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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8106
Gene name	Poly(A) binding protein nuclear 1
Gene symbol	PABPN1
Synonyms (NCBI Gene)	OPMDPAB2PABIIPABP-2PABP2
Chromosome	14
Chromosome location	14q11.2
Summary	This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3` ends of eukaryotic transcripts and controls the size of t

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miRTarBase ID	miRNA	Experiments	Reference
MIRT049653	hsa-miR-92a-3p	CLASH	23622248
MIRT040712	hsa-miR-92b-3p	CLASH	23622248
MIRT040418	hsa-miR-615-3p	CLASH	23622248
MIRT622940	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622945	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT655555	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT622944	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT622943	hsa-miR-1248	HITS-CLIP	23824327
MIRT622942	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT655554	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT655552	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT655553	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT622941	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT622939	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT622945	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT622944	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT622943	hsa-miR-1248	HITS-CLIP	23824327
MIRT622942	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT622941	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT622940	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622939	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT622945	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT622944	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT622943	hsa-miR-1248	HITS-CLIP	23824327
MIRT622942	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT622941	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT622940	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622939	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT341281	hsa-miR-6863	PAR-CLIP	23446348
MIRT341278	hsa-miR-646	PAR-CLIP	23446348
MIRT511011	hsa-miR-494-3p	PAR-CLIP	23446348
MIRT511010	hsa-miR-4261	PAR-CLIP	23446348
MIRT511009	hsa-miR-6721-5p	PAR-CLIP	23446348
MIRT511008	hsa-miR-3672	PAR-CLIP	23446348
MIRT511007	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT511006	hsa-let-7i-3p	PAR-CLIP	23446348
MIRT069657	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT471685	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT471684	hsa-miR-101-5p	PAR-CLIP	23592263
MIRT069667	hsa-miR-6871-5p	PAR-CLIP	23592263
MIRT277974	hsa-miR-922	PAR-CLIP	23592263
MIRT277972	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT277976	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT277973	hsa-miR-761	PAR-CLIP	23592263
MIRT069661	hsa-miR-3127-3p	PAR-CLIP	23592263
MIRT069666	hsa-miR-6756-3p	PAR-CLIP	23592263
MIRT471683	hsa-miR-5193	PAR-CLIP	23592263
MIRT069662	hsa-miR-4320	PAR-CLIP	23592263
MIRT471682	hsa-miR-3115	PAR-CLIP	23592263
MIRT471681	hsa-miR-4291	PAR-CLIP	23592263
MIRT471680	hsa-miR-4713-5p	PAR-CLIP	23592263
MIRT471679	hsa-miR-6867-3p	PAR-CLIP	23592263
MIRT069664	hsa-miR-5089-5p	PAR-CLIP	23592263
MIRT069663	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT069658	hsa-miR-629-3p	PAR-CLIP	23592263
MIRT471678	hsa-miR-6757-3p	PAR-CLIP	23592263
MIRT190663	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT190657	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT190664	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT190665	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT190649	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT190662	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT190650	hsa-miR-3179	PAR-CLIP	23592263
MIRT190651	hsa-miR-3202	PAR-CLIP	23592263
MIRT190659	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT190660	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT190654	hsa-miR-4271	PAR-CLIP	23592263
MIRT190658	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT190666	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT190645	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT190653	hsa-miR-2355-5p	PAR-CLIP	23592263
MIRT471676	hsa-miR-3679-3p	PAR-CLIP	23592263
MIRT622940	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622945	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT655555	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT622944	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT622943	hsa-miR-1248	HITS-CLIP	23824327
MIRT622942	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT655554	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT655552	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT655553	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT622941	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT622939	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT622945	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT622944	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT622943	hsa-miR-1248	HITS-CLIP	23824327
MIRT622942	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT622941	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT622940	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622939	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT622945	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT622944	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT622943	hsa-miR-1248	HITS-CLIP	23824327
MIRT622942	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT622941	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT622940	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622939	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT341281	hsa-miR-6863	PAR-CLIP	23446348
MIRT341278	hsa-miR-646	PAR-CLIP	23446348
MIRT511011	hsa-miR-494-3p	PAR-CLIP	23446348
MIRT511010	hsa-miR-4261	PAR-CLIP	23446348
MIRT511009	hsa-miR-6721-5p	PAR-CLIP	23446348
MIRT511008	hsa-miR-3672	PAR-CLIP	23446348
MIRT511007	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT511006	hsa-let-7i-3p	PAR-CLIP	23446348
MIRT069657	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT471685	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT471684	hsa-miR-101-5p	PAR-CLIP	23592263
MIRT069667	hsa-miR-6871-5p	PAR-CLIP	23592263
MIRT277974	hsa-miR-922	PAR-CLIP	23592263
MIRT277972	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT277976	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT277973	hsa-miR-761	PAR-CLIP	23592263
MIRT069661	hsa-miR-3127-3p	PAR-CLIP	23592263
MIRT069666	hsa-miR-6756-3p	PAR-CLIP	23592263
MIRT471683	hsa-miR-5193	PAR-CLIP	23592263
MIRT069662	hsa-miR-4320	PAR-CLIP	23592263
MIRT471682	hsa-miR-3115	PAR-CLIP	23592263
MIRT471681	hsa-miR-4291	PAR-CLIP	23592263
MIRT471680	hsa-miR-4713-5p	PAR-CLIP	23592263
MIRT471679	hsa-miR-6867-3p	PAR-CLIP	23592263
MIRT069664	hsa-miR-5089-5p	PAR-CLIP	23592263
MIRT069663	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT069658	hsa-miR-629-3p	PAR-CLIP	23592263
MIRT471678	hsa-miR-6757-3p	PAR-CLIP	23592263
MIRT190663	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT190657	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT190664	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT190665	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT190649	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT190662	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT190650	hsa-miR-3179	PAR-CLIP	23592263
MIRT190651	hsa-miR-3202	PAR-CLIP	23592263
MIRT190659	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT190660	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT190654	hsa-miR-4271	PAR-CLIP	23592263
MIRT190658	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT190666	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT190645	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT190653	hsa-miR-2355-5p	PAR-CLIP	23592263
MIRT471676	hsa-miR-3679-3p	PAR-CLIP	23592263
MIRT1209679	hsa-miR-1180	CLIP-seq
MIRT1209680	hsa-miR-1207-5p	CLIP-seq
MIRT1209681	hsa-miR-1226	CLIP-seq
MIRT1209682	hsa-miR-1237	CLIP-seq
MIRT1209683	hsa-miR-1238	CLIP-seq
MIRT1209684	hsa-miR-130a	CLIP-seq
MIRT1209685	hsa-miR-130b	CLIP-seq
MIRT1209686	hsa-miR-144	CLIP-seq
MIRT1209687	hsa-miR-151-5p	CLIP-seq
MIRT1209688	hsa-miR-1913	CLIP-seq
MIRT1209689	hsa-miR-1915	CLIP-seq
MIRT1209690	hsa-miR-196a	CLIP-seq
MIRT1209691	hsa-miR-196b	CLIP-seq
MIRT1209692	hsa-miR-214	CLIP-seq
MIRT1209693	hsa-miR-2861	CLIP-seq
MIRT1209694	hsa-miR-301a	CLIP-seq
MIRT1209695	hsa-miR-301b	CLIP-seq
MIRT1209696	hsa-miR-3121-3p	CLIP-seq
MIRT1209697	hsa-miR-3183	CLIP-seq
MIRT1209698	hsa-miR-3184	CLIP-seq
MIRT1209699	hsa-miR-3189-5p	CLIP-seq
MIRT1209700	hsa-miR-3192	CLIP-seq
MIRT1209701	hsa-miR-324-3p	CLIP-seq
MIRT1209702	hsa-miR-3529	CLIP-seq
MIRT1209703	hsa-miR-3666	CLIP-seq
MIRT1209704	hsa-miR-3667-3p	CLIP-seq
MIRT1209705	hsa-miR-3692	CLIP-seq
MIRT1209706	hsa-miR-379	CLIP-seq
MIRT1209707	hsa-miR-423-5p	CLIP-seq
MIRT1209708	hsa-miR-4270	CLIP-seq
MIRT1209709	hsa-miR-4286	CLIP-seq
MIRT1209710	hsa-miR-4292	CLIP-seq
MIRT1209711	hsa-miR-4295	CLIP-seq
MIRT1209712	hsa-miR-4297	CLIP-seq
MIRT1209713	hsa-miR-4300	CLIP-seq
MIRT1209714	hsa-miR-4308	CLIP-seq
MIRT1209715	hsa-miR-4441	CLIP-seq
MIRT1209716	hsa-miR-4514	CLIP-seq
MIRT1209717	hsa-miR-4520a-3p	CLIP-seq
MIRT1209718	hsa-miR-4536	CLIP-seq
MIRT1209719	hsa-miR-454	CLIP-seq
MIRT1209720	hsa-miR-4645-5p	CLIP-seq
MIRT1209721	hsa-miR-4671-3p	CLIP-seq
MIRT1209722	hsa-miR-4673	CLIP-seq
MIRT1209723	hsa-miR-4683	CLIP-seq
MIRT1209724	hsa-miR-4688	CLIP-seq
MIRT1209725	hsa-miR-4690-5p	CLIP-seq
MIRT1209726	hsa-miR-4692	CLIP-seq
MIRT1209727	hsa-miR-4723-3p	CLIP-seq
MIRT1209728	hsa-miR-4733-3p	CLIP-seq
MIRT1209729	hsa-miR-4742-5p	CLIP-seq
MIRT1209730	hsa-miR-4758-3p	CLIP-seq
MIRT1209731	hsa-miR-4763-3p	CLIP-seq
MIRT1209732	hsa-miR-4773	CLIP-seq
MIRT1209733	hsa-miR-486-3p	CLIP-seq
MIRT1209734	hsa-miR-488	CLIP-seq
MIRT1209735	hsa-miR-516b	CLIP-seq
MIRT1209736	hsa-miR-518a-5p	CLIP-seq
MIRT1209737	hsa-miR-527	CLIP-seq
MIRT1209738	hsa-miR-548ag	CLIP-seq
MIRT1209739	hsa-miR-548ai	CLIP-seq
MIRT1209740	hsa-miR-548v	CLIP-seq
MIRT1209741	hsa-miR-624	CLIP-seq
MIRT1209742	hsa-miR-625	CLIP-seq
MIRT1209743	hsa-miR-920	CLIP-seq
MIRT1209744	hsa-miR-940	CLIP-seq
MIRT1209686	hsa-miR-144	CLIP-seq
MIRT2060137	hsa-miR-1470	CLIP-seq
MIRT1209705	hsa-miR-3692	CLIP-seq
MIRT1209716	hsa-miR-4514	CLIP-seq
MIRT1209717	hsa-miR-4520a-3p	CLIP-seq
MIRT2060138	hsa-miR-4667-3p	CLIP-seq
MIRT1209725	hsa-miR-4690-5p	CLIP-seq
MIRT1209726	hsa-miR-4692	CLIP-seq
MIRT1209744	hsa-miR-940	CLIP-seq
MIRT1209679	hsa-miR-1180	CLIP-seq
MIRT1209680	hsa-miR-1207-5p	CLIP-seq
MIRT1209681	hsa-miR-1226	CLIP-seq
MIRT2288528	hsa-miR-139-3p	CLIP-seq
MIRT2060137	hsa-miR-1470	CLIP-seq
MIRT1209687	hsa-miR-151-5p	CLIP-seq
MIRT1209688	hsa-miR-1913	CLIP-seq
MIRT1209692	hsa-miR-214	CLIP-seq
MIRT1209693	hsa-miR-2861	CLIP-seq
MIRT1209696	hsa-miR-3121-3p	CLIP-seq
MIRT2288529	hsa-miR-3151	CLIP-seq
MIRT1209698	hsa-miR-3184	CLIP-seq
MIRT1209699	hsa-miR-3189-5p	CLIP-seq
MIRT1209700	hsa-miR-3192	CLIP-seq
MIRT1209701	hsa-miR-324-3p	CLIP-seq
MIRT2288530	hsa-miR-329	CLIP-seq
MIRT2288531	hsa-miR-330-3p	CLIP-seq
MIRT1209702	hsa-miR-3529	CLIP-seq
MIRT2288532	hsa-miR-3616-5p	CLIP-seq
MIRT2288533	hsa-miR-362-3p	CLIP-seq
MIRT2288534	hsa-miR-3647-5p	CLIP-seq
MIRT2288535	hsa-miR-374c	CLIP-seq
MIRT1209706	hsa-miR-379	CLIP-seq
MIRT2288536	hsa-miR-3941	CLIP-seq
MIRT2288537	hsa-miR-3943	CLIP-seq
MIRT1209707	hsa-miR-423-5p	CLIP-seq
MIRT1209708	hsa-miR-4270	CLIP-seq
MIRT2288538	hsa-miR-4279	CLIP-seq
MIRT1209709	hsa-miR-4286	CLIP-seq
MIRT1209710	hsa-miR-4292	CLIP-seq
MIRT1209712	hsa-miR-4297	CLIP-seq
MIRT1209713	hsa-miR-4300	CLIP-seq
MIRT1209714	hsa-miR-4308	CLIP-seq
MIRT2288539	hsa-miR-4313	CLIP-seq
MIRT1209715	hsa-miR-4441	CLIP-seq
MIRT1209716	hsa-miR-4514	CLIP-seq
MIRT1209717	hsa-miR-4520a-3p	CLIP-seq
MIRT1209718	hsa-miR-4536	CLIP-seq
MIRT1209720	hsa-miR-4645-5p	CLIP-seq
MIRT2060138	hsa-miR-4667-3p	CLIP-seq
MIRT1209722	hsa-miR-4673	CLIP-seq
MIRT1209723	hsa-miR-4683	CLIP-seq
MIRT1209724	hsa-miR-4688	CLIP-seq
MIRT1209725	hsa-miR-4690-5p	CLIP-seq
MIRT1209726	hsa-miR-4692	CLIP-seq
MIRT1209728	hsa-miR-4733-3p	CLIP-seq
MIRT1209729	hsa-miR-4742-5p	CLIP-seq
MIRT1209730	hsa-miR-4758-3p	CLIP-seq
MIRT1209731	hsa-miR-4763-3p	CLIP-seq
MIRT1209732	hsa-miR-4773	CLIP-seq
MIRT2288540	hsa-miR-4795-5p	CLIP-seq
MIRT1209733	hsa-miR-486-3p	CLIP-seq
MIRT1209734	hsa-miR-488	CLIP-seq
MIRT2288541	hsa-miR-494	CLIP-seq
MIRT1209735	hsa-miR-516b	CLIP-seq
MIRT1209736	hsa-miR-518a-5p	CLIP-seq
MIRT1209737	hsa-miR-527	CLIP-seq
MIRT1209738	hsa-miR-548ag	CLIP-seq
MIRT1209739	hsa-miR-548ai	CLIP-seq
MIRT1209740	hsa-miR-548v	CLIP-seq
MIRT2288542	hsa-miR-573	CLIP-seq
MIRT2288543	hsa-miR-603	CLIP-seq
MIRT2288544	hsa-miR-655	CLIP-seq
MIRT2288545	hsa-miR-664	CLIP-seq
MIRT2288546	hsa-miR-759	CLIP-seq
MIRT1209743	hsa-miR-920	CLIP-seq
MIRT1209744	hsa-miR-940	CLIP-seq
MIRT1209680	hsa-miR-1207-5p	CLIP-seq
MIRT1209731	hsa-miR-4763-3p	CLIP-seq
MIRT1209733	hsa-miR-486-3p	CLIP-seq
MIRT1209732	hsa-miR-4773	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	ISS
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	TAS	9462747
GO:0005515	Function	Protein binding	IPI	11371506, 15169763, 19515850, 20467437, 23665581, 23788676, 27871484
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19364924, 27209344
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006396	Process	RNA processing	TAS	9462747
GO:0006397	Process	MRNA processing	IEA
GO:0006936	Process	Muscle contraction	TAS	9462747
GO:0008143	Function	Poly(A) binding	IBA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0016973	Process	Poly(A)+ mRNA export from nucleus	IMP	19364924
GO:0042405	Component	Nuclear inclusion body	IDA	27209344
GO:0042405	Component	Nuclear inclusion body	IEA
GO:0070063	Function	RNA polymerase binding	ISS
GO:0071222	Process	Cellular response to lipopolysaccharide	ISS
GO:1904247	Process	Positive regulation of polynucleotide adenylyltransferase activity	ISS
GO:1990904	Component	Ribonucleoprotein complex	IDA	17289661

MIM	HGNC	e!Ensembl
602279	8565	ENSG00000100836

Q86U42

Protein name

Polyadenylate-binding protein 2 (PABP-2) (Poly(A)-binding protein 2) (Nuclear poly(A)-binding protein 1) (Poly(A)-binding protein II) (PABII) (Polyadenylate-binding nuclear protein 1)

Protein function

Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail e

PDB

3B4D , 3B4M , 3UCG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	174 → 243	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MAAAAAAAAAAGAAGGRGSGPGRRRHLVPGAGGEAGEGAPGGAGDYGNGLESEELEPEEL
LLEPEPEPEPEEEPPRPRAPPGAPGPGPGSGAPGSQEEEEEPGLVEGDPGDGAIEDPELE
AIKARVREMEEEAEKLKELQNEVEKQMNMSPPPGNAGPVIMSIEEKMEADARSIYVGNVD
YGATAEELEAHFHGCGSVNRVTILCDKFSGHPKGFAYIEFSDKESVRTSLALDESLFRGR
QIKVIPKRTNRPGISTTDRGFPRARYRARTTNYNSSRSRFYSGFNSRPRGRVYRGRARAT
SWYSPY

Sequence length

306

Interactions

View interactions

	KEGG		Reactome
	mRNA surveillance pathway Influenza A		Inhibition of Host mRNA Processing and RNA Silencing mRNA Splicing - Major Pathway mRNA 3'-end processing RNA Polymerase II Transcription Termination Processing of Intronless Pre-mRNAs

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Oculopharyngeal muscular dystrophy	Likely pathogenic; Pathogenic	rs193922941, rs1594987281	RCV000851331 RCV001784791 RCV000989181	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculopharyngeal muscular dystrophy 1	Likely pathogenic; Pathogenic	rs193922941, rs1337792814, rs1888252890	RCV004017579 RCV005006045 RCV004576882 RCV005630404 RCV005630270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
PABPN1-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	32929364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	26130692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	15725589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32929364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32929364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	LHGDN	15725589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	24310666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	27209344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	37478905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	30657779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	31116999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31116999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27854203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	33077830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	28977530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Oculopharyngeal	Oculopharyngeal muscular dystrophy	Pubtator	15377709, 16101680, 16648376, 17229142, 20184794, 21089175, 21647273, 21818414, 22898142, 24310666, 24449978, 25896913, 26267866, 27854203, 28011929 View all (7 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	BEFREE	10508991, 10680791, 10711989, 10734263, 10838245, 11003790, 11079546, 11079550, 11087766, 11150975, 11222452, 11371506, 11595511, 11689481, 11712939 View all (76 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	CTD_human_DG	12823221, 16239242, 25728001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	LHGDN	16101680, 17005403, 17229142, 18175083, 18178579, 18577936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10734263, 25903302, 27152426, 27209344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24975429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	17103222, 21316245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24975429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	27732723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculopharyngeal muscular dystrophy	Oculopharyngeal Muscular Dystrophy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculopharyngodistal Myopathy	Oculopharyngodistal myopathy	Pubtator	15377709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	30657779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	27209344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32255771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	27209344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38244911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32929364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28080204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PABPN1 (poly(A) binding protein nuclear 1)