SBF2 (SET binding factor 2)

Gene

• Entrez ID: 81846
• Gene name: SET binding factor 2
• Gene symbol: SBF2
• Synonyms (NCBI Gene): CMT4B2, DENND7B, MTMR13
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs120074138	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs120074139	G>A,T	Likely-benign, uncertain-significance, pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs139967004	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant, non coding transcript variant
rs143773975	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs374841593	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant
rs752649372	T>C	Likely-pathogenic	Splice acceptor variant
rs774667470	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs869312963	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs869312970	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1270869520	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs1554977189	A>G	Pathogenic	Splice donor variant
rs1554990103	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1565115957	CAATAATGAAAGGCGTTGGGGAACTTAGAACTTCCAGTAGCTGAGCCGGGAGAATAGGGATATAAGGATA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1565150234	C>T	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018858	hsa-miR-335-5p	Microarray	18185580
MIRT726650	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT726649	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1326804	hsa-miR-1271	CLIP-seq
MIRT1326805	hsa-miR-129-5p	CLIP-seq
MIRT1326806	hsa-miR-130a	CLIP-seq
MIRT1326807	hsa-miR-130b	CLIP-seq
MIRT1326808	hsa-miR-146a	CLIP-seq
MIRT1326809	hsa-miR-146b-5p	CLIP-seq
MIRT1326810	hsa-miR-148a	CLIP-seq
MIRT1326811	hsa-miR-148b	CLIP-seq
MIRT1326812	hsa-miR-152	CLIP-seq
MIRT1326813	hsa-miR-182	CLIP-seq
MIRT1326814	hsa-miR-2052	CLIP-seq
MIRT1326815	hsa-miR-2113	CLIP-seq
MIRT1326816	hsa-miR-298	CLIP-seq
MIRT1326817	hsa-miR-29a	CLIP-seq
MIRT1326818	hsa-miR-29b	CLIP-seq
MIRT1326819	hsa-miR-29c	CLIP-seq
MIRT1326820	hsa-miR-301a	CLIP-seq
MIRT1326821	hsa-miR-301b	CLIP-seq
MIRT1326822	hsa-miR-3065-3p	CLIP-seq
MIRT1326823	hsa-miR-3120-5p	CLIP-seq
MIRT1326824	hsa-miR-3124-3p	CLIP-seq
MIRT1326825	hsa-miR-3591-5p	CLIP-seq
MIRT1326826	hsa-miR-3666	CLIP-seq
MIRT1326827	hsa-miR-3919	CLIP-seq
MIRT1326828	hsa-miR-3925-5p	CLIP-seq
MIRT1326829	hsa-miR-412	CLIP-seq
MIRT1326830	hsa-miR-4276	CLIP-seq
MIRT1326831	hsa-miR-4282	CLIP-seq
MIRT1326832	hsa-miR-4295	CLIP-seq
MIRT1326833	hsa-miR-4473	CLIP-seq
MIRT1326834	hsa-miR-450b-5p	CLIP-seq
MIRT1326835	hsa-miR-4511	CLIP-seq
MIRT1326836	hsa-miR-454	CLIP-seq
MIRT1326837	hsa-miR-4671-3p	CLIP-seq
MIRT1326838	hsa-miR-4696	CLIP-seq
MIRT1326839	hsa-miR-4757-5p	CLIP-seq
MIRT1326840	hsa-miR-507	CLIP-seq
MIRT1326841	hsa-miR-511	CLIP-seq
MIRT1326842	hsa-miR-548b-3p	CLIP-seq
MIRT1326843	hsa-miR-557	CLIP-seq
MIRT1326844	hsa-miR-758	CLIP-seq
MIRT1326845	hsa-miR-873	CLIP-seq
MIRT1326846	hsa-miR-885-3p	CLIP-seq
MIRT1326847	hsa-miR-96	CLIP-seq
MIRT2097012	hsa-miR-1291	CLIP-seq
MIRT2097013	hsa-miR-1298	CLIP-seq
MIRT1326806	hsa-miR-130a	CLIP-seq
MIRT1326807	hsa-miR-130b	CLIP-seq
MIRT2097014	hsa-miR-205	CLIP-seq
MIRT2097015	hsa-miR-2355-5p	CLIP-seq
MIRT1326820	hsa-miR-301a	CLIP-seq
MIRT1326821	hsa-miR-301b	CLIP-seq
MIRT2097016	hsa-miR-3613-3p	CLIP-seq
MIRT1326826	hsa-miR-3666	CLIP-seq
MIRT2097017	hsa-miR-3973	CLIP-seq
MIRT1326832	hsa-miR-4295	CLIP-seq
MIRT2097018	hsa-miR-4308	CLIP-seq
MIRT2097019	hsa-miR-4457	CLIP-seq
MIRT1326833	hsa-miR-4473	CLIP-seq
MIRT1326836	hsa-miR-454	CLIP-seq
MIRT2097020	hsa-miR-944	CLIP-seq
MIRT2321399	hsa-miR-1207-3p	CLIP-seq
MIRT2321400	hsa-miR-1273g	CLIP-seq
MIRT2321401	hsa-miR-128	CLIP-seq
MIRT1326805	hsa-miR-129-5p	CLIP-seq
MIRT2097013	hsa-miR-1298	CLIP-seq
MIRT1326806	hsa-miR-130a	CLIP-seq
MIRT1326807	hsa-miR-130b	CLIP-seq
MIRT2321402	hsa-miR-138	CLIP-seq
MIRT2321403	hsa-miR-140-5p	CLIP-seq
MIRT2321404	hsa-miR-145	CLIP-seq
MIRT1326810	hsa-miR-148a	CLIP-seq
MIRT1326811	hsa-miR-148b	CLIP-seq
MIRT1326812	hsa-miR-152	CLIP-seq
MIRT2321405	hsa-miR-155	CLIP-seq
MIRT2097014	hsa-miR-205	CLIP-seq
MIRT1326814	hsa-miR-2052	CLIP-seq
MIRT1326815	hsa-miR-2113	CLIP-seq
MIRT2321406	hsa-miR-223	CLIP-seq
MIRT2097015	hsa-miR-2355-5p	CLIP-seq
MIRT2321407	hsa-miR-27a	CLIP-seq
MIRT2321408	hsa-miR-27b	CLIP-seq
MIRT1326820	hsa-miR-301a	CLIP-seq
MIRT1326821	hsa-miR-301b	CLIP-seq
MIRT1326823	hsa-miR-3120-5p	CLIP-seq
MIRT2321409	hsa-miR-3121-3p	CLIP-seq
MIRT1326824	hsa-miR-3124-3p	CLIP-seq
MIRT2321410	hsa-miR-3152-5p	CLIP-seq
MIRT2321411	hsa-miR-3176	CLIP-seq
MIRT2321412	hsa-miR-3182	CLIP-seq
MIRT2321413	hsa-miR-323b-5p	CLIP-seq
MIRT1326825	hsa-miR-3591-5p	CLIP-seq
MIRT1326826	hsa-miR-3666	CLIP-seq
MIRT2321414	hsa-miR-3671	CLIP-seq
MIRT2321415	hsa-miR-3675-5p	CLIP-seq
MIRT2321416	hsa-miR-371-5p	CLIP-seq
MIRT2321417	hsa-miR-371b-5p	CLIP-seq
MIRT2321418	hsa-miR-3922-3p	CLIP-seq
MIRT1326829	hsa-miR-412	CLIP-seq
MIRT2321419	hsa-miR-4268	CLIP-seq
MIRT2321420	hsa-miR-4270	CLIP-seq
MIRT1326830	hsa-miR-4276	CLIP-seq
MIRT1326831	hsa-miR-4282	CLIP-seq
MIRT1326832	hsa-miR-4295	CLIP-seq
MIRT2321421	hsa-miR-4424	CLIP-seq
MIRT2321422	hsa-miR-4441	CLIP-seq
MIRT2097019	hsa-miR-4457	CLIP-seq
MIRT2321423	hsa-miR-4469	CLIP-seq
MIRT1326833	hsa-miR-4473	CLIP-seq
MIRT2321424	hsa-miR-4474-5p	CLIP-seq
MIRT1326834	hsa-miR-450b-5p	CLIP-seq
MIRT1326836	hsa-miR-454	CLIP-seq
MIRT1326837	hsa-miR-4671-3p	CLIP-seq
MIRT1326838	hsa-miR-4696	CLIP-seq
MIRT2321425	hsa-miR-4697-3p	CLIP-seq
MIRT2321426	hsa-miR-4705	CLIP-seq
MIRT2321427	hsa-miR-4724-5p	CLIP-seq
MIRT2321428	hsa-miR-4757-3p	CLIP-seq
MIRT1326839	hsa-miR-4757-5p	CLIP-seq
MIRT2321429	hsa-miR-4763-5p	CLIP-seq
MIRT2321430	hsa-miR-4774-3p	CLIP-seq
MIRT1326840	hsa-miR-507	CLIP-seq
MIRT1326841	hsa-miR-511	CLIP-seq
MIRT2321431	hsa-miR-513a-5p	CLIP-seq
MIRT2321432	hsa-miR-513b	CLIP-seq
MIRT2321433	hsa-miR-520d-5p	CLIP-seq
MIRT2321434	hsa-miR-524-5p	CLIP-seq
MIRT1326843	hsa-miR-557	CLIP-seq
MIRT2321435	hsa-miR-642a	CLIP-seq
MIRT1326844	hsa-miR-758	CLIP-seq
MIRT2321436	hsa-miR-892a	CLIP-seq
MIRT2321437	hsa-miR-935	CLIP-seq
MIRT2097020	hsa-miR-944	CLIP-seq
MIRT1326806	hsa-miR-130a	CLIP-seq
MIRT1326807	hsa-miR-130b	CLIP-seq
MIRT1326810	hsa-miR-148a	CLIP-seq
MIRT1326811	hsa-miR-148b	CLIP-seq
MIRT1326812	hsa-miR-152	CLIP-seq
MIRT1326814	hsa-miR-2052	CLIP-seq
MIRT1326815	hsa-miR-2113	CLIP-seq
MIRT1326820	hsa-miR-301a	CLIP-seq
MIRT1326821	hsa-miR-301b	CLIP-seq
MIRT1326826	hsa-miR-3666	CLIP-seq
MIRT1326829	hsa-miR-412	CLIP-seq
MIRT1326830	hsa-miR-4276	CLIP-seq
MIRT1326832	hsa-miR-4295	CLIP-seq
MIRT1326836	hsa-miR-454	CLIP-seq
MIRT2394050	hsa-miR-4652-3p	CLIP-seq
MIRT1326844	hsa-miR-758	CLIP-seq
MIRT1326804	hsa-miR-1271	CLIP-seq
MIRT2617629	hsa-miR-1273e	CLIP-seq
MIRT1326805	hsa-miR-129-5p	CLIP-seq
MIRT1326806	hsa-miR-130a	CLIP-seq
MIRT1326807	hsa-miR-130b	CLIP-seq
MIRT1326808	hsa-miR-146a	CLIP-seq
MIRT1326809	hsa-miR-146b-5p	CLIP-seq
MIRT1326810	hsa-miR-148a	CLIP-seq
MIRT1326811	hsa-miR-148b	CLIP-seq
MIRT1326812	hsa-miR-152	CLIP-seq
MIRT1326813	hsa-miR-182	CLIP-seq
MIRT1326814	hsa-miR-2052	CLIP-seq
MIRT2617630	hsa-miR-2053	CLIP-seq
MIRT1326815	hsa-miR-2113	CLIP-seq
MIRT1326817	hsa-miR-29a	CLIP-seq
MIRT1326818	hsa-miR-29b	CLIP-seq
MIRT1326819	hsa-miR-29c	CLIP-seq
MIRT1326820	hsa-miR-301a	CLIP-seq
MIRT1326821	hsa-miR-301b	CLIP-seq
MIRT1326822	hsa-miR-3065-3p	CLIP-seq
MIRT1326823	hsa-miR-3120-5p	CLIP-seq
MIRT2321409	hsa-miR-3121-3p	CLIP-seq
MIRT1326824	hsa-miR-3124-3p	CLIP-seq
MIRT2321411	hsa-miR-3176	CLIP-seq
MIRT2617631	hsa-miR-3185	CLIP-seq
MIRT2097016	hsa-miR-3613-3p	CLIP-seq
MIRT2617632	hsa-miR-3619-3p	CLIP-seq
MIRT1326826	hsa-miR-3666	CLIP-seq
MIRT2321416	hsa-miR-371-5p	CLIP-seq
MIRT2321417	hsa-miR-371b-5p	CLIP-seq
MIRT1326827	hsa-miR-3919	CLIP-seq
MIRT2321418	hsa-miR-3922-3p	CLIP-seq
MIRT1326828	hsa-miR-3925-5p	CLIP-seq
MIRT2617633	hsa-miR-3974	CLIP-seq
MIRT1326829	hsa-miR-412	CLIP-seq
MIRT2617634	hsa-miR-4269	CLIP-seq
MIRT1326830	hsa-miR-4276	CLIP-seq
MIRT1326832	hsa-miR-4295	CLIP-seq
MIRT2617635	hsa-miR-432	CLIP-seq
MIRT2617636	hsa-miR-433	CLIP-seq
MIRT2321421	hsa-miR-4424	CLIP-seq
MIRT2617637	hsa-miR-4443	CLIP-seq
MIRT1326833	hsa-miR-4473	CLIP-seq
MIRT1326834	hsa-miR-450b-5p	CLIP-seq
MIRT2617638	hsa-miR-4514	CLIP-seq
MIRT1326836	hsa-miR-454	CLIP-seq
MIRT1326837	hsa-miR-4671-3p	CLIP-seq
MIRT2617639	hsa-miR-4692	CLIP-seq
MIRT2617640	hsa-miR-4742-5p	CLIP-seq
MIRT2617641	hsa-miR-4756-3p	CLIP-seq
MIRT1326839	hsa-miR-4757-5p	CLIP-seq
MIRT1326840	hsa-miR-507	CLIP-seq
MIRT1326841	hsa-miR-511	CLIP-seq
MIRT2321431	hsa-miR-513a-5p	CLIP-seq
MIRT2617642	hsa-miR-552	CLIP-seq
MIRT1326843	hsa-miR-557	CLIP-seq
MIRT2617643	hsa-miR-576-3p	CLIP-seq
MIRT2617644	hsa-miR-591	CLIP-seq
MIRT2617645	hsa-miR-593	CLIP-seq
MIRT2617646	hsa-miR-671-5p	CLIP-seq
MIRT1326844	hsa-miR-758	CLIP-seq
MIRT2617647	hsa-miR-764	CLIP-seq
MIRT1326846	hsa-miR-885-3p	CLIP-seq
MIRT1326847	hsa-miR-96	CLIP-seq
MIRT1326804	hsa-miR-1271	CLIP-seq
MIRT2617629	hsa-miR-1273e	CLIP-seq
MIRT1326805	hsa-miR-129-5p	CLIP-seq
MIRT1326806	hsa-miR-130a	CLIP-seq
MIRT1326807	hsa-miR-130b	CLIP-seq
MIRT1326808	hsa-miR-146a	CLIP-seq
MIRT1326809	hsa-miR-146b-5p	CLIP-seq
MIRT1326810	hsa-miR-148a	CLIP-seq
MIRT1326811	hsa-miR-148b	CLIP-seq
MIRT1326812	hsa-miR-152	CLIP-seq
MIRT1326813	hsa-miR-182	CLIP-seq
MIRT1326814	hsa-miR-2052	CLIP-seq
MIRT2617630	hsa-miR-2053	CLIP-seq
MIRT1326815	hsa-miR-2113	CLIP-seq
MIRT1326817	hsa-miR-29a	CLIP-seq
MIRT1326818	hsa-miR-29b	CLIP-seq
MIRT1326819	hsa-miR-29c	CLIP-seq
MIRT1326820	hsa-miR-301a	CLIP-seq
MIRT1326821	hsa-miR-301b	CLIP-seq
MIRT1326822	hsa-miR-3065-3p	CLIP-seq
MIRT1326823	hsa-miR-3120-5p	CLIP-seq
MIRT2321409	hsa-miR-3121-3p	CLIP-seq
MIRT1326824	hsa-miR-3124-3p	CLIP-seq
MIRT2321411	hsa-miR-3176	CLIP-seq
MIRT2097016	hsa-miR-3613-3p	CLIP-seq
MIRT2617632	hsa-miR-3619-3p	CLIP-seq
MIRT1326826	hsa-miR-3666	CLIP-seq
MIRT2321416	hsa-miR-371-5p	CLIP-seq
MIRT2321417	hsa-miR-371b-5p	CLIP-seq
MIRT1326827	hsa-miR-3919	CLIP-seq
MIRT2321418	hsa-miR-3922-3p	CLIP-seq
MIRT1326828	hsa-miR-3925-5p	CLIP-seq
MIRT2617633	hsa-miR-3974	CLIP-seq
MIRT1326829	hsa-miR-412	CLIP-seq
MIRT2617634	hsa-miR-4269	CLIP-seq
MIRT1326830	hsa-miR-4276	CLIP-seq
MIRT1326832	hsa-miR-4295	CLIP-seq
MIRT2617635	hsa-miR-432	CLIP-seq
MIRT2321421	hsa-miR-4424	CLIP-seq
MIRT2617637	hsa-miR-4443	CLIP-seq
MIRT1326833	hsa-miR-4473	CLIP-seq
MIRT1326834	hsa-miR-450b-5p	CLIP-seq
MIRT2617638	hsa-miR-4514	CLIP-seq
MIRT1326836	hsa-miR-454	CLIP-seq
MIRT1326837	hsa-miR-4671-3p	CLIP-seq
MIRT2617639	hsa-miR-4692	CLIP-seq
MIRT2617640	hsa-miR-4742-5p	CLIP-seq
MIRT2617641	hsa-miR-4756-3p	CLIP-seq
MIRT1326839	hsa-miR-4757-5p	CLIP-seq
MIRT1326840	hsa-miR-507	CLIP-seq
MIRT1326841	hsa-miR-511	CLIP-seq
MIRT2321431	hsa-miR-513a-5p	CLIP-seq
MIRT2617642	hsa-miR-552	CLIP-seq
MIRT1326843	hsa-miR-557	CLIP-seq
MIRT2617643	hsa-miR-576-3p	CLIP-seq
MIRT2617644	hsa-miR-591	CLIP-seq
MIRT2617646	hsa-miR-671-5p	CLIP-seq
MIRT1326844	hsa-miR-758	CLIP-seq
MIRT2617647	hsa-miR-764	CLIP-seq
MIRT1326846	hsa-miR-885-3p	CLIP-seq
MIRT1326847	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	20937701
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	15998640, 25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005774	Component	Vacuolar membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006914	Process	Autophagy	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	15998640
GO:0016020	Component	Membrane	IEA
GO:0019208	Function	Phosphatase regulator activity	IEA
GO:0019902	Function	Phosphatase binding	IEA
GO:0030424	Component	Axon	IEA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0042552	Process	Myelination	NAS	15998640
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 607697
• HGNC: 2135
• e!Ensembl: ENSG00000133812

Protein

• UniProt ID: Q86WG5
• Protein name: Myotubularin-related protein 13 (Inactive phosphatidylinositol 3-phosphatase 13) (SET-binding factor 2)
• Protein function: Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:209377
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03456	uDENN	25 → 85	uDENN domain	Domain
  PF02141	DENN	116 → 298	DENN (AEX-3) domain	Family
  PF12335	SBF2	530 → 754	Myotubularin protein	Family
  PF02893	GRAM	867 → 1006	GRAM domain	Domain
  PF06602	Myotub-related	1092 → 1521	Myotubularin-like phosphatase domain	Domain
  PF00169	PH	1744 → 1847	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in spinal cord. {ECO:0000269|PubMed:12554688}.
• Sequence:

  MARLADYFIVVGYDHEKPGSGEGLGKIIQRFPQKDWDDTPFPQGIELFCQPGGWQLSRER
  KQPTFFVVVLTDIDSDRHYCSCLTFYEAEINLQGTKKEEIEGEAKVSGLIQPAEVFAPKS
  LVLVSRLYYPEIFRACLGLIYTVYVDSLNVSLESLIANLCACLVPAAGGSQKLFSLGAGD
  RQLIQTPLHDSLPITGTSVALLFQQLGIQNVLSLFCAVLTENKVLFHSASFQRLSDACRA
  LESLMFPLKYSYPYIPILPAQLLEVLSSPTPFIIGVHSVFKTDVHELLDVIIADLDGGTI
  KIPECIHLSSLPEPLLHQTQSALSLILHPDLEVADHAFPPPRTALSHSKMLDKEVRAVFL
  RLFAQLFQGYRSCLQLIRIHAEPVIHFHKTAFLGQRGLVENDFLTKVLSGMAFAGFVSER
  GPPYRSCDLFDELVAFEVERIKVEENNPVKMIKHVRELAEQLFKNENPNPHMAFQKVPRP
  TEGSHLRVHILPFPEINEARVQELIQENVAKNQNAPPATRIEKKCVVPAGPPVVSIMDKV
  TTVFNSAQRLEVVRNCISFIFENKILETEKTLPAALRALKGKAARQCLTDELGLHVQQNR
  AILDHQQFDYIIRMMNCTLQDCSSLEEYNIAAALLPLTSAFYRKLAPGVSQFAYTCVQDH
  PIWTNQQFWETTFYNAVQEQVRSLYLSAKEDNHAPHLKQKDKLPDDHYQEKTAMDLAAEQ
  LRLWPTLSKSTQQELVQHEESTVFSQAIHFANLMVNLLVPLDTSKNKLLRTSAPGDWESG
  SNSIVTNSIAGSVAESYDTESGFEDSENTDIANSVVRFITRFIDKVCTESGVTQDHIKSL
  HCMIPGIVAMHIETLEAVHRESRRLPPIQKPKILRPALLPGEEIVCEGLRVLLDPDGREE
  ATGGLLGGPQLLPAEGALFLTTYRILFRGTPHDQLVGEQTVVRSFPIASITKEKKITMQN
  QLQQNMQEGLQITSASFQLIKVAFDEEVSPEVVEIFKKQLMKFRYPQSIFSTFAFAAGQT
  TPQIILPKQKEKNTSFRTFSKTIVKGAKRAGKMTIGRQYLLKKKTGTIVEERVNRPGWNE
  DDDVSVSDESELPTSTTLKASEKSTMEQLVEKACFRDYQRLGLGTISGSSSRSRPEYFRI
  TASNRMYSLCRSYPGLLVVPQAVQDSSLPRVARCYRHNRLPVVCWKNSRSGTLLLRSGGF
  HGKGVVGLFKSQNSPQAAPTSSLESSSSIEQEKYLQALLNAVSVHQKLRGNSTLTVRPAF
  ALSPGVWASLRSSTRLISSPTSFIDVGARLAGKDHSASFSNSSYLQNQLLKRQAALYIFG
  EKSQLRNFKVEFALNCEFVPVEFHEIRQVKASFKKLMRACIPSTIPTDSEVTFLKALGDS
  EWFPQLHRIMQLAVVVSEVLENGSSVLVCLEEGWDITAQVTSLVQLLSDPFYRTLEGFQM
  LVEKEWLSFGHKFSQRSSLTLNCQGSGFAPVFLQFLDCVHQVHNQYPTEFEFNLYYLKFL
  AFHYVSNRFKTFLLDSDYERLEHGTLFDDKGEKHAKKGVCIWECIDRMHKRSPIFFNYLY
  SPLEIEALKPNVNVSSLKKWDYYIEETLSTGPSYDWMMLTPKHFPSEDSDLAGEAGPRSQ
  RRTVWPCYDDVSCTQPDALTSLFSEIEKLEHKLNQAPEKWQQLWERVTVDLKEEPRTDRS
  QRHLSRSPGIVSTNLPSYQKRSLLHLPDSSMGEEQNSSISPSNGVERRAATLYSQYTSKN
  DENRSFEGTLYKRGALLKGWKPRWFVLDVTKHQLRYYDSGEDTSCKGHIDLAEVEMVIPA
  GPSMGAPKHTSDKAFFDLKTSKRVYNFCAQDGQSAQQWMDKIQSCISDA

• Sequence length: 1849

Pathways

Reactome:

RAB GEFs exchange GTP for GDP on RABs

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Charcot-Marie-Tooth disease	Pathogenic; Likely pathogenic	rs120074139, rs1032796987, rs1947335024	RCV000790190 RCV000790191 RCV001172789	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Pathogenic; Likely pathogenic	rs141133392, rs2135330973, rs2133850270, rs2133861507, rs1433023728, rs2134006623, rs2133861770, rs1295003959, rs120074138, rs120074139, rs1249209712, rs746642259, rs1399471736, rs2494735922, rs1853958093, rs1853957938, rs2496157537, rs2496366381, rs1564849558, rs1345928305, rs2494800093, rs2494902317, rs2494620013, rs2494599240, rs1590797444, rs1381069212, rs2496112378, rs2494503596, rs2496189670, rs2494513770, rs2495918382, rs776306054, rs1060499999, rs1060500001, rs1064793771, rs1270869520, rs1565115957, rs1564872328, rs752649372, rs774667470, rs1564923441, rs1032796987, rs1413469900, rs145183196, rs1949709115, rs1856483925	RCV002948236 RCV001379782 RCV001377306 RCV001379143 RCV001390841 RCV005095127 RCV002049091 RCV002002456 RCV001045497 RCV001055475 RCV002589328 RCV002646661 RCV002820311 RCV002815891 RCV002852442 RCV002877061 RCV002903867 RCV002872276 RCV002975805 RCV002966072 RCV003005822 RCV003057272 RCV003583328 RCV003581275 RCV003583574 RCV003583677 RCV003583810 RCV003744113 RCV003744151 RCV003744341 RCV003745049 RCV003814919 RCV000471492 RCV000471792 RCV001381198 RCV000696854 RCV000707144 RCV000686834 RCV000706139 RCV000704934 RCV000696789 RCV002535814 RCV001046934 RCV001035494 RCV001061866 RCV001212930 RCV001239448	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4B2	Pathogenic; Likely pathogenic	rs2134006623, rs1852575488, rs120074137, rs120074138, rs120074139, rs2496176112, rs2494901293, rs762408471, rs113702075, rs1565106242, rs1032796987, rs1590076969, rs145183196, rs1947335024, rs1853955279, rs1166873755	RCV001784935 RCV002250304 RCV004700180 RCV004700181 RCV004700182 RCV003234624 RCV003448551 RCV004556159 RCV005409974 RCV005410304 RCV005870875 RCV000988487 RCV003479276 RCV006443770 RCV001196478 RCV001262441	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs1060499999	RCV005898432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SBF2-related disorder	Likely pathogenic; Pathogenic	rs1064793771	RCV003409654	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital thrombocytopenia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	31089142		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	23180869		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	35968497	Stimulate	★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	25873783	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30338801, 32626753	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	12554688, 12687498, 15304601, 16399794, 17917119, 18429927, 23334996, 27732968, 31070812, 31772832		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	12687498, 15477569, 15998640		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CLINVAR_DG	12687498, 15477569, 25873783		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4B2	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, Type 4B1	Charcot-Marie-Tooth Disease	BEFREE	15998640, 23297362		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 4B2	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	12554688, 12687498		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4B2	Charcot-Marie-Tooth Disease	BEFREE	15998640, 25462154, 30028002, 30419760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4B2	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma	Charcot-Marie-Tooth Disease With Glaucoma	BEFREE	25462154		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma	Charcot-Marie-Tooth Disease With Glaucoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	BEFREE	25388615		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26302849		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32626753	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	12687498, 25873783	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	25873783	Stimulate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33436941	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33436941	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	LHGDN	12687498		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	12687498, 25462154, 31070812, 31588173	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	15304601, 30028002, 31070812		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	25873783, 31588173	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30984540, 32626753, 34159865	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	21840889	Associate	★☆☆☆☆ Found in Text Mining only
Hypopigmentation-immunodeficiency disease	Hypopigmentation-Immunodeficiency Disease	BEFREE	23334996		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33099911	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27460731, 30856345	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	31089142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	GWASDB_DG	23180869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25882882		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	31089142		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GWASCAT_DG	29273593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	GWASCAT_DG	29273593		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	25462154		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30028002		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34850542	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	23180869, 28470677		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25882882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23180869, 25882882, 31619579	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis	Paraparesis	Pubtator	25462154	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	15304601, 31772832		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	12687498, 18429927, 27732968		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	12687498, 27732968, 34986146	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	25873783	Stimulate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	12687498, 27732968		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	30028002		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29552140		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32626753, 36549764	Associate	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	27732968		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32602632	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30856345	Stimulate	★☆☆☆☆ Found in Text Mining only