Gene Gene information from NCBI Gene database.
Entrez ID 79180
Gene name EF-hand domain family member D2
Gene symbol EFHD2
Synonyms (NCBI Gene)
SWS1
Chromosome 1
Chromosome location 1p36.21
miRNA miRNA information provided by mirtarbase database.
399
miRTarBase ID miRNA Experiments Reference
MIRT019574 hsa-miR-340-5p Sequencing 20371350
MIRT022800 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT025488 hsa-miR-34a-5p Proteomics 21566225
MIRT025836 hsa-miR-7-5p Microarray 19073608
MIRT560318 hsa-miR-6768-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0016020 Component Membrane IEA
GO:0045121 Component Membrane raft IEA
GO:0045296 Function Cadherin binding HDA 25468996
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616450 28670 ENSG00000142634
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96C19
Protein name EF-hand domain-containing protein D2 (Swiprosin-1)
Protein function May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis. Plays a role as negative regulator of the canonical NF-kappa-B-activating branch. Controls spontaneous apoptosis through the regulation of BCL2L1 abundance. {ECO:0
PDB 5H0P , 5I2L , 5I2O , 5I2Q , 7YGY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 94 158 EF-hand domain pair Domain
Tissue specificity TISSUE SPECIFICITY: Found in lymphocytes; preferentially expressed in CD8+ cells. {ECO:0000269|PubMed:11788997, ECO:0000269|PubMed:15274114}.
Sequence
MATDELATKLSRRLQMEGEGGGETPEQPGLNGAAAAAAGAPDEAAEALGSADCELSAKLL
RRADLNQGIGEPQSPSRRVFNPYTEFKEFSRKQIKDMEKMFKQYDAGRDGFIDLMELKLM
MEKLGAPQTHLGLKNMIKEVDEDFDSKLSFREFLLIFR
KAAAGELQEDSGLCVLARLSEI
DVSSEGVKGAKSFFEAKVQAINVSSRFEEEIKAEQEERKKQAEEMKQRKAAFKELQSTFK
Sequence length 240
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BINGE DRINKING CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder BEFREE 28397836
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28397836
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30426778
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 30426778 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35341013 Associate
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 19693767
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathy Diabetic Nephropathy BEFREE 29421811
★☆☆☆☆
Found in Text Mining only
Ectodermal Dysplasia Ectodermal dysplasia Pubtator 35341013 Associate
★☆☆☆☆
Found in Text Mining only
Eczema Eczema BEFREE 19693767
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 36932446 Associate
★☆☆☆☆
Found in Text Mining only