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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	81846
Gene name	SET binding factor 2
Gene symbol	SBF2
Synonyms (NCBI Gene)	CMT4B2DENND7BMTMR13
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.

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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

277

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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

Show/Hide all (23)

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

MIM	HGNC	e!Ensembl
607697	2135	ENSG00000133812

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

Interactions

View interactions

	Reactome
			RAB GEFs exchange GTP for GDP on RABs

1643

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease	Pathogenic; Likely pathogenic	rs120074139, rs1032796987, rs1947335024	RCV000790190 RCV000790191 RCV001172789
Charcot-Marie-Tooth disease type 4	Pathogenic; Likely pathogenic	rs141133392, rs2135330973, rs2133850270, rs2133861507, rs1433023728, rs2134006623, rs2133861770, rs1295003959, rs120074138, rs120074139, rs1249209712, rs746642259, rs1399471736, rs2494735922, rs1853958093 View all (31 more)	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
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 View all (1 more)	RCV001784935 RCV002250304 RCV004700180 RCV004700181 RCV004700182 RCV003234624 RCV003448551 RCV004556159 RCV005409974 RCV005410304 RCV005870875 RCV000988487 RCV003479276 RCV006443770 RCV001196478 RCV001262441
Ovarian serous cystadenocarcinoma	Pathogenic	rs1060499999	RCV005898432
SBF2-related disorder	Likely pathogenic; Pathogenic	rs1064793771	RCV003409654

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs117107002, rs61892572, rs11826263, rs201201683	RCV005919159 RCV005915290 RCV005925206 RCV005900011
Cholangiocarcinoma	Benign	rs11826263, rs7128234	RCV005925209 RCV005900067
Clear cell carcinoma of kidney	Likely benign; Uncertain significance	rs779580044, rs775360425	RCV005911264 RCV005893053
Congenital thrombocytopenia	Uncertain significance	rs764823510	RCV005863237
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	rs142261202, rs143439179, rs185107978	RCV005891929 RCV005896544 RCV005902253
Gastric cancer	Benign	rs11826263	RCV005925207
Lung cancer	Benign	rs11826263	RCV005925210
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs143439179, rs7128234	RCV005896546 RCV005900066
Malignant tumor of esophagus	Benign; Likely benign	rs143439179	RCV005896545
Malignant tumor of urinary bladder	-	rs2496376445	RCV005931771
Peripheral neuropathy	Uncertain significance	rs750958357	RCV000449588
Sarcoma	Uncertain significance; Likely benign	rs2645029, rs148002177, rs185107978	RCV005931833 RCV005893052 RCV005902254
Thymoma	Benign	rs61892572	RCV005915292
Tip-toe gait	Conflicting classifications of pathogenicity; Uncertain significance	rs141330687, rs146230559, rs141894081, rs145199888, rs762165359, rs757836523, rs1564917788	RCV001293356 RCV002227459 RCV001564019 RCV001352894 RCV002224966 RCV002227940 RCV001449603
Uterine carcinosarcoma	Benign	rs11826263	RCV005925208
Uterine corpus endometrial carcinoma	Benign	rs61892572, rs59613534	RCV005915293 RCV005893051

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Aneurysm Abdominal	Stimulate	35968497
Blindness	Stimulate	25873783
Carcinoma Hepatocellular	Associate	30338801, 32626753
Carcinoma Non Small Cell Lung	Associate	27460731, 35444785
Charcot Marie Tooth Disease	Associate	12687498, 34169998
Charcot Marie Tooth disease Type 2B	Associate	25873783
Charcot Marie Tooth disease Type 4B1	Associate	15998640, 31070812
Charcot Marie Tooth disease Type 4B2	Associate	12687498, 25462154, 25873783, 27732968
Charcot Marie Tooth disease Type 4B2	Stimulate	25873783
Colorectal Neoplasms	Associate	32626753
Death	Associate	23180869
Demyelinating Diseases	Associate	12687498, 25873783
Demyelinating Diseases	Stimulate	25873783
Esophageal Neoplasms	Stimulate	33436941
Esophageal Squamous Cell Carcinoma	Associate	33436941
Foot Deformities	Associate	21840889, 25462154
Gait Disorders Neurologic	Associate	25462154
Glaucoma	Associate	12687498, 25462154, 31070812, 31588173
Glaucoma 3 Primary Congenital A	Associate	25873783, 31588173
Glioma	Associate	30984540, 32626753, 34159865
Hammer Toe Syndrome	Stimulate	25873783
Hereditary Sensory and Motor Neuropathy	Associate	21840889
Lung Neoplasms	Associate	33099911
Lymphatic Metastasis	Stimulate	27460731, 30856345
Mental Disorders	Associate	35994476
Muscle Weakness	Stimulate	25873783
Neoplasm Invasiveness	Stimulate	30338801
Neoplasm Metastasis	Associate	30338801, 34850542
Neoplasms	Associate	27460731, 30856345, 34159865, 35444785
Neoplasms	Stimulate	33436941
Neoplastic Syndromes Hereditary	Associate	21840889, 32700628
Nerve Degeneration	Associate	34986146
Ovarian Neoplasms	Associate	34850542
Pancreatic Neoplasms	Associate	23180869, 25882882, 31619579
Paraparesis	Associate	25462154
Peripheral Nervous System Diseases	Associate	12687498, 27732968, 34986146
Peripheral Nervous System Diseases	Stimulate	25873783
Stomach Neoplasms	Associate	32626753, 36549764
Talipes Cavus	Stimulate	25873783
Thyroid Cancer Papillary	Associate	32602632
Uterine Cervical Neoplasms	Stimulate	30856345

SBF2 (SET binding factor 2)