MSI2 (musashi RNA binding protein 2)

Gene

• Entrez ID: 124540
• Gene name: Musashi RNA binding protein 2
• Gene symbol: MSI2
• Synonyms (NCBI Gene): MSI2H
• Chromosome: 17
• Chromosome location: 17q22
• Summary: This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001533	hsa-miR-155-5p	pSILAC	18668040
MIRT001533	hsa-miR-155-5p	Western blot	20584899
MIRT042254	hsa-miR-484	CLASH	23622248
MIRT039469	hsa-miR-652-3p	CLASH	23622248
MIRT493077	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT450382	hsa-miR-3163	HITS-CLIP	21572407
MIRT547367	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT547366	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT547362	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT522418	hsa-miR-3924	HITS-CLIP	21572407
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT450382	hsa-miR-3163	PAR-CLIP	21572407
MIRT522418	hsa-miR-3924	PAR-CLIP	21572407
MIRT547380	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT547379	hsa-miR-4458	PAR-CLIP	21572407
MIRT547378	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT547377	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT547376	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT547375	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT547374	hsa-miR-4500	PAR-CLIP	21572407
MIRT547373	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT547372	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT547371	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT547370	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT547369	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT547368	hsa-miR-4678	PAR-CLIP	21572407
MIRT547367	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT547366	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT547365	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT547364	hsa-miR-7162-3p	PAR-CLIP	21572407
MIRT547363	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT547362	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT450382	hsa-miR-3163	PAR-CLIP	21572407
MIRT522418	hsa-miR-3924	PAR-CLIP	21572407
MIRT535846	hsa-miR-28-5p	PAR-CLIP	22012620
MIRT535845	hsa-miR-3139	PAR-CLIP	22012620
MIRT535844	hsa-miR-708-5p	PAR-CLIP	22012620
MIRT535843	hsa-miR-610	PAR-CLIP	22012620
MIRT535842	hsa-miR-1301-5p	PAR-CLIP	22012620
MIRT535841	hsa-miR-6502-5p	PAR-CLIP	22012620
MIRT535840	hsa-miR-4633-3p	PAR-CLIP	22012620
MIRT535839	hsa-miR-6500-5p	PAR-CLIP	22012620
MIRT535838	hsa-miR-676-3p	PAR-CLIP	22012620
MIRT535837	hsa-miR-2355-3p	PAR-CLIP	22012620
MIRT493078	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	22012620
MIRT493076	hsa-miR-8076	PAR-CLIP	22012620
MIRT493075	hsa-miR-3688-3p	PAR-CLIP	22012620
MIRT522420	hsa-miR-4798-3p	PAR-CLIP	23446348
MIRT522419	hsa-miR-3680-5p	PAR-CLIP	23446348
MIRT522418	hsa-miR-3924	PAR-CLIP	23446348
MIRT493078	hsa-miR-338-5p	PAR-CLIP	23592263
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	23592263
MIRT493076	hsa-miR-8076	PAR-CLIP	23592263
MIRT493075	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT450381	hsa-miR-4282	PAR-CLIP	22100165
MIRT450382	hsa-miR-3163	PAR-CLIP	22100165
MIRT450380	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT448668	hsa-miR-4766-5p	PAR-CLIP	22100165
MIRT448667	hsa-miR-1273e	PAR-CLIP	22100165
MIRT448668	hsa-miR-4766-5p	PAR-CLIP	22100165
MIRT448667	hsa-miR-1273e	PAR-CLIP	22100165
MIRT535842	hsa-miR-1301-5p	PAR-CLIP	26701625
MIRT535846	hsa-miR-28-5p	PAR-CLIP	26701625
MIRT535845	hsa-miR-3139	PAR-CLIP	26701625
MIRT493078	hsa-miR-338-5p	PAR-CLIP	26701625
MIRT493078	hsa-miR-338-5p	PAR-CLIP	26701625
MIRT493075	hsa-miR-3688-3p	PAR-CLIP	26701625
MIRT493075	hsa-miR-3688-3p	PAR-CLIP	26701625
MIRT535840	hsa-miR-4633-3p	PAR-CLIP	26701625
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	26701625
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	26701625
MIRT535843	hsa-miR-610	PAR-CLIP	26701625
MIRT535839	hsa-miR-6500-5p	PAR-CLIP	26701625
MIRT535841	hsa-miR-6502-5p	PAR-CLIP	26701625
MIRT535844	hsa-miR-708-5p	PAR-CLIP	26701625
MIRT493076	hsa-miR-8076	PAR-CLIP	26701625
MIRT493076	hsa-miR-8076	PAR-CLIP	26701625
MIRT493078	hsa-miR-338-5p	PAR-CLIP	27292025
MIRT493075	hsa-miR-3688-3p	PAR-CLIP	27292025
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	27292025
MIRT493076	hsa-miR-8076	PAR-CLIP	27292025
MIRT734805	hsa-miR-301a-3p	Western blotting, Immunoprecipitaion (IP), RNA-seq, qRT-PCR	33553241
MIRT738765	hsa-miR-1251	HITS-CLIP	33718276
MIRT738767	hsa-miR-4723-3p	HITS-CLIP	33718276
MIRT738772	hsa-miR-3199	HITS-CLIP	33718276
MIRT493077	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT450382	hsa-miR-3163	HITS-CLIP	21572407
MIRT547367	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT547366	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT547362	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT522418	hsa-miR-3924	HITS-CLIP	21572407
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT450382	hsa-miR-3163	PAR-CLIP	21572407
MIRT522418	hsa-miR-3924	PAR-CLIP	21572407
MIRT547380	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT547379	hsa-miR-4458	PAR-CLIP	21572407
MIRT547378	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT547377	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT547376	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT547375	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT547374	hsa-miR-4500	PAR-CLIP	21572407
MIRT547373	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT547372	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT547371	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT547370	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT547369	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT547368	hsa-miR-4678	PAR-CLIP	21572407
MIRT547367	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT547366	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT547365	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT547364	hsa-miR-7162-3p	PAR-CLIP	21572407
MIRT547363	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT547362	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT450382	hsa-miR-3163	PAR-CLIP	21572407
MIRT522418	hsa-miR-3924	PAR-CLIP	21572407
MIRT535846	hsa-miR-28-5p	PAR-CLIP	22012620
MIRT535845	hsa-miR-3139	PAR-CLIP	22012620
MIRT535844	hsa-miR-708-5p	PAR-CLIP	22012620
MIRT535843	hsa-miR-610	PAR-CLIP	22012620
MIRT535842	hsa-miR-1301-5p	PAR-CLIP	22012620
MIRT535841	hsa-miR-6502-5p	PAR-CLIP	22012620
MIRT535840	hsa-miR-4633-3p	PAR-CLIP	22012620
MIRT535839	hsa-miR-6500-5p	PAR-CLIP	22012620
MIRT535838	hsa-miR-676-3p	PAR-CLIP	22012620
MIRT535837	hsa-miR-2355-3p	PAR-CLIP	22012620
MIRT493078	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	22012620
MIRT493076	hsa-miR-8076	PAR-CLIP	22012620
MIRT493075	hsa-miR-3688-3p	PAR-CLIP	22012620
MIRT522420	hsa-miR-4798-3p	PAR-CLIP	23446348
MIRT522419	hsa-miR-3680-5p	PAR-CLIP	23446348
MIRT522418	hsa-miR-3924	PAR-CLIP	23446348
MIRT493078	hsa-miR-338-5p	PAR-CLIP	23592263
MIRT493077	hsa-miR-5580-3p	PAR-CLIP	23592263
MIRT493076	hsa-miR-8076	PAR-CLIP	23592263
MIRT493075	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT450381	hsa-miR-4282	PAR-CLIP	22100165
MIRT450382	hsa-miR-3163	PAR-CLIP	22100165
MIRT450380	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT448668	hsa-miR-4766-5p	PAR-CLIP	22100165
MIRT448667	hsa-miR-1273e	PAR-CLIP	22100165
MIRT448668	hsa-miR-4766-5p	PAR-CLIP	22100165
MIRT448667	hsa-miR-1273e	PAR-CLIP	22100165
MIRT1161346	hsa-miR-1224-5p	CLIP-seq
MIRT1161347	hsa-miR-1243	CLIP-seq
MIRT1161348	hsa-miR-1254	CLIP-seq
MIRT1161349	hsa-miR-134	CLIP-seq
MIRT1161350	hsa-miR-138	CLIP-seq
MIRT1161351	hsa-miR-224	CLIP-seq
MIRT1161352	hsa-miR-2467-5p	CLIP-seq
MIRT1161353	hsa-miR-3116	CLIP-seq
MIRT1161354	hsa-miR-3118	CLIP-seq
MIRT1161355	hsa-miR-3150a-3p	CLIP-seq
MIRT1161356	hsa-miR-3164	CLIP-seq
MIRT1161357	hsa-miR-3175	CLIP-seq
MIRT1161358	hsa-miR-3188	CLIP-seq
MIRT1161359	hsa-miR-326	CLIP-seq
MIRT1161360	hsa-miR-330-5p	CLIP-seq
MIRT1161361	hsa-miR-34b	CLIP-seq
MIRT1161362	hsa-miR-34c-3p	CLIP-seq
MIRT1161363	hsa-miR-3654	CLIP-seq
MIRT1161364	hsa-miR-3690	CLIP-seq
MIRT1161365	hsa-miR-378	CLIP-seq
MIRT1161366	hsa-miR-378b	CLIP-seq
MIRT1161367	hsa-miR-378c	CLIP-seq
MIRT1161368	hsa-miR-378d	CLIP-seq
MIRT1161369	hsa-miR-378e	CLIP-seq
MIRT1161370	hsa-miR-378f	CLIP-seq
MIRT1161371	hsa-miR-378h	CLIP-seq
MIRT1161372	hsa-miR-378i	CLIP-seq
MIRT1161373	hsa-miR-3913-3p	CLIP-seq
MIRT1161374	hsa-miR-422a	CLIP-seq
MIRT1161375	hsa-miR-431	CLIP-seq
MIRT1161376	hsa-miR-4311	CLIP-seq
MIRT1161377	hsa-miR-4316	CLIP-seq
MIRT1161378	hsa-miR-4425	CLIP-seq
MIRT1161379	hsa-miR-4447	CLIP-seq
MIRT1161380	hsa-miR-4454	CLIP-seq
MIRT1161381	hsa-miR-4456	CLIP-seq
MIRT1161382	hsa-miR-4472	CLIP-seq
MIRT1161383	hsa-miR-4501	CLIP-seq
MIRT1161384	hsa-miR-450b-3p	CLIP-seq
MIRT1161385	hsa-miR-4638-3p	CLIP-seq
MIRT1161386	hsa-miR-4649-3p	CLIP-seq
MIRT1161387	hsa-miR-4671-5p	CLIP-seq
MIRT1161388	hsa-miR-4698	CLIP-seq
MIRT1161389	hsa-miR-4751	CLIP-seq
MIRT1161390	hsa-miR-485-5p	CLIP-seq
MIRT1161391	hsa-miR-499-3p	CLIP-seq
MIRT1161392	hsa-miR-499a-3p	CLIP-seq
MIRT1161393	hsa-miR-541	CLIP-seq
MIRT1161394	hsa-miR-615-5p	CLIP-seq
MIRT1161395	hsa-miR-654-5p	CLIP-seq
MIRT1161396	hsa-miR-661	CLIP-seq
MIRT1161397	hsa-miR-769-3p	CLIP-seq
MIRT1161398	hsa-miR-939	CLIP-seq
MIRT1161399	hsa-miR-1229	CLIP-seq
MIRT1161400	hsa-miR-1255a	CLIP-seq
MIRT1161401	hsa-miR-1255b	CLIP-seq
MIRT1161402	hsa-miR-3065-3p	CLIP-seq
MIRT1161403	hsa-miR-3148	CLIP-seq
MIRT1161404	hsa-miR-342-3p	CLIP-seq
MIRT1161405	hsa-miR-4270	CLIP-seq
MIRT1161406	hsa-miR-4434	CLIP-seq
MIRT1161407	hsa-miR-4441	CLIP-seq
MIRT1161408	hsa-miR-4516	CLIP-seq
MIRT1161409	hsa-miR-4668-5p	CLIP-seq
MIRT1161410	hsa-miR-4719	CLIP-seq
MIRT1161411	hsa-miR-5095	CLIP-seq
MIRT1161412	hsa-miR-548ad	CLIP-seq
MIRT1161413	hsa-miR-598	CLIP-seq
MIRT1161414	hsa-miR-600	CLIP-seq
MIRT1161415	hsa-miR-619	CLIP-seq
MIRT1161416	hsa-miR-634	CLIP-seq
MIRT1161417	hsa-miR-885-3p	CLIP-seq
MIRT1161346	hsa-miR-1224-5p	CLIP-seq
MIRT2046302	hsa-miR-1272	CLIP-seq
MIRT2046303	hsa-miR-1273f	CLIP-seq
MIRT1161350	hsa-miR-138	CLIP-seq
MIRT2046304	hsa-miR-143	CLIP-seq
MIRT1161352	hsa-miR-2467-5p	CLIP-seq
MIRT2046305	hsa-miR-3120-3p	CLIP-seq
MIRT1161355	hsa-miR-3150a-3p	CLIP-seq
MIRT1161357	hsa-miR-3175	CLIP-seq
MIRT1161358	hsa-miR-3188	CLIP-seq
MIRT2046306	hsa-miR-320a	CLIP-seq
MIRT2046307	hsa-miR-320b	CLIP-seq
MIRT2046308	hsa-miR-320c	CLIP-seq
MIRT2046309	hsa-miR-320d	CLIP-seq
MIRT1161359	hsa-miR-326	CLIP-seq
MIRT1161360	hsa-miR-330-5p	CLIP-seq
MIRT1161373	hsa-miR-3913-3p	CLIP-seq
MIRT1161377	hsa-miR-4316	CLIP-seq
MIRT1161378	hsa-miR-4425	CLIP-seq
MIRT2046310	hsa-miR-4429	CLIP-seq
MIRT1161379	hsa-miR-4447	CLIP-seq
MIRT1161380	hsa-miR-4454	CLIP-seq
MIRT1161381	hsa-miR-4456	CLIP-seq
MIRT1161382	hsa-miR-4472	CLIP-seq
MIRT1161384	hsa-miR-450b-3p	CLIP-seq
MIRT1161386	hsa-miR-4649-3p	CLIP-seq
MIRT1161387	hsa-miR-4671-5p	CLIP-seq
MIRT2046311	hsa-miR-4708-5p	CLIP-seq
MIRT1161389	hsa-miR-4751	CLIP-seq
MIRT2046312	hsa-miR-4770	CLIP-seq
MIRT1161390	hsa-miR-485-5p	CLIP-seq
MIRT1161391	hsa-miR-499-3p	CLIP-seq
MIRT1161392	hsa-miR-499a-3p	CLIP-seq
MIRT2046313	hsa-miR-511	CLIP-seq
MIRT1161393	hsa-miR-541	CLIP-seq
MIRT1161394	hsa-miR-615-5p	CLIP-seq
MIRT1161395	hsa-miR-654-5p	CLIP-seq
MIRT2046314	hsa-miR-656	CLIP-seq
MIRT1161397	hsa-miR-769-3p	CLIP-seq
MIRT2046315	hsa-miR-922	CLIP-seq
MIRT1161398	hsa-miR-939	CLIP-seq
MIRT1161346	hsa-miR-1224-5p	CLIP-seq
MIRT1161347	hsa-miR-1243	CLIP-seq
MIRT2046302	hsa-miR-1272	CLIP-seq
MIRT2046303	hsa-miR-1273f	CLIP-seq
MIRT1161350	hsa-miR-138	CLIP-seq
MIRT2046304	hsa-miR-143	CLIP-seq
MIRT1161351	hsa-miR-224	CLIP-seq
MIRT1161352	hsa-miR-2467-5p	CLIP-seq
MIRT2046305	hsa-miR-3120-3p	CLIP-seq
MIRT1161358	hsa-miR-3188	CLIP-seq
MIRT2046306	hsa-miR-320a	CLIP-seq
MIRT2046307	hsa-miR-320b	CLIP-seq
MIRT2046308	hsa-miR-320c	CLIP-seq
MIRT2046309	hsa-miR-320d	CLIP-seq
MIRT1161361	hsa-miR-34b	CLIP-seq
MIRT1161362	hsa-miR-34c-3p	CLIP-seq
MIRT1161363	hsa-miR-3654	CLIP-seq
MIRT1161365	hsa-miR-378	CLIP-seq
MIRT1161366	hsa-miR-378b	CLIP-seq
MIRT1161367	hsa-miR-378c	CLIP-seq
MIRT1161368	hsa-miR-378d	CLIP-seq
MIRT1161369	hsa-miR-378e	CLIP-seq
MIRT1161370	hsa-miR-378f	CLIP-seq
MIRT1161371	hsa-miR-378h	CLIP-seq
MIRT1161372	hsa-miR-378i	CLIP-seq
MIRT1161373	hsa-miR-3913-3p	CLIP-seq
MIRT1161374	hsa-miR-422a	CLIP-seq
MIRT1161377	hsa-miR-4316	CLIP-seq
MIRT2046310	hsa-miR-4429	CLIP-seq
MIRT1161379	hsa-miR-4447	CLIP-seq
MIRT1161381	hsa-miR-4456	CLIP-seq
MIRT1161382	hsa-miR-4472	CLIP-seq
MIRT1161386	hsa-miR-4649-3p	CLIP-seq
MIRT1161388	hsa-miR-4698	CLIP-seq
MIRT2046311	hsa-miR-4708-5p	CLIP-seq
MIRT1161389	hsa-miR-4751	CLIP-seq
MIRT2046312	hsa-miR-4770	CLIP-seq
MIRT1161390	hsa-miR-485-5p	CLIP-seq
MIRT1161391	hsa-miR-499-3p	CLIP-seq
MIRT1161392	hsa-miR-499a-3p	CLIP-seq
MIRT2046313	hsa-miR-511	CLIP-seq
MIRT1161393	hsa-miR-541	CLIP-seq
MIRT1161394	hsa-miR-615-5p	CLIP-seq
MIRT1161395	hsa-miR-654-5p	CLIP-seq
MIRT2046314	hsa-miR-656	CLIP-seq
MIRT2046315	hsa-miR-922	CLIP-seq
MIRT2046302	hsa-miR-1272	CLIP-seq
MIRT2046303	hsa-miR-1273f	CLIP-seq
MIRT2046304	hsa-miR-143	CLIP-seq
MIRT2046311	hsa-miR-4708-5p	CLIP-seq
MIRT2046312	hsa-miR-4770	CLIP-seq
MIRT2046315	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003727	Function	Single-stranded RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 27941885, 30367664, 32296183, 33961781, 35063084, 35271311, 37207277
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006417	Process	Regulation of translation	IBA
GO:0007417	Process	Central nervous system development	IBA
GO:0008266	Function	Poly(U) RNA binding	IEA
GO:0042802	Function	Identical protein binding	IPI	30367664
GO:0048864	Process	Stem cell development	IEA

Other IDs

• MIM: 607897
• HGNC: 18585
• e!Ensembl: ENSG00000153944

Protein

• UniProt ID: Q96DH6
• Protein name: RNA-binding protein Musashi homolog 2 (Musashi-2)
• Protein function: RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity).
• PDB: 6C8U, 6DBP, 6NTY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	23 → 92	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	112 → 181	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous; detected at low levels. {ECO:0000269|PubMed:12649177}.
• Sequence:

  MEANGSQGTSGSANDSQHDPGKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKR
  SRGFGFVTFADPASVDKVLGQPHHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSAN
  TVVEDVKQYFEQFGKVEDAMLMFDKTTNRHRGFGFVTFENEDVVEKVCEIHFHEINNKMV
  ECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGMGMLGYPNFVATYGRGYPGFAPSYGYQ
  FPGFPAAAYGPVAAAAVAAARGSGSNPARPGGFPGANSPGPVADLYGPASQDSGVGNYIS
  AASPQPGSGFGHGIAGPLIATAFTNGYH

• Sequence length: 328

Pathways

KEGG:

mRNA surveillance pathway

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL NEOVASCULARIZATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23759245, 25090928, 30126842		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27281208		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31253395		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	29115587		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27449499		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27322953, 30419948, 31066120		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	20639863, 28107692, 28514443		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27593929, 27941885, 30718918		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27941885, 35589867	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24305552	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27322953, 30419948, 31066120		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23683495		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27600258		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29073938, 29556294		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29073938, 29556294		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	26639245		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30097032, 30604502		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26775684, 30604502, 32828126, 34237057, 40302097	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28542303		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28542303		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28542303	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28542303	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28542303		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	29115587		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	23190410	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	35269992	Associate	★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30034243		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31250154		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34047477	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31250154		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34047477	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30854035		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	37107676	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28542303		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	28542303	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	26673327		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21084860	Stimulate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22517588, 23696360, 27449499, 28436985, 28514443, 30126842		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	29641991, 30126842	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	29641991	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Accelerated Phase	Myeloid leukemia	Pubtator	21084860	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21084860, 21753187, 22784712, 26308531, 30126842, 34862757	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20616797, 22517588, 22784712, 25090928, 26212080, 26308531, 28107692, 30126842, 31217428		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24305552, 27721018		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23683495	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26775684, 40302097	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27322953	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	36167829	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27593929, 27941885, 30718918		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27721018		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23683495		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27600258		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28223335		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31833612		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30854035		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27322953, 30419948, 31066120		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23696360, 27449499, 27593929, 27600258, 27721018, 28143872, 28436985, 30126842, 30367664		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	31053152		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29073938, 29556294		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30097032, 30604502		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22784712		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22784712	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	27721018, 28107692, 28514443		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12649177, 20639863, 25363400, 26944313, 28107692, 30126842		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	35269992	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24002004, 28223335, 29054489, 29073938, 29556294, 30604502, 30854035, 31250154, 31833612		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	32606289	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	27593929		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32633342	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27600258		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31957818, 34768932	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28223335		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32779876	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	23759245, 25090928, 30126842		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31833612		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22294438	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27059221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	28991256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29054489		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31878037	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24002004, 30854035		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35073459	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35102250	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27322953	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29073938	Associate	★☆☆☆☆ Found in Text Mining only