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

Gene ID: 79180, updated on 5-Aug-2018

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; Vega:OTTHUMG00000002254
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
Expression
Broad expression in bone marrow (RPKM 61.4), spleen (RPKM 51.1) and 25 other tissues See more
Orthologs

Genomic context

See EFHD2 in Genome Data Viewer
Location:
1p36.21
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (15409895..15430343)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (15736391..15756839)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 2 pseudogene Neighboring gene forkhead associated phosphopeptide binding domain 1 Neighboring gene uncharacterized LOC101927417 Neighboring gene uncharacterized LOC101927441 Neighboring gene uncharacterized LOC105376767 Neighboring gene chymotrypsin C Neighboring gene chymotrypsin like elastase family member 2A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4342

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane raft IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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)

  1. NM_024329.5NP_077305.2  EF-hand domain-containing protein D2

    See identical proteins and their annotated locations for NP_077305.2

    Status: VALIDATED

    Source sequence(s)
    AI624416, BC007233, BC023611, BI753983, BM796344
    Consensus CDS
    CCDS155.1
    UniProtKB/Swiss-Prot
    Q96C19
    UniProtKB/TrEMBL
    A0A024QZ77
    Related
    ENSP00000365147.4, OTTHUMP00000002319, ENST00000375980.8, OTTHUMT00000006433
    Conserved Domains (1) summary
    cd00051
    Location:96154
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    15409895..15430343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246000.3XP_005246057.1  EF-hand domain-containing protein D2 isoform X1

    Conserved Domains (1) summary
    cd00051
    Location:96156
    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 ...
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