DDHD2 (DDHD domain containing 2)

2015-12-01  

Identity

HGNC
DDHD2
LOCATION
8p11.23
LOCUSID
23259
ALIAS
SAMWD1,SPG54,iPLA(1)gamma,iPLA1gamma

Other Information

Locus ID:

NCBI: 23259
MIM: 615003
HGNC: 29106
Ensembl: ENSG00000085788

Variants:

dbSNP: 23259
ClinVar: 23259
TCGA: ENSG00000085788
COSMIC: DDHD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000085788ENST00000397166O94830
ENSG00000085788ENST00000517385O94830
ENSG00000085788ENST00000520272O94830
ENSG00000085788ENST00000526144H0YF17
ENSG00000085788ENST00000526237E9PPN2
ENSG00000085788ENST00000527415E9PIF5
ENSG00000085788ENST00000527834E9PQY9
ENSG00000085788ENST00000528358E9PM60
ENSG00000085788ENST00000528613H0YE64
ENSG00000085788ENST00000529642E9PP45
ENSG00000085788ENST00000529845E9PK57
ENSG00000085788ENST00000532106H0YF30
ENSG00000085788ENST00000532222E9PKE6
ENSG00000085788ENST00000533100E9PPH8

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PAREACTOMER-HSA-1483166

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378375602024Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.0
383320482024DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins.0
390625932024Radiation-Induced Endothelial Ferroptosis Accelerates Atherosclerosis via the DDHD2-Mediated Nrf2/GPX4 Pathway.0
378375602024Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.0
383320482024DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins.0
390625932024Radiation-Induced Endothelial Ferroptosis Accelerates Atherosclerosis via the DDHD2-Mediated Nrf2/GPX4 Pathway.0
374203182023Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.2
374203182023Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.2
334624832021Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk.27
334792082021Circular RNA circRUNX1 promotes papillary thyroid cancer progression and metastasis by sponging MiR-296-3p and regulating DDHD2 expression.16
334624832021Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk.27
334792082021Circular RNA circRUNX1 promotes papillary thyroid cancer progression and metastasis by sponging MiR-296-3p and regulating DDHD2 expression.16
327476982020Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.39
327476982020Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.39
313027452019Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.6

Citation

Dessen P

DDHD2 (DDHD domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-12-01

Online version: http://atlasgeneticsoncology.org/gene/55538/case-report-explorer/gene-explorer/