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 two tandem catalytic domains, and ... See more...

Aliases for PTPRM Gene

Aliases for PTPRM Gene

  • Protein Tyrosine Phosphatase Receptor Type M 2 3 5
  • Receptor-Type Tyrosine-Protein Phosphatase Mu 3 4
  • EC 3.1.3.48 4 50
  • HR-PTPu 2 3
  • PTPRL1 3 4
  • RPTPU 2 3
  • Protein Tyrosine Phosphatase, Receptor Type, Mu Polypeptide 3
  • Protein Tyrosine Phosphatase Mu 3
  • Protein-Tyrosine Phosphatase Mu 4
  • R-PTP-MU 3
  • R-PTP-Mu 4
  • RPTPM 3
  • PTPRM 5

External Ids for PTPRM Gene

Previous HGNC Symbols for PTPRM Gene

  • PTPRL1

Previous GeneCards Identifiers for PTPRM Gene

  • GC18M008568
  • GC18P007632

Summaries for PTPRM Gene

Entrez Gene Summary for PTPRM Gene

  • 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 two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for PTPRM Gene

PTPRM (Protein Tyrosine Phosphatase Receptor Type M) is a Protein Coding gene. Diseases associated with PTPRM include Schizophrenia and Spastic Hemiplegia. Among its related pathways are Adherens junction and PAK Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein tyrosine phosphatase activity. An important paralog of this gene is PTPRT.

UniProtKB/Swiss-Prot Summary for PTPRM Gene

  • Involved in cell-cell adhesion through homophilic interactions. May play a key role in signal transduction and growth control.

Gene Wiki entry for PTPRM Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTPRM Gene

Genomics for PTPRM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTPRM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J007565 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.4 1408 4.4 POLR2A ZIC2 ZBTB10 MXD4 SIN3A KLF9 SMAD4 SAP130 DEAF1 YY1 PTPRM lnc-LAMA1-4
GH18J007460 Promoter/Enhancer 1.2 FANTOM5 Ensembl CraniofacialAtlas 10.6 -106.3 -106280 1.8 EZH2 FOXA2 SMAD4 SAP130 RARA GABPB1 BCL6 SOX5 SCRT1 CBX2 LOC112577592 PTPRM HSALNG0119848 ENSG00000286126 LRRC30
GH18J007753 Promoter/Enhancer 1.1 Ensembl ENCODE 10.4 +188.2 188151 2.1 CEBPA YY1 HOMEZ CTCF KMT2B FOXA2 KDM6A SMAD4 RXRA SAP130 ENSG00000266767 PTPRM piR-50437-292 RAB12
GH18J007605 Enhancer 0.7 Ensembl ENCODE CraniofacialAtlas 15.6 +41.1 41123 4.6 SCRT1 NR2F2 SCRT2 PTPRM lnc-LAMA1-4 piR-59297-291
GH18J007616 Enhancer 0.9 UCNEbase ENCODE 11 +51.4 51364 3.1 ZNF610 RXRA PRDM6 HNF4A RAD21 SP1 POLR2A EZH2 ZSCAN5C PTPRM lnc-LAMA1-4 piR-59297-291 RAB12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTPRM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTPRM

Top Transcription factor binding sites by QIAGEN in the PTPRM gene promoter:
  • C/EBPalpha
  • E47
  • HEN1
  • NF-kappaB
  • NF-kappaB1
  • p53
  • POU2F1
  • POU2F1a
  • RelA
  • RFX1

Genomic Locations for PTPRM Gene

Latest Assembly
chr18:7,566,782-8,406,861
(GRCh38/hg38)
Size:
840,080 bases
Orientation:
Plus strand

Previous Assembly
chr18:7,567,314-8,406,854
(GRCh37/hg19 by Entrez Gene)
Size:
839,541 bases
Orientation:
Plus strand

chr18:7,566,780-8,406,859
(GRCh37/hg19 by Ensembl)
Size:
840,080 bases
Orientation:
Plus strand

Genomic View for PTPRM Gene

Genes around PTPRM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPRM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPRM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPRM Gene

Proteins for PTPRM Gene

  • Protein details for PTPRM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28827-PTPRM_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase mu
    Protein Accession:
    P28827
    Secondary Accessions:
    • A7MBN1
    • D3DUH8
    • J3QL11

    Protein attributes for PTPRM Gene

    Size:
    1452 amino acids
    Molecular mass:
    163682 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PTPRM Gene

    Alternative splice isoforms for PTPRM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRM Gene

Selected DME Specific Peptides for PTPRM Gene

P28827:
  • NYINAAL
  • PIAPPQL
  • EGVVDIYNCV
  • LVEVGRVKC
  • VQTEEQY
  • YIATQGP
  • IAYDHSRV
  • TYNGYWN
  • VVHCSAG
  • EYESFFEG
  • CSIALLPRN
  • NPEGRKE
  • WPDHGVP
  • HGVPYHATGLL
  • RVADLLQHI
  • DFWRMVW
  • HCLNGGGRSG
  • KENDTHCIDF
  • GRTGCFI
  • VLLTRPGEGGTG
  • DRCLPFLI

Post-translational modifications for PTPRM Gene

  • Glycosylation at Asn72, Asn92, Asn131, Asn249, Asn406, Asn414, Asn454, Asn534, Asn544, Asn598, Asn651, and Asn681
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PTPRM_HUMAN (1971)

Domains & Families for PTPRM Gene

Protein Domains for PTPRM Gene

InterPro:
Blocks:
  • Immunoglobulin subtype
  • Fibronectin type III repeat signature
  • Protein tyrosine phosphatase signature
  • MAM domain signature

Suggested Antigen Peptide Sequences for PTPRM Gene

GenScript: Design optimal peptide antigens:
  • PTPRM protein (A7MBN1_HUMAN)
  • Receptor-type tyrosine-protein phosphatase mu (PTPRM_HUMAN)
  • PTPRM protein (Q49AC9_HUMAN)
  • PTPRM protein (Q86V60_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28827

UniProtKB/Swiss-Prot:

PTPRM_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily.
genes like me logo Genes that share domains with PTPRM: view

Function for PTPRM Gene

Molecular function for PTPRM Gene

UniProtKB/Swiss-Prot Function:
Involved in cell-cell adhesion through homophilic interactions. May play a key role in signal transduction and growth control.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence={ECO:0000255|PROSITE-ProRule:PRU10044};.
GENATLAS Biochemistry:
protein tyrosine phosphatase,receptor-type,mu polypeptide

Enzyme Numbers (IUBMB) for PTPRM Gene

Phenotypes From GWAS Catalog for PTPRM Gene

Gene Ontology (GO) - Molecular Function for PTPRM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA,IDA 8393854
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity IDA 10809770
GO:0005515 protein binding IEA,IPI 9531566
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PTPRM: view
genes like me logo Genes that share phenotypes with PTPRM: view

Animal Models for PTPRM Gene

MGI Knock Outs for PTPRM:

Animal Models for research

  • Taconic Biosciences Mouse Models for PTPRM

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPRM

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTPRM Gene

Localization for PTPRM Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRM Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTPRM gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTPRM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16380380
GO:0005886 plasma membrane IDA --
GO:0005887 integral component of plasma membrane NAS 1655529
GO:0005911 cell-cell junction IDA 15491993
GO:0005912 adherens junction IDA 17965016
genes like me logo Genes that share ontologies with PTPRM: view

Pathways & Interactions for PTPRM Gene

PathCards logo

SuperPathways for PTPRM Gene

SuperPathway Contained pathways
1 Adherens junction
2 Cell adhesion molecules
3 PAK Pathway
.36
4 Cell adhesion_Cadherin-mediated cell adhesion
-
5 Nectin adhesion pathway
genes like me logo Genes that share pathways with PTPRM: view

Pathways by source for PTPRM Gene

1 BioSystems pathway for PTPRM Gene
2 KEGG pathways for PTPRM Gene
1 GeneGo (Thomson Reuters) pathway for PTPRM Gene
  • Cell adhesion_Cadherin-mediated cell adhesion
1 Qiagen pathway for PTPRM Gene
  • Epithelial Adherens Junctions

Gene Ontology (GO) - Biological Process for PTPRM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001937 negative regulation of endothelial cell proliferation IMP 18566238
GO:0006470 protein dephosphorylation IEA,IDA 8393854
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IDA 8393854
GO:0007165 signal transduction IDA 15080886
genes like me logo Genes that share ontologies with PTPRM: view

No data available for SIGNOR curated interactions for PTPRM Gene

Drugs & Compounds for PTPRM Gene

(4) Drugs for PTPRM Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1884
Water Approved Pharma 0
Phosphate Experimental Pharma 0
genes like me logo Genes that share compounds with PTPRM: view

Transcripts for PTPRM Gene

mRNA/cDNA for PTPRM Gene

8 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPRM

Alternative Splicing Database (ASD) splice patterns (SP) for PTPRM Gene

No ASD Table

Relevant External Links for PTPRM Gene

GeneLoc Exon Structure for
PTPRM

Expression for PTPRM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTPRM Gene

Protein differential expression in normal tissues from HIPED for PTPRM Gene

This gene is overexpressed in Serum (43.2) and Colon muscle (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTPRM Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTPRM

SOURCE GeneReport for Unigene cluster for PTPRM Gene:

Hs.49774

Evidence on tissue expression from TISSUES for PTPRM Gene

  • Nervous system(4.2)
  • Bone marrow(4)
  • Heart(2.4)
  • Muscle(2.3)
  • Intestine(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with PTPRM: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRM Gene

Orthologs for PTPRM Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PTPRM 29 30
  • 99.57 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PTPRM 30
  • 97 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 92 (a)
OneToMany
-- 30
  • 90 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia PTPRM 29 30
  • 91.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTPRM 29 30
  • 88.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ptprm 29 16 30
  • 88.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ptprm 29
  • 87.66 (n)
Chicken
(Gallus gallus)
Aves PTPRM 30
  • 91 (a)
OneToOne
LOC421049 29
  • 81.82 (n)
Lizard
(Anolis carolinensis)
Reptilia PTPRM 30
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ptprm 29
  • 77.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii PTPRM (2 of 2) 30
  • 95 (a)
OneToMany
PTPRM (1 of 2) 30
  • 41 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Ptp69D 31
  • 34 (a)
CG7180 31
  • 33 (a)
Worm
(Caenorhabditis elegans)
Secernentea F47B3.7 31
  • 36 (a)
Y48G9A.9 31
  • 35 (a)
ZK484.7 31
  • 32 (a)
C55B7.3 31
  • 31 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1390 30
  • 39 (a)
OneToMany
Species where no ortholog for PTPRM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PTPRM Gene

ENSEMBL:
Gene Tree for PTPRM (if available)
TreeFam:
Gene Tree for PTPRM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTPRM: view image
Alliance of Genome Resources:
Additional Orthologs for PTPRM

Paralogs for PTPRM Gene

(35) SIMAP similar genes for PTPRM Gene using alignment to 10 proteins:

  • PTPRM_HUMAN
  • E7EPS8_HUMAN
  • E7EVX9_HUMAN
  • F8WA38_HUMAN
  • J3KRV2_HUMAN
  • J3KT55_HUMAN
  • J3QLI4_HUMAN
  • J3QRB4_HUMAN
  • Q49AC9_HUMAN
  • Q86V60_HUMAN
genes like me logo Genes that share paralogs with PTPRM: view

Variants for PTPRM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTPRM Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs115049981 Benign: not provided 8,069,888(+) G/A
NM_001105244.1(PTPRM):c.1335G>A (p.Thr445=)
SYNONYMOUS
rs148329685 Benign: not provided 7,774,210(+) C/T
NM_001105244.1(PTPRM):c.135C>T (p.Asp45=)
SYNONYMOUS
rs34073660 Benign: not provided 8,143,723(+) G/A
NM_001105244.1(PTPRM):c.2244G>A (p.Ala748=)
SYNONYMOUS
rs34345020 Benign: not provided 7,955,281(+) C/T
NM_001105244.1(PTPRM):c.999C>T (p.Val333=)
SYNONYMOUS
rs35224276 Benign: not provided 7,774,192(+) T/Ap.Ser39Arg
NM_001105244.1(PTPRM):c.117T>A (p.Ser39Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PTPRM Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PTPRM Gene

Variant ID Type Subtype PubMed ID
dgv196e215 CNV deletion 23714750
dgv3319n100 CNV loss 25217958
dgv5838n54 CNV gain 21841781
dgv5839n54 CNV gain+loss 21841781
dgv5840n54 CNV gain 21841781
dgv5841n54 CNV loss 21841781
dgv5842n54 CNV loss 21841781
dgv597e214 CNV loss 21293372
dgv598e214 CNV gain 21293372
dgv971e212 CNV loss 25503493
esv1023039 CNV insertion 17803354
esv23000 CNV loss 19812545
esv2419492 CNV deletion 18987734
esv2451132 CNV deletion 19546169
esv2586739 CNV loss 19546169
esv2647835 CNV deletion 19546169
esv2656232 CNV gain 23635498
esv2656311 CNV loss 23635498
esv2716749 CNV deletion 23290073
esv2716750 CNV deletion 23290073
esv2716752 CNV deletion 23290073
esv2716753 CNV deletion 23290073
esv2716754 CNV deletion 23290073
esv2716755 CNV deletion 23290073
esv275400 CNV gain+loss 21479260
esv2761987 CNV loss 21179565
esv2762810 CNV gain+loss 21179565
esv3307134 CNV mobile element insertion 20981092
esv3389515 CNV insertion 20981092
esv3398437 CNV insertion 20981092
esv3427559 CNV insertion 20981092
esv3555012 CNV deletion 23714750
esv3555016 CNV deletion 23714750
esv3582958 CNV loss 25503493
esv3582963 CNV loss 25503493
esv3641700 CNV loss 21293372
esv3641701 CNV loss 21293372
esv3641703 CNV loss 21293372
esv3641704 CNV loss 21293372
esv3641705 CNV loss 21293372
esv3641713 CNV loss 21293372
esv3893069 CNV loss 25118596
esv6046 CNV gain 19470904
nsv1055995 CNV loss 25217958
nsv1058445 CNV loss 25217958
nsv1062454 CNV loss 25217958
nsv1063350 CNV gain 25217958
nsv1064849 CNV gain 25217958
nsv1117191 CNV tandem duplication 24896259
nsv1131350 CNV deletion 24896259
nsv1138602 CNV deletion 24896259
nsv1139682 CNV duplication 24896259
nsv1141314 CNV duplication 24896259
nsv1148992 CNV duplication 26484159
nsv1152561 CNV insertion 26484159
nsv1160505 CNV duplication 26073780
nsv130934 CNV deletion 16902084
nsv2197 CNV insertion 18451855
nsv2198 CNV insertion 18451855
nsv458017 CNV loss 19166990
nsv458020 CNV loss 19166990
nsv458021 CNV loss 19166990
nsv470406 CNV loss 18288195
nsv470407 CNV loss 18288195
nsv472767 CNV novel sequence insertion 20440878
nsv475820 CNV novel sequence insertion 20440878
nsv475892 CNV novel sequence insertion 20440878
nsv478850 CNV novel sequence insertion 20440878
nsv521059 CNV loss 19592680
nsv525328 CNV loss 19592680
nsv526300 CNV loss 19592680
nsv576399 CNV gain 21841781
nsv576400 CNV loss 21841781
nsv576401 CNV gain 21841781
nsv576402 CNV loss 21841781
nsv576406 CNV loss 21841781
nsv576417 CNV gain 21841781
nsv576419 CNV loss 21841781
nsv576420 CNV loss 21841781
nsv576423 CNV loss 21841781
nsv576424 CNV loss 21841781
nsv576425 CNV loss 21841781
nsv576426 CNV gain 21841781
nsv576427 CNV loss 21841781
nsv576428 CNV loss 21841781
nsv817782 CNV loss 17921354

Variation tolerance for PTPRM Gene

Residual Variation Intolerance Score: 1.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.78; 58.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTPRM Gene

Human Gene Mutation Database (HGMD)
PTPRM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPRM
Leiden Open Variation Database (LOVD)
PTPRM

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPRM Gene

Disorders for PTPRM Gene

MalaCards: The human disease database

(2) MalaCards diseases for PTPRM Gene - From: CVR and COP

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
spastic hemiplegia
  • congenital hemiplegia
- elite association - COSMIC cancer census association via MalaCards
Search PTPRM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PTPRM

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PTPRM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTPRM Gene

Publications for PTPRM Gene

  1. The crystal structure of domain 1 of receptor protein-tyrosine phosphatase mu. (PMID: 9346878) Hoffmann KM … Barford D (The Journal of biological chemistry 1997) 3 4 22
  2. Fine mapping of the human receptor-like protein tyrosine phosphatase gene (PTPRM) to 18p11.2 by fluorescence in situ hybridization. (PMID: 8404049) Suijkerbuijk RF … Geurts van Kessel A (Cytogenetics and cell genetics 1993) 2 3 22
  3. Cloning, expression and chromosomal localization of a new putative receptor-like protein tyrosine phosphatase. (PMID: 1655529) Gebbink MF … Moolenaar WH (FEBS letters 1991) 2 3 4
  4. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PMID: 21546767) Murea M … Freedman BI (American journal of nephrology 2011) 3 40
  5. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 40

Products for PTPRM Gene

Sources for PTPRM Gene