12:12p13.33	benign
NM_021953.4(FOXM1):c.1881G>A (p.Thr627=)	single nucleotide variant	not provided [RCV000930330]	Chr12:2859049 [GRCh38] Chr12:2968215 [GRCh37] Chr12:12p13.33	likely benign
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(chr12:173786-6346092)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
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
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_021953.4(FOXM1):c.1642C>G (p.Gln548Glu)	single nucleotide variant	not specified [RCV004288590]	Chr12:2859288 [GRCh38] Chr12:2968454 [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
NM_021953.4(FOXM1):c.1638= (p.Arg546=)	variation	not provided [RCV000954464]	Chr12:2859292 [GRCh38] Chr12:2968458 [GRCh37] Chr12:12p13.33	benign
NM_021953.4(FOXM1):c.2018C>T (p.Pro673Leu)	single nucleotide variant	not provided [RCV000953295]	Chr12:2858912 [GRCh38] Chr12:2968078 [GRCh37] Chr12:12p13.33	likely benign
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 12p13.33-13.32(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(chr12:146240-8330229)x3	copy number gain	Obesity [RCV001801197]	Chr12:146240..8330229 [GRCh37] Chr12:12p13.33-13.31	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 12p13.33-12.1(chr12:173786-25286865)	copy number gain	not specified [RCV002052955]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-13.31(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_018463.4(ITFG2):c.157A>G (p.Ser53Gly)	single nucleotide variant	not specified [RCV004155219]	Chr12:2817283 [GRCh38] Chr12:2926449 [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_018463.4(ITFG2):c.1075G>A (p.Ala359Thr)	single nucleotide variant	not specified [RCV004092067]	Chr12:2823778 [GRCh38] Chr12:2932944 [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_018463.4(ITFG2):c.806A>C (p.Glu269Ala)	single nucleotide variant	not specified [RCV004106809]	Chr12:2821555 [GRCh38] Chr12:2930721 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1373C>T (p.Thr458Ile)	single nucleotide variant	not specified [RCV004130672]	Chr12:2859557 [GRCh38] Chr12:2968723 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1814C>T (p.Thr605Met)	single nucleotide variant	not specified [RCV004177730]	Chr12:2859116 [GRCh38] Chr12:2968282 [GRCh37] Chr12:12p13.33	likely benign
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_018463.4(ITFG2):c.1149G>T (p.Glu383Asp)	single nucleotide variant	not specified [RCV004145790]	Chr12:2823852 [GRCh38] Chr12:2933018 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.1205C>T (p.Pro402Leu)	single nucleotide variant	not specified [RCV004230434]	Chr12:2823908 [GRCh38] Chr12:2933074 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1717G>A (p.Ala573Thr)	single nucleotide variant	not specified [RCV004203783]	Chr12:2859213 [GRCh38] Chr12:2968379 [GRCh37] Chr12:12p13.33	likely benign
NM_018463.4(ITFG2):c.122C>T (p.Thr41Ile)	single nucleotide variant	not specified [RCV004099235]	Chr12:2817248 [GRCh38] Chr12:2926414 [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.325G>A (p.Gly109Ser)	single nucleotide variant	not specified [RCV004124199]	Chr12:2834659 [GRCh38] Chr12:2943825 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.422G>A (p.Arg141His)	single nucleotide variant	not specified [RCV004105496]	Chr12:2820101 [GRCh38] Chr12:2929267 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1915C>T (p.Pro639Ser)	single nucleotide variant	not specified [RCV004243926]	Chr12:2859015 [GRCh38] Chr12:2968181 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1975C>T (p.Leu659Phe)	single nucleotide variant	not specified [RCV004080030]	Chr12:2858955 [GRCh38] Chr12:2968121 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1799C>T (p.Thr600Ile)	single nucleotide variant	not specified [RCV004083336]	Chr12:2859131 [GRCh38] Chr12:2968297 [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.197C>T (p.Thr66Met)	single nucleotide variant	not specified [RCV004198991]	Chr12:2834787 [GRCh38] Chr12:2943953 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1295C>G (p.Pro432Arg)	single nucleotide variant	not specified [RCV004079385]	Chr12:2859635 [GRCh38] Chr12:2968801 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1826C>T (p.Ser609Phe)	single nucleotide variant	not specified [RCV004107096]	Chr12:2859104 [GRCh38] Chr12:2968270 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.2114C>T (p.Pro705Leu)	single nucleotide variant	not specified [RCV004218258]	Chr12:2858816 [GRCh38] Chr12:2967982 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.2036C>T (p.Ser679Leu)	single nucleotide variant	not specified [RCV004230588]	Chr12:2858894 [GRCh38] Chr12:2968060 [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_018463.4(ITFG2):c.799G>A (p.Gly267Ser)	single nucleotide variant	not specified [RCV004221770]	Chr12:2821548 [GRCh38] Chr12:2930714 [GRCh37] Chr12:12p13.33	likely benign
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_021953.4(FOXM1):c.1669G>A (p.Glu557Lys)	single nucleotide variant	not specified [RCV004097860]	Chr12:2859261 [GRCh38] Chr12:2968427 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1945C>G (p.Pro649Ala)	single nucleotide variant	not specified [RCV004120029]	Chr12:2858985 [GRCh38] Chr12:2968151 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.37G>A (p.Glu13Lys)	single nucleotide variant	not specified [RCV004240506]	Chr12:2812797 [GRCh38] Chr12:2921963 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1673C>T (p.Pro558Leu)	single nucleotide variant	not specified [RCV004075117]	Chr12:2859257 [GRCh38] Chr12:2968423 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.575C>T (p.Pro192Leu)	single nucleotide variant	not specified [RCV004213658]	Chr12:2820752 [GRCh38] Chr12:2929918 [GRCh37] Chr12:12p13.33	uncertain significance
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_018463.4(ITFG2):c.955G>A (p.Gly319Arg)	single nucleotide variant	not specified [RCV004223830]	Chr12:2822800 [GRCh38] Chr12:2931966 [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_021953.4(FOXM1):c.1633C>G (p.Arg545Gly)	single nucleotide variant	not specified [RCV004265994]	Chr12:2859297 [GRCh38] Chr12:2968463 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.569T>A (p.Leu190Gln)	single nucleotide variant	not specified [RCV004280218]	Chr12:2820746 [GRCh38] Chr12:2929912 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1339G>A (p.Gly447Arg)	single nucleotide variant	not specified [RCV004260236]	Chr12:2859591 [GRCh38] Chr12:2968757 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.1087G>A (p.Gly363Ser)	single nucleotide variant	not specified [RCV004273718]	Chr12:2823790 [GRCh38] Chr12:2932956 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.2147G>A (p.Arg716His)	single nucleotide variant	not specified [RCV004254188]	Chr12:2858783 [GRCh38] Chr12:2967949 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.2249C>T (p.Pro750Leu)	single nucleotide variant	not specified [RCV004310724]	Chr12:2858681 [GRCh38] Chr12:2967847 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1661G>T (p.Cys554Phe)	single nucleotide variant	not specified [RCV004273234]	Chr12:2859269 [GRCh38] Chr12:2968435 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.689G>T (p.Gly230Val)	single nucleotide variant	not specified [RCV004274077]	Chr12:2820866 [GRCh38] Chr12:2930032 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.347G>T (p.Arg116Leu)	single nucleotide variant	not specified [RCV004306612]	Chr12:2818218 [GRCh38] Chr12:2927384 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1633C>T (p.Arg545Trp)	single nucleotide variant	not specified [RCV004296964]	Chr12:2859297 [GRCh38] Chr12:2968463 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.218T>A (p.Val73Glu)	single nucleotide variant	not specified [RCV004356830]	Chr12:2817934 [GRCh38] Chr12:2927100 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.2144A>G (p.Asn715Ser)	single nucleotide variant	not specified [RCV004342971]	Chr12:2858786 [GRCh38] Chr12:2967952 [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
NM_018463.4(ITFG2):c.347G>A (p.Arg116His)	single nucleotide variant	not specified [RCV004343113]	Chr12:2818218 [GRCh38] Chr12:2927384 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1628G>A (p.Arg543Gln)	single nucleotide variant	not specified [RCV004351422]	Chr12:2859302 [GRCh38] Chr12:2968468 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.703C>T (p.Pro235Ser)	single nucleotide variant	not specified [RCV004336873]	Chr12:2821269 [GRCh38] Chr12:2930435 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1421C>T (p.Ala474Val)	single nucleotide variant	not specified [RCV004365230]	Chr12:2859509 [GRCh38] Chr12:2968675 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1819C>A (p.Pro607Thr)	single nucleotide variant	not specified [RCV004363783]	Chr12:2859111 [GRCh38] Chr12:2968277 [GRCh37] Chr12:12p13.33	uncertain significance
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
Single allele	duplication	not provided [RCV003448692]	Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1	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.349C>T (p.Arg117Cys)	single nucleotide variant	not specified [RCV004493560]	Chr12:2830854 [GRCh38] Chr12:2940020 [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_021953.4(FOXM1):c.1331T>C (p.Leu444Pro)	single nucleotide variant	not specified [RCV004392362]	Chr12:2859599 [GRCh38] Chr12:2968765 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1495T>C (p.Ser499Pro)	single nucleotide variant	not specified [RCV004392363]	Chr12:2859435 [GRCh38] Chr12:2968601 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1708C>T (p.Arg570Cys)	single nucleotide variant	not specified [RCV004392368]	Chr12:2859222 [GRCh38] Chr12:2968388 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1915C>G (p.Pro639Ala)	single nucleotide variant	not specified [RCV004392370]	Chr12:2859015 [GRCh38] Chr12:2968181 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.637A>G (p.Thr213Ala)	single nucleotide variant	not specified [RCV004405493]	Chr12:2820814 [GRCh38] Chr12:2929980 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.67A>G (p.Ile23Val)	single nucleotide variant	not specified [RCV004405494]	Chr12:2812827 [GRCh38] Chr12:2921993 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.713G>A (p.Arg238Gln)	single nucleotide variant	not specified [RCV004405495]	Chr12:2821279 [GRCh38] Chr12:2930445 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.760G>A (p.Val254Ile)	single nucleotide variant	not specified [RCV004405496]	Chr12:2821326 [GRCh38] Chr12:2930492 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1583C>T (p.Ser528Leu)	single nucleotide variant	not specified [RCV004392365]	Chr12:2859347 [GRCh38] Chr12:2968513 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1627C>T (p.Arg543Trp)	single nucleotide variant	not specified [RCV004392366]	Chr12:2859303 [GRCh38] Chr12:2968469 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1517C>A (p.Ser506Tyr)	single nucleotide variant	not specified [RCV004392364]	Chr12:2859413 [GRCh38] Chr12:2968579 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1817T>C (p.Leu606Pro)	single nucleotide variant	not specified [RCV004392369]	Chr12:2859113 [GRCh38] Chr12:2968279 [GRCh37] Chr12:12p13.33	uncertain significance
NM_021953.4(FOXM1):c.1701T>A (p.Ser567Arg)	single nucleotide variant	not specified [RCV004392367]	Chr12:2859229 [GRCh38] Chr12:2968395 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.1012A>G (p.Asn338Asp)	single nucleotide variant	not specified [RCV004405487]	Chr12:2822857 [GRCh38] Chr12:2932023 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.109G>T (p.Val37Leu)	single nucleotide variant	not specified [RCV004405488]	Chr12:2817235 [GRCh38] Chr12:2926401 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.1249G>A (p.Asp417Asn)	single nucleotide variant	not specified [RCV004405489]	Chr12:2824098 [GRCh38] Chr12:2933264 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.1289A>G (p.Tyr430Cys)	single nucleotide variant	not specified [RCV004405490]	Chr12:2824138 [GRCh38] Chr12:2933304 [GRCh37] Chr12:12p13.33	uncertain significance
NM_018463.4(ITFG2):c.280G>T (p.Asp94Tyr)	single nucleotide variant	not specified [RCV004405491]	Chr12:2818151 [GRCh38] Chr12:2927317 [GRCh37] Chr12:12p13.33	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4249
Count of miRNA genes:	1074
Interacting mature miRNAs:	1341
Transcripts:	ENST00000228799, ENST00000419778, ENST00000534935, ENST00000535564, ENST00000537183, ENST00000537710, ENST00000537851, ENST00000538822, ENST00000540300, ENST00000540662, ENST00000540929, ENST00000541659, ENST00000542548, ENST00000543029, ENST00000545509, ENST00000552005
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

SHGC-34277

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	2,933,967 - 2,934,066	UniSTS	GRCh37
Build 36	12	2,804,228 - 2,804,327	RGD	NCBI36
Celera	12	4,547,903 - 4,548,002	RGD
Cytogenetic Map	12	p13.33	UniSTS
HuRef	12	2,791,532 - 2,791,631	UniSTS
Stanford-G3 RH Map	12	111.0	UniSTS
GeneMap99-GB4 RH Map	12	17.99	UniSTS
Whitehead-RH Map	12	46.5	UniSTS
NCBI RH Map	12	36.4	UniSTS
GeneMap99-G3 RH Map	12	111.0	UniSTS

RH17481

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	2,933,937 - 2,934,065	UniSTS	GRCh37
Build 36	12	2,804,198 - 2,804,326	RGD	NCBI36
Celera	12	4,547,873 - 4,548,001	RGD
Cytogenetic Map	12	p13.33	UniSTS
HuRef	12	2,791,502 - 2,791,630	UniSTS
GeneMap99-GB4 RH Map	12	18.9	UniSTS
NCBI RH Map	12	38.5	UniSTS

MDS028_3609

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	2,933,412 - 2,934,138	UniSTS	GRCh37
Build 36	12	2,803,673 - 2,804,399	RGD	NCBI36
Celera	12	4,547,348 - 4,548,074	RGD
HuRef	12	2,790,977 - 2,791,703	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2013

1460

1249

191

1001

3114

762

1572

241

1114

1370

159

971

1875

Low

426

1525

477

433

945

422

1243

1434

2162

178

346

243

233

913

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_018463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_130744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_147202	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005253707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005253709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017019641	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001748810	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001748811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001748812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002957351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002957352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002957353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002957354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002957355	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002957356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002957357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002957358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002957359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002957360	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF220048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297189	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300905	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW151238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY599883	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC141948	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI261823	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ003916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ058412	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU947711	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU947982	(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
	KU178719	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178720	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178722	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U90917	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000228799 ⟹ ENSP00000228799

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,812,668 - 2,825,076 (+)	Ensembl

RefSeq Acc Id:

ENST00000534935 ⟹ ENSP00000439324

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,822,794 - 2,824,941 (+)	Ensembl

RefSeq Acc Id:

ENST00000535564

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,817,230 - 2,824,672 (+)	Ensembl

RefSeq Acc Id:

ENST00000537183

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,819,658 - 2,822,911 (+)	Ensembl

RefSeq Acc Id:

ENST00000537710

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,836,811 - 2,859,791 (+)	Ensembl

RefSeq Acc Id:

ENST00000537851 ⟹ ENSP00000445769

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,812,685 - 2,824,502 (+)	Ensembl

RefSeq Acc Id:

ENST00000538822 ⟹ ENSP00000442023

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,823,876 - 2,830,894 (+)	Ensembl

RefSeq Acc Id:

ENST00000540300

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,857,252 - 2,857,682 (+)	Ensembl

RefSeq Acc Id:

ENST00000540662 ⟹ ENSP00000444331

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,823,842 - 2,824,476 (+)	Ensembl

RefSeq Acc Id:

ENST00000540929 ⟹ ENSP00000443329

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,812,693 - 2,830,604 (+)	Ensembl

RefSeq Acc Id:

ENST00000541659

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,812,761 - 2,818,458 (+)	Ensembl

RefSeq Acc Id:

ENST00000543029

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,812,681 - 2,818,660 (+)	Ensembl

RefSeq Acc Id:

ENST00000545509

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,857,288 - 2,859,791 (+)	Ensembl

RefSeq Acc Id:

ENST00000552005

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,830,425 - 2,836,992 (+)	Ensembl

RefSeq Acc Id:

ENST00000643039

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,820,088 - 2,859,790 (+)	Ensembl

RefSeq Acc Id:

ENST00000644123 ⟹ ENSP00000496213

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,812,622 - 2,859,791 (+)	Ensembl

RefSeq Acc Id:

ENST00000644517 ⟹ ENSP00000496068

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,812,622 - 2,859,791 (+)	Ensembl

RefSeq Acc Id:

ENST00000645513

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	2,817,230 - 2,859,791 (+)	Ensembl

RefSeq Acc Id:

NM_018463 ⟹ NP_060933

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	2,812,668 - 2,825,076 (+)	NCBI
GRCh37	12	2,921,716 - 2,934,237 (+)	NCBI
Build 36	12	2,792,124 - 2,804,367 (+)	NCBI Archive
Celera	12	4,535,723 - 4,548,173 (+)	RGD
HuRef	12	2,779,353 - 2,791,802 (+)	ENTREZGENE
CHM1_1	12	2,921,024 - 2,933,474 (+)	NCBI
T2T-CHM13v2.0	12	2,818,668 - 2,831,076 (+)	NCBI

Sequence:

show sequence

GCCTTAGGTGGCCTTCCGCTCTGGCGGCTGTCGCGACGGGGGTTCAGGGAATATTTACTGGGCC
TCTCCGCTCCCTCTGCTCTTGGAGGTGCCATGAGGTCAGTTAGCTACGTGCAGCGCGTGGCGCT
GGAGTTCAGCGGGAGCCTCTTCCCGCACGCAATCTGCCTCGGAGACGTTGATAACGATACGTTA
AATGAACTGGTGGTGGGAGACACCAGCGGGAAGGTGTCTGTGTATAAAAATGATGACAGTCGGC
CATGGCTCACCTGTTCCTGCCAGGGAATGCTGACTTGCGTTGGGGTTGGAGACGTGTGTAATAA
AGGAAAGAACCTGTTGGTGGCAGTGAGTGCTGAAGGCTGGTTTCATTTGTTTGACCTGACACCT
GCCAAGGTGTTGGATGCTTCTGGGCACCACGAGACACTAATCGGAGAGGAGCAGCGTCCAGTCT
TCAAGCAGCACATCCCTGCCAACACCAAGGTCATGCTGATCAGCGACATCGATGGAGATGGGTG
TCGTGAGCTGGTGGTGGGCTACACAGACCGTGTGGTGCGAGCTTTCCGCTGGGAGGAGCTAGGT
GAGGGTCCTGAACATCTGACAGGGCAGCTGGTGTCCCTCAAGAAATGGATGCTGGAGGGTCAGG
TGGACAGCCTCTCAGTGACTCTGGGGCCACTGGGTCTTCCTGAACTGATGGTGTCTCAGCCAGG
TTGTGCGTATGCAATTCTACTGTGTACCTGGAAAAAGGACACTGGGTCCCCTCCTGCCTCTGAA
GGGCCCACGGATGGTAGTAGGGAGACCCCAGCTGCCCGAGACGTGGTGCTGCACCAGACATCTG
GCCGTATCCACAACAAGAATGTCTCCACTCACCTAATTGGCAACATCAAACAAGGCCACGGCAC
TGAGAGTAGTGGCTCTGGCCTCTTTGCCCTGTGCACCCTGGATGGGACACTGAAGCTCATGGAA
GAAATGGAAGAAGCAGACAAGCTGCTGTGGTCAGTGCAGGTGGATCACCAGCTCTTTGCCCTGG
AGAAACTGGATGTCACCGGCAACGGGCATGAGGAGGTAGTTGCATGCGCCTGGGATGGACAGAC
ATATATCATTGATCACAACCGCACCGTCGTCCGCTTCCAAGTGGATGAAAATATCCGTGCCTTC
TGTGCAGGCCTGTACGCCTGCAAAGAGGGCCGCAACAGCCCCTGCCTCGTATATGTCACTTTCA
ACCAGAAGATCTATGTGTACTGGGAGGTGCAGCTGGAGCGGATGGAGTCTACCAATCTGGTGAA
ACTGCTGGAGACCAAGCCGGAGTACCACAGCCTGCTGCAGGAGCTGGGCGTGGATCCTGACGAC
CTCCCTGTGACTCGTGCCCTGCTTCACCAAACGCTCTACCATCCAGACCAGCCACCACAGTGTG
CTCCCTCAAGCCTCCAGGATCCCACCTAGCTGTACTTGCCTCATAGCTGGTGAAGGATTCTTCT
GAACCCCCACCCTACCCCCTAAAGGTATCTGTGGTATTGGCAGGATAGGGAATATGCATTACAG
AAATGCAGGATTTGACTCTGGGCATGAAAGATGGCAGCAGCCCTAGGGTGACCGTGAACTATAG
ACCTCGCAGTCTTTTCGGTGAAAGAAGAGACAAGTTGACCCTCTGCCCATTTCCTTATGGACCT
CACCCATCATGCCAGCAGGGTCATAGGACCCTGGCCTTGTTCCAAATCATCTGGGACATGACCC
ACTCCCCACTGTCACTGTGTTGAAAACAGAGACTTGTTTGTGTGGCCCCAACACCCATAAGGAA
ACCAGGCTTTAGGCCCAGGGGAGCAGTGGAGGTAAGGGCTCCACCCCATCTTAAGCTCTGTCTT
CCGTGGCACAATTCCAAGTTCTTGACGTTAGTAATTGTTAAAGGAATGGCAAACTGTTTTGTTT
TGAAGGATCTTTCTACAGTCTGGTCTTACCCATGTTCCTAGCAACCCTGAGATGATTTTCTTCC
ATTTACCAAAGCAGCCGGGTCAGTGCTTTCTCACGTTGCCGTATTCTTCAGGTATTAGTCAGCT
TCAGAAGCCCTGCTCCCATTTTTCCACCCACCCATTCCCCCATAAAACAGCTTATTGTCTCCAA
GACAATAGACATTTAAAATGTGATGCGGGTTTATGATCCAGACCACAATCAGAATTATATCTTG
GGTCATTTATGTGCCGTCTGTTCTTGATTCTCTATGCTCTAAATCGGTGTTTTTCAAACTGTGG
TTGCAGTCCTTTGGTGGATTATGGCCAGCATTTTTTAAATAGGTAGAATAGAATAAAGTAAAAT
AGAAAATAGCAGAGTA

hide sequence

RefSeq Acc Id:

NR_130744

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	2,812,668 - 2,832,216 (+)	NCBI
CHM1_1	12	2,921,025 - 2,939,007 (+)	NCBI
T2T-CHM13v2.0	12	2,818,668 - 2,838,216 (+)	NCBI

Sequence:

show sequence

GCCTTAGGTGGCCTTCCGCTCTGGCGGCTGTCGCGACGGGGGTTCAGGGAATATTTACTGGGCC
TCTCCGCTCCCTCTGCTCTTGGAGGTGCCATGAGGTCAGTTAGCTACGTGCAGCGCGTGGCGCT
GGAGTTCAGCGGGAGCCTCTTCCCGCACGCAATCTGCCTCGGAGACGTTGATAACGATACGTTA
AATGAACTGGTGGTGGGAGACACCAGCGGGAAGGTGTCTGTGTATAAAAATGATGACAGTCGGC
CATGGCTCACCTGTTCCTGCCAGGGAATGCTGACTTGCGTTGGGGTTGGAGACGTGTGTAATAA
AGGAAAGAACCTGTTGGTGGCAGTGAGTGCTGAAGGCTGGTTTCATTTGTTTGACCTGACACCT
GCCAAGGTGTTGGATGCTTCTGGGCACCACGAGACACTAATCGGAGAGGAGCAGCGTCCAGTCT
TCAAGCAGCACATCCCTGCCAACACCAAGGTCATGCTGATCAGCGACATCGGTGGGCATGCCTA
CCTTTGCAGGCAGCCAGGAGAGTAGGAGTCAGTGGATACTAGAGCATATCCCAAGGGATTGGGA
TGGAGATGGGTGTCGTGAGCTGGTGGTGGGCTACACAGACCGTGTGGTGCGAGCTTTCCGCTGG
GAGGAGCTAGGTGAGGGTCCTGAACATCTGACAGGGCAGCTGGTGTCCCTCAAGAAATGGATGC
TGGAGGGTCAGGTGGACAGCCTCTCAGTGACTCTGGGGCCACTGGGTCTTCCTGAACTGATGGT
GTCTCAGCCAGGTTGTGCGTATGCAATTCTACTGTGTACCTGGAAAAAGGACACTGGGTCCCCT
CCTGCCTCTGAAGGGCCCACGGATGGTAGTAGGGAGACCCCAGCTGCCCGAGACGTGGTGCTGC
ACCAGACATCTGGCCGTATCCACAACAAGAATGTCTCCACTCACCTAATTGGCAACATCAAACA
AGGCCACGGCACTGAGAGTAGTGGCTCTGGCCTCTTTGCCCTGTGCACCCTGGATGGGACACTG
AAGCTCATGGAAGAAATGGAAGAAGCAGACAAGCTGCTGTGGTCAGTGCAGGTGGATCACCAGC
TCTTTGCCCTGGAGAAACTGGATGTCACCGGCAACGGGCATGAGGAGGTAGTTGCATGCGCCTG
GGATGGACAGACATATATCATTGATCACAACCGCACCGTCGTCCGCTTCCAAGTGGATGAAAAT
ATCCGTGCCTTCTGTGCAGGCCTGTACGCCTGCAAAGAGGGCCGCAACAGCCCCTGCCTCGTAT
ATGTCACTTTCAACCAGAAGATCTATGTGTACTGGGAGGTGCAGCTGGAGCGGATGGAGTCTAC
CAATCTGGTGAAACTGCTGGAGACCAAGCCGGAGTACCACAGCCTGCTGCAGGAGCTGGGCGTG
GATCCTGACGACCTCCCTGTGACTCGTGCCCTGCTTCACCAAACGCTCTACCATCCAGACCAGC
CACCACAGTGTGCTCCCTCAAGCCTCCAGGATCCCACCTAGCTGTACTTGCCTCATAGCTGGTG
AAGGATTCTTCTGAACCCCCACCCTACCCCCTAAAGAATGCGGACCCAGAATGATTGGAGAGCA
AGAAGAGCAATCCACATAGAAGAAGCACAGAGCAAAGACGGTGGCCGAGGACCAGTGGGAATTT
ATTGCGAATGTTCAATAGTGACTGAGTGGTTAAGTGGTTCCAGAGATTACAGGGCCAATGCCTT
AGAACACATGAGTTTTTTCCAGAATTACGTTATCCATGCACACACACCATTTGTCTGTGTAGAG
CACACTGAGGAGTACTTACTTAATTTAAGTATTGTATTTTGACCAAGGAAGGGGGGCAGAGTAA
TGGTGGTGACAGATGGAGTTGCACCGAGGAGACATGGCTTGGGGCAGGGAGGAAGGAGGTAGAG
GATCCTGGTTAGGTCCAGGCTAGGGAGAGAGGTGCCCTTTCTCCCTCCCTCCCTCTCCCATCAG
GGCAGAGCAGAAAGGAGAGCAGGTGAAGTGAGTGCAGGCAGGGTTGTTAATGAAAGTGTGTCCC
TGGGAGGCCTCTCACCTTGCAGTTGACCAGAAGAGCTGGAATCTCTGTCCTGCTGGTCTTCCTC
CTGCTCTCCTGGCCATGAATCAGGTCCTGCATCCGGGGAGGCTCCCCCTGAAGCCAATTCGGGT
TTCCCTCCACCAGGCGTCTTTGGATCACACTGCGCGGCTGCTGGCTCCATCACAAAACAATGAA
GATGGGATCTTGCTATGCTGCCCAGACTGGACTCTAATTCCTTGGCTCAAGGCATTCTCTAGCC
TCAGCCTCCTGAGCAGCTGGGACCAAAAGCATATGCCACAGTACCTGGCCTCCATCCTTCCTTT
CTGTTACTGCCTGTGTTCCAGACTCCCCACAGCTCTCTCGGATCCTTGGAACACCTTCTTAAGT
TCATAACCTGTCTCCAGACCTGTTACCTTTCAAATACATCTGCTTGGAGCTTCAGCCTGGAAGC
TAAAAACCTTGCTACTCCAAAATGTGGTCCTCAGATCAGCAACTTTAACATCATTTCGAAGCCT
CTTAAAAATGCACTCTCATACCTACCGAATCAGATGTTTCATTGTGACAAGATCCCCAGGTGAT
TCATGTGCAGGTTAAAGTTTGAGAAGCACCAAAGTAAAACATGAAACTAA

hide sequence

RefSeq Acc Id:

NR_147202

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	2,812,668 - 2,859,791 (+)	NCBI
T2T-CHM13v2.0	12	2,818,668 - 2,865,802 (+)	NCBI

Sequence:

show sequence

GCCTTAGGTGGCCTTCCGCTCTGGCGGCTGTCGCGACGGGGGTTCAGGGAATATTTACTGGGCC
TCTCCGCTCCCTCTGCTCTTGGAGGTGCCATGAGGTCAGTTAGCTACGTGCAGCGCGTGGCGCT
GGAGTTCAGCGGGAGCCTCTTCCCGCACGCAATCTGCCTCGGAGACGTTGATAACGATACGTTA
AATGAACTGGTGGTGGGAGACACCAGCGGGAAGGTGTCTGTGTATAAAAATGATGACAGTCGGC
CATGGCTCACCTGTTCCTGCCAGGGAATGCTGACTTGCGTTGGGGTTGGAGACGTGTGTAATAA
AGGAAAGAACCTGTTGGTGGCAGTGAGTGCTGAAGGCTGGTTTCATTTGTTTGACCTGACACCT
GCCAAGGTGTTGGATGCTTCTGGGCACCACGAGACACTAATCGGAGAGGAGCAGCGTCCAGTCT
TCAAGCAGCACATCCCTGCCAACACCAAGATGGAGATGGGTGTCGTGAGCTGGTGGTGGGCTAC
ACAGACCGTGTGGTGCGAGCTTTCCGCTGGGAGGAGCTAGGTGAGGGTCCTGAACATCTGACAG
GGCAGCTGGTGTCCCTCAAGAAATGGATGCTGGAGGGTCAGGTGGACAGCCTCTCAGTGACTCT
GGGGCCACTGGGTCTTCCTGAACTGATGGTGTCTCAGCCAGGTTGTGCGTATGCAATTCTACTG
TGTACCTGGAAAAAGGACACTGGGTCCCCTCCTGCCTCTGAAGGGCCCACGGATGGTAGTAGGG
AGACCCCAGCTGCCCGAGACGTGGTGCTGCACCAGACATCTGGCCGTATCCACAACAAGAATGT
CTCCACTCACCTAATTGGCAACATCAAACAAGGCCACGGCACTGAGAGTAGTGGCTCTGGCCTC
TTTGCCCTGTGCACCCTGGATGGGACACTGAAGCTCATGGAAGAAATGGAAGAAGCAGACAAGC
TGCTGTGGTCAGTGCAGGTGGATCACCAGCTCTTTGCCCTGGAGAAACTGGATGTCACCGGCAA
CGGGCATGAGGAGGTAGTTGCATGCGCCTGGGATGGACAGACATATATCATTGATCACAACCGC
ACCGTCGTCCGCTTCCAAGTGGATGAAAATATCCGTGCCTTCTGTGCAGGCCTGTACGCCTGCA
AAGAGGGCCGCAACAGCCCCTGCCTCGTATATGTCACTTTCAACCAGAAGATCTATGTGTACTG
GGAGGTGCAGCTGGAGCGGATGGAGTCTACCAATCTGGTGAAACTGCTGGAGACCAAGCCGGAG
TACCACAGCCTGCTGCAGGAGCTGGGCGTGGATCCTGACGACCTCCCTGTGACTCGTGCCCTGC
TTCACCAAACGCTCTACCATCCAGACCAGCCACCACAGTGTGCTCCCTCAAGCCTCCAGGATCC
CACCTAGCTGTACTTGCCTCATAGCTGGTGAAGGATTCTTCTGAACCCCCACCCTACCCCCTAA
AGGCGTCTTTGGATCACACTGCGCGGCTGCTGGCTCCATCACAAAACAATGAAGGAGGAAGTGG
GACGCAGAGAGAAACGCACATGGGGAGAACGCCACGTGAAGGCTGAGGTCGGGATAATGCATCT
GCAAGCCAAGGAACACCTAAGAGGACCAGCAAACCACCAGAAGCCAGGGGAGAGGCGTGGAACA
GACCCTGCCTTACAGCTGTCAGAAGGAACCAACCCTGCCAACACCTTCCTGTTGTACTTTCAGC
TTCCAGAACTGAAAGCTGACTTGGAAACACGGGGAGGTGGCAGGGAGGGGCAAAAAGGACTCTG
GCAAGCAGATCCACTTGTCTGGGTCCCTGCAGTGAAGAACCCAAGATCCAGGTACCTCAGCCTG
GAAGAAACCGTGCACTGCAGGTCTTCCCTTCTATCAAAACTAAAAGCAAGGAACAGAAGTCAAT
TGAAACCCCAGGTCATCCTACCCACCTTCTGGCAGTCTCTGGATAATGATCTAAGGAAATAAGC
TTACATTTATAATTAGAGGATAATTTGGAGAATTTATACTATTTACACGGACCACCCTGCAAAG
ATCAGGGAAGGCTGGATTTCTTCCTCCTTGATAGTCTGAACTGGAAGCAAAGGAGAAAACCCTT
CTCCAAACAGGAGTTTCTCCTCTTTCCCTGGTCCTGCAGAAGAAAGAGGAGCTATCCCCTCCTC
AGCTAGCAGCACCTGAAAGGGAAACAGAGATAAGGTGAACCAACGGTCACCAGACAGGACGCAC
AAAAATATCACATACGGGTTCTGATCCTCTTTGTGTCGTTTTGAAGTCTTAAAATCTATTAAAT
ATGAGAATACGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_060933	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF67641	(Get FASTA)	NCBI Sequence Viewer
	AAH06552	(Get FASTA)	NCBI Sequence Viewer
	AAH13399	(Get FASTA)	NCBI Sequence Viewer
	AAT09136	(Get FASTA)	NCBI Sequence Viewer
	ALQ34177	(Get FASTA)	NCBI Sequence Viewer
	ALQ34178	(Get FASTA)	NCBI Sequence Viewer
	ALQ34179	(Get FASTA)	NCBI Sequence Viewer
	ALQ34180	(Get FASTA)	NCBI Sequence Viewer
	BAB55145	(Get FASTA)	NCBI Sequence Viewer
	BAF83799	(Get FASTA)	NCBI Sequence Viewer
	BAG59678	(Get FASTA)	NCBI Sequence Viewer
	BAG62541	(Get FASTA)	NCBI Sequence Viewer
	EAW88886	(Get FASTA)	NCBI Sequence Viewer
	EAW88887	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000228799
	ENSP00000228799.2
	ENSP00000439324.1
	ENSP00000442023.1
	ENSP00000443329.1
	ENSP00000444331.1
	ENSP00000445769.1
	ENSP00000496068.1
	ENSP00000496213.1
GenBank Protein	Q969R8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_060933 ⟸ NM_018463

- UniProtKB:

Q6PKU5 (UniProtKB/Swiss-Prot), D3DUQ2 (UniProtKB/Swiss-Prot), A8K4Z5 (UniProtKB/Swiss-Prot), Q96SX6 (UniProtKB/Swiss-Prot), Q969R8 (UniProtKB/Swiss-Prot), A0A0S2Z5P1 (UniProtKB/TrEMBL), A0A0S2Z5G6 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MRSVSYVQRVALEFSGSLFPHAICLGDVDNDTLNELVVGDTSGKVSVYKNDDSRPWLTCSCQGM
LTCVGVGDVCNKGKNLLVAVSAEGWFHLFDLTPAKVLDASGHHETLIGEEQRPVFKQHIPANTK
VMLISDIDGDGCRELVVGYTDRVVRAFRWEELGEGPEHLTGQLVSLKKWMLEGQVDSLSVTLGP
LGLPELMVSQPGCAYAILLCTWKKDTGSPPASEGPTDGSRETPAARDVVLHQTSGRIHNKNVST
HLIGNIKQGHGTESSGSGLFALCTLDGTLKLMEEMEEADKLLWSVQVDHQLFALEKLDVTGNGH
EEVVACAWDGQTYIIDHNRTVVRFQVDENIRAFCAGLYACKEGRNSPCLVYVTFNQKIYVYWEV
QLERMESTNLVKLLETKPEYHSLLQELGVDPDDLPVTRALLHQTLYHPDQPPQCAPSSLQDPT

hide sequence

RefSeq Acc Id:

ENSP00000228799 ⟸ ENST00000228799

RefSeq Acc Id:

ENSP00000439324 ⟸ ENST00000534935

RefSeq Acc Id:

ENSP00000445769 ⟸ ENST00000537851

RefSeq Acc Id:

ENSP00000442023 ⟸ ENST00000538822

RefSeq Acc Id:

ENSP00000496068 ⟸ ENST00000644517

RefSeq Acc Id:

ENSP00000496213 ⟸ ENST00000644123

RefSeq Acc Id:

ENSP00000443329 ⟸ ENST00000540929

RefSeq Acc Id:

ENSP00000444331 ⟸ ENST00000540662

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q969R8-F1-model_v2	AlphaFold	Q969R8	1-447	view protein structure

Promoters

RGD ID:

6790139

Promoter ID:

HG_KWN:14731

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:

OTTHUMT00000253091, UC001QLA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	2,791,991 - 2,792,491 (+)	MPROMDB

RGD ID:

7222761

Promoter ID:

EPDNEW_H17126

Type:

initiation region

Name:

ITFG2_1

Description:

integrin alpha FG-GAP repeat containing 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	2,812,677 - 2,812,737	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:30879	AgrOrtholog
COSMIC	ITFG2	COSMIC
Ensembl Genes	ENSG00000111203	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000228799	ENTREZGENE
	ENST00000228799.7	UniProtKB/Swiss-Prot
	ENST00000534935.5	UniProtKB/TrEMBL
	ENST00000537851.5	UniProtKB/TrEMBL
	ENST00000538822.1	UniProtKB/TrEMBL
	ENST00000540662.1	UniProtKB/TrEMBL
	ENST00000540929.5	UniProtKB/Swiss-Prot
	ENST00000644123.1	UniProtKB/TrEMBL
	ENST00000644517.1	UniProtKB/Swiss-Prot
	ENST00000645513	ENTREZGENE
Gene3D-CATH	2.130.10.130	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000111203	GTEx
HGNC ID	HGNC:30879	ENTREZGENE
Human Proteome Map	ITFG2	Human Proteome Map
InterPro	Integrin_alpha_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	KICSTOR_ITFG2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40_repeat_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:55846	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	55846	ENTREZGENE
OMIM	617421	OMIM
PANTHER	KICSTOR COMPLEX PROTEIN ITFG2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR16317	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Itfg2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA143485507	PharmGKB
Superfamily-SCOP	SSF50978	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF69318	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0S2Z5G6	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z5L6_HUMAN	UniProtKB/TrEMBL
	A0A0S2Z5P1	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8Y7E0_HUMAN	UniProtKB/TrEMBL
	A8K4Z5	ENTREZGENE
	D3DUQ2	ENTREZGENE
	F5H1D0_HUMAN	UniProtKB/TrEMBL
	H0YFM4_HUMAN	UniProtKB/TrEMBL
	H0YG72_HUMAN	UniProtKB/TrEMBL
	H0YGR0_HUMAN	UniProtKB/TrEMBL
	ITFG2_HUMAN	UniProtKB/Swiss-Prot
	Q6PKU5	ENTREZGENE
	Q969R8	ENTREZGENE
	Q96SX6	ENTREZGENE
UniProt Secondary	A8K4Z5	UniProtKB/Swiss-Prot
	D3DUQ2	UniProtKB/Swiss-Prot
	Q6PKU5	UniProtKB/Swiss-Prot
	Q96SX6	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