PTPRH

Summary

PTPRH (protein tyrosine phosphatase receptor type H, HGNC:9672) is a protein-coding gene on chromosome 19q13.42, encoding Receptor-type tyrosine-protein phosphatase H (Q9HD43). Protein phosphatase that may contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes.

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 5794 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 255 total
• MANE Select transcript: NM_002842

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9672
Approved symbol	PTPRH
Name	protein tyrosine phosphatase receptor type H
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	SAP-1
Ensembl gene	ENSG00000080031
Ensembl biotype	protein_coding
OMIM	602510
Entrez	5794

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 5 protein_coding_CDS_not_defined

ENST00000263434, ENST00000376350, ENST00000586310, ENST00000586852, ENST00000587662, ENST00000588370, ENST00000588559, ENST00000890315, ENST00000890316, ENST00000890317, ENST00000890318, ENST00000890319, ENST00000890320, ENST00000890321, ENST00000890322, ENST00000890323, ENST00000890324, ENST00000890325

RefSeq mRNA: 2 — MANE Select: NM_002842 NM_001161440, NM_002842

CCDS: CCDS33110, CCDS54321

Canonical transcript exons

ENST00000376350 — 20 exons

Exon	Start	End
ENSE00000417646	55185502	55185662
ENSE00000727964	55182016	55182151
ENSE00000727968	55185862	55185984
ENSE00000727972	55186225	55186359
ENSE00000727976	55186464	55186540
ENSE00000727979	55187513	55187603
ENSE00000727982	55188078	55188168
ENSE00000727986	55191501	55191548
ENSE00000727990	55191663	55191741
ENSE00003482123	55205326	55205592
ENSE00003486449	55197117	55197416
ENSE00003562451	55206689	55206955
ENSE00003590138	55202056	55202322
ENSE00003592003	55196522	55196788
ENSE00003638118	55203782	55204048
ENSE00003660233	55200236	55200502
ENSE00003676792	55207166	55207199
ENSE00003693031	55198643	55198912
ENSE00003842730	55209383	55209501
ENSE00003849493	55181247	55181903

Expression profiles

Bgee: expression breadth ubiquitous, 191 present calls, max score 95.46.

FANTOM5 (CAGE): breadth broad, TPM avg 2.7188 / max 179.6422, expressed in 583 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182747	1.3702	419
182746	0.8161	273
182751	0.2171	63
182749	0.1605	35
182748	0.1280	23
182750	0.0269	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	95.46	gold quality
duodenum	UBERON:0002114	94.57	gold quality
pancreatic ductal cell	CL:0002079	93.90	gold quality
mucosa of transverse colon	UBERON:0004991	93.30	gold quality
adrenal tissue	UBERON:0018303	92.51	gold quality
gall bladder	UBERON:0002110	92.15	gold quality
ileal mucosa	UBERON:0000331	91.08	gold quality
rectum	UBERON:0001052	90.05	gold quality
islet of Langerhans	UBERON:0000006	88.60	gold quality
colonic mucosa	UBERON:0000317	88.33	gold quality
oocyte	CL:0000023	87.12	gold quality
spleen	UBERON:0002106	86.78	gold quality
mucosa of sigmoid colon	UBERON:0004993	86.65	gold quality
small intestine	UBERON:0002108	85.83	gold quality
small intestine Peyer’s patch	UBERON:0003454	85.26	gold quality
left adrenal gland cortex	UBERON:0035825	85.04	gold quality
left adrenal gland	UBERON:0001234	84.84	gold quality
transverse colon	UBERON:0001157	84.45	gold quality
adrenal gland	UBERON:0002369	84.10	gold quality
adrenal cortex	UBERON:0001235	84.08	gold quality
secondary oocyte	CL:0000655	83.83	gold quality
right adrenal gland	UBERON:0001233	83.81	gold quality
right adrenal gland cortex	UBERON:0035827	83.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.29	gold quality
epithelial cell of pancreas	CL:0000083	82.96	silver quality
jejunum	UBERON:0002115	82.54	gold quality
spinal cord	UBERON:0002240	81.16	gold quality
body of stomach	UBERON:0001161	80.83	gold quality
right lobe of liver	UBERON:0001114	80.30	gold quality
intestine	UBERON:0000160	80.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting PTPRH, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-3691-5P	98.62	65.88	552
HSA-MIR-548AO-5P	98.55	69.57	1362
HSA-MIR-548AX	98.55	69.58	1362
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-6747-3P	97.73	64.84	1596
HSA-MIR-342-5P	97.25	64.10	817
HSA-MIR-4486	96.96	60.61	931

Literature-anchored findings (GeneRIF, showing 8)

• SAP-1 induces apoptotic cell death by inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. (PMID:12101188)
• SAP-1 expression is downregulated during the dedifferentiation of human hepatocellular carcinoma, which may play a causal role in disease progression (PMID:12879010)
• PTPRH is overexpressed in non-small cell lung cancer, is regulated by DNA hypomethylation, and PTPRH DNA methylation was an independent prognostic factor (PMID:26134684)
• The results indicate that PTPRH is downregulated in colorectal tumors and its expression is epigenetically regulated via DNA methylation and chromatin modifications. (PMID:28713969)
• The High Expression of PTPRH Is Associated with Poor Prognosis of Human Lung Adenocarcinoma. (PMID:34367321)
• Crystal structure of the catalytic domain of human RPTPH. (PMID:35787553)
• Elevated phosphorylation of EGFR in NSCLC due to mutations in PTPRH. (PMID:36054194)
• PTPRH promotes the progression of non-small cell lung cancer via glycolysis mediated by the PI3K/AKT/mTOR signaling pathway. (PMID:37974250)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ptprh	ENSMUSG00000035429
rattus_norvegicus	Ptprh	ENSRNOG00000058906

Paralogs (35): PTPRN (ENSG00000054356), PTPRU (ENSG00000060656), PTPN3 (ENSG00000070159), PTPN21 (ENSG00000070778), PTPN18 (ENSG00000072135), PTPN23 (ENSG00000076201), PTPRC (ENSG00000081237), PTPN4 (ENSG00000088179), PTPRS (ENSG00000105426), PTPRZ1 (ENSG00000106278), PTPN5 (ENSG00000110786), PTPN6 (ENSG00000111679), PTPRB (ENSG00000127329), PTPN12 (ENSG00000127947), PTPRE (ENSG00000132334), PTPRA (ENSG00000132670), PTPN22 (ENSG00000134242), PTPRF (ENSG00000142949), PTPN7 (ENSG00000143851), PTPRG (ENSG00000144724), PTPRJ (ENSG00000149177), PTPRO (ENSG00000151490), PTPN14 (ENSG00000152104), PTPRK (ENSG00000152894), PTPRR (ENSG00000153233), PTPRD (ENSG00000153707), PTPRN2 (ENSG00000155093), PTPN13 (ENSG00000163629), PTPN9 (ENSG00000169410), PTPRM (ENSG00000173482), PTPN2 (ENSG00000175354), PTPN11 (ENSG00000179295), PTPRT (ENSG00000196090), PTPN1 (ENSG00000196396), PTPN20 (ENSG00000204179)

Protein

Protein identifiers

Receptor-type tyrosine-protein phosphatase H — Q9HD43 (reviewed: Q9HD43)

Alternative names: Stomach cancer-associated protein tyrosine phosphatase 1, Transmembrane-type protein-tyrosine phosphatase type H

All UniProt accessions (1): Q9HD43

UniProt curated annotations — full annotation on UniProt →

Function. Protein phosphatase that may contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes. Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal activity of LCK and its activation in response to TCR stimulation and TCR-induced activation of MAP kinase and surface expression of CD69. Inhibits TCR-induced tyrosine phosphorylation of LAT and ZAP70. Inhibits both basal activity of DOK1 and its CD2-induced tyrosine phosphorylation. Induces dephosphorylation of BCAR1, focal adhesion kinase and SRC. Reduces migratory activity of activity of Jurkat cells. Reduces tyrosine phosphorylation of CEACAM20 and thereby contributes to suppress the intestinal immune response CEACAM20.

Subunit / interactions. Homodimer; disulfide-linked. Interacts with LCK. Interacts (phosphorylated form) with GRB2 (via SH2 domain). Interacts (phosphorylated form) with FYN (via SH2 domain). Interacts (via extracellular domain) with CEACAM20 (via extracellular domain); the interaction dephosphorylates CEACAM20.

Subcellular location. Cell projection. Microvillus membrane. Apical cell membrane. Cytoplasm.

Tissue specificity. Expressed at high levels in the brain, spleen and liver and at lower levels in the heart and stomach. Expressed in pancreatic and colorectal cancer cells, but not in normal pancreas or colon. Expression in hepatocellular carcinoma is related to the differentiation status of the tumor and expression is inversely related to tumor aggressiveness.

Activity regulation. Regulated by reversible dimerization. Dimerization reduces its catalytic activity.

Domain organisation. The extracellular domain mediates homodimerization. One or more cysteines in the extracellular domain is essential for the formation of dimers probably by forming a disulfide bond. The cytoplasmic domain mediates the interaction with LCK.

Induction. Induced at the early stage of hepatocellular carcinoma and is suppressed at later stages.

Similarity. Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9HD43-1	1	yes
Q9HD43-2	2
Q9HD43-3	3

RefSeq proteins (2): NP_001154912, NP_002833* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000242	PTP_cat	Domain
IPR000387	Tyr_Pase_dom	Domain
IPR003595	Tyr_Pase_cat	Domain
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR016130	Tyr_Pase_AS	Active_site
IPR029021	Prot-tyrosine_phosphatase-like	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR050713	RTP_Phos/Ushers	Family

Pfam: PF00041, PF00102

Enzyme classification (BRENDA):

• EC 3.1.3.48 — protein-tyrosine-phosphatase (BRENDA: 59 organisms, 501 substrates, 1326 inhibitors, 270 Km, 165 kcat entries)

Substrate kinetics (BRENDA)

70 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
4-NITROPHENYL PHOSPHATE	0.0008–148	84
6,8-DIFLUORO-4-METHYLUMBELLIFERYL PHOSPHATE	0.0039–0.862	27
P-NITROPHENYL PHOSPHATE	0.0024–10	20
DADEPYLIPQQG	0.0003–0.1	12
PHOSPHOTYROSINE	0.012–30	11
LYSOZYME	0.0003–0.012	5
MYELIN BASIC PROTEIN	0.0001–0.022	5
ACETYL-DADEPY-NH2	0.0228–0.219	4
ACETYL-DADEPYL-NH2	1.1–97.5	4
4,6,8-TRIMETHYL-2-OXO-2H-CHROMEN-7-YL DIHYDROGEN	0.02–0.156	3
SASASPYSASA	0.53–2.3	3
1-NAPHTHYL PHOSPHATE	1.19–1.88	2
3,6-FLUORESCEIN DIPHOSPHATE	15–19	2
4-METHYLUMBELLIFERYL PHOSPHATE	0.953–2.41	2
BOVINE SERUM ALBUMIN	0.0001–0.0003	2

Catalyzed reactions (Rhea), 1 shown:

• O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate (RHEA:10684)

UniProt features (69 total): strand 12, glycosylation site 10, domain 9, helix 9, sequence variant 8, turn 5, sequence conflict 4, modified residue 2, topological domain 2, splice variant 2, mutagenesis site 2, signal peptide 1, chain 1, active site 1, transmembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7XC0	X-RAY DIFFRACTION	1.56

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HD43-F1	84.07	0.53

Functional residue map

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

Catalytic / active sites (1): 1020 (phosphocysteine intermediate)

Post-translational modifications (2): 1094, 1102

Glycosylation sites (10): 35, 83, 172, 256, 285, 350, 434, 468, 556, 642

Mutagenesis-validated functional residues (2):

Position	Phenotype
986	loss of activity. acts as a dominant negative mutant.
1020	loss of activity. no induction of apoptosis.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 87 (showing top): MODULE_64, GOBP_NEUROGENESIS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_DEPHOSPHORYLATION, GOBP_PROTEIN_DEPHOSPHORYLATION, GOBP_CELL_PROJECTION_ORGANIZATION, RGAGGAARY_PU1_Q6, AP1FJ_Q2, GOCC_CELL_PROJECTION_MEMBRANE, GOCC_APICAL_PART_OF_CELL, GOCC_MICROVILLUS, GOCC_MICROVILLUS_MEMBRANE, GOCC_PLASMA_MEMBRANE_REGION, GOCC_ACTIN_BASED_CELL_PROJECTION

GO Biological Process (5): protein dephosphorylation (GO:0006470), apoptotic process (GO:0006915), signal transduction (GO:0007165), axon guidance (GO:0007411), dephosphorylation (GO:0016311)

GO Molecular Function (6): protein tyrosine phosphatase activity (GO:0004725), transmembrane receptor protein tyrosine phosphatase activity (GO:0005001), cadherin binding (GO:0045296), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (9): cytosol (GO:0005829), plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), nuclear speck (GO:0016607), microvillus membrane (GO:0031528), cytoplasm (GO:0005737), microvillus (GO:0005902), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
dephosphorylation	1
protein modification process	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
axonogenesis	1
neuron projection guidance	1
phosphate-containing compound metabolic process	1
phosphoprotein phosphatase activity	1
protein tyrosine phosphatase activity	1
transmembrane receptor protein phosphatase activity	1
cell adhesion molecule binding	1
phosphatase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
cytoplasm	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
nuclear ribonucleoprotein granule	1
microvillus	1
cell projection membrane	1
intracellular anatomical structure	1
actin filament bundle	1
actin-based cell projection	1

Protein interactions and networks

STRING

902 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PTPRH	PTS	Q03393	820
PTPRH	GPATCH2L	Q9NWQ4	458
PTPRH	SSR4	P51571	457
PTPRH	UPK1B	O75841	451
PTPRH	PTGFRN	Q9P2B2	439
PTPRH	FKBP6	O75344	434
PTPRH	ZNF442	Q9H7R0	431
PTPRH	BLTP3B	A0JNW5	431
PTPRH	P2RX1	P51575	430
PTPRH	KLF10	Q13118	407
PTPRH	FKBP10	Q96AY3	372
PTPRH	PTPRA	P18433	365
PTPRH	PPP4R4	Q6NUP7	364
PTPRH	TMEM134	Q9H6X4	360
PTPRH	PTPRB	P23467	344

IntAct

25 interactions, top by confidence:

A	B	Type	Score
PTPRH	GHR	psi-mi:“MI:0407”(direct interaction)	0.650
PTPRH	GHR	psi-mi:“MI:0203”(dephosphorylation reaction)	0.650
PTPRH	GHR	psi-mi:“MI:0915”(physical association)	0.650
DHPS	PTPRH	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	PTPRH	psi-mi:“MI:0915”(physical association)	0.560
	PTPRH	psi-mi:“MI:0915”(physical association)	0.560
PTPRH	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.560
PTPRH		psi-mi:“MI:0915”(physical association)	0.560
PTPRH	DHPS	psi-mi:“MI:0915”(physical association)	0.560
PTPRH	EGFR	psi-mi:“MI:0915”(physical association)	0.510
EGFR	PTPRH	psi-mi:“MI:0915”(physical association)	0.510
ERBB3	PTPRH	psi-mi:“MI:0915”(physical association)	0.370
ERBB4	PTPRH	psi-mi:“MI:0915”(physical association)	0.370
MLH1	PTPRH	psi-mi:“MI:0915”(physical association)	0.370
PTPRH	MCRIP1	psi-mi:“MI:0914”(association)	0.350
PTPRH	PTPRH	psi-mi:“MI:0914”(association)	0.310
spo0J	PTPRH	psi-mi:“MI:0915”(physical association)	0.000
PTPRH	sufD	psi-mi:“MI:0915”(physical association)	0.000
fldB	PTPRH	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A0A6P8HC43, A4QNR3, A5A3E0, A8MQ14, B4DH59, B5DUH6, E9Q0N2, O75290, O95744, O96790, P00738, P0CG38, P0CG39, P19835, P23253, P30205, P48960, P52742, P60883, Q08DG8, Q4A3R3, Q6S8J3, Q80Z71, Q8BZE1, Q8CIZ5, Q8HXZ7, Q8HXZ8, Q8HY00, Q8HY01, Q8HY02, Q8HY03, Q8HY04, Q8HY06, Q8HY10, Q8HY11, Q8HY12, Q8HYC0, Q8RXK2, Q923X1, Q95218

Diamond homologs: A0A6I8TCE0, A1L1L3, A2ALK8, A4IFW2, B0V2N1, B0X4T2, B1AUH1, B2GV87, B2RU80, B3DK56, B9EKR1, E9Q0N2, E9Q612, F1NWE3, G5EC24, G5EGJ9, H2KZM6, O02695, O08617, O13016, O35239, O55082, P06800, P16620, P17706, P18031, P18052, P18433, P20417, P23467, P23468, P23469, P23470, P23471, P26045, P28191, P29074, P29350, P29351, P29352

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
PTPRH	“down-regulates activity”	EGFR	dephosphorylation
PTPRH	down-regulates	INSR	dephosphorylation
PTPRH	“down-regulates activity”	GHR	dephosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	202
Likely benign	30
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3373 predictions. Top by Δscore:

Variant	Effect	Δscore
19:55181903:CCTGG:C	acceptor_loss	1.0000
19:55181904:C:CA	acceptor_loss	1.0000
19:55181904:C:CC	acceptor_gain	1.0000
19:55182010:CCTCA:C	donor_loss	1.0000
19:55182011:CTCAC:C	donor_loss	1.0000
19:55182012:TCA:T	donor_loss	1.0000
19:55182013:CACC:C	donor_loss	1.0000
19:55182014:A:AC	donor_gain	1.0000
19:55182014:ACC:A	donor_loss	1.0000
19:55182015:C:CC	donor_gain	1.0000
19:55182054:T:TA	donor_gain	1.0000
19:55182147:CAGCA:C	acceptor_gain	1.0000
19:55182148:AGCA:A	acceptor_gain	1.0000
19:55182149:GCA:G	acceptor_gain	1.0000
19:55182149:GCAC:G	acceptor_loss	1.0000
19:55182150:CA:C	acceptor_gain	1.0000
19:55182150:CAC:C	acceptor_gain	1.0000
19:55182150:CACTA:C	acceptor_loss	1.0000
19:55182152:C:CC	acceptor_gain	1.0000
19:55182157:C:CT	acceptor_gain	1.0000
19:55182162:C:CT	acceptor_gain	1.0000
19:55182163:A:T	acceptor_gain	1.0000
19:55185526:C:A	donor_gain	1.0000
19:55186462:A:AC	donor_gain	1.0000
19:55186463:C:CC	donor_gain	1.0000
19:55186463:CGGG:C	donor_gain	1.0000
19:55187511:A:AC	donor_gain	1.0000
19:55187512:C:CC	donor_gain	1.0000
19:55187512:CAGGG:C	donor_gain	1.0000
19:55202323:C:CC	acceptor_gain	1.0000

AlphaMissense

7239 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:55185614:A:G	W984R	0.995
19:55185614:A:T	W984R	0.995
19:55186473:G:C	S878R	0.992
19:55186473:G:T	S878R	0.992
19:55186475:T:G	S878R	0.992
19:55186293:A:G	W904R	0.990
19:55186293:A:T	W904R	0.990
19:55185612:C:A	W984C	0.986
19:55185612:C:G	W984C	0.986
19:55185966:A:G	W933R	0.985
19:55185966:A:T	W933R	0.985
19:55182138:G:T	R1026S	0.984
19:55185504:G:C	C1020W	0.984
19:55186336:G:C	F889L	0.984
19:55186336:G:T	F889L	0.984
19:55186338:A:G	F889L	0.984
19:55185506:A:G	C1020R	0.982
19:55185964:C:A	W933C	0.982
19:55185964:C:G	W933C	0.982
19:55185881:C:G	R961P	0.981
19:55186479:A:C	N876K	0.981
19:55186479:A:T	N876K	0.981
19:55182119:G:T	A1032D	0.980
19:55188093:A:C	F820L	0.980
19:55188093:A:T	F820L	0.980
19:55188095:A:G	F820L	0.980
19:55186294:G:C	F903L	0.979
19:55186294:G:T	F903L	0.979
19:55186296:A:G	F903L	0.979
19:55182131:C:T	G1028E	0.977

dbSNP variants (sampled 300 via entrez): RS1000003957 (19:55184666 A>T), RS1000184496 (19:55189231 C>T), RS1000248892 (19:55196877 C>T), RS1000289007 (19:55198150 G>A,C), RS1000385089 (19:55197048 A>C), RS1000391131 (19:55203169 T>C), RS1000398942 (19:55181322 C>T), RS1000518600 (19:55200680 C>A,T), RS1000576466 (19:55195762 G>T), RS1000592042 (19:55204393 A>C,G), RS1000662129 (19:55198499 C>T), RS1000711714 (19:55196108 G>A), RS1000788448 (19:55190558 A>G,T), RS1001355273 (19:55206059 CCA>C), RS1001429704 (19:55196113 C>G,T)

Disease associations

OMIM: gene MIM:602510 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST004607_24	Plateletcrit	5.000000e-10
GCST005752_167	Systemic lupus erythematosus	2.000000e-08
GCST012020_60	Serum metabolite levels	2.000000e-12
GCST90002394_568	Monocyte percentage of white cells	8.000000e-09
GCST90002397_441	Mean spheric corpuscular volume	4.000000e-09
GCST90002397_442	Mean spheric corpuscular volume	5.000000e-12
GCST90002397_443	Mean spheric corpuscular volume	2.000000e-19
GCST90002400_100	Plateletcrit	4.000000e-21
GCST90002400_101	Plateletcrit	8.000000e-11
GCST90002400_99	Plateletcrit	2.000000e-17
GCST90002401_301	Platelet distribution width	8.000000e-11
GCST90002402_575	Platelet count	2.000000e-13
GCST90002402_576	Platelet count	4.000000e-09
GCST90002405_435	Reticulocyte count	1.000000e-10
GCST90002406_538	Reticulocyte fraction of red cells	2.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0007989	monocyte percentage of leukocytes
EFO:0007984	platelet component distribution width
EFO:0004309	platelet count
EFO:0007986	reticulocyte 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: catalytic receptor — Receptor tyrosine phosphatase (RTP) family

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression, affects expression, decreases expression	5
Estradiol	affects cotreatment, decreases expression, increases expression	3
Cyclosporine	increases expression	3
Tretinoin	increases expression	2
aristolochic acid I	increases expression	1
bisphenol A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	decreases methylation	1
K 7174	increases expression	1
abrine	increases expression	1
bisphenol S	decreases expression	1
NSC 689534	affects binding, increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Copper	affects binding, increases expression	1
Doxorubicin	affects response to substance	1
Methapyrilene	decreases methylation	1
N-Nitrosopyrrolidine	increases expression	1
Niclosamide	increases expression	1
Phenobarbital	affects expression	1
Quercetin	increases expression	1
Silicon Dioxide	increases expression	1
Smoke	increases expression	1
Tamoxifen	affects reaction, decreases expression, affects expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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