Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	112476
Gene name	Proline rich transmembrane protein 2
Gene symbol	PRRT2
Synonyms (NCBI Gene)	BFIC2BFIS2DSPB3DYT10EKD1FICCAICCAIFITMD1PKC
Chromosome	16
Chromosome location	16p11.2
Summary	This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated

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Show/Hide all (209)

miRTarBase ID	miRNA	Experiments	Reference
MIRT490083	hsa-miR-8080	PAR-CLIP	20371350
MIRT490081	hsa-miR-483-5p	PAR-CLIP	20371350
MIRT569947	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT569946	hsa-miR-9500	PAR-CLIP	20371350
MIRT569945	hsa-miR-4533	PAR-CLIP	20371350
MIRT569944	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT569943	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT490075	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT490074	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT490073	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT490072	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT490069	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT490070	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT490068	hsa-miR-5698	PAR-CLIP	20371350
MIRT490067	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT490066	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT490065	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT490064	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT490083	hsa-miR-8080	PAR-CLIP	23592263
MIRT490082	hsa-miR-4428	PAR-CLIP	23592263
MIRT490081	hsa-miR-483-5p	PAR-CLIP	23592263
MIRT490080	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT490079	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT490078	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT490077	hsa-miR-4306	PAR-CLIP	23592263
MIRT490076	hsa-miR-4644	PAR-CLIP	23592263
MIRT490075	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT490074	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT490073	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT490072	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT490071	hsa-miR-3175	PAR-CLIP	23592263
MIRT490069	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT490070	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490068	hsa-miR-5698	PAR-CLIP	23592263
MIRT490067	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490066	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490065	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT490064	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT490063	hsa-miR-504-5p	PAR-CLIP	23592263
MIRT490062	hsa-miR-4530	PAR-CLIP	23592263
MIRT490061	hsa-miR-4292	PAR-CLIP	23592263
MIRT490060	hsa-miR-6791-5p	PAR-CLIP	23592263
MIRT490059	hsa-miR-6742-3p	PAR-CLIP	23592263
MIRT490058	hsa-miR-6776-5p	PAR-CLIP	23592263
MIRT490056	hsa-miR-4725-5p	PAR-CLIP	23592263
MIRT490057	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT490055	hsa-miR-6745	PAR-CLIP	23592263
MIRT490054	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT490053	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT490052	hsa-miR-1293	PAR-CLIP	23592263
MIRT490051	hsa-miR-4483	PAR-CLIP	23592263
MIRT490050	hsa-miR-6772-5p	PAR-CLIP	23592263
MIRT490049	hsa-miR-4455	PAR-CLIP	23592263
MIRT490048	hsa-miR-609	PAR-CLIP	23592263
MIRT490047	hsa-miR-4281	PAR-CLIP	23592263
MIRT490046	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT490045	hsa-miR-4669	PAR-CLIP	23592263
MIRT490044	hsa-miR-7977	PAR-CLIP	23592263
MIRT490043	hsa-miR-1262	PAR-CLIP	23592263
MIRT490041	hsa-miR-4701-3p	PAR-CLIP	23592263
MIRT490042	hsa-miR-6736-5p	PAR-CLIP	23592263
MIRT490040	hsa-miR-6741-5p	PAR-CLIP	23592263
MIRT490039	hsa-miR-133a-3p	PAR-CLIP	23592263
MIRT490083	hsa-miR-8080	PAR-CLIP	20371350
MIRT490081	hsa-miR-483-5p	PAR-CLIP	20371350
MIRT569947	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT569946	hsa-miR-9500	PAR-CLIP	20371350
MIRT569945	hsa-miR-4533	PAR-CLIP	20371350
MIRT569944	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT569943	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT490075	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT490074	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT490073	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT490072	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT490069	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT490070	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT490068	hsa-miR-5698	PAR-CLIP	20371350
MIRT490067	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT490066	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT490065	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT490064	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT490083	hsa-miR-8080	PAR-CLIP	23592263
MIRT490082	hsa-miR-4428	PAR-CLIP	23592263
MIRT490081	hsa-miR-483-5p	PAR-CLIP	23592263
MIRT490080	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT490079	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT490078	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT490077	hsa-miR-4306	PAR-CLIP	23592263
MIRT490076	hsa-miR-4644	PAR-CLIP	23592263
MIRT490075	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT490074	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT490073	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT490072	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT490071	hsa-miR-3175	PAR-CLIP	23592263
MIRT490069	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT490070	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490068	hsa-miR-5698	PAR-CLIP	23592263
MIRT490067	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490066	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490065	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT490064	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT490063	hsa-miR-504-5p	PAR-CLIP	23592263
MIRT490062	hsa-miR-4530	PAR-CLIP	23592263
MIRT490061	hsa-miR-4292	PAR-CLIP	23592263
MIRT490060	hsa-miR-6791-5p	PAR-CLIP	23592263
MIRT490059	hsa-miR-6742-3p	PAR-CLIP	23592263
MIRT490058	hsa-miR-6776-5p	PAR-CLIP	23592263
MIRT490056	hsa-miR-4725-5p	PAR-CLIP	23592263
MIRT490057	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT490055	hsa-miR-6745	PAR-CLIP	23592263
MIRT490054	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT490053	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT490052	hsa-miR-1293	PAR-CLIP	23592263
MIRT490051	hsa-miR-4483	PAR-CLIP	23592263
MIRT490050	hsa-miR-6772-5p	PAR-CLIP	23592263
MIRT490049	hsa-miR-4455	PAR-CLIP	23592263
MIRT490048	hsa-miR-609	PAR-CLIP	23592263
MIRT490047	hsa-miR-4281	PAR-CLIP	23592263
MIRT490046	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT490045	hsa-miR-4669	PAR-CLIP	23592263
MIRT490044	hsa-miR-7977	PAR-CLIP	23592263
MIRT490043	hsa-miR-1262	PAR-CLIP	23592263
MIRT490041	hsa-miR-4701-3p	PAR-CLIP	23592263
MIRT490042	hsa-miR-6736-5p	PAR-CLIP	23592263
MIRT490040	hsa-miR-6741-5p	PAR-CLIP	23592263
MIRT490039	hsa-miR-133a-3p	PAR-CLIP	23592263
MIRT1268225	hsa-miR-1255a	CLIP-seq
MIRT1268226	hsa-miR-1255b	CLIP-seq
MIRT1268227	hsa-miR-1257	CLIP-seq
MIRT1268228	hsa-miR-1275	CLIP-seq
MIRT1268229	hsa-miR-1286	CLIP-seq
MIRT1268230	hsa-miR-1321	CLIP-seq
MIRT1268231	hsa-miR-139-5p	CLIP-seq
MIRT1268232	hsa-miR-1827	CLIP-seq
MIRT1268233	hsa-miR-1909	CLIP-seq
MIRT1268234	hsa-miR-2467-3p	CLIP-seq
MIRT1268235	hsa-miR-31	CLIP-seq
MIRT1268236	hsa-miR-3127-5p	CLIP-seq
MIRT1268237	hsa-miR-3128	CLIP-seq
MIRT1268238	hsa-miR-3180-5p	CLIP-seq
MIRT1268239	hsa-miR-3185	CLIP-seq
MIRT1268240	hsa-miR-3652	CLIP-seq
MIRT1268241	hsa-miR-4260	CLIP-seq
MIRT1268242	hsa-miR-4270	CLIP-seq
MIRT1268243	hsa-miR-4430	CLIP-seq
MIRT1268244	hsa-miR-4436a	CLIP-seq
MIRT1268245	hsa-miR-4441	CLIP-seq
MIRT1268246	hsa-miR-4477b	CLIP-seq
MIRT1268247	hsa-miR-4492	CLIP-seq
MIRT1268248	hsa-miR-4498	CLIP-seq
MIRT1268249	hsa-miR-4650-5p	CLIP-seq
MIRT1268250	hsa-miR-4665-5p	CLIP-seq
MIRT1268251	hsa-miR-4715-5p	CLIP-seq
MIRT1268252	hsa-miR-4722-5p	CLIP-seq
MIRT1268253	hsa-miR-4739	CLIP-seq
MIRT1268254	hsa-miR-4756-5p	CLIP-seq
MIRT1268255	hsa-miR-519a	CLIP-seq
MIRT1268256	hsa-miR-519b-3p	CLIP-seq
MIRT1268257	hsa-miR-519c-3p	CLIP-seq
MIRT1268258	hsa-miR-520a-5p	CLIP-seq
MIRT1268259	hsa-miR-525-5p	CLIP-seq
MIRT1268260	hsa-miR-582-5p	CLIP-seq
MIRT1268261	hsa-miR-7	CLIP-seq
MIRT1268262	hsa-miR-759	CLIP-seq
MIRT1268263	hsa-miR-762	CLIP-seq
MIRT1268264	hsa-miR-940	CLIP-seq
MIRT1268228	hsa-miR-1275	CLIP-seq
MIRT1268230	hsa-miR-1321	CLIP-seq
MIRT1268233	hsa-miR-1909	CLIP-seq
MIRT2078838	hsa-miR-198	CLIP-seq
MIRT2078839	hsa-miR-2110	CLIP-seq
MIRT2078840	hsa-miR-3123	CLIP-seq
MIRT2078841	hsa-miR-3150a-3p	CLIP-seq
MIRT2078842	hsa-miR-3689d	CLIP-seq
MIRT2078843	hsa-miR-3919	CLIP-seq
MIRT2078844	hsa-miR-4259	CLIP-seq
MIRT1268241	hsa-miR-4260	CLIP-seq
MIRT1268242	hsa-miR-4270	CLIP-seq
MIRT1268245	hsa-miR-4441	CLIP-seq
MIRT1268247	hsa-miR-4492	CLIP-seq
MIRT1268248	hsa-miR-4498	CLIP-seq
MIRT1268250	hsa-miR-4665-5p	CLIP-seq
MIRT1268253	hsa-miR-4739	CLIP-seq
MIRT1268254	hsa-miR-4756-5p	CLIP-seq
MIRT1268258	hsa-miR-520a-5p	CLIP-seq
MIRT1268259	hsa-miR-525-5p	CLIP-seq
MIRT2078845	hsa-miR-571	CLIP-seq
MIRT1268263	hsa-miR-762	CLIP-seq
MIRT2078846	hsa-miR-939	CLIP-seq
MIRT2078839	hsa-miR-2110	CLIP-seq
MIRT2078841	hsa-miR-3150a-3p	CLIP-seq
MIRT2078842	hsa-miR-3689d	CLIP-seq
MIRT2078844	hsa-miR-4259	CLIP-seq
MIRT2078845	hsa-miR-571	CLIP-seq
MIRT2078846	hsa-miR-939	CLIP-seq
MIRT1268246	hsa-miR-4477b	CLIP-seq
MIRT1268230	hsa-miR-1321	CLIP-seq
MIRT1268233	hsa-miR-1909	CLIP-seq
MIRT1268239	hsa-miR-3185	CLIP-seq
MIRT1268240	hsa-miR-3652	CLIP-seq
MIRT1268242	hsa-miR-4270	CLIP-seq
MIRT1268243	hsa-miR-4430	CLIP-seq
MIRT1268245	hsa-miR-4441	CLIP-seq
MIRT1268253	hsa-miR-4739	CLIP-seq
MIRT1268254	hsa-miR-4756-5p	CLIP-seq
MIRT1268255	hsa-miR-519a	CLIP-seq
MIRT1268256	hsa-miR-519b-3p	CLIP-seq
MIRT1268257	hsa-miR-519c-3p	CLIP-seq
MIRT1268261	hsa-miR-7	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	ISS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0017075	Function	Syntaxin-1 binding	ISS
GO:0030424	Component	Axon	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031629	Process	Synaptic vesicle fusion to presynaptic active zone membrane	IEA
GO:0031629	Process	Synaptic vesicle fusion to presynaptic active zone membrane	ISS
GO:0031982	Component	Vesicle	IEA
GO:0031982	Component	Vesicle	ISS
GO:0035544	Process	Negative regulation of SNARE complex assembly	IEA
GO:0035544	Process	Negative regulation of SNARE complex assembly	ISS
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0043679	Component	Axon terminus	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IMP	22101681
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	ISS
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0150037	Process	Regulation of calcium-dependent activation of synaptic vesicle fusion	IEA
GO:1905513	Process	Negative regulation of short-term synaptic potentiation	IEA
GO:1905513	Process	Negative regulation of short-term synaptic potentiation	ISS

MIM	HGNC	e!Ensembl
614386	30500	ENSG00000167371

Q7Z6L0

Protein name

Proline-rich transmembrane protein 2 (Dispanin subfamily B member 3) (DSPB3)

Protein function

As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04505	CD225	264 → 331	Interferon-induced transmembrane protein	Family

Sequence

MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVD
SGPKAGLAPETTETPAGASETAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATA
DQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPELPTQEDPTPEILSESVGEKQE
NGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQ
GDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK

Sequence length

340

Interactions

View interactions

711

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Benign familial neonatal-infantile seizures 1	Likely pathogenic; Pathogenic	rs587778771	RCV006253704
Convulsions	Likely pathogenic; Pathogenic	rs587778771	RCV004798766
Episodic kinesigenic dyskinesia	Likely pathogenic; Pathogenic	rs1220798796, rs2142427391, rs2142424961, rs2142425196, rs2142427166, rs1596893952, rs2142428932, rs2142425874, rs796052938, rs1217390170, rs2142423194, rs2142426594, rs906768870, rs1244255905, rs2142423439 View all (59 more)	RCV001372496 RCV001378291 RCV001382475 RCV001388476 RCV001390493 RCV001385717 RCV001381944 RCV001912605 RCV001959350 RCV001904201 RCV001917425 RCV002007216 RCV001931737 RCV001911347 RCV001939356 RCV001884038 RCV001887057 RCV002039934 RCV003063190 RCV003041252 RCV003074980 RCV003077774 RCV002856979 RCV002889135 RCV002890143 RCV002933300 RCV003016735 RCV003022750 RCV003029714 RCV003032990 RCV001045357 RCV002519065 RCV003758742 RCV003594668 RCV003594931 RCV003595384 RCV003593651 RCV003594497 RCV003594584 RCV003760763 RCV003760900 RCV003758589 RCV003758673 RCV003758505 RCV003759234 RCV003761163 RCV002513223 RCV002228054 RCV001067788 RCV000817890 RCV001386018 RCV000802861 RCV000554439 RCV000820557 RCV002233521 RCV002233245 RCV000699393 RCV000819935 RCV000793404 RCV000816580 RCV000804400 RCV000824097 RCV000820861 RCV000803890 RCV000791409 RCV001389771 RCV001058348 RCV001036192 RCV003594091 RCV001215131 RCV001208461 RCV001309110 RCV001218046 RCV001215342 RCV001223315 RCV001215553 RCV001228908 RCV001238673 RCV001309672
Episodic kinesigenic dyskinesia 1	Pathogenic; Likely pathogenic	rs1403034524, rs2543334133, rs886042013, rs2466344219, rs2543333664, rs769519069, rs2543335595, rs2543335628, rs730882065, rs730882066, rs730882067, rs387907126, rs387907127, rs587778771, rs397514579 View all (5 more)	RCV002250268 RCV002289507 RCV002248505 RCV004796788 RCV003335790 RCV005254780 RCV003404870 RCV003479635 RCV000024167 RCV000024168 RCV002247391 RCV002247392 RCV000024174 RCV000032970 RCV002247412 RCV000032974 RCV000625699 RCV000768058 RCV000055991 RCV001004741 RCV002249678 RCV004671243
Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysmal choreoathetosis	Likely pathogenic	rs796052938	RCV004671574
Infantile convulsions and choreoathetosis	Likely pathogenic; Pathogenic	rs1555502665, rs2466344219, rs2543332388, rs730882067, rs387907125, rs387907126, rs730882068, rs387907127, rs77838305, rs587778771, rs397514578, rs397514579, rs1567380076, rs1567379016, rs1596893952, rs1239450803 View all (1 more)	RCV002086748 RCV004796788 RCV003389297 RCV000024169 RCV000024170 RCV000024172 RCV000024173 RCV000024175 RCV001332953 RCV003389315 RCV000032971 RCV005430946 RCV000761542 RCV000768058 RCV003313980 RCV000153783 RCV004671243
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs587778771	RCV002273952
Paroxysmal central nervous system disorders	Likely pathogenic; Pathogenic	rs587778771	RCV006272133
Paroxysmal nonkinesigenic dyskinesia 1	Likely pathogenic; Pathogenic	rs587778771	RCV000991298
PRRT2 insufficiency	Likely pathogenic; Pathogenic	rs587778771	RCV001264813
PRRT2-associated paroxysmal movement disorder	Pathogenic; Likely pathogenic	rs730882067, rs77838305, rs587778771	RCV006249563 RCV004787889 RCV004786287
PRRT2-Associated Paroxysmal Movement Disorders	Likely pathogenic; Pathogenic	rs587778771	RCV001563615
PRRT2-related disorder	Likely pathogenic; Pathogenic	rs769519069, rs587778771, rs796052941	RCV004529839 RCV004532478 RCV002280097 RCV004545049
See cases	Likely pathogenic; Pathogenic	rs587778771	RCV004584342
Seizure	Likely pathogenic; Pathogenic	rs587778771, rs1900111672, rs796052938	RCV000193894 RCV001255706 RCV005624471
Seizures, benign familial infantile, 2	Pathogenic; Likely pathogenic	rs1900052727, rs2142423353, rs1220798796, rs2543334077, rs730882124, rs2543333035, rs777959783, rs2543339445, rs2466344219, rs2543332388, rs1596893185, rs387907126, rs77838305, rs587778771, rs730882067 View all (7 more)	RCV001808942 RCV002290855 RCV002286491 RCV002290208 RCV000161142 RCV003225995 RCV003232633 RCV003225612 RCV004796788 RCV004763673 RCV000024171 RCV002288519 RCV002289762 RCV001253175 RCV000032972 RCV000032973 RCV000032975 RCV000768058 RCV000585818 RCV001004750 RCV001644913 RCV003333135 RCV001253590
Self-limited familial infantile epilepsy	Likely pathogenic; Pathogenic	rs587778771	RCV002470742

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Complex febrile seizure	Uncertain significance	rs1567378768	RCV000678832
Global developmental delay	Uncertain significance	rs1057518890	RCV000415382
Hyperactivity	Uncertain significance	rs1057518890	RCV000415382
Profound intellectual disability	Uncertain significance	rs1057518890	RCV000415382

Show/Hide Text Mining Associations (210)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	23190448
Adenocarcinoma	Associate	19014523, 26840258
Adenocarcinoma of Lung	Associate	16055435
Adenoma	Stimulate	8434650
Adrenoleukodystrophy	Associate	9639664
Alzheimer Disease	Inhibit	10101252
Alzheimer Disease	Stimulate	17188679
Alzheimer Disease	Associate	18336728, 19233276, 22916103, 28831118, 8063812, 9144240
Amyotrophic Lateral Sclerosis	Associate	37629005
Angioedemas Hereditary	Inhibit	11050091
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	1893620
Aphasia	Associate	22845787
Arthritis Psoriatic	Inhibit	7547380
Arthritis Rheumatoid	Associate	18787303
Ataxia Telangiectasia	Associate	19592494
Atrial Fibrillation	Associate	33028764
Autistic Disorder	Inhibit	22949890
Autistic Disorder	Associate	24594579
Autoimmune Diseases	Associate	21669868
Barrett Esophagus	Associate	12121879
Bartter Syndrome	Associate	11532083
Bipolar Disorder	Associate	17208254, 32882578
Blister	Associate	9077478
Blood Platelet Disorders	Associate	20525309, 29436605, 31163690, 39913544
Body Dysmorphic Disorders	Associate	26993267
Breast Neoplasms	Associate	10047452, 1356626, 15498560, 19324060, 19324870, 19406749, 21720730, 23562764, 24753582, 28755423, 31979064, 34608498, 35298675, 36329884, 39219290, 7499402, 7560079 View all (2 more)
Calcinosis Cutis	Associate	1988168
Carcinogenesis	Associate	16940160, 19099253, 21832145, 23349696, 25225290, 36782184
Carcinoma Endometrioid	Associate	39311033
Carcinoma Hepatocellular	Associate	19949911, 25289898, 25514221, 33307168, 9244191
Carcinoma Non Small Cell Lung	Associate	19333010, 21219643
Carcinoma Ovarian Epithelial	Associate	21414654
Carcinoma Renal Cell	Associate	10737390, 18075299, 20459627, 9346879
Carcinoma Squamous Cell	Associate	21769085
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	29176328
Cardiomyopathy Restrictive	Associate	27557662
Cardiovascular Diseases	Associate	25479336
Cerebral Infarction	Associate	27094771
Charcot Marie Tooth disease Type 1C	Associate	19995395, 22870186, 26936445, 30125676, 32509037
Chediak Higashi Syndrome	Associate	11529921
Cholestasis	Associate	31316180
Chorea	Associate	23077017, 23077024, 23077026, 23190448, 24594579, 36958475
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	22877996, 25205014, 31154286, 31722684
Choriocarcinoma	Associate	11313339
Cold Injury	Stimulate	35102644
Colonic Neoplasms	Associate	8913270, 9820166
Colorectal Neoplasms	Associate	14527959, 15548175, 16984735, 19686845, 21951556, 27907910, 30289336, 31810137, 34903321, 35657974, 9166410
Coronary Disease	Associate	38293916, 40147550
COVID 19	Associate	36736734
Craniocerebral Trauma	Associate	32483284
Crohn Disease	Associate	16327498, 26215868
Depressive Disorder	Inhibit	19573263
Depressive Disorder Major	Associate	19573263
Developmental Disabilities	Associate	24372385, 26993267
Diabetes Gestational	Associate	15272035, 40298873
Diabetes Mellitus	Associate	15327405, 17579087, 25420887, 36736734, 38293916
Diabetes Mellitus Type 2	Associate	26386696, 36736734
Diabetic Nephropathies	Associate	15327405, 26823823, 35844803
Diarrhea	Associate	24370076
Disease	Associate	1431218
Disseminated Intravascular Coagulation	Associate	39913544
Drug Related Side Effects and Adverse Reactions	Associate	12712458, 19887445, 29794421, 34206330, 9744505
Dyskinesia Drug Induced	Associate	23363396, 29148542, 31722684
Dystonia	Associate	31722684, 31731261, 35041927
Endometrial Neoplasms	Associate	27907910, 8701784
Epilepsies Myoclonic	Associate	25522171, 32237035
Epilepsies Partial	Associate	25794116
Epilepsy	Associate	22877996, 23190448, 24372385, 25522171, 29454195, 30977854, 32237035, 32246320, 34153113, 36775847, 36958475, 37884687
Epilepsy Absence	Associate	23077026
Epilepsy Benign Neonatal	Associate	22845787, 22870186, 22877996, 23077017, 23077018, 23077024, 23566103, 24370076, 24886244, 25522171, 25794116, 29215089, 30125676, 30307717, 31154286 View all (7 more)
Epilepsy Rolandic	Associate	24372385
Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp	Associate	24372385
Epileptic Syndromes	Associate	32246320, 34298454
Episodic Ataxia	Associate	23077024, 23126439, 33731672, 36441479, 36958475
Esophageal Neoplasms	Associate	28771997
Extranodal Extension	Associate	29532876
Familial paroxysmal dystonia	Associate	22120146, 22131361, 22515636, 22752065, 22845787, 22870186, 22877996, 22985072, 23077017, 23077018, 23077024, 23126439, 23176561, 23363396, 23566103 View all (27 more)
Fever	Associate	23077018
Fibrocartilaginous embolism	Associate	21337395
Frasier Syndrome	Associate	25522171
Fuchs' Endothelial Dystrophy	Associate	9234795
Gastroesophageal Reflux	Associate	34438042
Gastrointestinal Neoplasms	Stimulate	9442092
Glioblastoma	Associate	10336429, 10806212, 15618223, 20669099, 28051998, 28714013, 29642372, 33916643
Glioblastoma	Inhibit	28550683
Glioma	Associate	10848585, 11238734, 11483662, 12712458, 15842253, 18462865, 19176518, 27903982, 33721446, 8194597
Gliosis	Associate	28841900
Glut1 Deficiency Syndrome	Associate	16685256
Granulomatous Disease Chronic	Associate	9864180
Growth Disorders	Associate	12393454
Guillain Barre Syndrome	Associate	8618832
Head and Neck Neoplasms	Associate	16508638
Heart defects limb shortening	Associate	25479336
Heart Diseases	Associate	25420887, 25771144, 33028764
Heart Failure	Associate	24356123, 24814372
Hemiplegic migraine familial type 1	Associate	30167989
Hepatitis C	Associate	37272842
Hereditary Angioedema Type III	Associate	18328421
HIV Infections	Associate	30413535
HTLV I Infections	Associate	12970407
Hyperglycemia	Stimulate	18633117
Hyperglycemia	Associate	22162761
Hyperglycemic Hyperosmolar Nonketotic Coma	Stimulate	35844803
Hypotension	Associate	34825477
Hypoxia	Associate	34768826
Hypoxia Brain	Associate	26282073
Impotence Vasculogenic	Associate	27903982
Infantile convulsions and paroxysmal choreoathetosis familial	Associate	21060786, 22845787, 23077017, 23077018, 23566103, 24370076, 26936445, 32237035
Infections	Associate	17494076, 29059211
Inflammation	Associate	11023512, 19279008, 27548147, 32429534, 35563204, 9294011
Influenza Human	Stimulate	29059211
Insulin Resistance	Associate	23454694
Intellectual Disability	Associate	23126439, 23566103, 24594579
Ischemia	Associate	9583183
Kidney Diseases	Associate	15327405
Kifafa seizure disorder	Associate	33826176
Legionnaires' Disease	Associate	19324950
Leukemia	Associate	10918054, 1530879, 15693136, 24334295, 32466311, 8340409, 9770354
Leukemia Biphenotypic Acute	Associate	24990612, 32466311
Leukemia Erythroblastic Acute	Associate	8340409
Leukemia Lymphocytic Chronic B Cell	Associate	15929099, 22569400
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	12902478, 14670960
Leukemia Myeloid	Associate	11880362, 2175219, 8288641, 9858570
Leukemia Myeloid Acute	Associate	32855276, 34536536, 36835239, 7912555
Leukemia Myelomonocytic Chronic	Associate	9770354
Leukemia Prolymphocytic T Cell	Associate	19737143, 19995395, 23278106
Leukemia Promyelocytic Acute	Associate	10997964
Liver Cirrhosis	Associate	29633755
Lung Neoplasms	Associate	11682458, 23349696, 25724832, 26498639, 29528086, 30988374, 8138560
Lung Neoplasms	Inhibit	19333010
Lupus Erythematosus Systemic	Associate	15379867, 21988336, 30715676
Lymphoma	Associate	10395944, 16155593, 22966169, 24518719
Malformations of Cortical Development Group I	Associate	7988686, 9931312
Melanoma	Associate	12086864, 17426020, 18826602, 19099253, 19305641, 1988168, 22653968, 29048609, 35969127, 37474004, 37963252, 7678596
Melanoma Cutaneous Malignant	Associate	19099253, 39311033
Memory Disorders	Associate	19233276
Mental Disorders	Associate	22949890, 30307717
Metabolic Diseases	Associate	25420887
Migraine Disorders	Associate	23077017, 23077024, 23077026, 25522171, 36958475
Migraine with Aura	Associate	22845787, 23077017, 23077024, 23077026, 24370076, 24594579, 36441479, 37884687
Migraine without Aura	Associate	23077017
Mitochondrial Diseases	Associate	29849902, 35844803
Movement Disorders	Associate	22515636, 29167286
Multiple Myeloma	Associate	14644994, 25781885, 26282073
Multiple Pterygium Syndrome Autosomal Dominant	Associate	23077024
Multiple Sclerosis	Associate	8618832
Muscular Dystrophy Duchenne	Associate	23426965
Myoclonus	Associate	23190448
Myotonia Congenita	Associate	25205014
Narcolepsy	Associate	22845787, 31124310, 32237035
Nasopharyngeal Carcinoma	Associate	11284734
Necrosis	Associate	21629792
Neointima	Associate	8313898
Neoplasm Metastasis	Associate	17426020, 19099253, 25915428, 26420215, 33760219, 34608498, 37474004
Neoplasm Metastasis	Stimulate	34903321
Neoplasms	Associate	10072927, 11451996, 12121973, 12786795, 1356626, 14670960, 14976190, 15304500, 1545811, 15563462, 17189270, 17235439, 19099253, 19495772, 19724676 View all (34 more)
Neoplasms	Inhibit	19333010, 25281873, 30904392
Neoplasms	Stimulate	2557245, 26431317
Nerve Degeneration	Associate	21707856
Nervous System Diseases	Associate	36098890
Neuroblastoma	Associate	18408015, 19077250, 23155231, 7815513, 8344386, 9601059
Neurologic Manifestations	Associate	23077024, 33112230, 36441479
Nevus Blue	Associate	37474004
Niemann Pick Disease Type C	Associate	28841900
Obesity	Associate	23392873, 26386696, 26586913
Opitz Kaveggia syndrome	Associate	7579698
Osteoarthritis	Associate	10806048, 27072078, 28777797
Ovarian Neoplasms	Associate	10638963, 17341442, 17678893, 17724468, 23843242
Pancreatic Neoplasms	Associate	21832145, 22848379, 25915428, 27641742, 30686807, 30904392, 9744505
Paroxysmal nonkinesigenic dyskinesia	Associate	24370076, 32237035
Pemphigus	Associate	24711455, 25010392, 9077478
Pituitary Neoplasms	Associate	10079254, 8434650
Polyneuropathies	Associate	33826176
Polyradiculoneuropathy	Inhibit	8618832
Pre Eclampsia	Stimulate	23392873
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	25693686
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	27644318
Prostatic Hyperplasia	Associate	7545097
Prostatic Neoplasms	Associate	12824193, 16183650, 19029835, 23380421, 23826267, 25281873, 26786102, 26799186, 27902483, 27907910, 36550208
Prostatic Neoplasms Castration Resistant	Associate	36550208
Psoriasis	Associate	1431218
Pulmonary Arterial Hypertension	Associate	37128643
Pulmonary Fibrosis	Associate	29633755
Purpura Thrombocytopenic Idiopathic	Associate	16212887
Romano Ward Syndrome	Associate	25479336
Schizophrenia	Associate	31959813
Seizures	Associate	23077018, 23190448, 23566103, 24370076, 25982755, 31154286, 32237035, 35715422, 36775847
Seizures Febrile	Associate	23077018, 23077026, 23190448, 25522171, 32237035
Skin Diseases	Associate	36232814
Skin Neoplasms	Associate	1431218
Small Cell Lung Carcinoma	Associate	8138560
Spasm	Associate	27534449
Spasms Infantile	Stimulate	27534449
Spastic Paraplegia Hereditary	Associate	33826176
Squamous Cell Carcinoma of Head and Neck	Associate	21281788
Stiff Skin Syndrome	Associate	25205014
Stomach Neoplasms	Associate	10027304, 12046066, 12439916, 25724188, 28460635, 28627240
Thrombosis	Associate	11023512, 23542698
Torticollis	Associate	22845787
Tuberculosis Multidrug Resistant	Associate	12046066, 15563462, 22639047, 8624264, 9155054, 9459150
Tuberculosis Multidrug Resistant	Stimulate	8093247
Urinary Bladder Neoplasms	Associate	24528886, 26987391
Uterine Cervical Neoplasms	Associate	29610452
Uterine Diseases	Associate	15823124
Uveal melanoma	Associate	22253748, 22653968, 35352024
Vascular Diseases	Associate	24396568
Vasospasm Intracranial	Associate	31595394
Winship Viljoen Leary syndrome	Associate	36775847
Xeroderma pigmentosum variant type	Associate	18946034
Zellweger Syndrome	Associate	7535766

PRRT2 (proline rich transmembrane protein 2)