Table 1 Classification of deregulated genes found in patients with Batten disease [4]*

I. Genes coding for receptors and coreceptors

GPR109B

Receptor of caprilic acid, GPCR, involved in metabolism of lipids and cholesterol.

Modifier

Down

Up

FCGR2B/ FCGR2C

(CD32)

Low affinity receptor for the Fc region of immunoglobulin gamma complexes.

Modifier

Down

Up

MS4A1(CD20)

Member of the membrane-spanning 4A gene family. MS4A proteins form signaling complexes with other surface membrane molecules that modulate downstream biochemical signals [26].

Modifier

Down

Up

II. Genes encoding proteins involved in signal transduction

BLK

Src-like tyrosine kinase.

Modifier

Down

Up

RAPGEF1

Guanine nucleotide exchange factor activating several members of the Ras family of GTPases.

Modifier

Down

Up

CDC42SE2

CDC42 small effector 2 involved in signal transduction from B-lymphocyte receptors, GPCRs and receptors of tyrosine kinases.

Biomarker

Down

Down

MARCKS

Participates in protein kinase C (PKC)-MARCKS-PIP2-PI3K-PIP3 cascade [27].

Modifier

Down

Up

BACE2

APP cleavage and transcription activation through AICD.

Modifier

Down

Up

III. Genes coding for proteins that impair signaling cascades

RGS1

Protein from family of negative regulators of GPCR signaling pathways.

Biomarker

Up

Up

DUSP2

Threonine/tyrosine phosphatase localizing in the nucleus and specifically dephosphorylating MAP superfamily kinases.

Biomarker

Up

Up

IV. Genes encoding transcription factors and components of the RNA polymerase II (RNAPII)

KLF6

A member of the Kruppel-like family of transcription factors.

Modifier

Down

Up

SPIB

A transcriptional factor (TF) that binds to the PU-box (5′-GAGGAA-3′) and belongs to ETS family of TFs.

Modifier

Down

Up

POLR2J2

A minor isoform of the RNA polymerase II subunit hRPB11

Biomarker

Down

Down

ZNF718

Zn-finger protein that may be involved in transcriptional regulation.

Modifier

Down

Up