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Gene: PIP4K2C (phosphatidylinositol-5-phosphate 4-kinase type 2 gamma) Homo sapiens

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Symbol:

PIP4K2C

Name:

phosphatidylinositol-5-phosphate 4-kinase type 2 gamma

RGD ID:

733243

HGNC Page

HGNC:23786

Description:

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and identical protein binding activity. Involved in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process; negative regulation of insulin receptor signaling pathway; and positive regulation of autophagosome assembly. Located in several cellular components, including autophagosome; cytosol; and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ22055; phosphatidylinositol 4-phosphate 5-kinase; phosphatidylinositol 5-phosphate 4-kinase type II gamma; phosphatidylinositol 5-phosphate 4-kinase type-2 gamma; phosphatidylinositol-4-phosphate 5-kinase, type II, gamma; phosphatidylinositol-5-phosphate 4-kinase type-2 gamma; phosphatidylinositol-5-phosphate 4-kinase, type II, gamma; PI(5)P 4-kinase type II gamma; PIP4KII-gamma; PIP5K2C

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	57,591,192 - 57,603,418 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	57,591,174 - 57,603,418 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	57,984,975 - 57,997,201 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	56,271,324 - 56,283,298 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	56,271,323 - 56,283,296	NCBI
Celera	12	57,640,774 - 57,653,027 (+)	NCBI		Celera
Cytogenetic Map	12	q13.3	NCBI
HuRef	12	55,022,647 - 55,034,898 (+)	NCBI		HuRef
CHM1_1	12	57,952,773 - 57,965,027 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	57,559,429 - 57,571,638 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIP4K2C	Human	cataract 15 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 15 multiple types	ClinVar	PMID:28492532
PIP4K2C	Human	Charcot-Marie-Tooth disease axonal type 2U		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE more ...	ClinVar	PMID:28492532
PIP4K2C	Human	familial melanoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial melanoma	ClinVar	PMID:28492532
PIP4K2C	Human	INTERSTITIAL LUNG AND LIVER DISEASE		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Interstitial lung and liver disease	ClinVar	PMID:28492532
PIP4K2C	Human	paraplegia		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:28492532

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIP4K2C	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Pip4k2c (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of PIP4K2C mRNA	CTD	PMID:22206623
PIP4K2C	Human	1,2-dimethylhydrazine	decreases expression	ISO	Pip4k2c (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of PIP4K2C mRNA	CTD	PMID:22206623
PIP4K2C	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Pip4k2c (Mus musculus)	6480464	AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of PIP4K2C mRNA]	CTD	PMID:15034205
PIP4K2C	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of PIP4K2C mRNA	CTD	PMID:33387578
PIP4K2C	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Pip4k2c (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of PIP4K2C mRNA	CTD	PMID:21570461 and PMID:24680724
PIP4K2C	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Pip4k2c (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of PIP4K2C mRNA	CTD	PMID:15034205
PIP4K2C	Human	2,4,6-tribromophenol	decreases expression	EXP		6480464	2 more ...	CTD	PMID:31675489
PIP4K2C	Human	2,4-dinitrotoluene	affects expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	2 and 4-dinitrotoluene affects the expression of PIP4K2C mRNA	CTD	PMID:21346803
PIP4K2C	Human	3,3',5,5'-tetrabromobisphenol A	increases expression	EXP		6480464	tetrabromobisphenol A results in increased expression of PIP4K2C protein	CTD	PMID:31675489
PIP4K2C	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	Pip4k2c (Mus musculus)	6480464	bisphenol S results in decreased expression of PIP4K2C mRNA	CTD	PMID:39298647
PIP4K2C	Human	acrylamide	increases expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	Acrylamide results in increased expression of PIP4K2C mRNA	CTD	PMID:28959563
PIP4K2C	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of PIP4K2C gene	CTD	PMID:27153756
PIP4K2C	Human	ammonium chloride	affects expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of PIP4K2C mRNA	CTD	PMID:16483693
PIP4K2C	Human	aristolochic acid A	increases expression	EXP		6480464	aristolochic acid I results in increased expression of PIP4K2C mRNA and aristolochic acid I results in increased expression of PIP4K2C protein	CTD	PMID:33212167
PIP4K2C	Human	arsenous acid	increases response to substance	EXP		6480464	PIP4K2C protein results in increased susceptibility to Arsenic Trioxide	CTD	PMID:22496355
PIP4K2C	Human	benzo[a]pyrene	decreases expression	ISO	Pip4k2c (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of PIP4K2C mRNA	CTD	PMID:15034205
PIP4K2C	Human	benzo[a]pyrene	multiple interactions	ISO	Pip4k2c (Mus musculus)	6480464	AHR protein inhibits the reaction [Benzo(a)pyrene results in decreased expression of PIP4K2C mRNA]	CTD	PMID:15034205
PIP4K2C	Human	beta-naphthoflavone	multiple interactions	ISO	Pip4k2c (Rattus norvegicus)	6480464	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of PIP4K2C mRNA	CTD	PMID:18164116
PIP4K2C	Human	bisphenol A	increases expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	bisphenol A results in increased expression of PIP4K2C mRNA	CTD	PMID:25181051
PIP4K2C	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of PIP4K2C protein	CTD	PMID:31675489
PIP4K2C	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of PIP4K2C mRNA	CTD	PMID:30903817
PIP4K2C	Human	butyric acid	increases expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	Butyric Acid results in increased expression of PIP4K2C mRNA	CTD	PMID:12800193
PIP4K2C	Human	calcitriol	increases expression	EXP		6480464	Calcitriol results in increased expression of PIP4K2C mRNA	CTD	PMID:26485663
PIP4K2C	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to PIP4K2C gene]	CTD	PMID:28238834
PIP4K2C	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of PIP4K2C mRNA	CTD	PMID:25562108
PIP4K2C	Human	decabromodiphenyl ether	increases expression	EXP		6480464	decabromobiphenyl ether results in increased expression of PIP4K2C protein	CTD	PMID:31675489
PIP4K2C	Human	diarsenic trioxide	increases response to substance	EXP		6480464	PIP4K2C protein results in increased susceptibility to Arsenic Trioxide	CTD	PMID:22496355
PIP4K2C	Human	dibutyl phthalate	increases expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	Dibutyl Phthalate results in increased expression of PIP4K2C mRNA	CTD	PMID:21266533
PIP4K2C	Human	dicrotophos	increases expression	EXP		6480464	dicrotophos results in increased expression of PIP4K2C mRNA	CTD	PMID:28302478
PIP4K2C	Human	diethylstilbestrol	increases expression	EXP		6480464	Diethylstilbestrol results in increased expression of PIP4K2C mRNA	CTD	PMID:36621641
PIP4K2C	Human	ethanol	affects splicing	ISO	Pip4k2c (Mus musculus)	6480464	Ethanol affects the splicing of PIP4K2C mRNA	CTD	PMID:30319688
PIP4K2C	Human	ethyl methanesulfonate	increases expression	EXP		6480464	Ethyl Methanesulfonate results in increased expression of PIP4K2C mRNA	CTD	PMID:23649840
PIP4K2C	Human	folic acid	increases expression	EXP		6480464	Folic Acid results in increased expression of PIP4K2C mRNA	CTD	PMID:21867686
PIP4K2C	Human	folic acid	multiple interactions	ISO	Pip4k2c (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of PIP4K2C mRNA	CTD	PMID:22206623
PIP4K2C	Human	formaldehyde	increases expression	EXP		6480464	Formaldehyde results in increased expression of PIP4K2C mRNA	CTD	PMID:23649840
PIP4K2C	Human	gentamycin	increases expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	Gentamicins results in increased expression of PIP4K2C mRNA	CTD	PMID:33387578
PIP4K2C	Human	glafenine	decreases expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	Glafenine results in decreased expression of PIP4K2C mRNA	CTD	PMID:24136188
PIP4K2C	Human	hydrogen cyanide	decreases expression	ISO	Pip4k2c (Mus musculus)	6480464	Hydrogen Cyanide results in decreased expression of PIP4K2C mRNA	CTD	PMID:33914522
PIP4K2C	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of PIP4K2C protein	CTD	PMID:32959892
PIP4K2C	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of PIP4K2C mRNA	CTD	PMID:23649840
PIP4K2C	Human	N-nitrosodiethylamine	multiple interactions	ISO	Pip4k2c (Rattus norvegicus)	6480464	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of PIP4K2C mRNA	CTD	PMID:18164116
PIP4K2C	Human	nitrates	multiple interactions	ISO	Pip4k2c (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of PIP4K2C mRNA	CTD	PMID:35964746
PIP4K2C	Human	okadaic acid	increases expression	EXP		6480464	Okadaic Acid results in increased expression of PIP4K2C mRNA	CTD	PMID:38832940
PIP4K2C	Human	paracetamol	affects expression	ISO	Pip4k2c (Mus musculus)	6480464	Acetaminophen affects the expression of PIP4K2C mRNA	CTD	PMID:15606129 and PMID:17562736
PIP4K2C	Human	paracetamol	increases expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of PIP4K2C mRNA	CTD	PMID:33387578
PIP4K2C	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of PIP4K2C mRNA	CTD	PMID:22230336
PIP4K2C	Human	potassium cyanide	increases expression	ISO	Pip4k2c (Mus musculus)	6480464	Potassium Cyanide results in increased expression of PIP4K2C mRNA	CTD	PMID:33914522
PIP4K2C	Human	potassium dichromate	increases expression	EXP		6480464	Potassium Dichromate results in increased expression of PIP4K2C protein	CTD	PMID:23718831
PIP4K2C	Human	Propiverine	affects binding	ISO	Pip4k2c (Rattus norvegicus)	6480464	propiverine binds to PIP4K2C protein	CTD	PMID:29273565
PIP4K2C	Human	resveratrol	increases expression	ISO	Pip4k2c (Mus musculus)	6480464	resveratrol results in increased expression of PIP4K2C protein	CTD	PMID:25505154
PIP4K2C	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of PIP4K2C mRNA	CTD	PMID:38568856
PIP4K2C	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of PIP4K2C protein	CTD	PMID:30528433
PIP4K2C	Human	Soman	decreases expression	ISO	Pip4k2c (Rattus norvegicus)	6480464	Soman results in decreased expression of PIP4K2C mRNA	CTD	PMID:19281266
PIP4K2C	Human	sunitinib	increases expression	EXP		6480464	Sunitinib results in increased expression of PIP4K2C mRNA	CTD	PMID:31533062
PIP4K2C	Human	tanespimycin	multiple interactions	EXP		6480464	[tanespimycin co-treated with VER 155008] results in increased expression of PIP4K2C protein	CTD	PMID:31370342
PIP4K2C	Human	titanium dioxide	increases methylation	ISO	Pip4k2c (Mus musculus)	6480464	titanium dioxide results in increased methylation of PIP4K2C promoter	CTD	PMID:35295148
PIP4K2C	Human	trichostatin A	affects expression	EXP		6480464	trichostatin A affects the expression of PIP4K2C mRNA	CTD	PMID:28542535
PIP4K2C	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of PIP4K2C mRNA	CTD	PMID:28818685
PIP4K2C	Human	valproic acid	affects expression	ISO	Pip4k2c (Mus musculus)	6480464	Valproic Acid affects the expression of PIP4K2C mRNA	CTD	PMID:17963808
PIP4K2C	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of PIP4K2C mRNA	CTD	PMID:23179753 more ...
PIP4K2C	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of PIP4K2C mRNA	CTD	PMID:25979313
PIP4K2C	Human	vitamin E	increases expression	EXP		6480464	Vitamin E results in increased expression of PIP4K2C mRNA	CTD	PMID:19244175

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIP4K2C	Human	1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process	involved_in	IDA		150520179	PMID:26774281	UniProt	PMID:26774281
PIP4K2C	Human	lipid metabolic process	involved_in	IEA	UniProtKB-KW:KW-0443	150520179		UniProt	GO_REF:0000043
PIP4K2C	Human	negative regulation of insulin receptor signaling pathway	involved_in	IMP		150520179	PMID:31091439	UniProt	PMID:31091439
PIP4K2C	Human	phosphatidylinositol metabolic process	involved_in	IEA	UniRule:UR000400519	150520179		UniProt	GO_REF:0000104
PIP4K2C	Human	phosphatidylinositol metabolic process	involved_in	IEA	InterPro:IPR002498	150520179		InterPro	GO_REF:0000002
PIP4K2C	Human	phosphatidylinositol phosphate biosynthetic process	involved_in	IBA	FB:FBgn0039924 more ...	150520179		GO_Central	GO_REF:0000033
PIP4K2C	Human	positive regulation of autophagosome assembly	involved_in	IMP		150520179	PMID:25578879	ParkinsonsUK-UCL	PMID:25578879
PIP4K2C	Human	regulation of autophagy	involved_in	IMP		150520179	PMID:25578879	ParkinsonsUK-UCL	PMID:25578879

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIP4K2C	Human	autophagosome	located_in	IMP		150520179	PMID:25578879	ParkinsonsUK-UCL	PMID:25578879
PIP4K2C	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
PIP4K2C	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
PIP4K2C	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
PIP4K2C	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-1675776
PIP4K2C	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-SubCell:SL-0095	150520179		UniProt	GO_REF:0000044
PIP4K2C	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
PIP4K2C	Human	extracellular exosome	located_in	HDA		150520179	PMID:18570454 and PMID:19056867	UniProt	PMID:18570454 and PMID:19056867
PIP4K2C	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
PIP4K2C	Human	plasma membrane	located_in	IDA		150520179		HPA	GO_REF:0000052
PIP4K2C	Human	plasma membrane	is_active_in	IBA	CGD:CAL0000192511 more ...	150520179		GO_Central	GO_REF:0000033

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIP4K2C	Human	1-phosphatidylinositol-4-phosphate 5-kinase activity		ISO	Pip4k2c (Rattus norvegicus)	9068941		RGD	PMID:9685379 and REF_RGD_ID:633581
PIP4K2C	Human	1-phosphatidylinositol-4-phosphate 5-kinase activity	enables	IDA		150520179	PMID:26774281	UniProt	PMID:26774281
PIP4K2C	Human	1-phosphatidylinositol-5-phosphate 4-kinase activity	enables	IEA	EC:2.7.1.149	150520179		UniProt	GO_REF:0000003
PIP4K2C	Human	1-phosphatidylinositol-5-phosphate 4-kinase activity	enables	IBA	FB:FBgn0039924 more ...	150520179		GO_Central	GO_REF:0000033
PIP4K2C	Human	1-phosphatidylinositol-5-phosphate 4-kinase activity	enables	IEA	RHEA:12280	150520179		RHEA	GO_REF:0000116
PIP4K2C	Human	ATP binding	enables	IEA	UniRule:UR000400519	150520179		UniProt	GO_REF:0000104
PIP4K2C	Human	ATP binding	enables	IEA	UniProtKB-KW:KW-0067	150520179		UniProt	GO_REF:0000043
PIP4K2C	Human	identical protein binding	enables	IPI	UniProtKB:Q8TBX8	150520179	PMID:18255255	IntAct	PMID:18255255
PIP4K2C	Human	kinase activity	enables	IEA	UniRule:UR000400519	150520179		UniProt	GO_REF:0000104
PIP4K2C	Human	kinase activity	enables	IEA	UniProtKB-KW:KW-0418	150520179		UniProt	GO_REF:0000043
PIP4K2C	Human	nucleotide binding	enables	IEA	UniProtKB-KW:KW-0547	150520179		UniProt	GO_REF:0000043
PIP4K2C	Human	nucleotide binding	enables	IEA	UniRule:UR000400519	150520179		UniProt	GO_REF:0000104
PIP4K2C	Human	phosphatidylinositol kinase activity	enables	IEA	InterPro:IPR002498	150520179		InterPro	GO_REF:0000002
PIP4K2C	Human	protein binding	enables	IPI	UniProtKB:Q99755	150520179	PMID:31091439	UniProt	PMID:31091439
PIP4K2C	Human	transferase activity	enables	IEA	UniProtKB-KW:KW-0808	150520179		UniProt	GO_REF:0000043
PIP4K2C	Human	transferase activity	enables	IEA	UniRule:UR000400519	150520179		UniProt	GO_REF:0000104

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIP4K2C	Human	inositol phosphate metabolic pathway		IEA		6907045		KEGG	hsa:00562
PIP4K2C	Human	phosphatidylinositol 3-kinase signaling pathway		IEA		6907045		KEGG	hsa:04070

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PIP4K2C	Human	Spastic paraplegia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:28492532
PIP4K2C	Human	Spastic paraplegia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:28492532

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

PMID:8125298	PMID:9367159	PMID:12477932	PMID:15046600	PMID:18029348	PMID:18255255	PMID:18570454	PMID:18794853	PMID:19056867	PMID:19322201	PMID:19644859	PMID:20439292
PMID:21461837	PMID:21832049	PMID:21873635	PMID:23376485	PMID:23455922	PMID:23758345	PMID:23940030	PMID:24366813	PMID:24980433	PMID:24981860	PMID:25281560	PMID:25495341
PMID:25544563	PMID:25578879	PMID:26186194	PMID:26344197	PMID:26549023	PMID:26774281	PMID:26885983	PMID:27034005	PMID:28514442	PMID:28515276	PMID:28656962	PMID:29128334
PMID:29395067	PMID:29467282	PMID:30463901	PMID:30554943	PMID:30718367	PMID:31076518	PMID:31091439	PMID:31109595	PMID:31239290	PMID:31753913	PMID:31822558	PMID:31871319
PMID:31973889	PMID:32374916	PMID:32423001	PMID:32707033	PMID:32994395	PMID:33187986	PMID:33961781	PMID:33995658	PMID:34315543	PMID:34591612	PMID:34597346	PMID:35152003
PMID:35235311	PMID:35256949	PMID:35271311	PMID:35509820	PMID:35545034	PMID:35831314	PMID:35944360	PMID:36215168	PMID:36273042	PMID:36398662	PMID:36736316	PMID:36898370
PMID:37827155	PMID:38113892	PMID:38286827	PMID:38580884	PMID:38943005

PIP4K2C
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	57,591,192 - 57,603,418 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	57,591,174 - 57,603,418 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	57,984,975 - 57,997,201 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	56,271,324 - 56,283,298 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	56,271,323 - 56,283,296	NCBI
Celera	12	57,640,774 - 57,653,027 (+)	NCBI		Celera
Cytogenetic Map	12	q13.3	NCBI
HuRef	12	55,022,647 - 55,034,898 (+)	NCBI		HuRef
CHM1_1	12	57,952,773 - 57,965,027 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	57,559,429 - 57,571,638 (+)	NCBI		T2T-CHM13v2.0

Pip4k2c
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	127,032,936 - 127,047,508 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	127,032,936 - 127,047,454 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	127,197,067 - 127,211,628 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	127,197,067 - 127,211,585 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	126,634,123 - 126,648,678 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	126,600,016 - 126,614,495 (-)	NCBI		MGSCv36	mm8
Celera	10	129,590,131 - 129,604,615 (-)	NCBI		Celera
Cytogenetic Map	10	D3	NCBI
cM Map	10	74.5	NCBI

Pip4k2c
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	64,905,322 - 64,920,380 (-)	NCBI		GRCr8
mRatBN7.2	7	63,020,004 - 63,035,086 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	63,020,000 - 63,035,078 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	64,909,290 - 64,924,337 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	67,111,704 - 67,126,752 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	66,912,777 - 66,927,839 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	70,483,948 - 70,498,995 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	70,483,942 - 70,498,995 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	70,661,192 - 70,676,538 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	67,151,468 - 67,166,564 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	67,172,688 - 67,187,294 (-)	NCBI
Celera	7	60,161,604 - 60,176,643 (-)	NCBI		Celera
Cytogenetic Map	7	q22	NCBI

Pip4k2c
(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_004955458	5,315,376 - 5,327,617 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	5,315,083 - 5,327,617 (+)	NCBI	ChiLan1.0	ChiLan1.0

PIP4K2C
(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	36,731,185 - 36,749,881 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	36,727,956 - 36,746,652 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	31,323,346 - 31,335,626 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	31,582,725 - 31,594,808 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	31,584,534 - 31,594,808 (-)	Ensembl	panpan1.1		panPan2

PIP4K2C
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	1,670,076 - 1,680,975 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	1,672,380 - 1,680,840 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	1,732,572 - 1,744,119 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	1,678,750 - 1,690,303 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	1,678,723 - 1,690,295 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	1,656,535 - 1,668,086 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	1,898,309 - 1,909,854 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	2,023,523 - 2,035,070 (+)	NCBI		UU_Cfam_GSD_1.0

Pip4k2c
(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	57,122,179 - 57,133,168 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936646	1,737,034 - 1,748,057 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936646	1,737,088 - 1,748,056 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PIP4K2C
(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	22,854,316 - 22,867,028 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	22,854,142 - 22,867,032 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	24,821,711 - 24,826,063 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PIP4K2C
(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	53,499,360 - 53,511,610 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	53,499,432 - 53,509,799 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	192,450,528 - 192,462,783 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pip4k2c
(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_004624802	10,359,888 - 10,370,909 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624802	10,359,891 - 10,370,931 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PIP4K2C
22 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	copy number loss	See cases [RCV000052813]	Chr12:57013355..63042498 [GRCh38] Chr12:57407139..63436278 [GRCh37] Chr12:55693406..61722545 [NCBI36] Chr12:12q13.3-14.2	pathogenic
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	copy number loss	See cases [RCV000052814]	Chr12:57041158..60273934 [GRCh38] Chr12:57434942..60667715 [GRCh37] Chr12:55721209..58953982 [NCBI36] Chr12:12q13.3-14.1	pathogenic
PIP4K2C:c.1090C>T	single nucleotide variant	Malignant melanoma [RCV000070145]	Chr12:57601253 [GRCh38] Chr12:57995036 [GRCh37] Chr12:56281303 [NCBI36] Chr12:12q13.3	not provided
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
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-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	copy number gain	not provided [RCV001006505]	Chr12:55552371..62126304 [GRCh37] Chr12:12q13.2-14.1	pathogenic
NC_000012.11:g.(?_57881874)_(58190366_?)dup	duplication	not provided [RCV001916382]	Chr12:57881874..58190366 [GRCh37] Chr12:12q13.3-14.1	uncertain significance
NC_000012.11:g.(?_57971476)_(58025915_?)dup	duplication	Spastic paraplegia [RCV003113623]	Chr12:57971476..58025915 [GRCh37] Chr12:12q13.3	uncertain significance
NC_000012.11:g.(?_57534470)_(58190366_?)dup	duplication	Familial melanoma [RCV003119257]	Chr12:57534470..58190366 [GRCh37] Chr12:12q13.3-14.1	uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	copy number loss	not provided [RCV002474565]	Chr12:57631073..58236597 [GRCh37] Chr12:12q13.3-14.1	likely pathogenic
NM_024779.5(PIP4K2C):c.932G>C (p.Gly311Ala)	single nucleotide variant	not specified [RCV004172712]	Chr12:57600929 [GRCh38] Chr12:57994712 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.931G>A (p.Gly311Arg)	single nucleotide variant	not specified [RCV004148883]	Chr12:57600928 [GRCh38] Chr12:57994711 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.113T>A (p.Val38Glu)	single nucleotide variant	not specified [RCV004241482]	Chr12:57591402 [GRCh38] Chr12:57985185 [GRCh37] Chr12:12q13.3	uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	copy number loss	not provided [RCV001006506]	Chr12:57582163..59031979 [GRCh37] Chr12:12q13.3-14.1	likely pathogenic
NM_024779.5(PIP4K2C):c.850C>A (p.Leu284Met)	single nucleotide variant	not specified [RCV004149823]	Chr12:57600847 [GRCh38] Chr12:57994630 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.628C>T (p.Arg210Cys)	single nucleotide variant	not specified [RCV004201796]	Chr12:57599179 [GRCh38] Chr12:57992962 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.224A>G (p.Asp75Gly)	single nucleotide variant	not specified [RCV004092452]	Chr12:57594074 [GRCh38] Chr12:57987857 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.187A>G (p.Ser63Gly)	single nucleotide variant	not specified [RCV004657259]	Chr12:57594037 [GRCh38] Chr12:57987820 [GRCh37] Chr12:12q13.3	uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	copy number loss	not provided [RCV003222783]	Chr12:57064059..59314016 [GRCh37] Chr12:12q13.3-14.1	likely pathogenic
NM_024779.5(PIP4K2C):c.1061A>C (p.Tyr354Ser)	single nucleotide variant	not specified [RCV004250181]	Chr12:57601058 [GRCh38] Chr12:57994841 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.11C>T (p.Ser4Phe)	single nucleotide variant	not specified [RCV004506039]	Chr12:57591300 [GRCh38] Chr12:57985083 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.1214C>T (p.Pro405Leu)	single nucleotide variant	not specified [RCV004506040]	Chr12:57601554 [GRCh38] Chr12:57995337 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.324C>A (p.Phe108Leu)	single nucleotide variant	not specified [RCV004506041]	Chr12:57595177 [GRCh38] Chr12:57988960 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.865G>A (p.Asp289Asn)	single nucleotide variant	not specified [RCV004506043]	Chr12:57600862 [GRCh38] Chr12:57994645 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.61G>T (p.Gly21Cys)	single nucleotide variant	not specified [RCV004648291]	Chr12:57591350 [GRCh38] Chr12:57985133 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.451A>G (p.Ile151Val)	single nucleotide variant	not specified [RCV004648292]	Chr12:57595969 [GRCh38] Chr12:57989752 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.256A>C (p.Asn86His)	single nucleotide variant	not specified [RCV004850464]	Chr12:57594106 [GRCh38] Chr12:57987889 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.199C>T (p.Pro67Ser)	single nucleotide variant	not specified [RCV004850463]	Chr12:57594049 [GRCh38] Chr12:57987832 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.496C>G (p.Leu166Val)	single nucleotide variant	not specified [RCV004844644]	Chr12:57596014 [GRCh38] Chr12:57989797 [GRCh37] Chr12:12q13.3	uncertain significance
NC_000012.11:g.(?_56711393)_(58190366_?)dup	duplication	Cataract 15 multiple types [RCV004578366]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV004578368]\|Spastic paraplegia [RCV004578367]	Chr12:56711393..58190366 [GRCh37] Chr12:12q13.3-14.1	uncertain significance
NM_024779.5(PIP4K2C):c.419G>A (p.Arg140His)	single nucleotide variant	not specified [RCV004844641]	Chr12:57595937 [GRCh38] Chr12:57989720 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.1061A>G (p.Tyr354Cys)	single nucleotide variant	not specified [RCV004844642]	Chr12:57601058 [GRCh38] Chr12:57994841 [GRCh37] Chr12:12q13.3	uncertain significance
NM_024779.5(PIP4K2C):c.688G>A (p.Asp230Asn)	single nucleotide variant	not specified [RCV004844643]	Chr12:57599427 [GRCh38] Chr12:57993210 [GRCh37] Chr12:12q13.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	2922
Count of miRNA genes:	937
Interacting mature miRNAs:	1134
Transcripts:	ENST00000354947, ENST00000422156, ENST00000540759, ENST00000548264, ENST00000550095, ENST00000550360, ENST00000550465, ENST00000551772
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597245515	GWAS1341589_H	IGF-1 measurement QTL GWAS1341589 (human)		4e-09	IGF-1 measurement	blood insulin-like growth factor 1 level (CMO:0001297)	12	57599707	57599708	Human
597240338	GWAS1336412_H	urate measurement QTL GWAS1336412 (human)		8e-12	urate measurement	blood uric acid level (CMO:0000501)	12	57599707	57599708	Human

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1948	465	2270	7303	6469	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_001146258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001146259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001146260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_024779	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005269152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011538747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017019973	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047429551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047429552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373245	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373247	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC022506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI167420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225685	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297243	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315588	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX754970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028596	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX419431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000354947 ⟹ ENSP00000347032

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,591,192 - 57,603,418 (+)	Ensembl

Ensembl Acc Id:

ENST00000422156 ⟹ ENSP00000412035

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,591,174 - 57,601,926 (+)	Ensembl

Ensembl Acc Id:

ENST00000540759 ⟹ ENSP00000439878

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,591,203 - 57,603,418 (+)	Ensembl

Ensembl Acc Id:

ENST00000548264 ⟹ ENSP00000449538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,599,090 - 57,600,977 (+)	Ensembl

Ensembl Acc Id:

ENST00000550095 ⟹ ENSP00000448042

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,591,266 - 57,600,436 (+)	Ensembl

Ensembl Acc Id:

ENST00000550360 ⟹ ENSP00000449335

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,591,246 - 57,599,144 (+)	Ensembl

Ensembl Acc Id:

ENST00000550465 ⟹ ENSP00000447390

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,591,243 - 57,601,879 (+)	Ensembl

Ensembl Acc Id:

ENST00000551772 ⟹ ENSP00000450197

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,591,222 - 57,599,094 (+)	Ensembl

RefSeq Acc Id:

NM_001146258 ⟹ NP_001139730

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,591,192 - 57,603,418 (+)	NCBI
GRCh37	12	57,984,942 - 57,997,211 (+)	RGD
Celera	12	57,640,774 - 57,653,027 (+)	RGD
HuRef	12	55,022,647 - 55,034,898 (+)	ENTREZGENE
CHM1_1	12	57,952,773 - 57,965,027 (+)	NCBI
T2T-CHM13v2.0	12	57,559,429 - 57,571,638 (+)	NCBI

Sequence:

show sequence

GGTCACGTGACAGCAGCGCAGGTGAGCGCCGCTTCCGGGGTCGGGCGCCTGGATAGCTGCCGGCTCCGGCTTCCACTTGGTCGGTTGCGCGGGAGACTATGGCGTCCTCCTCGGTCCCACCAGCCACG
GTATCGGCGGCGACAGCAGGCCCCGGCCCAGGTTTCGGCTTCGCCTCCAAGACCAAGAAGAAGCATTTCGTGCAGCAGAAGGTGAAGGTGTTCCGGGCGGCCGACCCGCTGGTGGGTGTGTTCCTGTG
GGGCGTAGCCCACTCGATCAATGAGCTCAGCCAGGTGCCTCCCCCGGTGATGCTGCTGCCAGATGACTTTAAGGCCAGCTCCAAGATCAAGGTCAACAATCACCTTTTCCACAGGGAAAATCTGCCCA
GTCATTTCAAGTTCAAGGAGTATTGTCCCCAGGTCTTCAGGAACCTCCGTGATCGATTTGGCATTGATGACCAAGATTACTTGGTGTCCCTTACCCGAAACCCCCCCAGCGAAAGTGAAGGCAGTGAT
GGTCGCTTCCTTATCTCCTACGATCGGACTCTGGTCATCAAAGAAGTATCCAGTGAGGACATTGCTGACATGCATAGCAACCTCTCCAACTATCACCAGTACATTGTGAAGTGCCATGGCAACACGCT
TCTGCCCCAGTTCCTGGGGATGTACCGAGTCAGTGTGGACAACGAAGACAGCTACATGCTTGTGATGCGCAATATGTTTAGCCACCGTCTTCCTGTGCACAGGAAGTATGACCTCAAGGGTTCCCTAG
TGTCCCGGGAAGCCAGCGATAAGGAAAAGGTTAAAGAATTGCCCACCCTTAAGGATATGGACTTTCTCAACAAGAACCAGAAAGTATATATTGGTGAAGAGGAGAAGAAAATATTTCTGGAGAAGCTG
AAGAGAGATGTGGAGTTTCTAGTGCAGCTGAAGATCATGGACTACAGCCTTCTGCTAGGCATCCACGACATCATTCGGGGCTCTGAACCAGAGGAGGAAGCGCCCGTGCGGGAGGATGAGTCAGAGGT
GGATGGGGACTGCAGCCTGACTGGACCTCCTGCTCTGGTGGGCTCCTATGGCACCTCCCCAGAGGGTATCGGAGGCTACATCCATTCCCATCGGCCCCTGGGCCCAGGAGAGTTTGAGTCCTTCATTG
ATGTCTATGCCATCCGGAGTGCTGAAGGAGCCCCCCAGAAGGAGGTCTACTTCATGGGCCTCATTGATATCCTTACACAGTATGATGCTAAGAAGAAAGCAGCTCATGCAGCCAAAACTGTCAAGCAT
GGGGCTGGGGCAGAGATCTCTACTGTCCATCCGGAGCAGTATGCTAAGCGATTCCTGGATTTTATTACCAACATCTTTGCCTAAGAGACTGCCTGGTTCTCTCTGATGTTCAAGGAGCTAGGGGAAGG
GGGTTGTTTGCCTTCTTCAGGACCTGACTGGACAGATGGACCTGGCTCAAGCAACTACTCTGGATGCACTTTGCTGTGTGGGATGAACTAAAAGTGTCTGAATTTTGCTGATAACTTTATAAAACTCA
CTATGGCATGCTTCCCTCCTGGTGGGCCCTAGGATGGATGACACTCAAGATACTACAGATGTGGGTGCAGGCATGCACACACACGATGGAATATGGCCATTCCTACACAGGTGGGGTAGAGAGTGGGT
CAGCAGCCTGGCACCTCACAGAGGTGGGACCTAAGAGGACTCATGATTATGCAGAGAATTGGATTGGGTCTCTGTCATAGATTGAGTAATCTCTTCCCTTACCTCAATTCCATCTCCACCCATCTCTA
CATCTGGGCACAGCAACCCAGAGATGGCCAAAAGCATTCAAGCCTGGGGGAAGATGTTTGACTATTGCTGCTCTTCACCAGAACCTCACACCTCTCCTGGGACTGGAACCCTTCAGTGGGTGTGTGGC
CAGTTTTGGAGGCTGGAATGATGGGCCAGGGTGTAGGATTCATTCTCCATGTAAAGTTTCCTTTCATCCTGCCTAGCCATCCCCAAGGTTTATTTCCAGAAGAAAGGAATATCTCTACTTGGATCAAT
TCTGGTCATTTCAAGAGGATGGAGGCCTCAAGTGTGGGAACTTCCCCTACTCCCTGGATGTGTGTACCTAGCACACTTCCTTCTCCCACCCCTTTTTCCAGTTGGATTTGTTTTTCTGTTCTCTTCTG
TCCTGTCTTATACTGCAACTGTGTCTCCTAGGGGACAGATGGCCTTCTTTGTCATCTTCACTCTCCACCCCCAGAGAGGAGTCAGAGCCATAACTCAATCACTCAGCCCCTCCAAAGATAGTTGATGT
GTGATAATCTCATAATGTTGAGAACCCTGATGAGATACATTGTCTTCCTCTCCCTACAATGCCTCTGGGGCCAAGGCACCCATTCTTCTTGCTATCCTCCATCCCCCTTGAGGCTTCCACTTTTTTTT
TTTTTAGACATAAAGCTGGGCATCAGCAACTGGCCTGTGGTGATGCAAAGCTGCTTTGCTCTGTATCTGGCTGGACTGATCTGTCTCACAAGAAGCCATGAGGCCATAGGGAGAAGCTCCCTCTCCCC
TTCATCTTCTGCTCCAAAGGTGGTAGCAAGAGGAGTACCCAGTTAGGGGTTGGAGCCCCCATATAACATCTTCCTGTCAGAAGACTGATGGATCTTTTTCATTCCAACCATCTCCCTTTCCCCCGATG
AATGCAATAAAACTCTGTGACACCAGCAACCATTGCTCTTTAGAAATGGGTTTTCTGATCATATGGCTGATGTGTTATGGGCAGTATGGATGTCTTCATTTGTTGCTTCTGTTTTTCATCTTTTTTGT
TTTATTAATAAAAATTTATGTATTTGCTCCTGTTACTATAATAATACAGGGAATAAATTATTCAATCCAAA

hide sequence

RefSeq Acc Id:

NM_001146259 ⟹ NP_001139731

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,591,192 - 57,603,418 (+)	NCBI
GRCh37	12	57,984,942 - 57,997,211 (+)	RGD
Celera	12	57,640,774 - 57,653,027 (+)	RGD
HuRef	12	55,022,647 - 55,034,898 (+)	ENTREZGENE
CHM1_1	12	57,952,773 - 57,965,027 (+)	NCBI
T2T-CHM13v2.0	12	57,559,429 - 57,571,638 (+)	NCBI

Sequence:

show sequence

GGTCACGTGACAGCAGCGCAGGTGAGCGCCGCTTCCGGGGTCGGGCGCCTGGATAGCTGCCGGCTCCGGCTTCCACTTGGTCGGTTGCGCGGGAGACTATGGCGTCCTCCTCGGTCCCACCAGCCACG
GTATCGGCGGCGACAGCAGGCCCCGGCCCAGGTTTCGGCTTCGCCTCCAAGACCAAGAAGAAGCATTTCGTGCAGCAGAAGGTGAAGGTGTTCCGGGCGGCCGACCCGCTGGTGGGTGTGTTCCTGTG
GGGCGTAGCCCACTCGATCAATGAGCTCAGCCAGGTGCCTCCCCCGGTGATGCTGCTGCCAGATGACTTTAAGGCCAGCTCCAAGATCAAGGAGTATTGTCCCCAGGTCTTCAGGAACCTCCGTGATC
GATTTGGCATTGATGACCAAGATTACTTGGTGTCCCTTACCCGAAACCCCCCCAGCGAAAGTGAAGGCAGTGATGGTCGCTTCCTTATCTCCTACGATCGGACTCTGGTCATCAAAGAAGTATCCAGT
GAGGACATTGCTGACATGCATAGCAACCTCTCCAACTATCACCAGTACATTGTGAAGTGCCATGGCAACACGCTTCTGCCCCAGTTCCTGGGGATGTACCGAGTCAGTGTGGACAACGAAGACAGCTA
CATGCTTGTGATGCGCAATATGTTTAGCCACCGTCTTCCTGTGCACAGGAAGTATGACCTCAAGGGTTCCCTAGTGTCCCGGGAAGCCAGCGATAAGGAAAAGGTTAAAGAATTGCCCACCCTTAAGG
ATATGGACTTTCTCAACAAGAACCAGAAAGTATATATTGGTGAAGAGGAGAAGAAAATATTTCTGGAGAAGCTGAAGAGAGATGTGGAGTTTCTAGTGCAGCTGAAGATCATGGACTACAGCCTTCTG
CTAGGCATCCACGACATCATTCGGGGCTCTGAACCAGAGGAGGAAGCGCCCGTGCGGGAGGATGAGTCAGAGGTGGATGGGGACTGCAGCCTGACTGGACCTCCTGCTCTGGTGGGCTCCTATGGCAC
CTCCCCAGAGGGTATCGGAGGCTACATCCATTCCCATCGGCCCCTGGGCCCAGGAGAGTTTGAGTCCTTCATTGATGTCTATGCCATCCGGAGTGCTGAAGGAGCCCCCCAGAAGGAGGTCTACTTCA
TGGGCCTCATTGATATCCTTACACAGTATGATGCTAAGAAGAAAGCAGCTCATGCAGCCAAAACTGTCAAGCATGGGGCTGGGGCAGAGATCTCTACTGTCCATCCGGAGCAGTATGCTAAGCGATTC
CTGGATTTTATTACCAACATCTTTGCCTAAGAGACTGCCTGGTTCTCTCTGATGTTCAAGGTGGTGGGGTTCTGAGACACTTGGGGGAATTGTGGGGATATTCTAGCCACCAGTTCTCTTCTTCCTTT
GCTAAATTCAGGCTGCAGGCTCCTTCCATCCAGATAACTCCATCCTGTCGAGTAGGCTCTTTCTGACCCTCAGAAATACATTGTCCTTTTTCCTCTTTGCCCATTTTTCTTCCCTCTCTTCCTCCCCA
TGAGAAGTCTGCTTGTAGTATTAGAATGTTATTGTTGACTCTCTCCCAAGTGCCTTGATCTTTGTAATATCTCCTGTTGTTTCTATGATATAGGAGCTAGGGGAAGGGGGTTGTTTGCCTTCTTCAGG
ACCTGACTGGACAGATGGACCTGGCTCAAGCAACTACTCTGGATGCACTTTGCTGTGTGGGATGAACTAAAAGTGTCTGAATTTTGCTGATAACTTTATAAAACTCACTATGGCATGCTTCCCTCCTG
GTGGGCCCTAGGATGGATGACACTCAAGATACTACAGATGTGGGTGCAGGCATGCACACACACGATGGAATATGGCCATTCCTACACAGGTGGGGTAGAGAGTGGGTCAGCAGCCTGGCACCTCACAG
AGGTGGGACCTAAGAGGACTCATGATTATGCAGAGAATTGGATTGGGTCTCTGTCATAGATTGAGTAATCTCTTCCCTTACCTCAATTCCATCTCCACCCATCTCTACATCTGGGCACAGCAACCCAG
AGATGGCCAAAAGCATTCAAGCCTGGGGGAAGATGTTTGACTATTGCTGCTCTTCACCAGAACCTCACACCTCTCCTGGGACTGGAACCCTTCAGTGGGTGTGTGGCCAGTTTTGGAGGCTGGAATGA
TGGGCCAGGGTGTAGGATTCATTCTCCATGTAAAGTTTCCTTTCATCCTGCCTAGCCATCCCCAAGGTTTATTTCCAGAAGAAAGGAATATCTCTACTTGGATCAATTCTGGTCATTTCAAGAGGATG
GAGGCCTCAAGTGTGGGAACTTCCCCTACTCCCTGGATGTGTGTACCTAGCACACTTCCTTCTCCCACCCCTTTTTCCAGTTGGATTTGTTTTTCTGTTCTCTTCTGTCCTGTCTTATACTGCAACTG
TGTCTCCTAGGGGACAGATGGCCTTCTTTGTCATCTTCACTCTCCACCCCCAGAGAGGAGTCAGAGCCATAACTCAATCACTCAGCCCCTCCAAAGATAGTTGATGTGTGATAATCTCATAATGTTGA
GAACCCTGATGAGATACATTGTCTTCCTCTCCCTACAATGCCTCTGGGGCCAAGGCACCCATTCTTCTTGCTATCCTCCATCCCCCTTGAGGCTTCCACTTTTTTTTTTTTTAGACATAAAGCTGGGC
ATCAGCAACTGGCCTGTGGTGATGCAAAGCTGCTTTGCTCTGTATCTGGCTGGACTGATCTGTCTCACAAGAAGCCATGAGGCCATAGGGAGAAGCTCCCTCTCCCCTTCATCTTCTGCTCCAAAGGT
GGTAGCAAGAGGAGTACCCAGTTAGGGGTTGGAGCCCCCATATAACATCTTCCTGTCAGAAGACTGATGGATCTTTTTCATTCCAACCATCTCCCTTTCCCCCGATGAATGCAATAAAACTCTGTGAC
ACCAGCAACCATTGCTCTTTAGAAATGGGTTTTCTGATCATATGGCTGATGTGTTATGGGCAGTATGGATGTCTTCATTTGTTGCTTCTGTTTTTCATCTTTTTTGTTTTATTAATAAAAATTTATGT
ATTTGCTCCTGTTACTATAATAATACAGGGAATAAATTATTCAATCCAAA

hide sequence

RefSeq Acc Id:

NM_001146260 ⟹ NP_001139732

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,591,192 - 57,603,418 (+)	NCBI
GRCh37	12	57,984,942 - 57,997,211 (+)	RGD
Celera	12	57,640,774 - 57,653,027 (+)	RGD
HuRef	12	55,022,647 - 55,034,898 (+)	ENTREZGENE
CHM1_1	12	57,952,773 - 57,965,027 (+)	NCBI
T2T-CHM13v2.0	12	57,559,429 - 57,571,638 (+)	NCBI

Sequence:

show sequence

GGTCACGTGACAGCAGCGCAGGTGAGCGCCGCTTCCGGGGTCGGGCGCCTGGATAGCTGCCGGC
TCCGGCTTCCACTTGGTCGGTTGCGCGGGAGACTATGGCGTCCTCCTCGGTCCCACCAGCCACGGTATCGGCGGCGACAGCAGGCCCCGGCCCAGGTTTCGGCTTCGCCTCCAAGACCAAGAAGAAGC
ATTTCGTGCAGCAGAAGGTGAAGGTGTTCCGGGCGGCCGACCCGCTGGTGGGTGTGTTCCTGTGGGGCGTAGCCCACTCGATCAATGAGCTCAGCCAGGTGCCTCCCCCGGTGATGCTGCTGCCAGAT
GACTTTAAGGCCAGCTCCAAGATCAAGGTCAACAATCACCTTTTCCACAGGGAAAATCTGCCCAGTCATTTCAAGTTCAAGGAGTATTGTCCCCAGGTCTTCAGGAACCTCCGTGATCGATTTGGCAT
TGATGACCAAGATTACTTGTACATTGTGAAGTGCCATGGCAACACGCTTCTGCCCCAGTTCCTGGGGATGTACCGAGTCAGTGTGGACAACGAAGACAGCTACATGCTTGTGATGCGCAATATGTTTA
GCCACCGTCTTCCTGTGCACAGGAAGTATGACCTCAAGGGTTCCCTAGTGTCCCGGGAAGCCAGCGATAAGGAAAAGGTTAAAGAATTGCCCACCCTTAAGGATATGGACTTTCTCAACAAGAACCAG
AAAGTATATATTGGTGAAGAGGAGAAGAAAATATTTCTGGAGAAGCTGAAGAGAGATGTGGAGTTTCTAGTGCAGCTGAAGATCATGGACTACAGCCTTCTGCTAGGCATCCACGACATCATTCGGGG
CTCTGAACCAGAGGAGGAAGCGCCCGTGCGGGAGGATGAGTCAGAGGTGGATGGGGACTGCAGCCTGACTGGACCTCCTGCTCTGGTGGGCTCCTATGGCACCTCCCCAGAGGGTATCGGAGGCTACA
TCCATTCCCATCGGCCCCTGGGCCCAGGAGAGTTTGAGTCCTTCATTGATGTCTATGCCATCCGGAGTGCTGAAGGAGCCCCCCAGAAGGAGGTCTACTTCATGGGCCTCATTGATATCCTTACACAG
TATGATGCTAAGAAGAAAGCAGCTCATGCAGCCAAAACTGTCAAGCATGGGGCTGGGGCAGAGATCTCTACTGTCCATCCGGAGCAGTATGCTAAGCGATTCCTGGATTTTATTACCAACATCTTTGC
CTAAGAGACTGCCTGGTTCTCTCTGATGTTCAAGGTGGTGGGGTTCTGAGACACTTGGGGGAATTGTGGGGATATTCTAGCCACCAGTTCTCTTCTTCCTTTGCTAAATTCAGGCTGCAGGCTCCTTC
CATCCAGATAACTCCATCCTGTCGAGTAGGCTCTTTCTGACCCTCAGAAATACATTGTCCTTTTTCCTCTTTGCCCATTTTTCTTCCCTCTCTTCCTCCCCATGAGAAGTCTGCTTGTAGTATTAGAA
TGTTATTGTTGACTCTCTCCCAAGTGCCTTGATCTTTGTAATATCTCCTGTTGTTTCTATGATATAGGAGCTAGGGGAAGGGGGTTGTTTGCCTTCTTCAGGACCTGACTGGACAGATGGACCTGGCT
CAAGCAACTACTCTGGATGCACTTTGCTGTGTGGGATGAACTAAAAGTGTCTGAATTTTGCTGATAACTTTATAAAACTCACTATGGCATGCTTCCCTCCTGGTGGGCCCTAGGATGGATGACACTCA
AGATACTACAGATGTGGGTGCAGGCATGCACACACACGATGGAATATGGCCATTCCTACACAGGTGGGGTAGAGAGTGGGTCAGCAGCCTGGCACCTCACAGAGGTGGGACCTAAGAGGACTCATGAT
TATGCAGAGAATTGGATTGGGTCTCTGTCATAGATTGAGTAATCTCTTCCCTTACCTCAATTCCATCTCCACCCATCTCTACATCTGGGCACAGCAACCCAGAGATGGCCAAAAGCATTCAAGCCTGG
GGGAAGATGTTTGACTATTGCTGCTCTTCACCAGAACCTCACACCTCTCCTGGGACTGGAACCCTTCAGTGGGTGTGTGGCCAGTTTTGGAGGCTGGAATGATGGGCCAGGGTGTAGGATTCATTCTC
CATGTAAAGTTTCCTTTCATCCTGCCTAGCCATCCCCAAGGTTTATTTCCAGAAGAAAGGAATATCTCTACTTGGATCAATTCTGGTCATTTCAAGAGGATGGAGGCCTCAAGTGTGGGAACTTCCCC
TACTCCCTGGATGTGTGTACCTAGCACACTTCCTTCTCCCACCCCTTTTTCCAGTTGGATTTGTTTTTCTGTTCTCTTCTGTCCTGTCTTATACTGCAACTGTGTCTCCTAGGGGACAGATGGCCTTC
TTTGTCATCTTCACTCTCCACCCCCAGAGAGGAGTCAGAGCCATAACTCAATCACTCAGCCCCTCCAAAGATAGTTGATGTGTGATAATCTCATAATGTTGAGAACCCTGATGAGATACATTGTCTTC
CTCTCCCTACAATGCCTCTGGGGCCAAGGCACCCATTCTTCTTGCTATCCTCCATCCCCCTTGAGGCTTCCACTTTTTTTTTTTTTAGACATAAAGCTGGGCATCAGCAACTGGCCTGTGGTGATGCA
AAGCTGCTTTGCTCTGTATCTGGCTGGACTGATCTGTCTCACAAGAAGCCATGAGGCCATAGGGAGAAGCTCCCTCTCCCCTTCATCTTCTGCTCCAAAGGTGGTAGCAAGAGGAGTACCCAGTTAGG
GGTTGGAGCCCCCATATAACATCTTCCTGTCAGAAGACTGATGGATCTTTTTCATTCCAACCATCTCCCTTTCCCCCGATGAATGCAATAAAACTCTGTGACACCAGCAACCATTGCTCTTTAGAAAT
GGGTTTTCTGATCATATGGCTGATGTGTTATGGGCAGTATGGATGTCTTCATTTGTTGCTTCTGTTTTTCATCTTTTTTGTTTTATTAATAAAAATTTATGTATTTGCTCCTGTTACTATAATAATAC
AGGGAATAAATTATTCAATCCAAA

hide sequence

RefSeq Acc Id:

NM_024779 ⟹ NP_079055

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,591,192 - 57,603,418 (+)	NCBI
GRCh37	12	57,984,942 - 57,997,211 (+)	RGD
Build 36	12	56,271,324 - 56,283,298 (+)	NCBI Archive
Celera	12	57,640,774 - 57,653,027 (+)	RGD
HuRef	12	55,022,647 - 55,034,898 (+)	ENTREZGENE
CHM1_1	12	57,952,773 - 57,965,027 (+)	NCBI
T2T-CHM13v2.0	12	57,559,429 - 57,571,638 (+)	NCBI

Sequence:

show sequence

GGTCACGTGACAGCAGCGCAGGTGAGCGCCGCTTCCGGGGTCGGGCGCCTGGATAGCTGCCGGC
TCCGGCTTCCACTTGGTCGGTTGCGCGGGAGACTATGGCGTCCTCCTCGGTCCCACCAGCCACGGTATCGGCGGCGACAGCAGGCCCCGGCCCAGGTTTCGGCTTCGCCTCCAAGACCAAGAAGAAGC
ATTTCGTGCAGCAGAAGGTGAAGGTGTTCCGGGCGGCCGACCCGCTGGTGGGTGTGTTCCTGTGGGGCGTAGCCCACTCGATCAATGAGCTCAGCCAGGTGCCTCCCCCGGTGATGCTGCTGCCAGAT
GACTTTAAGGCCAGCTCCAAGATCAAGGTCAACAATCACCTTTTCCACAGGGAAAATCTGCCCAGTCATTTCAAGTTCAAGGAGTATTGTCCCCAGGTCTTCAGGAACCTCCGTGATCGATTTGGCAT
TGATGACCAAGATTACTTGGTGTCCCTTACCCGAAACCCCCCCAGCGAAAGTGAAGGCAGTGATGGTCGCTTCCTTATCTCCTACGATCGGACTCTGGTCATCAAAGAAGTATCCAGTGAGGACATTG
CTGACATGCATAGCAACCTCTCCAACTATCACCAGTACATTGTGAAGTGCCATGGCAACACGCTTCTGCCCCAGTTCCTGGGGATGTACCGAGTCAGTGTGGACAACGAAGACAGCTACATGCTTGTG
ATGCGCAATATGTTTAGCCACCGTCTTCCTGTGCACAGGAAGTATGACCTCAAGGGTTCCCTAGTGTCCCGGGAAGCCAGCGATAAGGAAAAGGTTAAAGAATTGCCCACCCTTAAGGATATGGACTT
TCTCAACAAGAACCAGAAAGTATATATTGGTGAAGAGGAGAAGAAAATATTTCTGGAGAAGCTGAAGAGAGATGTGGAGTTTCTAGTGCAGCTGAAGATCATGGACTACAGCCTTCTGCTAGGCATCC
ACGACATCATTCGGGGCTCTGAACCAGAGGAGGAAGCGCCCGTGCGGGAGGATGAGTCAGAGGTGGATGGGGACTGCAGCCTGACTGGACCTCCTGCTCTGGTGGGCTCCTATGGCACCTCCCCAGAG
GGTATCGGAGGCTACATCCATTCCCATCGGCCCCTGGGCCCAGGAGAGTTTGAGTCCTTCATTGATGTCTATGCCATCCGGAGTGCTGAAGGAGCCCCCCAGAAGGAGGTCTACTTCATGGGCCTCAT
TGATATCCTTACACAGTATGATGCTAAGAAGAAAGCAGCTCATGCAGCCAAAACTGTCAAGCATGGGGCTGGGGCAGAGATCTCTACTGTCCATCCGGAGCAGTATGCTAAGCGATTCCTGGATTTTA
TTACCAACATCTTTGCCTAAGAGACTGCCTGGTTCTCTCTGATGTTCAAGGTGGTGGGGTTCTGAGACACTTGGGGGAATTGTGGGGATATTCTAGCCACCAGTTCTCTTCTTCCTTTGCTAAATTCA
GGCTGCAGGCTCCTTCCATCCAGATAACTCCATCCTGTCGAGTAGGCTCTTTCTGACCCTCAGAAATACATTGTCCTTTTTCCTCTTTGCCCATTTTTCTTCCCTCTCTTCCTCCCCATGAGAAGTCT
GCTTGTAGTATTAGAATGTTATTGTTGACTCTCTCCCAAGTGCCTTGATCTTTGTAATATCTCCTGTTGTTTCTATGATATAGGAGCTAGGGGAAGGGGGTTGTTTGCCTTCTTCAGGACCTGACTGG
ACAGATGGACCTGGCTCAAGCAACTACTCTGGATGCACTTTGCTGTGTGGGATGAACTAAAAGTGTCTGAATTTTGCTGATAACTTTATAAAACTCACTATGGCATGCTTCCCTCCTGGTGGGCCCTA
GGATGGATGACACTCAAGATACTACAGATGTGGGTGCAGGCATGCACACACACGATGGAATATGGCCATTCCTACACAGGTGGGGTAGAGAGTGGGTCAGCAGCCTGGCACCTCACAGAGGTGGGACC
TAAGAGGACTCATGATTATGCAGAGAATTGGATTGGGTCTCTGTCATAGATTGAGTAATCTCTTCCCTTACCTCAATTCCATCTCCACCCATCTCTACATCTGGGCACAGCAACCCAGAGATGGCCAA
AAGCATTCAAGCCTGGGGGAAGATGTTTGACTATTGCTGCTCTTCACCAGAACCTCACACCTCTCCTGGGACTGGAACCCTTCAGTGGGTGTGTGGCCAGTTTTGGAGGCTGGAATGATGGGCCAGGG
TGTAGGATTCATTCTCCATGTAAAGTTTCCTTTCATCCTGCCTAGCCATCCCCAAGGTTTATTTCCAGAAGAAAGGAATATCTCTACTTGGATCAATTCTGGTCATTTCAAGAGGATGGAGGCCTCAA
GTGTGGGAACTTCCCCTACTCCCTGGATGTGTGTACCTAGCACACTTCCTTCTCCCACCCCTTTTTCCAGTTGGATTTGTTTTTCTGTTCTCTTCTGTCCTGTCTTATACTGCAACTGTGTCTCCTAG
GGGACAGATGGCCTTCTTTGTCATCTTCACTCTCCACCCCCAGAGAGGAGTCAGAGCCATAACTCAATCACTCAGCCCCTCCAAAGATAGTTGATGTGTGATAATCTCATAATGTTGAGAACCCTGAT
GAGATACATTGTCTTCCTCTCCCTACAATGCCTCTGGGGCCAAGGCACCCATTCTTCTTGCTATCCTCCATCCCCCTTGAGGCTTCCACTTTTTTTTTTTTTAGACATAAAGCTGGGCATCAGCAACT
GGCCTGTGGTGATGCAAAGCTGCTTTGCTCTGTATCTGGCTGGACTGATCTGTCTCACAAGAAGCCATGAGGCCATAGGGAGAAGCTCCCTCTCCCCTTCATCTTCTGCTCCAAAGGTGGTAGCAAGA
GGAGTACCCAGTTAGGGGTTGGAGCCCCCATATAACATCTTCCTGTCAGAAGACTGATGGATCTTTTTCATTCCAACCATCTCCCTTTCCCCCGATGAATGCAATAAAACTCTGTGACACCAGCAACC
ATTGCTCTTTAGAAATGGGTTTTCTGATCATATGGCTGATGTGTTATGGGCAGTATGGATGTCTTCATTTGTTGCTTCTGTTTTTCATCTTTTTTGTTTTATTAATAAAAATTTATGTATTTGCTCCT
GTTACTATAATAATACAGGGAATAAATTATTCAATCCAAA

hide sequence

RefSeq Acc Id:

XM_005269152 ⟹ XP_005269209

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,591,192 - 57,603,418 (+)	NCBI
GRCh37	12	57,984,942 - 57,997,211 (+)	NCBI

Sequence:

show sequence

CTCCGGTCACGTGACAGCAGCGCAGGTGAGCGCCGCTTCCGGGGTCGGGCGCCTGGATAGCTGC
CGGCTCCGGCTTCCACTTGGTCGGTTGCGCGGGAGACTATGGCGTCCTCCTCGGTCCCACCAGCCACGGTATCGGCGGCGACAGCAGGCCCCGGCCCAGGTTTCGGCTTCGCCTCCAAGACCAAGAAG
AAGCATTTCGTGCAGCAGAAGGTGAAGGTGTTCCGGGCGGCCGACCCGCTGGTGGGTGTGTTCCTGTGGGGCGTAGCCCACTCGATCAATGAGCTCAGCCAGGTGCCTCCCCCGGTGATGCTGCTGCC
AGATGACTTTAAGGCCAGCTCCAAGATCAAGGTCAACAATCACCTTTTCCACAGGGAAAATCTGCCCAGTCATTTCAAGTTCAAGGAGTATTGTCCCCAGGTCTTCAGGAACCTCCGTGATCGATTTG
GCATTGATGACCAAGATTACTTGGTGTCCCTTACCCGAAACCCCCCCAGCGAAAGTGAAGGCAGTGATGGTCGCTTCCTTATCTCCTACGATCGGACTCTGGTCATCAAAGAAGTATCCAGTGAGGAC
ATTGCTGACATGCATAGCAACCTCTCCAACTATCACCAGTACATTGTGAAGTGCCATGGCAACACGCTTCTGCCCCAGTTCCTGGGGATGTACCGAGTCAGTGTGGACAACGAAGACAGCTACATGCT
TGTGATGCGCAATATGTTTAGCCACCGTCTTCCTGTGCACAGGAAGTATGACCTCAAGGTTAAAGAATTGCCCACCCTTAAGGATATGGACTTTCTCAACAAGAACCAGAAAGTATATATTGGTGAAG
AGGAGAAGAAAATATTTCTGGAGAAGCTGAAGAGAGATGTGGAGTTTCTAGTGCAGCTGAAGATCATGGACTACAGCCTTCTGCTAGGCATCCACGACATCATTCGGGGCTCTGAACCAGAGGAGGAA
GCGCCCGTGCGGGAGGATGAGTCAGAGGTGGATGGGGACTGCAGCCTGACTGGACCTCCTGCTCTGGTGGGCTCCTATGGCACCTCCCCAGAGGGTATCGGAGGCTACATCCATTCCCATCGGCCCCT
GGGCCCAGGAGAGTTTGAGTCCTTCATTGATGTCTATGCCATCCGGAGTGCTGAAGGAGCCCCCCAGAAGGAGGTCTACTTCATGGGCCTCATTGATATCCTTACACAGTATGATGCTAAGAAGAAAG
CAGCTCATGCAGCCAAAACTGTCAAGCATGGGGCTGGGGCAGAGATCTCTACTGTCCATCCGGAGCAGTATGCTAAGCGATTCCTGGATTTTATTACCAACATCTTTGCCTAAGAGACTGCCTGGTTC
TCTCTGATGTTCAAGGTGGTGGGGTTCTGAGACACTTGGGGGAATTGTGGGGATATTCTAGCCACCAGTTCTCTTCTTCCTTTGCTAAATTCAGGCTGCAGGCTCCTTCCATCCAGATAACTCCATCC
TGTCGAGTAGGCTCTTTCTGACCCTCAGAAATACATTGTCCTTTTTCCTCTTTGCCCATTTTTCTTCCCTCTCTTCCTCCCCATGAGAAGTCTGCTTGTAGTATTAGAATGTTATTGTTGACTCTCTC
CCAAGTGCCTTGATCTTTGTAATATCTCCTGTTGTTTCTATGATATAGGAGCTAGGGGAAGGGGGTTGTTTGCCTTCTTCAGGACCTGACTGGACAGATGGACCTGGCTCAAGCAACTACTCTGGATG
CACTTTGCTGTGTGGGATGAACTAAAAGTGTCTGAATTTTGCTGATAACTTTATAAAACTCACTATGGCATGCTTCCCTCCTGGTGGGCCCTAGGATGGATGACACTCAAGATACTACAGATGTGGGT
GCAGGCATGCACACACACGATGGAATATGGCCATTCCTACACAGGTGGGGTAGAGAGTGGGTCAGCAGCCTGGCACCTCACAGAGGTGGGACCTAAGAGGACTCATGATTATGCAGAGAATTGGATTG
GGTCTCTGTCATAGATTGAGTAATCTCTTCCCTTACCTCAATTCCATCTCCACCCATCTCTACATCTGGGCACAGCAACCCAGAGATGGCCAAAAGCATTCAAGCCTGGGGGAAGATGTTTGACTATT
GCTGCTCTTCACCAGAACCTCACACCTCTCCTGGGACTGGAACCCTTCAGTGGGTGTGTGGCCAGTTTTGGAGGCTGGAATGATGGGCCAGGGTGTAGGATTCATTCTCCATGTAAAGTTTCCTTTCA
TCCTGCCTAGCCATCCCCAAGGTTTATTTCCAGAAGAAAGGAATATCTCTACTTGGATCAATTCTGGTCATTTCAAGAGGATGGAGGCCTCAAGTGTGGGAACTTCCCCTACTCCCTGGATGTGTGTA
CCTAGCACACTTCCTTCTCCCACCCCTTTTTCCAGTTGGATTTGTTTTTCTGTTCTCTTCTGTCCTGTCTTATACTGCAACTGTGTCTCCTAGGGGACAGATGGCCTTCTTTGTCATCTTCACTCTCC
ACCCCCAGAGAGGAGTCAGAGCCATAACTCAATCACTCAGCCCCTCCAAAGATAGTTGATGTGTGATAATCTCATAATGTTGAGAACCCTGATGAGATACATTGTCTTCCTCTCCCTACAATGCCTCT
GGGGCCAAGGCACCCATTCTTCTTGCTATCCTCCATCCCCCTTGAGGCTTCCACTTTTTTTTTTTTTAGACATAAAGCTGGGCATCAGCAACTGGCCTGTGGTGATGCAAAGCTGCTTTGCTCTGTAT
CTGGCTGGACTGATCTGTCTCACAAGAAGCCATGAGGCCATAGGGAGAAGCTCCCTCTCCCCTTCATCTTCTGCTCCAAAGGTGGTAGCAAGAGGAGTACCCAGTTAGGGGTTGGAGCCCCCATATAA
CATCTTCCTGTCAGAAGACTGATGGATCTTTTTCATTCCAACCATCTCCCTTTCCCCCGATGAATGCAATAAAACTCTGTGACACCAGCAACCATTGCTCTTTAGAAATGGGTTTTCTGATCATATGG
CTGATGTGTTATGGGCAGTATGGATGTCTTCATTTGTTGCTTCTGTTTTTCATCTTTTTTGTTTTATTAATAAAAATTTATGTATTTGCTCCTGTTACTATAATAATACAGGGAATAAATTATTCAAT
CCAAA

hide sequence

RefSeq Acc Id:

XM_011538747 ⟹ XP_011537049

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,591,192 - 57,599,817 (+)	NCBI

Sequence:

show sequence

CTCCGGTCACGTGACAGCAGCGCAGGTGAGCGCCGCTTCCGGGGTCGGGCGCCTGGATAGCTGC
CGGCTCCGGCTTCCACTTGGTCGGTTGCGCGGGAGACTATGGCGTCCTCCTCGGTCCCACCAGCCACGGTATCGGCGGCGACAGCAGGCCCCGGCCCAGGTTTCGGCTTCGCCTCCAAGACCAAGAAG
AAGCATTTCGTGCAGCAGAAGGTGAAGGTGTTCCGGGCGGCCGACCCGCTGGTGGGTGTGTTCCTGTGGGGCGTAGCCCACTCGATCAATGAGCTCAGCCAGGTGCCTCCCCCGGTGATGCTGCTGCC
AGATGACTTTAAGGCCAGCTCCAAGATCAAGGTCAACAATCACCTTTTCCACAGGGAAAATCTGCCCAGTCATTTCAAGTTCAAGGAGTATTGTCCCCAGGTCTTCAGGAACCTCCGTGATCGATTTG
GCATTGATGACCAAGATTACTTGGTGTCCCTTACCCGAAACCCCCCCAGCGAAAGTGAAGGCAGTGATGGTCGCTTCCTTATCTCCTACGATCGGACTCTGGTCATCAAAGAAGTATCCAGTGAGGAC
ATTGCTGACATGCATAGCAACCTCTCCAACTATCACCAGTACATTGTGAAGTGCCATGGCAACACGCTTCTGCCCCAGTTCCTGGGGATGTACCGAGTCAGTGTGGACAACGAAGACAGCTACATGCT
TGTGATGCGCAATATGTTTAGCCACCGTCTTCCTGTGCACAGGAAGTATGACCTCAAGGGTTCCCTAGTGTCCCGGGAAGCCAGCGATAAGGAAAAGCTACTTTTGCTTAAGAAGACACAGGCCGGGC
ATGGTGGCTTATGCATGTAATCCCAGCACTTTAGA

hide sequence

RefSeq Acc Id:

XM_047429551 ⟹ XP_047285507

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,592,220 - 57,603,418 (+)	NCBI

RefSeq Acc Id:

XM_047429552 ⟹ XP_047285508

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,597,958 - 57,603,418 (+)	NCBI

RefSeq Acc Id:

XM_054373244 ⟹ XP_054229219

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	57,559,429 - 57,571,638 (+)	NCBI

RefSeq Acc Id:

XM_054373245 ⟹ XP_054229220

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	57,560,457 - 57,571,638 (+)	NCBI

RefSeq Acc Id:

XM_054373246 ⟹ XP_054229221

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	57,566,192 - 57,571,638 (+)	NCBI

RefSeq Acc Id:

XM_054373247 ⟹ XP_054229222

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	57,559,429 - 57,568,049 (+)	NCBI


Protein RefSeqs	NP_001139730	(Get FASTA)	NCBI Sequence Viewer
	NP_001139731	(Get FASTA)	NCBI Sequence Viewer
	NP_001139732	(Get FASTA)	NCBI Sequence Viewer
	NP_079055	(Get FASTA)	NCBI Sequence Viewer
	XP_005269209	(Get FASTA)	NCBI Sequence Viewer
	XP_011537049	(Get FASTA)	NCBI Sequence Viewer
	XP_047285507	(Get FASTA)	NCBI Sequence Viewer
	XP_047285508	(Get FASTA)	NCBI Sequence Viewer
	XP_054229219	(Get FASTA)	NCBI Sequence Viewer
	XP_054229220	(Get FASTA)	NCBI Sequence Viewer
	XP_054229221	(Get FASTA)	NCBI Sequence Viewer
	XP_054229222	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH28596	(Get FASTA)	NCBI Sequence Viewer
	BAB15223	(Get FASTA)	NCBI Sequence Viewer
	BAG37960	(Get FASTA)	NCBI Sequence Viewer
	BAG52165	(Get FASTA)	NCBI Sequence Viewer
	BAG54209	(Get FASTA)	NCBI Sequence Viewer
	BAG59723	(Get FASTA)	NCBI Sequence Viewer
	BAG63606	(Get FASTA)	NCBI Sequence Viewer
	CAD99241	(Get FASTA)	NCBI Sequence Viewer
	EAW97031	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000347032
	ENSP00000347032.5
	ENSP00000412035
	ENSP00000412035.3
	ENSP00000439878
	ENSP00000439878.2
	ENSP00000447390
	ENSP00000447390.1
GenBank Protein	Q8TBX8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_079055 ⟸ NM_024779
- Peptide Label:	isoform a
- UniProtKB:	B4DY44 (UniProtKB/Swiss-Prot), B4DM11 (UniProtKB/Swiss-Prot), B2RDL3 (UniProtKB/Swiss-Prot), Q9H6N2 (UniProtKB/Swiss-Prot), Q8TBX8 (UniProtKB/Swiss-Prot), B3KWP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASSSVPPATVSAATAGPGPGFGFASKTKKKHFVQQKVKVFRAADPLVGVFLWGVAHSINELSQVPPPVMLLPDDFKASSKIKVNNHLFHRENLPSHFKFKEYCPQVFRNLRDRFGIDDQDYLVSLTR NPPSESEGSDGRFLISYDRTLVIKEVSSEDIADMHSNLSNYHQYIVKCHGNTLLPQFLGMYRVSVDNEDSYMLVMRNMFSHRLPVHRKYDLKGSLVSREASDKEKVKELPTLKDMDFLNKNQKVYIGE EEKKIFLEKLKRDVEFLVQLKIMDYSLLLGIHDIIRGSEPEEEAPVREDESEVDGDCSLTGPPALVGSYGTSPEGIGGYIHSHRPLGPGEFESFIDVYAIRSAEGAPQKEVYFMGLIDILTQYDAKKK AAHAAKTVKHGAGAEISTVHPEQYAKRFLDFITNIFA hide sequence

RefSeq Acc Id:	NP_001139730 ⟸ NM_001146258
- Peptide Label:	isoform a
- UniProtKB:	B4DY44 (UniProtKB/Swiss-Prot), B4DM11 (UniProtKB/Swiss-Prot), B2RDL3 (UniProtKB/Swiss-Prot), Q9H6N2 (UniProtKB/Swiss-Prot), Q8TBX8 (UniProtKB/Swiss-Prot), B3KWP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASSSVPPATVSAATAGPGPGFGFASKTKKKHFVQQKVKVFRAADPLVGVFLWGVAHSINELSQ VPPPVMLLPDDFKASSKIKVNNHLFHRENLPSHFKFKEYCPQVFRNLRDRFGIDDQDYLVSLTRNPPSESEGSDGRFLISYDRTLVIKEVSSEDIADMHSNLSNYHQYIVKCHGNTLLPQFLGMYRVS VDNEDSYMLVMRNMFSHRLPVHRKYDLKGSLVSREASDKEKVKELPTLKDMDFLNKNQKVYIGEEEKKIFLEKLKRDVEFLVQLKIMDYSLLLGIHDIIRGSEPEEEAPVREDESEVDGDCSLTGPPA LVGSYGTSPEGIGGYIHSHRPLGPGEFESFIDVYAIRSAEGAPQKEVYFMGLIDILTQYDAKKKAAHAAKTVKHGAGAEISTVHPEQYAKRFLDFITNIFA hide sequence

RefSeq Acc Id:	NP_001139731 ⟸ NM_001146259
- Peptide Label:	isoform b
- UniProtKB:	B3KWP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASSSVPPATVSAATAGPGPGFGFASKTKKKHFVQQKVKVFRAADPLVGVFLWGVAHSINELSQVPPPVMLLPDDFKASSKIKEYCPQVFRNLRDRFGIDDQDYLVSLTRNPPSESEGSDGRFLISYD RTLVIKEVSSEDIADMHSNLSNYHQYIVKCHGNTLLPQFLGMYRVSVDNEDSYMLVMRNMFSHRLPVHRKYDLKGSLVSREASDKEKVKELPTLKDMDFLNKNQKVYIGEEEKKIFLEKLKRDVEFLV QLKIMDYSLLLGIHDIIRGSEPEEEAPVREDESEVDGDCSLTGPPALVGSYGTSPEGIGGYIHSHRPLGPGEFESFIDVYAIRSAEGAPQKEVYFMGLIDILTQYDAKKKAAHAAKTVKHGAGAEIST VHPEQYAKRFLDFITNIFA hide sequence

RefSeq Acc Id:	NP_001139732 ⟸ NM_001146260
- Peptide Label:	isoform c
- UniProtKB:	B3KWP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASSSVPPATVSAATAGPGPGFGFASKTKKKHFVQQKVKVFRAADPLVGVFLWGVAHSINELSQ VPPPVMLLPDDFKASSKIKVNNHLFHRENLPSHFKFKEYCPQVFRNLRDRFGIDDQDYLYIVKCHGNTLLPQFLGMYRVSVDNEDSYMLVMRNMFSHRLPVHRKYDLKGSLVSREASDKEKVKELPTL KDMDFLNKNQKVYIGEEEKKIFLEKLKRDVEFLVQLKIMDYSLLLGIHDIIRGSEPEEEAPVREDESEVDGDCSLTGPPALVGSYGTSPEGIGGYIHSHRPLGPGEFESFIDVYAIRSAEGAPQKEVY FMGLIDILTQYDAKKKAAHAAKTVKHGAGAEISTVHPEQYAKRFLDFITNIFA hide sequence

RefSeq Acc Id:	XP_005269209 ⟸ XM_005269152
- Peptide Label:	isoform X1
- UniProtKB:	B3KWP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASSSVPPATVSAATAGPGPGFGFASKTKKKHFVQQKVKVFRAADPLVGVFLWGVAHSINELSQ VPPPVMLLPDDFKASSKIKVNNHLFHRENLPSHFKFKEYCPQVFRNLRDRFGIDDQDYLVSLTRNPPSESEGSDGRFLISYDRTLVIKEVSSEDIADMHSNLSNYHQYIVKCHGNTLLPQFLGMYRVS VDNEDSYMLVMRNMFSHRLPVHRKYDLKVKELPTLKDMDFLNKNQKVYIGEEEKKIFLEKLKRDVEFLVQLKIMDYSLLLGIHDIIRGSEPEEEAPVREDESEVDGDCSLTGPPALVGSYGTSPEGIG GYIHSHRPLGPGEFESFIDVYAIRSAEGAPQKEVYFMGLIDILTQYDAKKKAAHAAKTVKHGAGAEISTVHPEQYAKRFLDFITNIFA hide sequence

Protein Domains

PIPK

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TBX8-F1-model_v2	AlphaFold	Q8TBX8	1-421	view protein structure

RGD ID:

6790361

Promoter ID:

HG_KWN:15987

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:

NM_001146258, NM_001146259, NM_001146260, NM_024779

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	56,271,016 - 56,271,516 (+)	MPROMDB

RGD ID:

7224575

Promoter ID:

EPDNEW_H18032

Type:

initiation region

Name:

PIP4K2C_1

Description:

phosphatidylinositol-5-phosphate 4-kinase type 2 gamma

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	57,591,192 - 57,591,252	EPDNEW

Database	Acc Id	Source(s)
COSMIC	PIP4K2C	COSMIC
Ensembl Genes	ENSG00000166908	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000354947	ENTREZGENE
	ENST00000354947.10	UniProtKB/Swiss-Prot
	ENST00000422156	ENTREZGENE
	ENST00000422156.7	UniProtKB/Swiss-Prot
	ENST00000540759	ENTREZGENE
	ENST00000540759.6	UniProtKB/Swiss-Prot
	ENST00000550465	ENTREZGENE
	ENST00000550465.5	UniProtKB/Swiss-Prot
Gene3D-CATH	2-Layer Sandwich	UniProtKB/Swiss-Prot
	3.30.800.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000166908	GTEx
HGNC ID	HGNC:23786	ENTREZGENE
Human Proteome Map	PIP4K2C	Human Proteome Map
InterPro	PInositol-4-P-4/5-kinase_C_sf	UniProtKB/Swiss-Prot
	PInositol-4-P-5-kinase	UniProtKB/Swiss-Prot
	PInositol-4-P-5-kinase_core	UniProtKB/Swiss-Prot
	PInositol-4-P-5-kinase_N	UniProtKB/Swiss-Prot
KEGG Report	hsa:79837	UniProtKB/Swiss-Prot
NCBI Gene	79837	ENTREZGENE
OMIM	617104	OMIM
PANTHER	PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE TYPE-2 GAMMA	UniProtKB/Swiss-Prot
	PTHR23086	UniProtKB/Swiss-Prot
Pfam	PIP5K	UniProtKB/Swiss-Prot
PharmGKB	PA162399665	PharmGKB
PROSITE	PIPK	UniProtKB/Swiss-Prot
SMART	PIPKc	UniProtKB/Swiss-Prot
Superfamily-SCOP	SAICAR synthase-like	UniProtKB/Swiss-Prot
UniProt	B2RDL3	ENTREZGENE
	B3KQV3	ENTREZGENE, UniProtKB/TrEMBL
	B3KWP7	ENTREZGENE, UniProtKB/TrEMBL
	B4DM11	ENTREZGENE
	B4DY44	ENTREZGENE
	E7ERY6	ENTREZGENE
	F8VNT5_HUMAN	UniProtKB/TrEMBL
	F8VU68_HUMAN	UniProtKB/TrEMBL
	F8VVB2_HUMAN	UniProtKB/TrEMBL
	H0YIJ6_HUMAN	UniProtKB/TrEMBL
	PI42C_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q9H6N2	ENTREZGENE
UniProt Secondary	B2RDL3	UniProtKB/Swiss-Prot
	B4DM11	UniProtKB/Swiss-Prot
	B4DY44	UniProtKB/Swiss-Prot
	Q9H6N2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-19	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar