PTPRS (protein tyrosine phosphatase receptor type S)

Gene

• Entrez ID: 5802
• Gene name: Protein tyrosine phosphatase receptor type S
• Gene symbol: PTPRS
• Synonyms (NCBI Gene): PTP-sigma, PTPSIGMA, R-PTP-S, R-PTP-sigma
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: 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 tran

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140472977	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050574	hsa-miR-20a-5p	CLASH	23622248
MIRT439861	hsa-miR-539-3p	HITS-CLIP	24374217
MIRT439859	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT439858	hsa-miR-381-3p	HITS-CLIP	24374217
MIRT439857	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT439861	hsa-miR-539-3p	HITS-CLIP	24374217
MIRT439859	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT439858	hsa-miR-381-3p	HITS-CLIP	24374217
MIRT439857	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT1276463	hsa-miR-203	CLIP-seq
MIRT1276464	hsa-miR-3136-5p	CLIP-seq
MIRT1276465	hsa-miR-4439	CLIP-seq
MIRT1276466	hsa-miR-488	CLIP-seq
MIRT1276467	hsa-miR-582-5p	CLIP-seq
MIRT1276468	hsa-miR-616	CLIP-seq
MIRT1276469	hsa-miR-924	CLIP-seq
MIRT1276470	hsa-miR-935	CLIP-seq
MIRT1276471	hsa-miR-943	CLIP-seq
MIRT2081306	hsa-miR-3180	CLIP-seq
MIRT2081307	hsa-miR-3180-3p	CLIP-seq
MIRT2081308	hsa-miR-3196	CLIP-seq
MIRT2081309	hsa-miR-377	CLIP-seq
MIRT2081310	hsa-miR-4693-3p	CLIP-seq
MIRT2081311	hsa-miR-4731-5p	CLIP-seq
MIRT1276467	hsa-miR-582-5p	CLIP-seq
MIRT1276470	hsa-miR-935	CLIP-seq
MIRT2307287	hsa-miR-3673	CLIP-seq
MIRT2604791	hsa-miR-1178	CLIP-seq
MIRT2604792	hsa-miR-125a-5p	CLIP-seq
MIRT2604793	hsa-miR-125b	CLIP-seq
MIRT2604794	hsa-miR-1266	CLIP-seq
MIRT2604795	hsa-miR-1275	CLIP-seq
MIRT2604796	hsa-miR-190	CLIP-seq
MIRT2604797	hsa-miR-190b	CLIP-seq
MIRT2604798	hsa-miR-1915	CLIP-seq
MIRT2604799	hsa-miR-2115	CLIP-seq
MIRT2604800	hsa-miR-2861	CLIP-seq
MIRT2604801	hsa-miR-299-3p	CLIP-seq
MIRT2604802	hsa-miR-3120-3p	CLIP-seq
MIRT2604803	hsa-miR-3120-5p	CLIP-seq
MIRT2604804	hsa-miR-3125	CLIP-seq
MIRT2604805	hsa-miR-3132	CLIP-seq
MIRT2604806	hsa-miR-3148	CLIP-seq
MIRT2604807	hsa-miR-3151	CLIP-seq
MIRT2604808	hsa-miR-3153	CLIP-seq
MIRT2604809	hsa-miR-3155	CLIP-seq
MIRT2604810	hsa-miR-3155b	CLIP-seq
MIRT2604811	hsa-miR-3163	CLIP-seq
MIRT2604812	hsa-miR-3175	CLIP-seq
MIRT2081306	hsa-miR-3180	CLIP-seq
MIRT2081307	hsa-miR-3180-3p	CLIP-seq
MIRT2604813	hsa-miR-3182	CLIP-seq
MIRT2604814	hsa-miR-3183	CLIP-seq
MIRT2604815	hsa-miR-3185	CLIP-seq
MIRT2604816	hsa-miR-3189-3p	CLIP-seq
MIRT2604817	hsa-miR-3189-5p	CLIP-seq
MIRT2081308	hsa-miR-3196	CLIP-seq
MIRT2604818	hsa-miR-340	CLIP-seq
MIRT2604819	hsa-miR-361-3p	CLIP-seq
MIRT2604820	hsa-miR-3646	CLIP-seq
MIRT2604821	hsa-miR-3647-3p	CLIP-seq
MIRT2604822	hsa-miR-3662	CLIP-seq
MIRT2604823	hsa-miR-3916	CLIP-seq
MIRT2604824	hsa-miR-3928	CLIP-seq
MIRT2604825	hsa-miR-4252	CLIP-seq
MIRT2604826	hsa-miR-4257	CLIP-seq
MIRT2604827	hsa-miR-4279	CLIP-seq
MIRT2604828	hsa-miR-4282	CLIP-seq
MIRT2604829	hsa-miR-4319	CLIP-seq
MIRT2604830	hsa-miR-4330	CLIP-seq
MIRT2604831	hsa-miR-4447	CLIP-seq
MIRT2604832	hsa-miR-4451	CLIP-seq
MIRT2604833	hsa-miR-4472	CLIP-seq
MIRT2604834	hsa-miR-4488	CLIP-seq
MIRT2604835	hsa-miR-4518	CLIP-seq
MIRT2604836	hsa-miR-4651	CLIP-seq
MIRT2604837	hsa-miR-4659a-3p	CLIP-seq
MIRT2604838	hsa-miR-4659b-3p	CLIP-seq
MIRT2604839	hsa-miR-4661-3p	CLIP-seq
MIRT2604840	hsa-miR-4665-5p	CLIP-seq
MIRT2604841	hsa-miR-4668-5p	CLIP-seq
MIRT2604842	hsa-miR-4671-5p	CLIP-seq
MIRT2604843	hsa-miR-4677-3p	CLIP-seq
MIRT2604844	hsa-miR-4679	CLIP-seq
MIRT2604845	hsa-miR-4691-3p	CLIP-seq
MIRT2604846	hsa-miR-4697-5p	CLIP-seq
MIRT2604847	hsa-miR-4716-3p	CLIP-seq
MIRT2604848	hsa-miR-4723-3p	CLIP-seq
MIRT2604849	hsa-miR-4726-3p	CLIP-seq
MIRT2604850	hsa-miR-4732-3p	CLIP-seq
MIRT2604851	hsa-miR-4742-3p	CLIP-seq
MIRT2604852	hsa-miR-4751	CLIP-seq
MIRT2604853	hsa-miR-4758-3p	CLIP-seq
MIRT2604854	hsa-miR-4766-5p	CLIP-seq
MIRT2604855	hsa-miR-4775	CLIP-seq
MIRT2604856	hsa-miR-4787-5p	CLIP-seq
MIRT2604857	hsa-miR-483-5p	CLIP-seq
MIRT2604858	hsa-miR-484	CLIP-seq
MIRT2604859	hsa-miR-486-3p	CLIP-seq
MIRT1276466	hsa-miR-488	CLIP-seq
MIRT2604860	hsa-miR-491-5p	CLIP-seq
MIRT2604861	hsa-miR-494	CLIP-seq
MIRT2604862	hsa-miR-503	CLIP-seq
MIRT2604863	hsa-miR-516a-3p	CLIP-seq
MIRT2604864	hsa-miR-520d-5p	CLIP-seq
MIRT2604865	hsa-miR-524-5p	CLIP-seq
MIRT2604866	hsa-miR-548a-5p	CLIP-seq
MIRT2604867	hsa-miR-548aa	CLIP-seq
MIRT2604868	hsa-miR-548ab	CLIP-seq
MIRT2604869	hsa-miR-548ak	CLIP-seq
MIRT2604870	hsa-miR-548b-5p	CLIP-seq
MIRT2604871	hsa-miR-548c-3p	CLIP-seq
MIRT2604872	hsa-miR-548c-5p	CLIP-seq
MIRT2604873	hsa-miR-548d-5p	CLIP-seq
MIRT2604874	hsa-miR-548h	CLIP-seq
MIRT2604875	hsa-miR-548i	CLIP-seq
MIRT2604876	hsa-miR-548j	CLIP-seq
MIRT2604877	hsa-miR-548w	CLIP-seq
MIRT2604878	hsa-miR-548y	CLIP-seq
MIRT2604879	hsa-miR-559	CLIP-seq
MIRT2604880	hsa-miR-572	CLIP-seq
MIRT2604881	hsa-miR-583	CLIP-seq
MIRT2604882	hsa-miR-600	CLIP-seq
MIRT2604883	hsa-miR-602	CLIP-seq
MIRT2604884	hsa-miR-608	CLIP-seq
MIRT2604885	hsa-miR-615-3p	CLIP-seq
MIRT2604886	hsa-miR-625	CLIP-seq
MIRT2604887	hsa-miR-653	CLIP-seq
MIRT2604888	hsa-miR-654-3p	CLIP-seq
MIRT2604889	hsa-miR-670	CLIP-seq
MIRT2604890	hsa-miR-938	CLIP-seq
MIRT2604891	hsa-miR-941	CLIP-seq
MIRT2604792	hsa-miR-125a-5p	CLIP-seq
MIRT2604793	hsa-miR-125b	CLIP-seq
MIRT2604795	hsa-miR-1275	CLIP-seq
MIRT2604796	hsa-miR-190	CLIP-seq
MIRT2604797	hsa-miR-190b	CLIP-seq
MIRT2604798	hsa-miR-1915	CLIP-seq
MIRT2604801	hsa-miR-299-3p	CLIP-seq
MIRT2604802	hsa-miR-3120-3p	CLIP-seq
MIRT2604803	hsa-miR-3120-5p	CLIP-seq
MIRT2604804	hsa-miR-3125	CLIP-seq
MIRT2604806	hsa-miR-3148	CLIP-seq
MIRT2604807	hsa-miR-3151	CLIP-seq
MIRT2604808	hsa-miR-3153	CLIP-seq
MIRT2604809	hsa-miR-3155	CLIP-seq
MIRT2604810	hsa-miR-3155b	CLIP-seq
MIRT2604812	hsa-miR-3175	CLIP-seq
MIRT2081306	hsa-miR-3180	CLIP-seq
MIRT2081307	hsa-miR-3180-3p	CLIP-seq
MIRT2604814	hsa-miR-3183	CLIP-seq
MIRT2604815	hsa-miR-3185	CLIP-seq
MIRT2604816	hsa-miR-3189-3p	CLIP-seq
MIRT2604817	hsa-miR-3189-5p	CLIP-seq
MIRT2081308	hsa-miR-3196	CLIP-seq
MIRT2604819	hsa-miR-361-3p	CLIP-seq
MIRT2604821	hsa-miR-3647-3p	CLIP-seq
MIRT2604823	hsa-miR-3916	CLIP-seq
MIRT2604824	hsa-miR-3928	CLIP-seq
MIRT2604825	hsa-miR-4252	CLIP-seq
MIRT2604826	hsa-miR-4257	CLIP-seq
MIRT2604827	hsa-miR-4279	CLIP-seq
MIRT2604828	hsa-miR-4282	CLIP-seq
MIRT2604829	hsa-miR-4319	CLIP-seq
MIRT2604830	hsa-miR-4330	CLIP-seq
MIRT2604831	hsa-miR-4447	CLIP-seq
MIRT2604833	hsa-miR-4472	CLIP-seq
MIRT2604834	hsa-miR-4488	CLIP-seq
MIRT2604839	hsa-miR-4661-3p	CLIP-seq
MIRT2604840	hsa-miR-4665-5p	CLIP-seq
MIRT2604841	hsa-miR-4668-5p	CLIP-seq
MIRT2604842	hsa-miR-4671-5p	CLIP-seq
MIRT2604845	hsa-miR-4691-3p	CLIP-seq
MIRT2604846	hsa-miR-4697-5p	CLIP-seq
MIRT2604847	hsa-miR-4716-3p	CLIP-seq
MIRT2604848	hsa-miR-4723-3p	CLIP-seq
MIRT2604849	hsa-miR-4726-3p	CLIP-seq
MIRT2604850	hsa-miR-4732-3p	CLIP-seq
MIRT2604851	hsa-miR-4742-3p	CLIP-seq
MIRT2604852	hsa-miR-4751	CLIP-seq
MIRT2604853	hsa-miR-4758-3p	CLIP-seq
MIRT2604854	hsa-miR-4766-5p	CLIP-seq
MIRT2604855	hsa-miR-4775	CLIP-seq
MIRT2604857	hsa-miR-483-5p	CLIP-seq
MIRT2604858	hsa-miR-484	CLIP-seq
MIRT2604859	hsa-miR-486-3p	CLIP-seq
MIRT2604860	hsa-miR-491-5p	CLIP-seq
MIRT2604861	hsa-miR-494	CLIP-seq
MIRT2604862	hsa-miR-503	CLIP-seq
MIRT2604864	hsa-miR-520d-5p	CLIP-seq
MIRT2604865	hsa-miR-524-5p	CLIP-seq
MIRT2604881	hsa-miR-583	CLIP-seq
MIRT2604882	hsa-miR-600	CLIP-seq
MIRT2604885	hsa-miR-615-3p	CLIP-seq
MIRT2604886	hsa-miR-625	CLIP-seq
MIRT2604888	hsa-miR-654-3p	CLIP-seq
MIRT2604889	hsa-miR-670	CLIP-seq
MIRT2604890	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IDA	8524829
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	ISS
GO:0005515	Function	Protein binding	IPI	16273344, 32814053
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	26231120
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8524829
GO:0006470	Process	Protein dephosphorylation	IDA	8524829
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0008201	Function	Heparin binding	IEA
GO:0008201	Function	Heparin binding	ISS
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0010977	Process	Negative regulation of neuron projection development	ISS
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030517	Process	Negative regulation of axon extension	IEA
GO:0030517	Process	Negative regulation of axon extension	ISS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032687	Process	Negative regulation of interferon-alpha production	IMP	26231120
GO:0032688	Process	Negative regulation of interferon-beta production	IMP	26231120
GO:0034164	Process	Negative regulation of toll-like receptor 9 signaling pathway	IMP	26231120
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	ISS
GO:0035374	Function	Chondroitin sulfate binding	IEA
GO:0035374	Function	Chondroitin sulfate binding	ISS
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043395	Function	Heparan sulfate proteoglycan binding	ISS
GO:0045202	Component	Synapse	IEA
GO:0048671	Process	Negative regulation of collateral sprouting	IEA
GO:0048671	Process	Negative regulation of collateral sprouting	ISS
GO:0048681	Process	Negative regulation of axon regeneration	IEA
GO:0048681	Process	Negative regulation of axon regeneration	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0061000	Process	Negative regulation of dendritic spine development	IEA
GO:0061000	Process	Negative regulation of dendritic spine development	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090557	Process	Establishment of endothelial intestinal barrier	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099151	Process	Regulation of postsynaptic density assembly	IEA
GO:0099537	Process	Trans-synaptic signaling	IEA
GO:0099560	Process	Synaptic membrane adhesion	IBA
GO:0099560	Process	Synaptic membrane adhesion	IDA	23345436
GO:0099560	Process	Synaptic membrane adhesion	IEA
GO:0099560	Process	Synaptic membrane adhesion	IMP	23345436

Other IDs

• MIM: 601576
• HGNC: 9681
• e!Ensembl: ENSG00000105426

Protein

• UniProt ID: Q13332
• Protein name: Receptor-type tyrosine-protein phosphatase S (R-PTP-S) (EC 3.1.3.48) (Receptor-type tyrosine-protein phosphatase sigma) (R-PTP-sigma)
• Protein function: Cell surface receptor that binds to glycosaminoglycans, including chondroitin sulfate proteoglycans and heparan sulfate proteoglycan (PubMed:21454754). Binding to chondroitin sulfate and heparan sulfate proteoglycans has opposite effects on PTPR
• PDB: 2FH7, 2YD2, 2YD3, 2YD9, 4BPC, 4PBX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	33 → 124	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	135 → 220		Domain
  PF07679	I-set	245 → 328	Immunoglobulin I-set domain	Domain
  PF00041	fn3	333 → 414	Fibronectin type III domain	Domain
  PF00041	fn3	428 → 513	Fibronectin type III domain	Domain
  PF00041	fn3	526 → 606	Fibronectin type III domain	Domain
  PF00041	fn3	620 → 708	Fibronectin type III domain	Domain
  PF00041	fn3	722 → 821	Fibronectin type III domain	Domain
  PF00041	fn3	835 → 917	Fibronectin type III domain	Domain
  PF00041	fn3	930 → 1022	Fibronectin type III domain	Domain
  PF00102	Y_phosphatase	1416 → 1647	Protein-tyrosine phosphatase	Domain
  PF00102	Y_phosphatase	1705 → 1938	Protein-tyrosine phosphatase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in peripheral blood plasmacytoid dendritic cells (at protein level) (PubMed:26231120). Detected in all tissues tested except for placenta and liver (PubMed:8524829, PubMed:8992885). Detected in peripheral blood plasmacytoid de
• Sequence:

  MAPTWGPGMVSVVGPMGLLVVLLVGGCAAEEPPRFIKEPKDQIGVSGGVASFVCQATGDP
  KPRVTWNKKGKKVNSQRFETIEFDESAGAVLRIQPLRTPRDENVYECVAQNSVGEITVHA
  KLTVLREDQLPSGFPNIDMGPQLKVVERTRTATMLCAASGNPDPEITWFKDFLPVDPSAS
  NGRIKQLRSETFESTPIRGALQIESSEETDQGKYECVATNSAGVRYSSPANLYVRELREV
  RRVAPRFSILPMSHEIMPGGNVNITCVAVGSPMPYVKWMQGAEDLTPEDDMPVGRNVLEL
  TDVKDSANYTCVAMSSLGVIEAVAQITVKSLPKAPGTPMVTENTATSITITWDSGNPDPV
  SYYVIEYKSKSQDGPYQIKEDITTTRYSIGGLSPNSEYEIWVSAVNSIGQGPPSESVVTR
  TGEQAPASAPRNVQARMLSATTMIVQWEEPVEPNGLIRGYRVYYTMEPEHPVGNWQKHNV
  DDSLLTTVGSLLEDETYTVRVLAFTSVGDGPLSDPIQVKTQQGVPGQPMNLRAEARSETS
  ITLSWSPPRQESIIKYELLFREGDHGREVGRTFDPTTSYVVEDLKPNTEYAFRLAARSPQ
  GLGAFTPVVRQRTLQSKPSAPPQDVKCVSVRSTAILVSWRPPPPETHNGALVGYSVRYRP
  LGSEDPEPKEVNGIPPTTTQILLEALEKWTQYRITTVAHTEVGPGPESSPVVVRTDEDVP
  SAPPRKVEAEALNATAIRVLWRSPAPGRQHGQIRGYQVHYVRMEGAEARGPPRIKDVMLA
  DAQWETDDTAEYEMVITNLQPETAYSITVAAYTMKGDGARSKPKVVVTKGAVLGRPTLSV
  QQTPEGSLLARWEPPAGTAEDQVLGYRLQFGREDSTPLATLEFPPSEDRYTASGVHKGAT
  YVFRLAARSRGGLGEEAAEVLSIPEDTPRGHPQILEAAGNASAGTVLLRWLPPVPAERNG
  AIVKYTVAVREAGALGPARETELPAAAEPGAENALTLQGLKPDTAYDLQVRAHTRRGPGP
  FSPPVRYRTFLRDQVSPKNFKVKMIMKTSVLLSWEFPDNYNSPTPYKIQYNGLTLDVDGR
  TTKKLITHLKPHTFYNFVLTNRGSSLGGLQQTVTAWTAFNLLNGKPSVAPKPDADGFIMV
  YLPDGQSPVPVQSYFIVMVPLRKSRGGQFLTPLGSPEDMDLEELIQDISRLQRRSLRHSR
  QLEVPRPYIAARFSVLPPTFHPGDQKQYGGFDNRGLEPGHRYVLFVLAVLQKSEPTFAAS
  PFSDPFQLDNPDPQPIVDGEEGLIWVIGPVLAVVFIICIVIAILLYKNKPDSKRKDSEPR
  TKCLLNNADLAPHHPKDPVEMRRINFQTPDSGLRSPLREPGFHFESMLSHPPIPIADMAE
  HTERLKANDSLKLSQEYESIDPGQQFTWEHSNLEVNKPKNRYANVIAYDHSRVILQPIEG
  IMGSDYINANYVDGYRCQNAYIATQGPLPETFGDFWRMVWEQRSATIVMMTRLEEKSRIK
  CDQYWPNRGTETYGFIQVTLLDTIELATFCVRTFSLHKNGSSEKREVRQFQFTAWPDHGV
  PEYPTPFLAFLRRVKTCNPPDAGPIVVHCSAGVGRTGCFIVIDAMLERIKPEKTVDVYGH
  VTLMRSQRNYMVQTEDQYSFIHEALLEAVGCGNTEVPARSLYAYIQKLAQVEPGEHVTGM
  ELEFKRLANSKAHTSRFISANLPCNKFKNRLVNIMPYESTRVCLQPIRGVEGSDYINASF
  IDGYRQQKAYIATQGPLAETTEDFWRMLWENNSTIVVMLTKLREMGREKCHQYWPAERSA
  RYQYFVVDPMAEYNMPQYILREFKVTDARDGQSRTVRQFQFTDWPEQGVPKSGEGFIDFI
  GQVHKTKEQFGQDGPISVHCSAGVGRTGVFITLSIVLERMRYEGVVDIFQTVKMLRTQRP
  AMVQTEDEYQFCYQAALEYLGSFDHYAT

• Sequence length: 1948

Pathways

KEGG:

Cell adhesion molecules

Reactome:

Receptor-type tyrosine-protein phosphatases
Synaptic adhesion-like molecules

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
NK-cell enteropathy	Likely pathogenic	rs140472977	RCV000791306	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METACHRONOUS COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTPRS-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	21303930	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35991009	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	17614280		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29915291, 31827720		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19000305, 29915291	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	17893260		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	16825954		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	22065749	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24385580		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26308964	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22065749	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35991009	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28614626		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20111712	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	28614626		★☆☆☆☆ Found in Text Mining only
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	29906576		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	31095341		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	17614280, 18598228		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	17614280		★☆☆☆☆ Found in Text Mining only