PSKH2

Summary

PSKH2 (protein serine kinase H2, HGNC:18997) is a protein-coding gene on chromosome 8q21.3, encoding Serine/threonine-protein kinase H2 (Q96QS6).

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. Predicted to be active in cytoplasm.

Source: NCBI Gene 85481 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_033126

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18997
Approved symbol	PSKH2
Name	protein serine kinase H2
Location	8q21.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000147613
Ensembl biotype	protein_coding
OMIM	620394
Entrez	85481

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000276616, ENST00000517981, ENST00000523010

RefSeq mRNA: 1 — MANE Select: NM_033126 NM_033126

CCDS: CCDS6240

Canonical transcript exons

ENST00000276616 — 3 exons

Exon	Start	End
ENSE00000980872	86069438	86069668
ENSE00000980873	86063965	86064631
ENSE00000980874	86047109	86048767

Expression profiles

Bgee: expression breadth broad, 17 present calls, max score 84.77.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0885 / max 13.0737, expressed in 34 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93813	0.0885	34

Top tissues by expression

228 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.77	gold quality
epithelium of nasopharynx	UBERON:0001951	64.42	gold quality
buccal mucosa cell	CL:0002336	62.73	gold quality
parotid gland	UBERON:0001831	56.00	gold quality
endothelial cell	CL:0000115	54.18	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	53.49	gold quality
upper leg skin	UBERON:0004262	52.58	silver quality
oocyte	CL:0000023	52.52	gold quality
lateral globus pallidus	UBERON:0002476	51.59	gold quality
postcentral gyrus	UBERON:0002581	51.07	gold quality
seminal vesicle	UBERON:0000998	50.85	gold quality
trabecular bone tissue	UBERON:0002483	50.70	gold quality
parietal lobe	UBERON:0001872	49.39	gold quality
entorhinal cortex	UBERON:0002728	46.75	gold quality
skin of hip	UBERON:0001554	45.99	silver quality
body of tongue	UBERON:0011876	45.78	gold quality
superior frontal gyrus	UBERON:0002661	45.31	gold quality
biceps brachii	UBERON:0001507	45.02	gold quality
adult mammalian kidney	UBERON:0000082	44.91	gold quality
subthalamic nucleus	UBERON:0001906	44.58	gold quality
gingiva	UBERON:0001828	44.17	gold quality
amniotic fluid	UBERON:0000173	43.73	gold quality
pigmented layer of retina	UBERON:0001782	43.62	gold quality
cortex of kidney	UBERON:0001225	43.45	gold quality
kidney	UBERON:0002113	43.38	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
trigeminal ganglion	UBERON:0001675	43.28	gold quality
substantia nigra pars reticulata	UBERON:0001966	43.13	gold quality
deltoid	UBERON:0001476	43.12	gold quality
jejunum	UBERON:0002115	43.04	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.45

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• First description of PSKH2, predicted as a catalytically-active protein kinase homolog of PSKH1. (PMID:12471243)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
caenorhabditis_elegans	R06A10.4	WBGENE00019911

Paralogs (22): CAMKK1 (ENSG00000004660), CAMK1G (ENSG00000008118), CAMK2B (ENSG00000058404), CAMK2A (ENSG00000070808), MYLK2 (ENSG00000101306), CAMKK2 (ENSG00000110931), STK11 (ENSG00000118046), STK33 (ENSG00000130413), PNCK (ENSG00000130822), DCLK1 (ENSG00000133083), CAMK1 (ENSG00000134072), MYLK3 (ENSG00000140795), CAMK2D (ENSG00000145349), MYLK4 (ENSG00000145949), CAMK2G (ENSG00000148660), PHKG2 (ENSG00000156873), PSKH1 (ENSG00000159792), DCLK3 (ENSG00000163673), CAMKV (ENSG00000164076), PHKG1 (ENSG00000164776), DCLK2 (ENSG00000170390), CAMK1D (ENSG00000183049)

Protein

Protein identifiers

Serine/threonine-protein kinase H2 — Q96QS6 (reviewed: Q96QS6)

Alternative names: Protein serine kinase H2

All UniProt accessions (1): Q96QS6

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.

RefSeq proteins (1): NP_149117* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR017441	Protein_kinase_ATP_BS	Binding_site

Pfam: PF00069

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
• L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)

UniProt features (18 total): sequence variant 12, binding site 2, chain 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96QS6-F1	82.75	0.68

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 69–77; 92

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 21 (showing top): GOMF_PROTEIN_KINASE_ACTIVITY, GOMF_KINASE_ACTIVITY, GOMF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY, chr8q21, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, HAND1_TARGET_GENES, MAFG_TARGET_GENES, PAX3_TARGET_GENES, SUPT16H_TARGET_GENES, GSE15659_CD45RA_NEG_CD4_TCELL_VS_RESTING_TREG_DN, GSE15659_CD45RA_NEG_CD4_TCELL_VS_NONSUPPRESSIVE_TCELL_DN, GSE15659_RESTING_TREG_VS_NONSUPPRESSIVE_TCELL_DN, GOMF_PROTEIN_SERINE_KINASE_ACTIVITY, CUX1_TARGET_GENES

GO Biological Process (1): protein phosphorylation (GO:0006468)

GO Molecular Function (8): protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein kinase activity	2
phosphorylation	1
protein modification process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

969 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PSKH2	PAN3	Q58A45	510
PSKH2	NAA11	Q9BSU3	491
PSKH2	PEAK3	Q6ZS72	451
PSKH2	PCNX1	Q96RV3	422
PSKH2	FAM169BP	Q8N8A8	420
PSKH2	LGALS13	Q9UHV8	401
PSKH2	FAM20A	Q96MK3	398
PSKH2	PEAK1	Q9H792	386
PSKH2	ADCK5	Q3MIX3	374
PSKH2	SELENOO	Q9BVL4	372
PSKH2	CSNK1A1L	Q8N752	371
PSKH2	CLVS1	Q8IUQ0	366
PSKH2	INSL4	Q14641	350
PSKH2	A0A2R8Y809	A0A2R8Y809	322
PSKH2	TBCE	Q15813	322
PSKH2	NRBP2	Q9NSY0	322

IntAct

10 interactions, top by confidence:

A	B	Type	Score
PSKH2	HSP90AB1	psi-mi:“MI:0915”(physical association)	0.740
CDC37	PSKH2	psi-mi:“MI:0915”(physical association)	0.740
PSKH2	HSP90AA1	psi-mi:“MI:0915”(physical association)	0.670
PSKH2	UNC119B	psi-mi:“MI:0914”(association)	0.530
	PSKH2	psi-mi:“MI:0915”(physical association)	0.400
PSMD2	PSKH2	psi-mi:“MI:0915”(physical association)	0.400
PSKH2	AIP	psi-mi:“MI:0914”(association)	0.350

BioGRID (89): UNC119 (Affinity Capture-MS), UNC119B (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), HSP90AB1 (Affinity Capture-MS), HSP90AA5P (Affinity Capture-MS), HSP90AA4P (Affinity Capture-MS), FKBP5 (Affinity Capture-MS), CDC37 (Affinity Capture-MS), YTHDF1 (Affinity Capture-MS), RABGGTB (Affinity Capture-MS), PSKH2 (Synthetic Lethality), PSKH2 (Synthetic Lethality), HSP90AA5P (Affinity Capture-MS), HSP90AA4P (Affinity Capture-MS), FKBP5 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I3S724, A4IGM9, D7UQM5, E2RTQ7, O01427, O08875, O14408, O55099, O59790, O70126, P00518, P10665, P18652, P18653, P18654, P31325, P51812, P59241, P97477, Q00771, Q15349, Q16816, Q18846, Q21734, Q4KTY1, Q501V0, Q58D94, Q61XD3, Q63531, Q66JF3, Q6C3J2, Q6CWQ4, Q6DE08, Q6FV07, Q6GPL3, Q6NW76, Q755C4, Q7TPS0, Q7YRC6, Q91819

Diamond homologs: A0A509AFG4, A0A5K1K8H0, A2AAJ9, A2ZVI7, A4IFM7, A8C984, A8WXF6, B9FKW9, C0HKC8, C0HKC9, E9PT87, O02827, O43293, O44997, O54784, O62305, O70150, O75147, O80673, O88764, O94768, P07313, P08414, P11801, P13234, P15735, P18653, P20689, P29294, P31325, P34101, P43292, P53355, P53681, Q00168, Q00771, Q0KHT7, Q0V7M1, Q10KY3, Q14012

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

63 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	59
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

714 predictions. Top by Δscore:

Variant	Effect	Δscore
8:86048763:CAAGG:C	acceptor_gain	0.9900
8:86050108:A:AC	donor_gain	0.9900
8:86050109:C:CC	donor_gain	0.9900
8:86050131:T:TA	donor_gain	0.9900
8:86065188:ACT:A	donor_gain	0.9900
8:86065189:CTC:C	donor_gain	0.9900
8:86048764:AAGG:A	acceptor_gain	0.9800
8:86048765:AGGC:A	acceptor_loss	0.9800
8:86048767:GC:G	acceptor_loss	0.9800
8:86048768:C:CC	acceptor_gain	0.9800
8:86048768:CTGA:C	acceptor_loss	0.9800
8:86048769:T:G	acceptor_loss	0.9800
8:86055637:T:C	donor_gain	0.9800
8:86065188:A:AC	donor_gain	0.9800
8:86065189:C:CC	donor_gain	0.9800
8:86069435:TA:T	donor_loss	0.9800
8:86069437:CCTG:C	donor_loss	0.9800
8:86048765:AGG:A	acceptor_gain	0.9700
8:86048766:GG:G	acceptor_gain	0.9700
8:86064632:C:CC	acceptor_gain	0.9600
8:86069478:C:CT	donor_gain	0.9600
8:86069479:C:CT	donor_gain	0.9600
8:86064629:TAT:T	acceptor_gain	0.9500
8:86064629:TATCT:T	acceptor_loss	0.9500
8:86064630:ATCTG:A	acceptor_loss	0.9500
8:86064631:TC:T	acceptor_loss	0.9500
8:86064632:CTGTT:C	acceptor_loss	0.9500
8:86064633:T:G	acceptor_loss	0.9500
8:86065189:CT:C	donor_gain	0.9500
8:86065191:C:CA	donor_gain	0.9500

AlphaMissense

2521 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:86064031:A:C	F262L	0.952
8:86064031:A:T	F262L	0.952
8:86064033:A:G	F262L	0.952
8:86064081:A:G	W246R	0.952
8:86064081:A:T	W246R	0.952
8:86064079:C:A	W246C	0.930
8:86064079:C:G	W246C	0.930
8:86048665:A:G	W319R	0.921
8:86048665:A:T	W319R	0.921
8:86048698:G:T	R308S	0.916
8:86064550:A:C	F89L	0.914
8:86064550:A:T	F89L	0.914
8:86064552:A:G	F89L	0.914
8:86064087:C:G	D244H	0.908
8:86048764:A:G	W286R	0.904
8:86048764:A:T	W286R	0.904
8:86069458:G:C	F55L	0.895
8:86069458:G:T	F55L	0.895
8:86069460:A:G	F55L	0.895
8:86064309:C:A	G170W	0.893
8:86048738:C:A	K294N	0.891
8:86048738:C:G	K294N	0.891
8:86064086:T:A	D244V	0.888
8:86064071:C:T	G249D	0.887
8:86064086:T:G	D244A	0.884
8:86064202:A:C	F205L	0.884
8:86064202:A:T	F205L	0.884
8:86064204:A:G	F205L	0.884
8:86048663:C:A	W319C	0.868
8:86048663:C:G	W319C	0.868

dbSNP variants (sampled 300 via entrez): RS1000291223 (8:86071399 A>C,G), RS1000317238 (8:86065773 G>A), RS1000500098 (8:86055028 T>A), RS1000691445 (8:86048850 A>G), RS1000854122 (8:86065668 C>A,T), RS1000969644 (8:86063847 G>A), RS1001039912 (8:86055304 C>T), RS1001406798 (8:86068595 C>A,G,T), RS1001549034 (8:86052019 A>G), RS1001559428 (8:86058044 A>G), RS1001761119 (8:86061090 G>A), RS1001911952 (8:86068614 A>G), RS1002000445 (8:86050088 T>C), RS1002065038 (8:86051613 G>T), RS1002121397 (8:86062812 A>G)

Disease associations

OMIM: gene MIM:620394 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST005790_9	Rosacea symptom severity	5.000000e-06
GCST90002398_232	Neutrophil count	6.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009180	rosacea severity measurement
EFO:0004833	neutrophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — PSK family

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation	1
Triclosan	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.