PhenoModifier-Gene Detail

Gene "DCLK2"

Found 1 record

Gene information

Gene symbol:

DCLK2

See related:

Ensembl: ENSG00000170390, Gene ID: 166614

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	ATAD2 SIN3A MAP3K2 MRPL36 TIMM13 PDHA2 PGAP1 PPP6R3 ACTR6 IMMP2L MARCH6 GGPS1 DDX21 CHN1 NUDT5 MIOS WDR59 VPS13D STRIP2 PIGG PPCDC OVCA2 NFXL1 ALG8 SLC3A1 SLC27A3 ZDHHC6 PEX12 VAC14 OGFOD1 WWOX NTHL1 PGM1 HHATL CTU1 CHD8 ABCC6 ERCC6 CRY2 DDX31 COQ7 DPP6 CORO2B CLPB MSRA ALG12 PPP6R3 PSMD4 PRKG2 ALDH1L2 IDH2 POMT2 TUBA3D PNP ATG7 RPS28 EIF5A2 MOGAT3 CLK2 SLC35B1 SLC44A3 ZMPSTE24 PSPH ASH1L THADA ACER3 show allhide
Negative interactions	CCNA2 RAD17 ATP1A1 SBK1 SFN TIA1 MRM2 NPLOC4 CSNK2B BUD31 TGS1 NAA30 CDC73 WRN CLIP1 XRN1 PBLD DNAJC17 DNAJA4 KIFC2 DYNC2H1 ASF1A H3F3C TTF2 RAB6B DDI2 TXNDC9 USP4 GLIPR2 MRI1 TTC31 DGAT1 SLC25A28 RAD52 SMARCB1 SLC38A7 HORMAD1 NIF3L1 OTUD6A RCOR1 PHB2 SRPK2 ENPP2 KTI12 SEC24D RHOH ZFP42 PPP6R3 ELOVL1 DYNLL1 PRDX6 SLC12A8 EXO1 FOXJ3 PPCDC QPRT RPS7 HIST2H4B HNRNPM MGLL RPL7A DPYSL2 TALDO1 LSM14B PAN2 SDSL LETM1 ZFP36L2 show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Altered severity(1)

Detail：

Variant 1:

DCLK2:rs759398144

Gene:

DCLK2

Genomic location:

dbSNP ID:

rs759398144

Target disease:

Spinal Muscular Atrophy(DOID_12377)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

Pedigree analysis

Effect:

The polymorphism is associated with the disease severity.

Reference:

PMID25512093

Title:

Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.

Species studied:

Human

Abstract:

The heavy chain 1 of cytoplasmic dynein (DYNC1H1) is responsible for movement of the motor complex along microtubules and recruitment of dynein components. Mutations in DYNC1H1 are associated with spinal muscular atrophy (SMA), hereditary motor and sensory neuropathy (HMSN), cortical malformations, or a combination of these. Combining linkage analysis and whole-exome sequencing, we identified a novel dominant defect in the DYNC1H1 tail domain (c.1792C>T, p.Arg598Cys) causing axonal HMSN. Mutation analysis of the tail region in 355 patients identified a de novo mutation (c.791G>T, p.Arg264Leu) in an isolated SMA patient. Her phenotype was more severe than previously described, characterized by multiple congenital contractures and delayed motor milestones, without brain malformations. The mutations in DYNC1H1 increase the interaction with its adaptor BICD2. This relates to previous studies on BICD2 mutations causing a highly similar phenotype. Our findings broaden the genetic heterogeneity and refine the clinical spectrum of DYNC1H1, and have implications for molecular diagnostics of motor neuron diseases.