H-InvDB x AHG DB
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H-Invitational ID: HIT000258918 Accession number: BC007233 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: EF-hand domain-containing protein D2; Swiprosin-1;
 
 

Transcript original information
Accession number BC007233.1
CAGE tag ID NA
EST ID NA
Clone Number MGC:15408 IMAGE:2961350
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (EFHD2) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (EFHD2);
Sequence data provider NA
Annotation project NA
Length of cDNA 2382[bp] (No. of exon:4)[A:477 T:442 G:720 C:743]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Muscle, rhabdomyosarcoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence GCCACCATGG
PolyA Site: 2365(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0000150
Genomic location  G-integra Help Chromosome 1
Location 1p36.21
Position 15736433- 15756827
Strand +
Possible duplicated location(s) NA
Gene structure 4 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:79180
KEGG GENES KEGG GENES(79180)
GeneCard GeneCardEFHD2*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000035280
Predicted CDS 36..758;  240[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.846
Database links RefSeq NP_077305
UniProt Q96C19
CCDS CCDS155

Motif information
ORF

length(240),orf(36:758)
MATDELATKLSRRLQMEGEGGGETPEQPGLNGAAAAAAGAPDEAAEALGS
ADCELSAKLLRRADLNQGIGEPQSPSRRVFNPYTEFKEFSRKQIKDMEKM
FKQYDAGRDGFIDLMELKLMMEKLGAPQTHLGLKNMIKEVDEDFDSKLSF
REFLLIFRKAAAGELQEDSGLCVLARLSEIDVSSEGVKGAKSFFEAKVQA
INVSSRFEEEIKAEQEERKKQAEEMKQRKAAFKELQSTFK*
a.a.
length
InterPro Name
length(73), motif(87:159) 73 IPR011992 EF-hand domain pair [Domain]
length(36), motif(92:127) 36 IPR002048 EF-hand domain [Domain]
length(29), motif(96:124) 29 IPR002048 EF-hand domain [Domain]
length(58), motif(98:155) 58 IPR011992 EF-hand domain pair [Domain]
length(36), motif(128:163) 36 IPR002048 EF-hand domain [Domain]
length(29), motif(132:160) 29 IPR002048 EF-hand domain [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000258918
H-Inv cluster ID Locus viewHIX0000150
Accession number BC007233.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition EF-hand domain-containing protein D2; Swiprosin-1;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q96C19)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 11788997152741141548933416710414169642431708198318669648186919761911865519608861196903322006823121269460ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol EFHD2
HGNC aliases "EF hand domain containing 2"
HGNC name EF-hand domain family, member D2
DDBJ EFHD2
UniProt EFHD2
EC number NA
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000035280
No. of interaction NA
Interaction partner(s) NA
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:79180
KEGG GENES KEGG GENES(79180)
GeneCard GeneCardEFHD2*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function calcium ion binding (GO:0005509); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT cytosol;  nuclear; 
Target P Other
SOSUI soluble protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
87 159 1s6iA 1e-10 17.8 73/182 a.39.1.5
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsB110303; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 217992_s_at;  222483_at; 
HG-U133A 217992_s_at; 
HG-U133A_2 217992_s_at; 
HG-U133B 222483_at; 
HG-U133_Plus_2 217992_s_at;  222483_at; 
HG-U95 47488_at;  48094_at; 
HG-U95A NA
HG-U95B 47488_at;  48094_at; 
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2321780;  2321781;  2321783;  2321785;  2321788;  2321789;  2321790;  2321791;  2321792;  2321793;  2397685; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P23443; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P23443;  A_24_P251053; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
24 .. 24 G/T rs112036425 + 5'UTR
169 .. 169 C/T rs190806484 + CDS Nonsynonymous[Ala45Val]
212 .. 212 G/T rs141227487 + CDS Synonymous[Leu59Leu]
232 .. 232 A/C rs200261158 + CDS Nonsynonymous[Asn66Thr]
243 .. 243 G/C rs149462238 + CDS Nonsynonymous[Gly70Arg]
249 .. 249 C/T rs140640103 + CDS Nonsynonymous[Pro72Ser]
256 .. 256 C/A rs142877697 + CDS AA-STOP[Ser74*]
302 .. 302 C/G rs12131549 + CDS Nonsynonymous[Phe89Leu]
334 .. 334 T/G rs148454740 + CDS Nonsynonymous[Met100Arg]
356 .. 356 G/A rs34866686 + CDS Synonymous[Gly107Gly]
362 .. 362 C/T rs12093459 + CDS Synonymous[Asp109Asp]
375 .. 375 C/G rs146542005 + CDS Nonsynonymous[Leu114Val]
406 .. 406 T/C rs199599184 + CDS Nonsynonymous[Leu124Pro]
450 .. 450 G/T rs201934929 + CDS AA-STOP[Glu139*]
508 .. 508 G/A rs145159120 + CDS Nonsynonymous[Arg158His]
517 .. 517 C/T rs199890810 + CDS Nonsynonymous[Ala161Val]
521 .. 521 C/T rs148984140 + CDS Synonymous[Ala162Ala]
548 .. 548 G/A rs141672253 + CDS Synonymous[Leu171Leu]
562 .. 562 G/A rs202209155 + CDS Nonsynonymous[Arg176His]
578 .. 578 C/T rs145804473 + CDS Synonymous[Asp181Asp]
587 .. 587 T/C rs142944509 + CDS Synonymous[Ser184Ser]
596 .. 596 C/T rs150387400 + CDS Synonymous[Val187Val]
632 .. 632 G/C rs144013883 + CDS Nonsynonymous[Gln199His]
641 .. 641 C/T rs144280691 + CDS Synonymous[Asn202Asn]
725 .. 725 G/A rs143546832 + CDS Synonymous[Ala230Ala]
726 .. 726 G/T rs140590361 + CDS Nonsynonymous[Ala231Ser]
759 .. 759 C/T rs77815160 + 3'UTR
763 .. 763 G/A rs115830229 + 3'UTR
776 .. 776 C/T rs201530565 + 3'UTR
777 .. 777 G/A rs201281899 + 3'UTR
786 .. 786 C/T rs3765372 + 3'UTR
839 .. 839 T/C rs11546436 + 3'UTR
860 .. 860 C/G/T rs11546434 + 3'UTR
896 .. 896 G/A rs188782434 + 3'UTR
1035 .. 1035 C/T rs181508240 + 3'UTR
1082 .. 1082 C/T rs11546433 + 3'UTR
1214 .. 1214 A/G rs6695499 + 3'UTR
1266 .. 1266 A/T rs112780652 + 3'UTR
1293 .. 1293 C/T rs41270247 + 3'UTR
1313 .. 1313 C/T rs117944029 + 3'UTR
1340 .. 1340 G/C rs6695620 + 3'UTR
1440 .. 1440 G/T rs113663027 + 3'UTR
1495 .. 1495 C/T rs41270249 + 3'UTR
1507 .. 1507 G/A rs144211637 + 3'UTR
1549 .. 1549 C/A rs111823605 + 3'UTR
1571 .. 1571 G/C rs146569598 + 3'UTR
1696 .. 1696 G/A rs185744822 + 3'UTR
1776 .. 1776 C/T rs117492771 + 3'UTR
1944 .. 1944 C/T rs115472852 + 3'UTR
2007 .. 2007 A/T rs11546437 + 3'UTR
2095 .. 2095 C/T rs141287039 + 3'UTR
2096 .. 2096 G/A rs190553677 + 3'UTR
2097 .. 2097 C/T rs11546435 - 3'UTR
2180 .. 2180 G/A rs116128102 + 3'UTR
2235 .. 2235 T/C rs181021774 + 3'UTR
2329 .. 2329 C/G rs184321296 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer