Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

SBF2

contributors: mct/npt - updated : 11-03-2016

HGNC name	SET binding factor 2
HGNC id	2135

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMT4B2 Charcot-Marie-Tooth disease, type 4B2
Location	11p15.4      Physical location : 9.800.213 - 10.315.754
Synonym name	Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)
	myotubularin related 13
	DENN/MADD domain containing 7B
Synonym symbol(s)	KIAA1766, MTMR13, FLJ22918, FLJ41627, CMT4B2, DENND7B

DNA

TYPE	functioning gene
STRUCTURE	515.54 kb     40 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_030962 40 - 7442 NP_112224 208.5 1849 - Robinson (2005)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine       Endocrine parathyroid       highly Hearing/Equilibrium ear       highly Nervous nerve spinal nerve sciatic       spinal cord         Reproductive female system uterus cervix     Respiratory respiratory tract larynx       Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Nervous central       Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three DENN (AEX-3) domain
	SID motif
	one GRAM domain and a PH homology domain
	one PH domain
	one UDENN domain

HOMOLOGY

interspecies

ortholog to murine Sbf2

intraspecies

homolog to MTMR2

Homologene

FAMILY	protein-tyrosine phosphatase family
	non-receptor class myotubularin subfamily
	myotubularin protein family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	acting to maintain structural and functional integrity of the peripheral nervous system
	involved in both the differentiation of Schwann cells during myelination and in the formation and development of the trabeculum
	may regulate vesicular trafficking in Schwann cells (Previtali 2007)
	counteracts the blockage of EGFR degradation without affecting prolonged AKT1 activation
	MTMR2 and SBF2 play critical roles in the sorting and modulation of cellular signalling which are likely to be disturbed in CMT4B
	acting as an adaptor and activator for MTMR2 but also as an independent competitive inhibitor of MTMR2 localization and function
	SBF2 and RAB21 have conserved functions required for starvation-induced autophagy

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complex MTMR2/SBF2 involved in the regulation of MTMR2 activity

INTERACTION

DNA

RNA

small molecule

protein	interacting with MTMR2 (favorably competes with MTMR2 for binding sites)
	is a critical coordinator of PI(3)P and RAB21 regulation, which specifies an endosomal pathway and cortical control
	is required for RAB21 activation, VAMP8 interaction and VAMP8 endolysosomal trafficking, defining a novel GEF-Rab-effector pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMT4B2

Susceptibility

to variation of stature

Variant & Polymorphism SNP	seven contiguous SNPs in this region significantly associated with human stature (Lei 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS