EFHD2 (EF-hand domain family member D2)

2014-08-01  

Identity

HGNC
LOCATION
1p36.21
LOCUSID
ALIAS
SWS1
FUSION GENES

Other Information

Locus ID:

NCBI: 79180
MIM: 616450
HGNC: 28670
Ensembl: ENSG00000142634

Variants:

dbSNP: 79180
ClinVar: 79180
TCGA: ENSG00000142634
COSMIC: EFHD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142634ENST00000375980Q96C19
ENSG00000142634ENST00000375980A0A024QZ77
ENSG00000142634ENST00000445566H0Y4Y4

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
352762212022Role of Swiprosin-1/EFHD2 as a biomarker in the development of chronic diseases.1
352762212022Role of Swiprosin-1/EFHD2 as a biomarker in the development of chronic diseases.1
324461752020EFHD2 contributes to non-small cell lung cancer cisplatin resistance by the activation of NOX4-ROS-ABCC1 axis.19
325674302020Association between EFHD2 gene polymorphisms and schizophrenia among the Han population in northern China.2
324461752020EFHD2 contributes to non-small cell lung cancer cisplatin resistance by the activation of NOX4-ROS-ABCC1 axis.19
325674302020Association between EFHD2 gene polymorphisms and schizophrenia among the Han population in northern China.2
316657412019The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination.19
316657412019The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination.19
291750912018Phosphoprotein DIGE profiles reflect blast differentiation, cytogenetic risk stratification, FLT3/NPM1 mutations and therapy response in acute myeloid leukaemia.6
302750482018EF Hand Domain Family Member D2 Is Required for T Cell Cytotoxicity.7
304051622018Conserved Noncoding Sequences Boost ADR1 and SP1 Regulated Human Swiprosin-1 Promoter Activity.0
291750912018Phosphoprotein DIGE profiles reflect blast differentiation, cytogenetic risk stratification, FLT3/NPM1 mutations and therapy response in acute myeloid leukaemia.6
302750482018EF Hand Domain Family Member D2 Is Required for T Cell Cytotoxicity.7
304051622018Conserved Noncoding Sequences Boost ADR1 and SP1 Regulated Human Swiprosin-1 Promoter Activity.0
280112712017Structural mechanism underlying regulation of human EFhd2/Swiprosin-1 actin-bundling activity by Ser183 phosphorylation.4

Citation

Dessen P

EFHD2 (EF-hand domain family member D2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54274/efhd2-(ef-hand-domain-family-member-d2)