EFHD2 EF-hand domain family member D2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EFHD2provided by HGNC
Official Full Name: EF-hand domain family member D2provided by HGNC
Primary source: HGNC:HGNC:28670
See related: Ensembl:ENSG00000142634 MIM:616450; AllianceGenome:HGNC:28670
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SWS1
Summary: Enables cadherin binding activity. Predicted to be located in membrane raft. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in bone marrow (RPKM 61.4), spleen (RPKM 51.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (15409888..15430339)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (14854637..14875085)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (15736384..15756835)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of Swiprosin-1/EFHD2 as a biomarker in the development of chronic diseases.
Title: Role of Swiprosin-1/EFHD2 as a biomarker in the development of chronic diseases.
EFHD2 contributes to non-small cell lung cancer cisplatin resistance by the activation of NOX4-ROS-ABCC1 axis.
Title: EFHD2 contributes to non-small cell lung cancer cisplatin resistance by the activation of NOX4-ROS-ABCC1 axis.
Association between EFHD2 gene polymorphisms and schizophrenia among the Han population in northern China.
Title: Association between EFHD2 gene polymorphisms and schizophrenia among the Han population in northern China.
our study uncovers a protein complex, which consists of SWS1, SWSAP1, SPIDR and PDS5B, involved in DNA repair and provides insight into Shu complex function and composition
Title: The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination.
first time we have identified the -100/+41 to -70/+41 bp core promoter regions of Swiprosin-1 gene, and showed ADR1 and Sp1 are important transcription factors that directly bind to and transactivate the Swiprosin-1 promoter region.
Title: Conserved Noncoding Sequences Boost ADR1 and SP1 Regulated Human Swiprosin-1 Promoter Activity.
EFHD2 was identified as expressed in highly metastatic tumor cells. EFHD2 increased the formation of protrusive invadopodia structures and cell migration and invasion abilities and promoted the epithelial-to-mesenchymal transition (EMT) character of lung adenocarcinoma cells. We demonstrated that the mechanism of EFHD2 in enhancing EMT occurs partly through inhibition of caveolin-1 (CAV1) for cancer progression.
Title: EFHD2 promotes epithelial-to-mesenchymal transition and correlates with postsurgical recurrence of stage I lung adenocarcinoma.
EFHD2 is an important regulator of T cell cytotoxicity and further studies should evaluate its role in T cell-mediated inflammation
Title: EF Hand Domain Family Member D2 Is Required for T Cell Cytotoxicity.
MOES, ANXA5 and EFHD2 were confirmed by selected reaction monitoring to be correlated to monocytic differentiation, and could be biomarkers for disease stratification in AML
Title: Phosphoprotein DIGE profiles reflect blast differentiation, cytogenetic risk stratification, FLT3/NPM1 mutations and therapy response in acute myeloid leukaemia.
Data demonstrate that EFhd2 shows unique structural and biological features as an EF-hand containing F-actin bundling protein. For F-actin bundling activity, structural stabilization of the EF-hand domains was found to occur in the presence of Ca2+. The core region of EFhd2 maintains its structure in the absence of Ca2+ ; however, changes in local conformational flexibility reduce F-actin bundling activity of EFhd2.
Title: Structural implications of Ca(2+)-dependent actin-bundling function of human EFhd2/Swiprosin-1.
Phosphorylation at Ser183 of EFhd2 causes changes in the local conformational dynamics and the surface charge distribution of the actin-binding site, resulting in a re-coordination of the actin-binding sites in the dimer structure.
Title: Structural mechanism underlying regulation of human EFhd2/Swiprosin-1 actin-bundling activity by Ser183 phosphorylation.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in membrane raft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: EF-hand domain-containing protein D2

Names: EF hand domain containing 2; swiprosin 1; testicular tissue protein Li 62

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_024329.6 → NP_077305.2 EF-hand domain-containing protein D2

See identical proteins and their annotated locations for NP_077305.2

Status: VALIDATED

Source sequence(s)

AL031283, BC007233, BC023611, BI753983, BM796344

Consensus CDS

CCDS155.1

UniProtKB/Swiss-Prot

Q5JYW9, Q96C19

UniProtKB/TrEMBL

A0A024QZ77, A0A140VJI8

Related

ENSP00000365147.4, ENST00000375980.9

Conserved Domains (1) summary

cd00051
Location:96 → 154

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

15409888..15430339

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005246000.4 → XP_005246057.1 EF-hand domain-containing protein D2 isoform X1

Conserved Domains (1) summary

cd00051
Location:96 → 156

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
XM_047430233.1 → XP_047286189.1 EF-hand domain-containing protein D2 isoform X2