NAB1 (NGFI-A binding protein 1)

Gene

• Entrez ID: 4664
• Gene name: NGFI-A binding protein 1
• Gene symbol: NAB1
• Synonyms (NCBI Gene): -
• Chromosome: 2
• Chromosome location: 2q32.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018222	hsa-miR-335-5p	Microarray	18185580
MIRT023860	hsa-miR-1-3p	Microarray	18668037
MIRT024468	hsa-miR-215-5p	Microarray	19074876
MIRT026655	hsa-miR-192-5p	Microarray	19074876
MIRT051328	hsa-miR-15a-5p	CLASH	23622248
MIRT049692	hsa-miR-92a-3p	CLASH	23622248
MIRT046419	hsa-miR-15b-5p	CLASH	23622248
MIRT1172369	hsa-let-7a	CLIP-seq
MIRT1172370	hsa-let-7b	CLIP-seq
MIRT1172371	hsa-let-7c	CLIP-seq
MIRT1172372	hsa-let-7d	CLIP-seq
MIRT1172373	hsa-let-7e	CLIP-seq
MIRT1172374	hsa-let-7f	CLIP-seq
MIRT1172375	hsa-let-7g	CLIP-seq
MIRT1172376	hsa-let-7i	CLIP-seq
MIRT1172377	hsa-miR-1	CLIP-seq
MIRT1172378	hsa-miR-1205	CLIP-seq
MIRT1172379	hsa-miR-1224-3p	CLIP-seq
MIRT1172380	hsa-miR-1257	CLIP-seq
MIRT1172381	hsa-miR-1260	CLIP-seq
MIRT1172382	hsa-miR-1260b	CLIP-seq
MIRT1172383	hsa-miR-1269	CLIP-seq
MIRT1172384	hsa-miR-1269b	CLIP-seq
MIRT1172385	hsa-miR-1272	CLIP-seq
MIRT1172386	hsa-miR-1280	CLIP-seq
MIRT1172387	hsa-miR-1293	CLIP-seq
MIRT1172388	hsa-miR-1294	CLIP-seq
MIRT1172389	hsa-miR-1297	CLIP-seq
MIRT1172390	hsa-miR-1322	CLIP-seq
MIRT1172391	hsa-miR-135a	CLIP-seq
MIRT1172392	hsa-miR-135b	CLIP-seq
MIRT1172393	hsa-miR-137	CLIP-seq
MIRT1172394	hsa-miR-141	CLIP-seq
MIRT1172395	hsa-miR-181a	CLIP-seq
MIRT1172396	hsa-miR-181b	CLIP-seq
MIRT1172397	hsa-miR-181c	CLIP-seq
MIRT1172398	hsa-miR-181d	CLIP-seq
MIRT1172399	hsa-miR-1825	CLIP-seq
MIRT1172400	hsa-miR-1827	CLIP-seq
MIRT1172401	hsa-miR-192	CLIP-seq
MIRT1172402	hsa-miR-200a	CLIP-seq
MIRT1172403	hsa-miR-200b	CLIP-seq
MIRT1172404	hsa-miR-200c	CLIP-seq
MIRT1172405	hsa-miR-202	CLIP-seq
MIRT1172406	hsa-miR-2054	CLIP-seq
MIRT1172407	hsa-miR-206	CLIP-seq
MIRT1172408	hsa-miR-2113	CLIP-seq
MIRT1172409	hsa-miR-2117	CLIP-seq
MIRT1172410	hsa-miR-215	CLIP-seq
MIRT1172411	hsa-miR-217	CLIP-seq
MIRT1172412	hsa-miR-219-5p	CLIP-seq
MIRT1172413	hsa-miR-26a	CLIP-seq
MIRT1172414	hsa-miR-26b	CLIP-seq
MIRT1172415	hsa-miR-3064-3p	CLIP-seq
MIRT1172416	hsa-miR-3065-5p	CLIP-seq
MIRT1172417	hsa-miR-3134	CLIP-seq
MIRT1172418	hsa-miR-3160-3p	CLIP-seq
MIRT1172419	hsa-miR-3160-5p	CLIP-seq
MIRT1172420	hsa-miR-3617	CLIP-seq
MIRT1172421	hsa-miR-362-5p	CLIP-seq
MIRT1172422	hsa-miR-3652	CLIP-seq
MIRT1172423	hsa-miR-3653	CLIP-seq
MIRT1172424	hsa-miR-3658	CLIP-seq
MIRT1172425	hsa-miR-3682-5p	CLIP-seq
MIRT1172426	hsa-miR-3691-5p	CLIP-seq
MIRT1172427	hsa-miR-3941	CLIP-seq
MIRT1172428	hsa-miR-3942-5p	CLIP-seq
MIRT1172429	hsa-miR-4262	CLIP-seq
MIRT1172430	hsa-miR-4276	CLIP-seq
MIRT1172431	hsa-miR-4281	CLIP-seq
MIRT1172432	hsa-miR-4282	CLIP-seq
MIRT1172433	hsa-miR-429	CLIP-seq
MIRT1172434	hsa-miR-4315	CLIP-seq
MIRT1172435	hsa-miR-4316	CLIP-seq
MIRT1172436	hsa-miR-4317	CLIP-seq
MIRT1172437	hsa-miR-4418	CLIP-seq
MIRT1172438	hsa-miR-4430	CLIP-seq
MIRT1172439	hsa-miR-4445	CLIP-seq
MIRT1172440	hsa-miR-4458	CLIP-seq
MIRT1172441	hsa-miR-4465	CLIP-seq
MIRT1172442	hsa-miR-4474-3p	CLIP-seq
MIRT1172443	hsa-miR-4477a	CLIP-seq
MIRT1172444	hsa-miR-4483	CLIP-seq
MIRT1172445	hsa-miR-4487	CLIP-seq
MIRT1172446	hsa-miR-4491	CLIP-seq
MIRT1172447	hsa-miR-4500	CLIP-seq
MIRT1172448	hsa-miR-4502	CLIP-seq
MIRT1172449	hsa-miR-4505	CLIP-seq
MIRT1172450	hsa-miR-4514	CLIP-seq
MIRT1172451	hsa-miR-452	CLIP-seq
MIRT1172452	hsa-miR-4529-3p	CLIP-seq
MIRT1172453	hsa-miR-4534	CLIP-seq
MIRT1172454	hsa-miR-4635	CLIP-seq
MIRT1172455	hsa-miR-4637	CLIP-seq
MIRT1172456	hsa-miR-4657	CLIP-seq
MIRT1172457	hsa-miR-466	CLIP-seq
MIRT1172458	hsa-miR-4662a-3p	CLIP-seq
MIRT1172459	hsa-miR-4672	CLIP-seq
MIRT1172460	hsa-miR-4676-3p	CLIP-seq
MIRT1172461	hsa-miR-4684-3p	CLIP-seq
MIRT1172462	hsa-miR-4687-3p	CLIP-seq
MIRT1172463	hsa-miR-4692	CLIP-seq
MIRT1172464	hsa-miR-4693-5p	CLIP-seq
MIRT1172465	hsa-miR-4703-5p	CLIP-seq
MIRT1172466	hsa-miR-4708-3p	CLIP-seq
MIRT1172467	hsa-miR-4709-3p	CLIP-seq
MIRT1172468	hsa-miR-4711-5p	CLIP-seq
MIRT1172469	hsa-miR-4714-3p	CLIP-seq
MIRT1172470	hsa-miR-4715-3p	CLIP-seq
MIRT1172471	hsa-miR-4719	CLIP-seq
MIRT1172472	hsa-miR-4731-3p	CLIP-seq
MIRT1172473	hsa-miR-4747-5p	CLIP-seq
MIRT1172474	hsa-miR-4752	CLIP-seq
MIRT1172475	hsa-miR-4753-3p	CLIP-seq
MIRT1172476	hsa-miR-4768-5p	CLIP-seq
MIRT1172477	hsa-miR-4778-3p	CLIP-seq
MIRT1172478	hsa-miR-4780	CLIP-seq
MIRT1172479	hsa-miR-4782-3p	CLIP-seq
MIRT1172480	hsa-miR-4799-5p	CLIP-seq
MIRT1172481	hsa-miR-4801	CLIP-seq
MIRT1172482	hsa-miR-496	CLIP-seq
MIRT1172483	hsa-miR-498	CLIP-seq
MIRT1172484	hsa-miR-500b	CLIP-seq
MIRT1172485	hsa-miR-501-5p	CLIP-seq
MIRT1172486	hsa-miR-508-3p	CLIP-seq
MIRT1172487	hsa-miR-509-3-5p	CLIP-seq
MIRT1172488	hsa-miR-509-5p	CLIP-seq
MIRT1172489	hsa-miR-5096	CLIP-seq
MIRT1172490	hsa-miR-513a-3p	CLIP-seq
MIRT1172491	hsa-miR-513b	CLIP-seq
MIRT1172492	hsa-miR-519a	CLIP-seq
MIRT1172493	hsa-miR-519b-3p	CLIP-seq
MIRT1172494	hsa-miR-519c-3p	CLIP-seq
MIRT1172495	hsa-miR-548p	CLIP-seq
MIRT1172496	hsa-miR-558	CLIP-seq
MIRT1172497	hsa-miR-576-3p	CLIP-seq
MIRT1172498	hsa-miR-587	CLIP-seq
MIRT1172499	hsa-miR-613	CLIP-seq
MIRT1172500	hsa-miR-621	CLIP-seq
MIRT1172501	hsa-miR-623	CLIP-seq
MIRT1172502	hsa-miR-641	CLIP-seq
MIRT1172503	hsa-miR-647	CLIP-seq
MIRT1172504	hsa-miR-7	CLIP-seq
MIRT1172505	hsa-miR-758	CLIP-seq
MIRT1172506	hsa-miR-98	CLIP-seq
MIRT2049839	hsa-miR-139-5p	CLIP-seq
MIRT2049840	hsa-miR-148a	CLIP-seq
MIRT2049841	hsa-miR-148b	CLIP-seq
MIRT2049842	hsa-miR-152	CLIP-seq
MIRT2049843	hsa-miR-194	CLIP-seq
MIRT1172416	hsa-miR-3065-5p	CLIP-seq
MIRT1172419	hsa-miR-3160-5p	CLIP-seq
MIRT2049844	hsa-miR-3166	CLIP-seq
MIRT2049845	hsa-miR-34c-3p	CLIP-seq
MIRT1172423	hsa-miR-3653	CLIP-seq
MIRT2049846	hsa-miR-3660	CLIP-seq
MIRT2049847	hsa-miR-3672	CLIP-seq
MIRT2049848	hsa-miR-3692	CLIP-seq
MIRT2049849	hsa-miR-4526	CLIP-seq
MIRT1172461	hsa-miR-4684-3p	CLIP-seq
MIRT1172466	hsa-miR-4708-3p	CLIP-seq
MIRT1172469	hsa-miR-4714-3p	CLIP-seq
MIRT2049850	hsa-miR-4714-5p	CLIP-seq
MIRT2049851	hsa-miR-4771	CLIP-seq
MIRT1172480	hsa-miR-4799-5p	CLIP-seq
MIRT1172489	hsa-miR-5096	CLIP-seq
MIRT1172491	hsa-miR-513b	CLIP-seq
MIRT1172500	hsa-miR-621	CLIP-seq
MIRT1172379	hsa-miR-1224-3p	CLIP-seq
MIRT1172381	hsa-miR-1260	CLIP-seq
MIRT1172382	hsa-miR-1260b	CLIP-seq
MIRT1172386	hsa-miR-1280	CLIP-seq
MIRT2278837	hsa-miR-1343	CLIP-seq
MIRT2278838	hsa-miR-1910	CLIP-seq
MIRT2278839	hsa-miR-2278	CLIP-seq
MIRT1172416	hsa-miR-3065-5p	CLIP-seq
MIRT2278840	hsa-miR-3138	CLIP-seq
MIRT1172423	hsa-miR-3653	CLIP-seq
MIRT2049848	hsa-miR-3692	CLIP-seq
MIRT1172427	hsa-miR-3941	CLIP-seq
MIRT1172430	hsa-miR-4276	CLIP-seq
MIRT1172454	hsa-miR-4635	CLIP-seq
MIRT1172461	hsa-miR-4684-3p	CLIP-seq
MIRT1172466	hsa-miR-4708-3p	CLIP-seq
MIRT1172467	hsa-miR-4709-3p	CLIP-seq
MIRT1172469	hsa-miR-4714-3p	CLIP-seq
MIRT1172471	hsa-miR-4719	CLIP-seq
MIRT1172477	hsa-miR-4778-3p	CLIP-seq
MIRT2278841	hsa-miR-494	CLIP-seq
MIRT2278842	hsa-miR-518d-5p	CLIP-seq
MIRT1172492	hsa-miR-519a	CLIP-seq
MIRT1172493	hsa-miR-519b-3p	CLIP-seq
MIRT2278843	hsa-miR-519b-5p	CLIP-seq
MIRT1172494	hsa-miR-519c-3p	CLIP-seq
MIRT2278844	hsa-miR-519c-5p	CLIP-seq
MIRT2278845	hsa-miR-520c-5p	CLIP-seq
MIRT2278846	hsa-miR-526a	CLIP-seq
MIRT1172495	hsa-miR-548p	CLIP-seq
MIRT2278847	hsa-miR-562	CLIP-seq
MIRT1172500	hsa-miR-621	CLIP-seq
MIRT1172498	hsa-miR-587	CLIP-seq
MIRT2049843	hsa-miR-194	CLIP-seq
MIRT2431468	hsa-miR-3591-5p	CLIP-seq
MIRT2431469	hsa-miR-4280	CLIP-seq
MIRT2431470	hsa-miR-590-3p	CLIP-seq
MIRT2431471	hsa-miR-889	CLIP-seq
MIRT2049839	hsa-miR-139-5p	CLIP-seq
MIRT2049840	hsa-miR-148a	CLIP-seq
MIRT2049841	hsa-miR-148b	CLIP-seq
MIRT2049842	hsa-miR-152	CLIP-seq
MIRT2049843	hsa-miR-194	CLIP-seq
MIRT2438835	hsa-miR-3143	CLIP-seq
MIRT2049844	hsa-miR-3166	CLIP-seq
MIRT2431468	hsa-miR-3591-5p	CLIP-seq
MIRT2049847	hsa-miR-3672	CLIP-seq
MIRT2431469	hsa-miR-4280	CLIP-seq
MIRT2049851	hsa-miR-4771	CLIP-seq
MIRT2438836	hsa-miR-543	CLIP-seq
MIRT2431470	hsa-miR-590-3p	CLIP-seq
MIRT1172503	hsa-miR-647	CLIP-seq
MIRT2454816	hsa-miR-3121-3p	CLIP-seq
MIRT2454817	hsa-miR-4698	CLIP-seq
MIRT2454818	hsa-miR-607	CLIP-seq
MIRT1172389	hsa-miR-1297	CLIP-seq
MIRT2049843	hsa-miR-194	CLIP-seq
MIRT2577083	hsa-miR-216a	CLIP-seq
MIRT1172411	hsa-miR-217	CLIP-seq
MIRT2577084	hsa-miR-223	CLIP-seq
MIRT2278839	hsa-miR-2278	CLIP-seq
MIRT1172413	hsa-miR-26a	CLIP-seq
MIRT1172414	hsa-miR-26b	CLIP-seq
MIRT1172416	hsa-miR-3065-5p	CLIP-seq
MIRT2577085	hsa-miR-3126-3p	CLIP-seq
MIRT2577086	hsa-miR-3137	CLIP-seq
MIRT2577087	hsa-miR-320a	CLIP-seq
MIRT2577088	hsa-miR-320b	CLIP-seq
MIRT2577089	hsa-miR-320c	CLIP-seq
MIRT2577090	hsa-miR-320d	CLIP-seq
MIRT2431468	hsa-miR-3591-5p	CLIP-seq
MIRT2577091	hsa-miR-3613-3p	CLIP-seq
MIRT1172423	hsa-miR-3653	CLIP-seq
MIRT1172424	hsa-miR-3658	CLIP-seq
MIRT2577092	hsa-miR-371-5p	CLIP-seq
MIRT2577093	hsa-miR-371b-5p	CLIP-seq
MIRT2577094	hsa-miR-3973	CLIP-seq
MIRT2577095	hsa-miR-411	CLIP-seq
MIRT2577096	hsa-miR-4264	CLIP-seq
MIRT2431469	hsa-miR-4280	CLIP-seq
MIRT1172432	hsa-miR-4282	CLIP-seq
MIRT2577097	hsa-miR-4429	CLIP-seq
MIRT1172441	hsa-miR-4465	CLIP-seq
MIRT2577098	hsa-miR-4468	CLIP-seq
MIRT2577099	hsa-miR-4476	CLIP-seq
MIRT2577100	hsa-miR-4697-3p	CLIP-seq
MIRT2577101	hsa-miR-4699-3p	CLIP-seq
MIRT2577102	hsa-miR-4760-5p	CLIP-seq
MIRT2577103	hsa-miR-4789-3p	CLIP-seq
MIRT2577104	hsa-miR-4797-3p	CLIP-seq
MIRT1172483	hsa-miR-498	CLIP-seq
MIRT1172490	hsa-miR-513a-3p	CLIP-seq
MIRT2278842	hsa-miR-518d-5p	CLIP-seq
MIRT2278843	hsa-miR-519b-5p	CLIP-seq
MIRT2278844	hsa-miR-519c-5p	CLIP-seq
MIRT2278845	hsa-miR-520c-5p	CLIP-seq
MIRT2278846	hsa-miR-526a	CLIP-seq
MIRT2577105	hsa-miR-548a-3p	CLIP-seq
MIRT2577106	hsa-miR-548ac	CLIP-seq
MIRT2577107	hsa-miR-548ae	CLIP-seq
MIRT2577108	hsa-miR-548aj	CLIP-seq
MIRT2577109	hsa-miR-548am	CLIP-seq
MIRT2577110	hsa-miR-548d-3p	CLIP-seq
MIRT2577111	hsa-miR-548e	CLIP-seq
MIRT2577112	hsa-miR-548f	CLIP-seq
MIRT2577113	hsa-miR-548g	CLIP-seq
MIRT2577114	hsa-miR-548x	CLIP-seq
MIRT2577115	hsa-miR-548z	CLIP-seq
MIRT2431470	hsa-miR-590-3p	CLIP-seq
MIRT2577116	hsa-miR-600	CLIP-seq
MIRT2577117	hsa-miR-629	CLIP-seq
MIRT2577118	hsa-miR-759	CLIP-seq
MIRT2431471	hsa-miR-889	CLIP-seq
MIRT2577119	hsa-miR-935	CLIP-seq
MIRT2577120	hsa-miR-942	CLIP-seq
MIRT1172389	hsa-miR-1297	CLIP-seq
MIRT2049843	hsa-miR-194	CLIP-seq
MIRT1172411	hsa-miR-217	CLIP-seq
MIRT2278839	hsa-miR-2278	CLIP-seq
MIRT1172413	hsa-miR-26a	CLIP-seq
MIRT1172414	hsa-miR-26b	CLIP-seq
MIRT1172416	hsa-miR-3065-5p	CLIP-seq
MIRT2577085	hsa-miR-3126-3p	CLIP-seq
MIRT2577086	hsa-miR-3137	CLIP-seq
MIRT2431468	hsa-miR-3591-5p	CLIP-seq
MIRT2577091	hsa-miR-3613-3p	CLIP-seq
MIRT1172423	hsa-miR-3653	CLIP-seq
MIRT1172424	hsa-miR-3658	CLIP-seq
MIRT2685727	hsa-miR-3684	CLIP-seq
MIRT2685728	hsa-miR-3713	CLIP-seq
MIRT2685729	hsa-miR-374c	CLIP-seq
MIRT2577094	hsa-miR-3973	CLIP-seq
MIRT2577095	hsa-miR-411	CLIP-seq
MIRT2577096	hsa-miR-4264	CLIP-seq
MIRT2431469	hsa-miR-4280	CLIP-seq
MIRT1172432	hsa-miR-4282	CLIP-seq
MIRT1172441	hsa-miR-4465	CLIP-seq
MIRT2577098	hsa-miR-4468	CLIP-seq
MIRT2577099	hsa-miR-4476	CLIP-seq
MIRT2685730	hsa-miR-4666-3p	CLIP-seq
MIRT2577101	hsa-miR-4699-3p	CLIP-seq
MIRT2577102	hsa-miR-4760-5p	CLIP-seq
MIRT2577104	hsa-miR-4797-3p	CLIP-seq
MIRT2278841	hsa-miR-494	CLIP-seq
MIRT1172483	hsa-miR-498	CLIP-seq
MIRT1172490	hsa-miR-513a-3p	CLIP-seq
MIRT2278842	hsa-miR-518d-5p	CLIP-seq
MIRT2278843	hsa-miR-519b-5p	CLIP-seq
MIRT2278844	hsa-miR-519c-5p	CLIP-seq
MIRT2278845	hsa-miR-520c-5p	CLIP-seq
MIRT2278846	hsa-miR-526a	CLIP-seq
MIRT2577105	hsa-miR-548a-3p	CLIP-seq
MIRT2577106	hsa-miR-548ac	CLIP-seq
MIRT2577107	hsa-miR-548ae	CLIP-seq
MIRT2577108	hsa-miR-548aj	CLIP-seq
MIRT2577109	hsa-miR-548am	CLIP-seq
MIRT2577110	hsa-miR-548d-3p	CLIP-seq
MIRT2577111	hsa-miR-548e	CLIP-seq
MIRT2577112	hsa-miR-548f	CLIP-seq
MIRT2577113	hsa-miR-548g	CLIP-seq
MIRT2577114	hsa-miR-548x	CLIP-seq
MIRT2577115	hsa-miR-548z	CLIP-seq
MIRT2278847	hsa-miR-562	CLIP-seq
MIRT2431470	hsa-miR-590-3p	CLIP-seq
MIRT2577117	hsa-miR-629	CLIP-seq
MIRT2685731	hsa-miR-655	CLIP-seq
MIRT2577118	hsa-miR-759	CLIP-seq
MIRT2431471	hsa-miR-889	CLIP-seq
MIRT2577120	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001958	Process	Endochondral ossification	IEA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003712	Function	Transcription coregulator activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	8668170
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	8668170
GO:0014037	Process	Schwann cell differentiation	IEA
GO:0042552	Process	Myelination	IEA
GO:0045682	Process	Regulation of epidermis development	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	NAS	8668170

Other IDs

• MIM: 600800
• HGNC: 7626
• e!Ensembl: ENSG00000138386

Protein

• UniProt ID: Q13506
• Protein name: NGFI-A-binding protein 1 (EGR-1-binding protein 1) (Transcriptional regulatory protein p54)
• Protein function: Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2.
• PDB: 2YUF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04904	NCD1	5 → 83	NAB conserved region 1 (NCD1)	Domain
  PF04905	NCD2	190 → 318	NAB conserved region 2 (NCD2)	Family
  PF04902	Nab1	322 → 486	Conserved region in Nab1	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform Short is found in myeloid leukemia cell line KG-1.
• Sequence:

  MAAALPRTLGELQLYRILQKANLLSYFDAFIQQGGDDVQQLCEAGEEEFLEIMALVGMAS
  KPLHVRRLQKALRDWVTNPGLFNQPLTSLPVSSIPIYKLPEGSPTWLGISCSSYERSSNA
  REPHLKIPKCAATTCVQSLGQGKSDVVGSLALQSVGESRLWQGHHATESEHSLSPADLGS
  PASPKESSEALDAAAALSVAECVERMAPTLPKSDLNEVKELLKTNKKLAKMIGHIFEMND
  DDPHKEEEIRKYSAIYGRFDSKRKDGKHLTLHELTVNEAAAQLCVKDNALLTRRDELFAL
  ARQISREVTYKYTYRTTKSKCGERDELSPKRIKVEDGFPDFQDSVQTLFQQARAKSEELA
  ALSSQQPEKVMAKQMEFLCNQAGYERLQHAERRLSAGLYRQSSEEHSPNGLTSDNSDGQG
  ERPLNLRMPNLQNRQPHHFVVDGELSRLYPSEAKSHSSESLGILKDYPHSAFTLEKKVIK
  TEPEDSR

• Sequence length: 487

Pathways

Reactome:

NGF-stimulated transcription
EGR2 and SOX10-mediated initiation of Schwann cell myelination

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
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Biliary cirrhosis	Biliary cirrhosis	GWASCAT_DG	21399635		★☆☆☆☆ Found in Text Mining only
Congenital hypomyelinating neuropathy	Congenital Hypomyelinating Neuropathy	BEFREE	16136673		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30767193		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29383164		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	37188663	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	12030330		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	21399635		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	21399635, 26394269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35896530	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30767193		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASCAT_DG	31672989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations