HIPK4 (homeodomain interacting protein kinase 4)

Gene: HIPK4 (homeodomain interacting protein kinase 4) Homo sapiens

Analyze

Symbol:

HIPK4

Name:

homeodomain interacting protein kinase 4

RGD ID:

1316795

HGNC Page

HGNC:19007

Description:

Predicted to enable protein serine/threonine kinase activity and protein tyrosine kinase activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within regulation of signal transduction by p53 class mediator. Predicted to be active in cytoplasm and nucleus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FLJ32818; homeodomain-interacting protein kinase 4; testicular tissue protein Li 87

RGD Orthologs

Alliance Genes

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	19	40,379,271 - 40,390,181 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	40,379,271 - 40,390,181 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	40,885,178 - 40,896,088 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	45,577,018 - 45,587,934 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	45,577,018 - 45,587,934	NCBI
Celera	19	37,684,720 - 37,695,637 (-)	NCBI		Celera
Cytogenetic Map	19	q13.2	NCBI
HuRef	19	37,320,650 - 37,331,675 (-)	NCBI		HuRef
CHM1_1	19	40,884,875 - 40,895,766 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	43,199,897 - 43,210,807 (-)	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

Carpenter Syndrome 2 (IAGP)

congenital hypoplastic anemia (IAGP)

craniosynostosis (IAGP)

Diamond-Blackfan anemia (IAGP)

genetic disease (IAGP)

maple syrup urine disease (IAGP)

maturity-onset diabetes of the young type 1 (IAGP)

prostate cancer (IAGP)

type 2 diabetes mellitus (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

6-propyl-2-thiouracil (ISO)

aldehydo-D-glucose (ISO)

amitrole (ISO)

arsane (EXP)

arsenic atom (EXP)

bisphenol A (ISO)

butanal (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

CGP 52608 (EXP)

chlorpyrifos (ISO)

D-glucose (ISO)

daidzein (EXP)

daidzein 7-O-beta-D-glucoside (EXP)

ethanol (ISO)

fructose (ISO)

genistein (EXP)

genistein 7-O-beta-D-glucoside (EXP)

gentamycin (ISO)

glucose (ISO)

glycitein (EXP)

glycitin (EXP)

herbicide (ISO)

Licochalcone B (EXP)

methimazole (ISO)

paracetamol (ISO)

phenobarbital (ISO)

silicon dioxide (EXP)

sodium arsenite (ISO)

triclosan (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chromatin remodeling (IEA)

regulation of signal transduction by p53 class mediator (IEA,ISO)

Cellular Component

cytoplasm (IBA,IEA)

nucleus (IBA,IEA)

Molecular Function

ATP binding (IEA)

DNA binding (IEA)

histone kinase activity (IEA)

kinase activity (IEA)

nucleotide binding (IEA)

protein binding (IPI)

protein kinase activity (IEA)

protein serine kinase activity (IEA)

protein serine/threonine kinase activity (IBA,IEA)

protein tyrosine kinase activity (IBA,IEA)

transferase activity (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Congenital hypoplastic anemia (IAGP)

Prostate cancer (IAGP)

Type II diabetes mellitus (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:12477932	PMID:14702039	PMID:15489334	PMID:18022393	PMID:20508833	PMID:21516116	PMID:21873635	PMID:22939624	PMID:23602568	PMID:24225127	PMID:25416956	PMID:25630557
PMID:28966120	PMID:32707033	PMID:35931115	PMID:36931259

Genomics

Comparative Map Data

HIPK4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	40,379,271 - 40,390,181 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	40,379,271 - 40,390,181 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	40,885,178 - 40,896,088 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	45,577,018 - 45,587,934 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	45,577,018 - 45,587,934	NCBI
Celera	19	37,684,720 - 37,695,637 (-)	NCBI		Celera
Cytogenetic Map	19	q13.2	NCBI
HuRef	19	37,320,650 - 37,331,675 (-)	NCBI		HuRef
CHM1_1	19	40,884,875 - 40,895,766 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	43,199,897 - 43,210,807 (-)	NCBI		T2T-CHM13v2.0

Hipk4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	27,222,686 - 27,230,605 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	27,222,692 - 27,230,600 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	27,523,261 - 27,531,180 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	27,523,267 - 27,531,175 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	28,308,280 - 28,316,194 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	27,235,819 - 27,239,932 (+)	NCBI		MGSCv36	mm8
Celera	7	22,105,713 - 22,113,627 (+)	NCBI		Celera
Cytogenetic Map	7	A3	NCBI
cM Map	7	15.92	NCBI

Hipk4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	91,938,308 - 91,948,680 (+)	NCBI		GRCr8
mRatBN7.2	1	82,810,708 - 82,821,080 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	82,810,708 - 82,821,077 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	88,213,590 - 88,223,723 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	96,700,799 - 96,711,024 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	89,969,453 - 89,979,586 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	84,328,114 - 84,338,486 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	84,328,114 - 84,338,483 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	85,544,935 - 85,555,307 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	82,601,693 - 82,612,048 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	82,679,800 - 82,690,156 (+)	NCBI
Celera	1	77,225,371 - 77,233,912 (+)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Hipk4
(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_004955578	876,030 - 884,098 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955578	876,022 - 884,098 (+)	NCBI	ChiLan1.0	ChiLan1.0

HIPK4
(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	20	46,641,141 - 46,653,818 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	48,512,745 - 48,524,468 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	37,427,496 - 37,439,259 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	45,940,130 - 45,950,032 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

HIPK4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	113,297,079 - 113,304,399 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	113,297,258 - 113,304,101 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	112,699,056 - 112,706,341 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	113,895,477 - 113,902,762 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	113,895,619 - 113,902,464 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	113,454,740 - 113,462,021 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	113,087,236 - 113,094,521 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	114,081,231 - 114,088,517 (+)	NCBI		UU_Cfam_GSD_1.0

Hipk4
(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_024409349	14,336,589 - 14,342,039 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936661	2,764,661 - 2,770,110 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936661	2,764,661 - 2,770,110 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HIPK4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	48,666,728 - 48,674,346 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	48,666,726 - 48,672,977 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	44,413,581 - 44,419,494 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HIPK4
(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	6	34,834,526 - 34,848,751 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	34,835,059 - 34,848,138 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	12,930,020 - 12,944,332 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hipk4
(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_004624925	383,124 - 389,900 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624925	382,368 - 391,039 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in HIPK4
29 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	copy number gain	See cases [RCV000050636]	Chr19:37319377..42738688 [GRCh38] Chr19:37810279..43242840 [GRCh37] Chr19:42502119..47934680 [NCBI36] Chr19:19q13.12-13.2	pathogenic
NM_181882.2(PRX):c.4248C>T (p.Ser1416=)	single nucleotide variant	Malignant melanoma [RCV000072148]	Chr19:40394104 [GRCh38] Chr19:40900011 [GRCh37] Chr19:45591851 [NCBI36] Chr19:19q13.2	not provided
NM_144685.5(HIPK4):c.1279G>A (p.Asp427Asn)	single nucleotide variant	Malignant tumor of prostate [RCV000149343]	Chr19:40380712 [GRCh38] Chr19:40886619 [GRCh37] Chr19:19q13.2	uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	copy number gain	See cases [RCV000239839]	Chr19:37582250..41630908 [GRCh37] Chr19:19q13.12-13.2	pathogenic
GRCh37/hg19 19q13.2(chr19:40636400-41060616)x3	copy number gain	not provided [RCV000752683]	Chr19:40636400..41060616 [GRCh37] Chr19:19q13.2	benign
NM_144685.5(HIPK4):c.123C>G (p.Ile41Met)	single nucleotide variant	Inborn genetic diseases [RCV003259716]	Chr19:40389780 [GRCh38] Chr19:40895687 [GRCh37] Chr19:19q13.2	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_144685.5(HIPK4):c.911C>T (p.Thr304Ile)	single nucleotide variant	not provided [RCV000881666]	Chr19:40381080 [GRCh38] Chr19:40886987 [GRCh37] Chr19:19q13.2	benign
NM_144685.5(HIPK4):c.1218T>G (p.Ser406Arg)	single nucleotide variant	not provided [RCV000959273]	Chr19:40380773 [GRCh38] Chr19:40886680 [GRCh37] Chr19:19q13.2	benign
NM_144685.5(HIPK4):c.1032C>T (p.His344=)	single nucleotide variant	not provided [RCV000963706]	Chr19:40380959 [GRCh38] Chr19:40886866 [GRCh37] Chr19:19q13.2	benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
NM_144685.5(HIPK4):c.1069G>A (p.Glu357Lys)	single nucleotide variant	Inborn genetic diseases [RCV003248389]	Chr19:40380922 [GRCh38] Chr19:40886829 [GRCh37] Chr19:19q13.2	uncertain significance
NC_000019.9:g.(?_39904727)_(42931301_?)dup	duplication	Diamond-Blackfan anemia [RCV003122291]\|MEGF8-related Carpenter syndrome [RCV003105286]\|Maple syrup urine disease [RCV003105287]\|TWIST1-related craniosynostosis [RCV003105285]	Chr19:39904727..42931301 [GRCh37] Chr19:19q13.2	uncertain significance
NC_000019.9:g.(?_39205089)_(40913839_?)dup	duplication	Type 2 diabetes mellitus [RCV003107444]\|not provided [RCV003122562]	Chr19:39205089..40913839 [GRCh37] Chr19:19q13.2	uncertain significance\|no classifications from unflagged records
NM_144685.5(HIPK4):c.1261G>A (p.Gly421Ser)	single nucleotide variant	not provided [RCV000966071]	Chr19:40380730 [GRCh38] Chr19:40886637 [GRCh37] Chr19:19q13.2	benign
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	copy number gain	Specific learning disability [RCV001801194]	Chr19:19546923..41313229 [GRCh37] Chr19:19p13.11-q13.2	pathogenic
NC_000019.9:g.(?_40882496)_(41135455_?)dup	duplication	not provided [RCV003116579]	Chr19:40882496..41135455 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.1042T>A (p.Ser348Thr)	single nucleotide variant	Inborn genetic diseases [RCV002689994]	Chr19:40380949 [GRCh38] Chr19:40886856 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.1288G>C (p.Asp430His)	single nucleotide variant	Inborn genetic diseases [RCV002945571]	Chr19:40380703 [GRCh38] Chr19:40886610 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.1225G>A (p.Gly409Ser)	single nucleotide variant	Inborn genetic diseases [RCV002688582]	Chr19:40380766 [GRCh38] Chr19:40886673 [GRCh37] Chr19:19q13.2	likely benign
NM_144685.5(HIPK4):c.376C>T (p.Arg126Trp)	single nucleotide variant	Inborn genetic diseases [RCV002737292]	Chr19:40389527 [GRCh38] Chr19:40895434 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.1588G>A (p.Gly530Arg)	single nucleotide variant	Inborn genetic diseases [RCV002691601]	Chr19:40380403 [GRCh38] Chr19:40886310 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.1442G>A (p.Arg481His)	single nucleotide variant	Inborn genetic diseases [RCV002692068]	Chr19:40380549 [GRCh38] Chr19:40886456 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.1100G>A (p.Arg367His)	single nucleotide variant	Inborn genetic diseases [RCV002887199]	Chr19:40380891 [GRCh38] Chr19:40886798 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.814G>A (p.Glu272Lys)	single nucleotide variant	Inborn genetic diseases [RCV002845930]	Chr19:40383791 [GRCh38] Chr19:40889698 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.922C>T (p.Arg308Trp)	single nucleotide variant	Inborn genetic diseases [RCV002980856]	Chr19:40381069 [GRCh38] Chr19:40886976 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.103G>A (p.Glu35Lys)	single nucleotide variant	Inborn genetic diseases [RCV002664907]	Chr19:40389800 [GRCh38] Chr19:40895707 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.193C>G (p.Leu65Val)	single nucleotide variant	Inborn genetic diseases [RCV002743151]	Chr19:40389710 [GRCh38] Chr19:40895617 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.899C>A (p.Ala300Asp)	single nucleotide variant	Inborn genetic diseases [RCV003003447]	Chr19:40381092 [GRCh38] Chr19:40886999 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.1195A>G (p.Lys399Glu)	single nucleotide variant	Inborn genetic diseases [RCV002792882]	Chr19:40380796 [GRCh38] Chr19:40886703 [GRCh37] Chr19:19q13.2	likely benign
NM_144685.5(HIPK4):c.1747G>A (p.Val583Ile)	single nucleotide variant	Inborn genetic diseases [RCV002959649]	Chr19:40379691 [GRCh38] Chr19:40885598 [GRCh37] Chr19:19q13.2	likely benign
NM_144685.5(HIPK4):c.1534C>A (p.Pro512Thr)	single nucleotide variant	Inborn genetic diseases [RCV002714552]	Chr19:40380457 [GRCh38] Chr19:40886364 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.152T>A (p.Ile51Asn)	single nucleotide variant	Inborn genetic diseases [RCV002944655]	Chr19:40389751 [GRCh38] Chr19:40895658 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.674G>A (p.Arg225His)	single nucleotide variant	Inborn genetic diseases [RCV002678076]	Chr19:40383931 [GRCh38] Chr19:40889838 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.149G>T (p.Arg50Leu)	single nucleotide variant	Inborn genetic diseases [RCV003214296]	Chr19:40389754 [GRCh38] Chr19:40895661 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.1343A>G (p.Asn448Ser)	single nucleotide variant	Inborn genetic diseases [RCV003345549]	Chr19:40380648 [GRCh38] Chr19:40886555 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.1607T>G (p.Leu536Arg)	single nucleotide variant	Inborn genetic diseases [RCV003364282]	Chr19:40380384 [GRCh38] Chr19:40886291 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.1657A>G (p.Met553Val)	single nucleotide variant	Inborn genetic diseases [RCV003376622]	Chr19:40380334 [GRCh38] Chr19:40886241 [GRCh37] Chr19:19q13.2	uncertain significance
NM_144685.5(HIPK4):c.818C>T (p.Thr273Met)	single nucleotide variant	Inborn genetic diseases [RCV003366060]	Chr19:40383787 [GRCh38] Chr19:40889694 [GRCh37] Chr19:19q13.2	uncertain significance
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	copy number gain	not specified [RCV003986115]	Chr19:28271146..41508851 [GRCh37] Chr19:19q11-13.2	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	318
Count of miRNA genes:	271
Interacting mature miRNAs:	295
Transcripts:	ENST00000291823
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.

Markers in Region

WI-22529

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	40,887,265 - 40,887,495	UniSTS	GRCh37
Build 36	19	45,579,105 - 45,579,335	RGD	NCBI36
Celera	19	37,686,807 - 37,687,037	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	37,322,737 - 37,322,967	UniSTS
GeneMap99-GB4 RH Map	19	237.18	UniSTS
Whitehead-RH Map	19	313.6	UniSTS
NCBI RH Map	19	420.3	UniSTS

RH93208

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	40,887,355 - 40,887,495	UniSTS	GRCh37
Build 36	19	45,579,195 - 45,579,335	RGD	NCBI36
Celera	19	37,686,897 - 37,687,037	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	37,322,827 - 37,322,967	UniSTS
GeneMap99-GB4 RH Map	19	235.07	UniSTS

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	19	q13.2	UniSTS
GeneMap99-GB4 RH Map	19	238.63	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

484

345

Low

1471

1248

122

2484

1456

2314

543

415

397

1915

Below cutoff

890

1636

1514

527

1365

378

1840

723

887

354

543

1134

159

806

873

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_051224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_144685	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006723036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC010271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057380	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301713	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302301	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034501	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ891383	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC007020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC044799	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005400	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY004337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000291823 ⟹ ENSP00000291823

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	40,379,271 - 40,390,181 (-)	Ensembl

RefSeq Acc Id:

NM_144685 ⟹ NP_653286

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	40,379,271 - 40,390,181 (-)	NCBI
GRCh37	19	40,885,178 - 40,896,094 (-)	RGD
Build 36	19	45,577,018 - 45,587,934 (-)	NCBI Archive
Celera	19	37,684,720 - 37,695,637 (-)	RGD
HuRef	19	37,320,650 - 37,331,675 (-)	RGD
CHM1_1	19	40,884,875 - 40,895,800 (-)	NCBI
T2T-CHM13v2.0	19	43,199,897 - 43,210,807 (-)	NCBI

Sequence:

show sequence

ACTCAACAGCGCTGGAACCCATTCGGTGGGGCCTGGGGCCCCTCATCCCAAGCCAGGAGGGTTT
CTGGGGAGGGGTGCAGCCCCTGGCAGACTGACAGTGTGGCCTGGGGGTTTGGGGGTGCCAGGGA
AGCAGGGGCCAACCTCATAGGAGGAGACACGAGTGCGGTTCTCTTTCCCCCACTGGGGGGCCTG
CTGTGTCAGCAGCCAGGCGGGAGGCCTGGGCGGCAGAGCCAGTGGTACAGGGGCCTGGGCAGGG
CGGTGTCTGGCAGCAGCGGCACCATGTCCACCATCCAGTCGGAGACTGACTGCTACGACATCAT
CGAGGTCTTGGGCAAGGGGACCTTCGGGGAGGTAGCCAAGGGCTGGCGGCGGAGCACGGGCGAG
ATGGTGGCCATCAAGATCCTCAAGAATGACGCCTACCGCAACCGCATCATCAAGAACGAGCTGA
AGCTGCTGCACTGCATGCGAGGCCTAGACCCTGAAGAGGCCCACGTCATCCGCTTCCTTGAGTT
CTTCCATGACGCCCTCAAGTTCTACCTGGTCTTTGAGCTGCTGGAGCAAAACCTTTTCGAGTTC
CAGAAGGAGAACAACTTCGCGCCCCTCCCCGCCCGCCACATCCGTACAGTCACCCTGCAGGTGC
TCACAGCCCTGGCCCGGCTCAAGGAGCTGGCTATCATCCACGCTGATCTCAAGCCTGAGAACAT
CATGCTGGTGGACCAGACCCGCTGCCCCTTCAGGGTCAAGGTGATTGACTTCGGATCCGCCAGC
ATTTTCAGCGAGGTGCGCTACGTGAAGGAGCCATACATCCAGTCGCGCTTCTACCGGGCCCCTG
AGATCCTGCTGGGGCTGCCCTTCTGCGAGAAGGTGGACGTGTGGTCCCTGGGCTGCGTCATGGC
TGAGCTGCACCTGGGCTGGCCTCTCTACCCCGGCAACAACGAGTACGACCAGGTGCGCTACATC
TGCGAAACCCAGGGCCTGCCCAAGCCACACCTGTTGCACGCCGCCTGCAAGGCCCACCACTTCT
TCAAGCGCAACCCCCACCCTGACGCTGCCAACCCCTGGCAGCTCAAGTCCTCGGCTGACTACCT
GGCCGAGACGAAGGTGCGCCCATTGGAGCGCCGCAAGTATATGCTCAAGTCGTTGGACCAGATT
GAGACAGTGAATGGTGGCAGTGTGGCCAGTCGGCTAACCTTCCCTGACCGGGAGGCGCTGGCGG
AGCACGCCGACCTCAAGAGCATGGTGGAGCTGATCAAGCGCATGCTGACCTGGGAGTCACACGA
ACGCATCAGCCCCAGTGCTGCCCTGCGCCACCCCTTCGTGTCCATGCAGCAGCTGCGCAGTGCC
CACGAGACCACCCACTACTACCAGCTCTCGCTGCGCAGCTACCGCCTCTCGCTGCAAGTGGAGG
GGAAGCCCCCCACGCCCGTCGTGGCCGCAGAAGATGGGACCCCCTACTACTGTCTGGCTGAGGA
GAAGGAGGCTGCGGGTATGGGCAGTGTGGCCGGCAGCAGCCCCTTCTTCCGAGAGGAGAAGGCA
CCAGGTATGCAAAGAGCCATCGACCAGCTGGATGACCTGAGTCTGCAGGAGGCTGGGCATGGGC
TGTGGGGTGAGACCTGCACCAATGCGGTCTCCGACATGATGGTCCCCCTCAAGGCAGCCATCAC
TGGCCACCATGTGCCCGACTCGGGCCCTGAGCCCATCCTGGCCTTCTACAGCAGCCGCCTGGCA
GGCCGCCACAAGGCCCGCAAGCCACCTGCGGGTTCCAAGTCCGACTCCAACTTCAGCAACCTCA
TTCGGCTGAGCCAGGTCTCGCCTGAGGATGACAGGCCCTGCCGGGGCAGCAGCTGGGAGGAAGG
AGAGCATCTCGGGGCCTCTGCTGAGCCACTGGCCATCCTGCAGCGAGATGAGGATGGGCCCAAC
ATTGACAACATGACCATGGAAGCTGAGAGGCCAGACCCTGAGCTCTTCGACCCCAGCAGCTGTC
CTGGAGAATGGCTGAGTGAGCCAGACTGCACCCTGGAGAGCGTCAGGGGCCCACGGGCTCAGGG
GCTCCCACCCCGCCGCTCCCACCAGCATGGTCCACCCCGGGGGGCCACCAGCTTCCTCCAGCAT
GTCACCGGGCACCACTGATGGTGATTCCACCCCTGCCCATCACTGGGGGCTGCGCTAGCTGGGC
TGGCATTCCCTCCCAACCTGAACTGCTCCTCAGAGCCATCTCCTGAACCCACAAATTATTCTTA
CAGAAAGATAGTTATCCAGAAATTCTCATTCCCCGTCTGCGGTGCGGTGCGTGCCTGCACACCT
CTCCTAAACACAGCAGGGCTTTGGAGTCTGGCCCATGCTCCTTGGCCAGAAGGACAGCAGGAAA
GGGGGCTGCACCCCGCTGGCCCTGCGCTCGCCCTTGGCCCTGCTGCCTCTGTCTATTTCAATAT
AGAACTGTTCAGCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_653286	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH34501	(Get FASTA)	NCBI Sequence Viewer
	AEE60998	(Get FASTA)	NCBI Sequence Viewer
	BAB71458	(Get FASTA)	NCBI Sequence Viewer
	BAF84917	(Get FASTA)	NCBI Sequence Viewer
	BAG63184	(Get FASTA)	NCBI Sequence Viewer
	BAG63641	(Get FASTA)	NCBI Sequence Viewer
	CAH68679	(Get FASTA)	NCBI Sequence Viewer
	CBH19315	(Get FASTA)	NCBI Sequence Viewer
	CBH30729	(Get FASTA)	NCBI Sequence Viewer
	EAW56960	(Get FASTA)	NCBI Sequence Viewer
	EAW56961	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000291823
	ENSP00000291823.1
GenBank Protein	Q8NE63	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_653286 ⟸ NM_144685

- UniProtKB:

A8K863 (UniProtKB/Swiss-Prot), Q96M54 (UniProtKB/Swiss-Prot), Q8NE63 (UniProtKB/Swiss-Prot), A0A140VJL1 (UniProtKB/TrEMBL), B4DWX2 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSTIQSETDCYDIIEVLGKGTFGEVAKGWRRSTGEMVAIKILKNDAYRNRIIKNELKLLHCMRG
LDPEEAHVIRFLEFFHDALKFYLVFELLEQNLFEFQKENNFAPLPARHIRTVTLQVLTALARLK
ELAIIHADLKPENIMLVDQTRCPFRVKVIDFGSASIFSEVRYVKEPYIQSRFYRAPEILLGLPF
CEKVDVWSLGCVMAELHLGWPLYPGNNEYDQVRYICETQGLPKPHLLHAACKAHHFFKRNPHPD
AANPWQLKSSADYLAETKVRPLERRKYMLKSLDQIETVNGGSVASRLTFPDREALAEHADLKSM
VELIKRMLTWESHERISPSAALRHPFVSMQQLRSAHETTHYYQLSLRSYRLSLQVEGKPPTPVV
AAEDGTPYYCLAEEKEAAGMGSVAGSSPFFREEKAPGMQRAIDQLDDLSLQEAGHGLWGETCTN
AVSDMMVPLKAAITGHHVPDSGPEPILAFYSSRLAGRHKARKPPAGSKSDSNFSNLIRLSQVSP
EDDRPCRGSSWEEGEHLGASAEPLAILQRDEDGPNIDNMTMEAERPDPELFDPSSCPGEWLSEP
DCTLESVRGPRAQGLPPRRSHQHGPPRGATSFLQHVTGHH

hide sequence

RefSeq Acc Id:

ENSP00000291823 ⟸ ENST00000291823

Protein Domains

Protein kinase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NE63-F1-model_v2	AlphaFold	Q8NE63	1-616	view protein structure

Promoters

RGD ID:

7239963

Promoter ID:

EPDNEW_H25727

Type:

initiation region

Name:

HIPK4_1

Description:

homeodomain interacting protein kinase 4

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	19	40,390,181 - 40,390,241	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:19007	AgrOrtholog
COSMIC	HIPK4	COSMIC
Ensembl Genes	ENSG00000160396	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000291823	ENTREZGENE
	ENST00000291823.3	UniProtKB/Swiss-Prot
Gene3D-CATH	Transferase(Phosphotransferase) domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000160396	GTEx
HGNC ID	HGNC:19007	ENTREZGENE
Human Proteome Map	HIPK4	Human Proteome Map
InterPro	Kinase-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Prot_kinase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Protein_kinase_ATP_BS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ser/Thr_kinase_AS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:147746	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	147746	ENTREZGENE
OMIM	611712	OMIM
PANTHER	DUAL SPECIFICITY PROTEIN KINASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HOMEODOMAIN-INTERACTING PROTEIN KINASE 4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Pkinase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134883524	PharmGKB
PROSITE	PROTEIN_KINASE_ATP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_DOM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_ST	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	S_TKc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF56112	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A140VJL1	ENTREZGENE, UniProtKB/TrEMBL
	A8K863	ENTREZGENE
	B4DWX2	ENTREZGENE, UniProtKB/TrEMBL
	HIPK4_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q96M54	ENTREZGENE
UniProt Secondary	A8K863	UniProtKB/Swiss-Prot
	Q96M54	UniProtKB/Swiss-Prot

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

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

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

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

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Imported Human Phenotype Annotations - ClinVar

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