PYGO2 (pygopus family PHD finger 2)

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Gene: PYGO2 (pygopus family PHD finger 2) Homo sapiens

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Symbol:

PYGO2

Name:

pygopus family PHD finger 2

RGD ID:

1343524

HGNC Page

HGNC:30257

Description:

Predicted to enable several functions, including chromatin binding activity; histone acetyltransferase regulator activity; and histone binding activity. Predicted to be involved in kidney development and spermatid nucleus differentiation. Predicted to act upstream of or within several processes, including canonical Wnt signaling pathway; lens development in camera-type eye; and regulation of mammary gland epithelial cell proliferation. Part of beta-catenin-TCF complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

1190004M21Rik; FLJ33226; pygopus 2; pygopus homolog 2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Pygo2 (pygopus 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Pygo2 (pygopus family PHD finger 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Pan paniscus (bonobo/pygmy chimpanzee):	PYGO2 (pygopus family PHD finger 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	PYGO2 (pygopus family PHD finger 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Pygo2 (pygopus family PHD finger 2)	NCBI	Ortholog
Chlorocebus sabaeus (green monkey):	PYGO2 (pygopus family PHD finger 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Pygo2 (pygopus family PHD finger 2)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	PBXIP1 (PBX homeobox interacting protein 1)	HGNC	EggNOG, Treefam
Sus scrofa (pig):	PYGO2 (pygopus family PHD finger 2)	HGNC	NCBI
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Pygo2 (pygopus family PHD finger 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Pygo2 (pygopus 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	pygo2 (pygopus homolog 2 (Drosophila))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	pygo	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER)
Caenorhabditis elegans (roundworm):	C02B10.5	Alliance	DIOPT (Ensembl Compara\|PANTHER)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	154,957,026 - 154,961,782 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	154,957,026 - 154,963,853 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	154,929,502 - 154,934,258 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	153,196,126 - 153,200,882 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	151,742,575 - 151,747,331	NCBI
Celera	1	128,000,527 - 128,005,283 (-)	NCBI		Celera
Cytogenetic Map	1	q21.3	NCBI
HuRef	1	126,291,247 - 126,296,003 (-)	NCBI		HuRef
CHM1_1	1	156,325,877 - 156,330,632 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	154,096,387 - 154,101,143 (-)	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

Charcot-Marie-Tooth disease type 2 (IAGP)

gastrointestinal stromal tumor (IAGP)

immunodeficiency 42 (IAGP)

MHC class II deficiency (IAGP)

parathyroid carcinoma (IAGP)

severe congenital neutropenia 3 (IAGP)

severe congenital neutropenia 5 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

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

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

5-aza-2'-deoxycytidine (ISO)

acrolein (EXP)

acrylamide (EXP)

allethrin (ISO)

alpha-pinene (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

cadmium dichloride (EXP)

caffeine (EXP)

chlorpyrifos (ISO)

clofibrate (ISO)

cyhalothrin (ISO)

cypermethrin (ISO)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

fenthion (ISO)

fenvalerate (ISO)

FR900359 (EXP)

gentamycin (ISO)

glyphosate (ISO)

indometacin (EXP)

methidathion (ISO)

N,N-dimethylaniline (EXP)

nitrofen (ISO)

ozone (EXP)

paracetamol (ISO)

potassium dichromate (EXP)

resveratrol (EXP)

sodium arsenite (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

urethane (EXP)

vinclozolin (ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

brain development (IEA,ISO)

canonical Wnt signaling pathway (IEA,ISO)

developmental growth (IEA,ISO)

kidney development (IBA,IEA,ISO)

lens development in camera-type eye (IEA,ISO)

mammary gland development (IEA,ISO)

regulation of mammary gland epithelial cell proliferation (IEA,ISO)

roof of mouth development (IEA,ISO)

spermatid development (IEA,ISO)

spermatid nucleus differentiation (IBA,IEA,ISO)

Wnt signaling pathway (IEA)

Cellular Component

beta-catenin-TCF complex (IDA)

nucleoplasm (TAS)

nucleus (IEA)

Molecular Function

chromatin binding (IEA)

histone acetyltransferase regulator activity (IEA)

histone binding (IEA)

metal ion binding (IEA)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Gastrointestinal stroma tumor (IAGP)

Parathyroid carcinoma (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11955446	PMID:11988739	PMID:12477932	PMID:14612447	PMID:14702039	PMID:15146197	PMID:15489334	PMID:15498874	PMID:16609037	PMID:16964243	PMID:17113272	PMID:17203217
PMID:18314487	PMID:19555349	PMID:20204459	PMID:20361361	PMID:20637214	PMID:20937768	PMID:21399610	PMID:21873635	PMID:22186018	PMID:22379092	PMID:22658674	PMID:22939629
PMID:23456637	PMID:23517060	PMID:23535732	PMID:23732668	PMID:23865714	PMID:24360964	PMID:24981860	PMID:25545771	PMID:25871475	PMID:26170450	PMID:26344197	PMID:26345837
PMID:26645832	PMID:26760575	PMID:26876203	PMID:26902498	PMID:27647933	PMID:28296634	PMID:28427190	PMID:28924059	PMID:29719262	PMID:29769196	PMID:31073027	PMID:31273950
PMID:31492088	PMID:31749426	PMID:32296183	PMID:32344865	PMID:32727463	PMID:33640491	PMID:33961781	PMID:34362407	PMID:35140242	PMID:35707871	PMID:36217029	PMID:36404439
PMID:36688188	PMID:37233752	PMID:37423512	PMID:37689310	PMID:38229324	PMID:38297188

Genomics

Comparative Map Data

PYGO2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	154,957,026 - 154,961,782 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	154,957,026 - 154,963,853 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	154,929,502 - 154,934,258 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	153,196,126 - 153,200,882 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	151,742,575 - 151,747,331	NCBI
Celera	1	128,000,527 - 128,005,283 (-)	NCBI		Celera
Cytogenetic Map	1	q21.3	NCBI
HuRef	1	126,291,247 - 126,296,003 (-)	NCBI		HuRef
CHM1_1	1	156,325,877 - 156,330,632 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	154,096,387 - 154,101,143 (-)	NCBI		T2T-CHM13v2.0

Pygo2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	89,337,521 - 89,342,438 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	89,337,521 - 89,342,435 (+)	Ensembl		GRCm39 Ensembl
GRCm38	3	89,430,114 - 89,435,131 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	89,430,214 - 89,435,128 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	89,234,759 - 89,239,050 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	89,516,141 - 89,521,061 (+)	NCBI		MGSCv36	mm8
Celera	3	89,465,970 - 89,470,261 (+)	NCBI		Celera
Cytogenetic Map	3	F1	NCBI
cM Map	3	39.12	NCBI

Pygo2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	177,147,407 - 177,152,476 (+)	NCBI		GRCr8
mRatBN7.2	2	174,849,670 - 174,854,758 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	174,849,936 - 174,854,758 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	181,995,576 - 182,000,249 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	180,017,959 - 180,022,632 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	174,618,553 - 174,623,231 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	188,757,167 - 188,762,285 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	188,757,489 - 188,762,282 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	208,171,437 - 208,176,567 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	181,628,693 - 181,633,360 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	181,578,648 - 181,582,650 (+)	NCBI
Celera	2	168,790,790 - 168,795,470 (+)	NCBI		Celera
Cytogenetic Map	2	q34	NCBI

PYGO2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	94,878,730 - 94,883,453 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	94,611,030 - 94,615,584 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	130,305,547 - 130,310,270 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	133,912,411 - 133,920,308 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	133,912,411 - 133,920,308 (-)	Ensembl	panpan1.1		panPan2

PYGO2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	7	42,509,760 - 42,513,744 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	7	42,509,968 - 42,512,091 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	7	42,000,993 - 42,004,825 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	7	42,380,064 - 42,383,893 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	7	42,379,911 - 42,383,891 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	7	42,159,756 - 42,163,584 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	7	42,213,362 - 42,217,193 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	7	42,496,947 - 42,500,777 (+)	NCBI		UU_Cfam_GSD_1.0

Pygo2
(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_024405058	25,476,599 - 25,480,652 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936580	4,507,925 - 4,511,107 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936580	4,506,982 - 4,511,044 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PYGO2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	8,866,928 - 8,871,645 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	8,866,711 - 8,871,770 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	8,201,899 - 8,206,849 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pygo2
(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_004624885	2,521,368 - 2,525,449 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624885	2,521,230 - 2,525,449 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PYGO2
16 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	copy number loss	See cases [RCV000053912]	Chr1:154575689..155292901 [GRCh38] Chr1:154548165..155262692 [GRCh37] Chr1:152814789..153529316 [NCBI36] Chr1:1q21.3-22	pathogenic
NM_138300.3(PYGO2):c.230C>T (p.Pro77Leu)	single nucleotide variant	Malignant melanoma [RCV000059903]	Chr1:154959770 [GRCh38] Chr1:154932246 [GRCh37] Chr1:153198870 [NCBI36] Chr1:1q21.3	not provided
NM_138300.3(PYGO2):c.727C>T (p.Pro243Ser)	single nucleotide variant	Malignant melanoma [RCV000064186]	Chr1:154959273 [GRCh38] Chr1:154931749 [GRCh37] Chr1:153198373 [NCBI36] Chr1:1q21.3	not provided
NM_003029.4(SHC1):c.919C>G (p.Pro307Ala)	single nucleotide variant	Malignant melanoma [RCV000059904]	Chr1:154966165 [GRCh38] Chr1:154938641 [GRCh37] Chr1:153205265 [NCBI36] Chr1:1q21.3	not provided
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	copy number gain	See cases [RCV000139902]	Chr1:154566501..157624084 [GRCh38] Chr1:154538977..157593874 [GRCh37] Chr1:152805601..155860498 [NCBI36] Chr1:1q21.3-23.1	pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	copy number gain	See cases [RCV000143515]	Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2	pathogenic
Single allele	inversion	Pediatric metastatic thyroid tumour [RCV000585807]	Chr1:154130985..156843877 [GRCh37] Chr1:1q21.3-23.1	likely pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	copy number gain	not provided [RCV000585385]	Chr1:153751465..156660462 [GRCh37] Chr1:1q21.3-23.1	likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_138300.4(PYGO2):c.247G>A (p.Gly83Arg)	single nucleotide variant	not specified [RCV004315836]	Chr1:154959753 [GRCh38] Chr1:154932229 [GRCh37] Chr1:1q21.3	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	copy number gain	not provided [RCV001005143]	Chr1:154898854..155242457 [GRCh37] Chr1:1q21.3-22	uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup	duplication	Gastrointestinal stromal tumor [RCV001300221]\|Parathyroid carcinoma [RCV001341077]	Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44	uncertain significance
NC_000001.10:g.(?_154141761)_(156851434_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV001990060]	Chr1:154141761..156851434 [GRCh37] Chr1:1q21.3-23.1	uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup	duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]\|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]\|Kostmann syndrome [RCV003120769]\|MHC class II deficiency [RCV001992607]	Chr1:149895434..156851434 [GRCh37] Chr1:1q21.2-23.1	uncertain significance
NM_138300.4(PYGO2):c.410C>G (p.Pro137Arg)	single nucleotide variant	not specified [RCV004088649]	Chr1:154959590 [GRCh38] Chr1:154932066 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.302T>G (p.Phe101Cys)	single nucleotide variant	not specified [RCV004233938]	Chr1:154959698 [GRCh38] Chr1:154932174 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.92A>T (p.Gln31Leu)	single nucleotide variant	not specified [RCV004167621]	Chr1:154961485 [GRCh38] Chr1:154933961 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.579G>T (p.Met193Ile)	single nucleotide variant	not specified [RCV004104024]	Chr1:154959421 [GRCh38] Chr1:154931897 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.503A>G (p.Asn168Ser)	single nucleotide variant	not specified [RCV004169894]	Chr1:154959497 [GRCh38] Chr1:154931973 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.31A>G (p.Lys11Glu)	single nucleotide variant	not specified [RCV004078919]	Chr1:154961546 [GRCh38] Chr1:154934022 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.907C>T (p.Pro303Ser)	single nucleotide variant	not specified [RCV004180647]	Chr1:154959093 [GRCh38] Chr1:154931569 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.828C>G (p.His276Gln)	single nucleotide variant	not specified [RCV004134763]	Chr1:154959172 [GRCh38] Chr1:154931648 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.1001G>A (p.Arg334Gln)	single nucleotide variant	not specified [RCV004093859]	Chr1:154958999 [GRCh38] Chr1:154931475 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.544A>C (p.Met182Leu)	single nucleotide variant	not specified [RCV004276052]	Chr1:154959456 [GRCh38] Chr1:154931932 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.676C>T (p.Pro226Ser)	single nucleotide variant	not specified [RCV004265727]	Chr1:154959324 [GRCh38] Chr1:154931800 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.1168T>C (p.Ser390Pro)	single nucleotide variant	not specified [RCV004297848]	Chr1:154958832 [GRCh38] Chr1:154931308 [GRCh37] Chr1:1q21.3	uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	copy number gain	Chromosome 1q21.1 duplication syndrome [RCV003329522]	Chr1:142535935..157648813 [GRCh37] Chr1:1q12-23.1	pathogenic
NM_138300.4(PYGO2):c.826C>T (p.His276Tyr)	single nucleotide variant	not specified [RCV004337281]	Chr1:154959174 [GRCh38] Chr1:154931650 [GRCh37] Chr1:1q21.3	uncertain significance
GRCh37/hg19 1q21.3-22(chr1:154684075-155017913)x3	copy number gain	not provided [RCV003484041]	Chr1:154684075..155017913 [GRCh37] Chr1:1q21.3-22	uncertain significance
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	copy number loss	not specified [RCV003986928]	Chr1:154302443..156868186 [GRCh37] Chr1:1q21.3-23.1	pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	copy number gain	not specified [RCV003986717]	Chr1:144368497..158992086 [GRCh37] Chr1:1q21.1-23.1	pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	copy number gain	not specified [RCV003987261]	Chr1:146577511..157155587 [GRCh37] Chr1:1q21.1-23.1	pathogenic
NM_138300.4(PYGO2):c.658G>T (p.Ala220Ser)	single nucleotide variant	not specified [RCV004440654]	Chr1:154959342 [GRCh38] Chr1:154931818 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.1000C>T (p.Arg334Trp)	single nucleotide variant	not specified [RCV004440649]	Chr1:154959000 [GRCh38] Chr1:154931476 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.332C>T (p.Ala111Val)	single nucleotide variant	not specified [RCV004440651]	Chr1:154959668 [GRCh38] Chr1:154932144 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.625C>G (p.Pro209Ala)	single nucleotide variant	not specified [RCV004440653]	Chr1:154959375 [GRCh38] Chr1:154931851 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.203T>C (p.Met68Thr)	single nucleotide variant	not specified [RCV004440650]	Chr1:154959797 [GRCh38] Chr1:154932273 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.409C>T (p.Pro137Ser)	single nucleotide variant	not specified [RCV004440652]	Chr1:154959591 [GRCh38] Chr1:154932067 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.404C>T (p.Pro135Leu)	single nucleotide variant	not specified [RCV004662862]	Chr1:154959596 [GRCh38] Chr1:154932072 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.149C>T (p.Thr50Ile)	single nucleotide variant	not specified [RCV004662863]	Chr1:154960981 [GRCh38] Chr1:154933457 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.1154C>T (p.Thr385Ile)	single nucleotide variant	not specified [RCV004669334]	Chr1:154958846 [GRCh38] Chr1:154931322 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.691G>C (p.Gly231Arg)	single nucleotide variant	not specified [RCV004669335]	Chr1:154959309 [GRCh38] Chr1:154931785 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.740C>T (p.Pro247Leu)	single nucleotide variant	not specified [RCV004669336]	Chr1:154959260 [GRCh38] Chr1:154931736 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.1213G>A (p.Asp405Asn)	single nucleotide variant	not specified [RCV004669337]	Chr1:154958787 [GRCh38] Chr1:154931263 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.508C>T (p.Pro170Ser)	single nucleotide variant	not specified [RCV004662860]	Chr1:154959492 [GRCh38] Chr1:154931968 [GRCh37] Chr1:1q21.3	uncertain significance
NM_138300.4(PYGO2):c.685A>G (p.Arg229Gly)	single nucleotide variant	not specified [RCV004662861]	Chr1:154959315 [GRCh38] Chr1:154931791 [GRCh37] Chr1:1q21.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1673
Count of miRNA genes:	838
Interacting mature miRNAs:	994
Transcripts:	ENST00000368456, ENST00000368457, ENST00000483463
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1357381	BW57_H	Body weight QTL 57 (human)	1	0.0001	Body weight	fat free mass after exercise training	1	140630236	166630236	Human

Markers in Region

D7S2830

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	154,935,036 - 154,935,375	UniSTS	GRCh37
Build 36	1	153,201,660 - 153,201,999	RGD	NCBI36
Celera	1	128,006,061 - 128,006,400	RGD
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
HuRef	1	126,296,781 - 126,297,120	UniSTS

RH98253

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	154,935,036 - 154,935,178	UniSTS	GRCh37
Build 36	1	153,201,660 - 153,201,802	RGD	NCBI36
Celera	1	128,006,061 - 128,006,203	RGD
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
HuRef	1	126,296,781 - 126,296,923	UniSTS
GeneMap99-GB4 RH Map	1	557.49	UniSTS

RH70874

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	154,934,820 - 154,935,026	UniSTS	GRCh37
Build 36	1	153,201,444 - 153,201,650	RGD	NCBI36
Celera	1	128,005,845 - 128,006,051	RGD
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
HuRef	1	126,296,565 - 126,296,771	UniSTS
GeneMap99-GB4 RH Map	1	557.59	UniSTS
NCBI RH Map	1	1269.4	UniSTS

PYGO2_8120

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	154,929,350 - 154,930,217	UniSTS	GRCh37
Build 36	1	153,195,974 - 153,196,841	RGD	NCBI36
Celera	1	128,000,375 - 128,001,242	RGD
HuRef	1	126,291,095 - 126,291,962	UniSTS

STS-W05360

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	154,929,535 - 154,929,704	UniSTS	GRCh37
Build 36	1	153,196,159 - 153,196,328	RGD	NCBI36
Celera	1	128,000,560 - 128,000,729	RGD
Cytogenetic Map	1	q21.3	UniSTS
HuRef	1	126,291,280 - 126,291,449	UniSTS
GeneMap99-GB4 RH Map	1	539.35	UniSTS
NCBI RH Map	1	1177.8	UniSTS

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_138300	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF289598	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF457208	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK090545	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092389	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095425	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL451085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006132	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC032099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN260857	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ897766	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000368456 ⟹ ENSP00000357441

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	154,958,740 - 154,962,036 (-)	Ensembl

Ensembl Acc Id:

ENST00000368457 ⟹ ENSP00000357442

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	154,957,026 - 154,961,782 (-)	Ensembl

Ensembl Acc Id:

ENST00000483463

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	154,959,638 - 154,963,853 (-)	Ensembl

RefSeq Acc Id:

NM_138300 ⟹ NP_612157

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	154,957,026 - 154,961,782 (-)	NCBI
GRCh37	1	154,929,502 - 154,934,258 (-)	ENTREZGENE
Build 36	1	153,196,126 - 153,200,882 (-)	NCBI Archive
HuRef	1	126,291,247 - 126,296,003 (-)	ENTREZGENE
CHM1_1	1	156,325,877 - 156,330,632 (-)	NCBI
T2T-CHM13v2.0	1	154,096,387 - 154,101,143 (-)	NCBI

Sequence:

show sequence

GGTTCCGGTTGCTGCCGCCGCTGGCGGGCGGCGAGTCTGGAGAGAGCGCGCAGTTTGCGCGGCG
GCTCGGCGCTTCCCTGTCGTCGCACTTTGTGGTTGCTGCAGCTCGGGGGCCTGGGCTGCCCCTG
ACACCCCTTCTGGGCGATGGTGCAGCCCAAGGGCGCCTCCATCCCCCGCCGCTGCCGCTAACCC
GGGTCCCCCACTCCATGGCCGCCTCGGCGCCGCCCCCACCGGACAAGCTGGAGGGAGGTGGCGG
CCCCGCACCGCCCCCTGCGCCGCCCAGCACCGGGAGGAAGCAGGGCAAGGCCGGTCTGCAAATG
AAGAGTCCAGAAAAGAAGCGAAGGAAGTCAAATACTCAGGGCCCTGCATACTCACATCTGACGG
AGTTTGCACCACCCCCAACTCCCATGGTGGATCACCTGGTTGCATCCAACCCTTTTGAAGATGA
CTTCGGAGCCCCCAAAGTGGGGGTTGCAGCCCCTCCATTCCTTGGCAGTCCTGTGCCCTTCGGA
GGCTTCCGTGTGCAGGGGGGCATGGCGGGCCAGGTACCCCCAGGCTACAGCACTGGAGGTGGAG
GGGGCCCCCAGCCACTCCGTCGACAGCCACCCCCCTTCCCTCCCAATCCTATGGGCCCTGCTTT
CAACATGCCCCCCCAGGGTCCTGGCTACCCACCCCCAGGCAACATGAACTTTCCCAGCCAACCC
TTCAACCAGCCTCTGGGTCAAAACTTTAGTCCTCCCAGTGGGCAGATGATGCCGGGCCCAGTGG
GGGGATTTGGTCCCATGATCTCACCCACCATGGGACAGCCTCCCAGAGCAGAGCTGGGCCCACC
TTCTCTGTCCCAACGATTTGCTCAGCCAGGGGCTCCTTTTGGCCCTTCTCCTCTCCAGAGACCT
GGTCAGGGGCTCCCCAGCCTGCCGCCTAACACAAGTCCCTTTCCTGGTCCGGACCCTGGCTTTC
CTGGCCCTGGTGGTGAGGATGGGGGGAAGCCCTTGAATCCACCTGCTTCTACTGCTTTTCCCCA
GGAGCCCCACTCAGGCTCCCCGGCTGCTGCTGTTAATGGGAACCAGCCCAGTTTCCCCCCGAAC
AGCAGTGGGCGGGGTGGGGGCACTCCAGATGCCAACAGCTTGGCACCCCCTGGCAAGGCAGGTG
GGGGCTCCGGGCCCCAGCCTCCCCCAGGCTTGGTGTACCCATGTGGTGCCTGTCGGAGTGAGGT
GAACGATGACCAGGATGCCATTCTGTGTGAGGCCTCCTGCCAGAAATGGTTCCACCGTGAGTGC
ACAGGCATGACTGAGAGCGCCTATGGGCTGCTGACCACTGAAGCTTCTGCCGTCTGGGCCTGCG
ATCTCTGCCTCAAGACCAAGGAGATCCAGTCTGTCTACATCCGTGAGGGCATGGGGCAGCTGGT
GGCTGCTAACGATGGGTGACGCTGGTGAAGTGGCCCAGGGAAGTGCACATGTCTCTCCCTGCTC
TTCCAGGGTGATTTTTTTGATGTTTGGCTCTTGGTCCTTGTTTCCACTGGCTTTCCATCCCCAT
GGGGCAGAAACAGTGGCTCCTGGGAGCAGAAAAGGAATTGAGGTGGGCAGGCAGAAGAGCCTGG
ATTGCTCACTGTTTTGGGAAACTTACATGTTGAGATCTACAGAGATCCAGGAAACCAAAGCCCT
GCTGAGCAGAGCCATTTTGTGGCTATTTCTGGAGGCCCAGGAGTGTGGCTGCAAGAGAAAAGGG
GCTGGAGGAAGATCCGGAGGGCAGGGGTGTTCCCTCTGCTGATGATGGATGCCCCTAACACCTG
TGCCTAACACCCCTACTGAACCCCACAGCTCCAGCCTTAGTTTTTGGAGTCAAGTGTTAAAGGT
TTCTGGCCAGAGGAATTGGGGTCTTGCCATCCCTGCAATAGCCCTTTTATGGGCTCTGGGAGAC
AGCTTTAGGGAATAAATGGGGATTTTCCCCTTTTTCTACCCACTCCTTTGCTTCCTCCAAGACT
TACCCAACTCCTTCCCCCTCAGAGAACCAAATAGCCTGAGGAAGCAGGAGAGTTCCTGGTTATG
GCAGTTTCTTGGTGATTTGGGGCTTCAAGACAGTAGGTGAGAGATGCTGTCAGGACGTATCTTC
TTCATACCAAAGTCACTGGTCCTTTCTCAGCCTCTCTCGTGCTTTTCTCCTAATGACCATATTT
TTGCCAAAAATTGGGATATGTTATCTGACAGACCAGAATATTTGAAGTTTGGGCTGTCCTGAAA
GTCTGGACTTTGGTGGTACCCTCCTCCCCCAGCCCATCTGTTGCACATTATACTCCGTGTGTTC
TTCAACTTTCGGCGCCCTTATTCCCCTGCCTTCCTGGCTTGATTGAAGGAAAGCTTGAAAAGGC
GCAGAGCCCTATACCTCATTTCCTCCATGATAAAAGGATCCAAGTGAGGCCCTGTCACAGCCTG
TGGGTAGGGGATGCGGCGGGATCCTCATTGCCATGGTACTCAAAGGTAGAAGAGCCTGGAGTTT
GTTGCTTCTCTTTGCTATTCTTTCATATCCTCTTGGGCCTGGTGATTAATTAGCAATTCTCATT
CCTCTCAGCCAAAGGCCTGCACTGGGCTTTATTTGTCTTTTTTTATTTTTTAAGCACTGCCTGC
CAGAGATGGGCCTGGGGCCTGATGAGGACCTTAGCGCTGCTCGTTCTCCTTTTCTGTTCATGCA
CACATTCCTCCATGGGGTGGGGAAGGCAGGCATGGGGTGTGGCCCTCGGAGAAGTTAGGAGTCC
CCCAGCTCAAGATACAGTGGCAAAGACCTAGTGGTCCCCTACCCCCACTTCTCTCAGTTCCTGG
CATGAGGAGAGAAGACCCTGCTCTGGTGGAGCTGACAACCTTTGAGGCTGGGAGGAGAGCAGCC
TCTGGGCATCGTTCCCAGTGTCCCTCACACTAAAACGGCGTAGATGGCAACCCCCCACCCCCAC
CCCGCTGCTCAACTCTTGTGTTTGTTGTTCTGTTTGCCCCATTTATCTGTTGCTGTTTTTGTGT
TGTCTTCCCCTGCTCCGCATTTTGTAAAATGGCCCCTGGGGGAGTGTTTTTGCTGGATCTGCTC
CCTCTCGCTCTCTCACTCCACTACTTTTTGGAACAAAGTGATGGCAGAATGCGGTGGTGGTGGG
GGTCTTTTGTACTGTTGGATTAATAAAATGATTTTAAAATCCCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_612157	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH06132	(Get FASTA)	NCBI Sequence Viewer
	AAH13725	(Get FASTA)	NCBI Sequence Viewer
	AAH32099	(Get FASTA)	NCBI Sequence Viewer
	AAL55782	(Get FASTA)	NCBI Sequence Viewer
	AAL91371	(Get FASTA)	NCBI Sequence Viewer
	BAC03474	(Get FASTA)	NCBI Sequence Viewer
	BAC03877	(Get FASTA)	NCBI Sequence Viewer
	CAH69778	(Get FASTA)	NCBI Sequence Viewer
	EAW53172	(Get FASTA)	NCBI Sequence Viewer
	EAW53173	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000357441.1
	ENSP00000357442
	ENSP00000357442.2
GenBank Protein	Q9BRQ0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_612157 ⟸ NM_138300

- UniProtKB:

Q8WYZ4 (UniProtKB/Swiss-Prot), Q96CY2 (UniProtKB/Swiss-Prot), Q9BRQ0 (UniProtKB/Swiss-Prot), Q5T170 (UniProtKB/TrEMBL), Q5T171 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAASAPPPPDKLEGGGGPAPPPAPPSTGRKQGKAGLQMKSPEKKRRKSNTQGPAYSHLTEFAPP
PTPMVDHLVASNPFEDDFGAPKVGVAAPPFLGSPVPFGGFRVQGGMAGQVPPGYSTGGGGGPQP
LRRQPPPFPPNPMGPAFNMPPQGPGYPPPGNMNFPSQPFNQPLGQNFSPPSGQMMPGPVGGFGP
MISPTMGQPPRAELGPPSLSQRFAQPGAPFGPSPLQRPGQGLPSLPPNTSPFPGPDPGFPGPGG
EDGGKPLNPPASTAFPQEPHSGSPAAAVNGNQPSFPPNSSGRGGGTPDANSLAPPGKAGGGSGP
QPPPGLVYPCGACRSEVNDDQDAILCEASCQKWFHRECTGMTESAYGLLTTEASAVWACDLCLK
TKEIQSVYIREGMGQLVAANDG

hide sequence

Ensembl Acc Id:

ENSP00000357442 ⟸ ENST00000368457

Ensembl Acc Id:

ENSP00000357441 ⟸ ENST00000368456

Protein Domains

PHD-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BRQ0-F1-model_v2	AlphaFold	Q9BRQ0	1-406	view protein structure

Promoters

RGD ID:

6809677

Promoter ID:

HG_ACW:4207

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, Lymphoblastoid

Transcripts:

PYGO2ANDPBXIP1.OAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	153,190,924 - 153,191,424 (-)	MPROMDB

RGD ID:

6786364

Promoter ID:

HG_KWN:5313

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000368456, NM_138300

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	153,200,679 - 153,201,179 (-)	MPROMDB

RGD ID:

6786363

Promoter ID:

HG_KWN:5314

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000090951

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	153,202,896 - 153,203,396 (-)	MPROMDB

RGD ID:

6857376

Promoter ID:

EPDNEW_H1852

Type:

initiation region

Name:

PYGO2_1

Description:

pygopus family PHD finger 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	1	154,961,782 - 154,961,842	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:30257	AgrOrtholog
COSMIC	PYGO2	COSMIC
Ensembl Genes	ENSG00000163348	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000368456.1	UniProtKB/TrEMBL
	ENST00000368457	ENTREZGENE
	ENST00000368457.3	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000163348	GTEx
HGNC ID	HGNC:30257	ENTREZGENE
Human Proteome Map	PYGO2	Human Proteome Map
InterPro	Wnt_Signal_Transd_Protein	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Zinc_finger_PHD-type_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_FYVE_PHD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_PHD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_PHD-finger	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:90780	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	90780	ENTREZGENE
OMIM	606903	OMIM
PANTHER	PYGOPUS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PYGOPUS HOMOLOG 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	PHD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134881185	PharmGKB
PROSITE	ZF_PHD_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZF_PHD_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	PHD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF57903	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	PYGO2_HUMAN	UniProtKB/Swiss-Prot
	Q5T170	ENTREZGENE, UniProtKB/TrEMBL
	Q5T171	ENTREZGENE, UniProtKB/TrEMBL
	Q8WYZ4	ENTREZGENE
	Q96CY2	ENTREZGENE
	Q9BRQ0	ENTREZGENE
UniProt Secondary	Q8WYZ4	UniProtKB/Swiss-Prot
	Q96CY2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-10-22	PYGO2	pygopus family PHD finger 2		pygopus homolog 2 (Drosophila)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar