EFCAB14 (EF-hand calcium binding domain 14) - Rat Genome Database

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Gene: EFCAB14 (EF-hand calcium binding domain 14) Homo sapiens
Analyze
Symbol: EFCAB14
Name: EF-hand calcium binding domain 14
RGD ID: 1605111
HGNC Page HGNC:29051
Description: Predicted to enable calcium ion binding activity. Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: EF-hand calcium-binding domain-containing protein 14; EF-hand domain-containing protein KIAA0494; hypothetical protein LOC9813; KIAA0494; RP11-8J9.3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: EFCAB14P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38146,675,159 - 46,719,114 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl146,674,659 - 46,719,146 (-)EnsemblGRCh38hg38GRCh38
GRCh37147,140,831 - 47,184,786 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36146,913,420 - 46,957,323 (-)NCBINCBI36Build 36hg18NCBI36
Celera145,428,182 - 45,472,087 (-)NCBICelera
Cytogenetic Map1p33NCBI
HuRef145,256,327 - 45,300,230 (-)NCBIHuRef
CHM1_1147,257,836 - 47,301,734 (-)NCBICHM1_1
T2T-CHM13v2.0146,552,399 - 46,596,351 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9455484   PMID:12477932   PMID:14702039   PMID:15489334   PMID:17672918   PMID:19322201   PMID:22095909   PMID:23455922   PMID:25852190   PMID:26186194   PMID:27107014   PMID:28514442  
PMID:31586073   PMID:32707033   PMID:33961781   PMID:35271311   PMID:36736316  


Genomics

Comparative Map Data
EFCAB14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38146,675,159 - 46,719,114 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl146,674,659 - 46,719,146 (-)EnsemblGRCh38hg38GRCh38
GRCh37147,140,831 - 47,184,786 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36146,913,420 - 46,957,323 (-)NCBINCBI36Build 36hg18NCBI36
Celera145,428,182 - 45,472,087 (-)NCBICelera
Cytogenetic Map1p33NCBI
HuRef145,256,327 - 45,300,230 (-)NCBIHuRef
CHM1_1147,257,836 - 47,301,734 (-)NCBICHM1_1
T2T-CHM13v2.0146,552,399 - 46,596,351 (-)NCBIT2T-CHM13v2.0
Efcab14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394115,594,914 - 115,634,590 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4115,594,941 - 115,634,524 (+)EnsemblGRCm39 Ensembl
GRCm384115,737,716 - 115,777,393 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4115,737,744 - 115,777,327 (+)EnsemblGRCm38mm10GRCm38
MGSCv374115,410,678 - 115,449,932 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364115,236,005 - 115,275,259 (+)NCBIMGSCv36mm8
Celera4114,475,708 - 114,514,923 (+)NCBICelera
Cytogenetic Map4D1NCBI
cM Map453.06NCBI
Efcab14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85134,454,908 - 134,493,714 (+)NCBIGRCr8
mRatBN7.25129,218,139 - 129,258,628 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5129,218,424 - 129,258,625 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5131,829,477 - 131,868,485 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05133,584,348 - 133,623,355 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05133,606,497 - 133,645,507 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05134,594,012 - 134,632,168 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5134,593,517 - 134,633,935 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05138,378,398 - 138,418,288 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45136,000,971 - 136,039,727 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15136,006,646 - 136,043,451 (+)NCBI
Celera5127,753,648 - 127,791,352 (+)NCBICelera
Cytogenetic Map5q35NCBI
Efcab14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546411,619,964 - 11,657,295 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546411,619,010 - 11,653,516 (+)NCBIChiLan1.0ChiLan1.0
EFCAB14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21180,089,291 - 180,133,873 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11179,230,896 - 179,275,492 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0145,977,600 - 46,021,535 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1147,332,388 - 47,376,371 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl147,332,388 - 47,376,066 (-)Ensemblpanpan1.1panPan2
EFCAB14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11513,749,605 - 13,794,563 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1513,749,508 - 13,905,790 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1513,870,305 - 13,913,820 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01513,900,321 - 13,943,859 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1513,900,282 - 14,056,527 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11513,701,430 - 13,744,944 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01513,769,786 - 13,813,494 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01513,839,292 - 13,882,813 (+)NCBIUU_Cfam_GSD_1.0
Efcab14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505861,845,606 - 61,881,664 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647427,669,006 - 27,705,646 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647427,669,008 - 27,706,634 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EFCAB14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6164,777,970 - 164,821,367 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16164,777,972 - 164,821,371 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26152,321,774 - 152,363,918 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EFCAB14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12086,092,215 - 86,134,712 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2086,093,273 - 86,131,417 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603330,858,490 - 30,900,991 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Efcab14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249062,548,265 - 2,590,606 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EFCAB14
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3 copy number gain See cases [RCV000449344] Chr1:46747177..47280720 [GRCh37]
Chr1:1p34.1-33		 uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 copy number loss See cases [RCV000448358] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_014774.3(EFCAB14):c.98G>T (p.Arg33Leu) single nucleotide variant not specified [RCV004331804] Chr1:46717990 [GRCh38]
Chr1:47183662 [GRCh37]
Chr1:1p33		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p34.1-33(chr1:46372688-47188150)x3 copy number gain not provided [RCV000736482] Chr1:46372688..47188150 [GRCh37]
Chr1:1p34.1-33		 uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_014774.3(EFCAB14):c.1132A>G (p.Ser378Gly) single nucleotide variant not specified [RCV004304319] Chr1:46684545 [GRCh38]
Chr1:47150217 [GRCh37]
Chr1:1p33		 uncertain significance
GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3 copy number gain See cases [RCV001007440] Chr1:46768408..47174149 [GRCh37]
Chr1:1p34.1-33		 uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856) copy number loss not specified [RCV002053281] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3		 likely pathogenic
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_014774.3(EFCAB14):c.260C>T (p.Ala87Val) single nucleotide variant not specified [RCV004074607] Chr1:46716369 [GRCh38]
Chr1:47182041 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.619C>A (p.Leu207Ile) single nucleotide variant not specified [RCV004184165] Chr1:46691898 [GRCh38]
Chr1:47157570 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.650A>T (p.Asp217Val) single nucleotide variant not specified [RCV004126315] Chr1:46691867 [GRCh38]
Chr1:47157539 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.1118A>G (p.Lys373Arg) single nucleotide variant not specified [RCV004294235] Chr1:46684559 [GRCh38]
Chr1:47150231 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.454A>G (p.Ile152Val) single nucleotide variant not specified [RCV004251610] Chr1:46707932 [GRCh38]
Chr1:47173604 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.448G>C (p.Val150Leu) single nucleotide variant not specified [RCV004278995] Chr1:46707938 [GRCh38]
Chr1:47173610 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.1172A>G (p.Glu391Gly) single nucleotide variant not specified [RCV004347278] Chr1:46684505 [GRCh38]
Chr1:47150177 [GRCh37]
Chr1:1p33		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_014774.3(EFCAB14):c.110C>T (p.Pro37Leu) single nucleotide variant not specified [RCV004355598] Chr1:46717978 [GRCh38]
Chr1:47183650 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.1076A>G (p.Lys359Arg) single nucleotide variant not specified [RCV004384773] Chr1:46684601 [GRCh38]
Chr1:47150273 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.161T>C (p.Val54Ala) single nucleotide variant not specified [RCV004384777] Chr1:46717927 [GRCh38]
Chr1:47183599 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.1228A>G (p.Lys410Glu) single nucleotide variant not specified [RCV004384774] Chr1:46683384 [GRCh38]
Chr1:47149056 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.194A>G (p.Tyr65Cys) single nucleotide variant not specified [RCV004384779] Chr1:46716435 [GRCh38]
Chr1:47182107 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.1367A>T (p.Tyr456Phe) single nucleotide variant not specified [RCV004384776] Chr1:46678582 [GRCh38]
Chr1:47144254 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.168T>G (p.Asn56Lys) single nucleotide variant not specified [RCV004384778] Chr1:46717920 [GRCh38]
Chr1:47183592 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.1280C>G (p.Pro427Arg) single nucleotide variant not specified [RCV004384775] Chr1:46683332 [GRCh38]
Chr1:47149004 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.688A>G (p.Met230Val) single nucleotide variant not specified [RCV004384780] Chr1:46691829 [GRCh38]
Chr1:47157501 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.763G>C (p.Asp255His) single nucleotide variant not specified [RCV004384781] Chr1:46689619 [GRCh38]
Chr1:47155291 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.1177G>A (p.Ala393Thr) single nucleotide variant not specified [RCV004622234] Chr1:46684500 [GRCh38]
Chr1:47150172 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.68A>G (p.Lys23Arg) single nucleotide variant not specified [RCV004622230] Chr1:46718020 [GRCh38]
Chr1:47183692 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.100A>C (p.Thr34Pro) single nucleotide variant not specified [RCV004622232] Chr1:46717988 [GRCh38]
Chr1:47183660 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.569G>A (p.Gly190Glu) single nucleotide variant not specified [RCV004622231] Chr1:46696561 [GRCh38]
Chr1:47162233 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.868C>T (p.Leu290Phe) single nucleotide variant not specified [RCV004622229] Chr1:46688472 [GRCh38]
Chr1:47154144 [GRCh37]
Chr1:1p33		 uncertain significance
NM_014774.3(EFCAB14):c.885G>C (p.Met295Ile) single nucleotide variant not specified [RCV004622233] Chr1:46688455 [GRCh38]
Chr1:47154127 [GRCh37]
Chr1:1p33		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR130Bhsa-miR-130b-3pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:1863
Count of miRNA genes:963
Interacting mature miRNAs:1159
Transcripts:ENST00000371933, ENST00000459797, ENST00000479745, ENST00000481623, ENST00000484461, ENST00000487741, ENST00000544071
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2314561GLUCO47_HGlucose level QTL 47 (human)1.1Glucose level14477336070773360Human
407020727GWAS669703_Hchronic hepatitis C virus infection QTL GWAS669703 (human)0.000001chronic hepatitis C virus infection14671363846713639Human

Markers in Region
SHGC-74782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37147,178,764 - 47,179,003UniSTSGRCh37
Build 36146,951,351 - 46,951,590RGDNCBI36
Celera145,466,116 - 45,466,355RGD
Cytogenetic Map1p33UniSTS
HuRef145,294,259 - 45,294,498UniSTS
TNG Radiation Hybrid Map125866.0UniSTS
GeneMap99-GB4 RH Map1145.33UniSTS
WI-11938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37147,142,263 - 47,142,387UniSTSGRCh37
Build 36146,914,850 - 46,914,974RGDNCBI36
Celera145,429,614 - 45,429,738RGD
Cytogenetic Map1p33UniSTS
HuRef145,257,759 - 45,257,883UniSTS
GeneMap99-GB4 RH Map1145.91UniSTS
Whitehead-RH Map1167.6UniSTS
SHGC-81672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37147,149,384 - 47,149,677UniSTSGRCh37
Build 36146,921,971 - 46,922,264RGDNCBI36
Celera145,436,730 - 45,437,023RGD
Cytogenetic Map1p33UniSTS
HuRef145,264,875 - 45,265,168UniSTS
TNG Radiation Hybrid Map125814.0UniSTS
WI-18600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37147,140,855 - 47,140,955UniSTSGRCh37
Build 36146,913,442 - 46,913,542RGDNCBI36
Celera145,428,206 - 45,428,306RGD
Cytogenetic Map1p33UniSTS
HuRef145,256,351 - 45,256,451UniSTS
GeneMap99-GB4 RH Map1145.4UniSTS
Whitehead-RH Map1167.0UniSTS
SHGC-74789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37147,161,937 - 47,162,044UniSTSGRCh37
Build 36146,934,524 - 46,934,631RGDNCBI36
Celera145,449,283 - 45,449,390RGD
Cytogenetic Map1p33UniSTS
HuRef145,277,428 - 45,277,535UniSTS
TNG Radiation Hybrid Map125849.0UniSTS
GeneMap99-GB4 RH Map1145.61UniSTS
D1S3690  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p33UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map13q22.2UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map9q33UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2252 4968 1726 2351 5 623 1951 465 2269 7302 6469 53 3730 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000371933   ⟹   ENSP00000361001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,675,159 - 46,719,114 (-)Ensembl
Ensembl Acc Id: ENST00000459797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,681,985 - 46,719,123 (-)Ensembl
Ensembl Acc Id: ENST00000479745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,675,165 - 46,719,123 (-)Ensembl
Ensembl Acc Id: ENST00000481623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,675,165 - 46,692,310 (-)Ensembl
Ensembl Acc Id: ENST00000484461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,684,156 - 46,719,139 (-)Ensembl
Ensembl Acc Id: ENST00000487741   ⟹   ENSP00000474599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,678,290 - 46,689,636 (-)Ensembl
Ensembl Acc Id: ENST00000672422   ⟹   ENSP00000499873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,675,159 - 46,719,114 (-)Ensembl
Ensembl Acc Id: ENST00000672746   ⟹   ENSP00000500581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,678,461 - 46,718,180 (-)Ensembl
Ensembl Acc Id: ENST00000674263   ⟹   ENSP00000501323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,677,895 - 46,719,123 (-)Ensembl
Ensembl Acc Id: ENST00000674268   ⟹   ENSP00000501525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,674,659 - 46,719,139 (-)Ensembl
Ensembl Acc Id: ENST00000674302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,694,069 - 46,719,146 (-)Ensembl
Ensembl Acc Id: ENST00000674331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,707,236 - 46,718,661 (-)Ensembl
Ensembl Acc Id: ENST00000674415   ⟹   ENSP00000501464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,682,100 - 46,719,123 (-)Ensembl
Ensembl Acc Id: ENST00000674435   ⟹   ENSP00000501394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,675,165 - 46,719,136 (-)Ensembl
Ensembl Acc Id: ENST00000674495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,675,173 - 46,719,123 (-)Ensembl
RefSeq Acc Id: NM_014774   ⟹   NP_055589
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,675,159 - 46,719,114 (-)NCBI
GRCh37147,140,831 - 47,184,792 (-)NCBI
Build 36146,913,420 - 46,957,323 (-)NCBI Archive
Celera145,428,182 - 45,472,087 (-)RGD
HuRef145,256,327 - 45,300,230 (-)ENTREZGENE
CHM1_1147,257,836 - 47,301,734 (-)NCBI
T2T-CHM13v2.0146,552,399 - 46,596,351 (-)NCBI
Sequence:
RefSeq Acc Id: NP_055589   ⟸   NM_014774
- UniProtKB: D3DQ23 (UniProtKB/Swiss-Prot),   Q5SXB8 (UniProtKB/Swiss-Prot),   O75071 (UniProtKB/Swiss-Prot),   A0A804H3B5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000501464   ⟸   ENST00000674415
Ensembl Acc Id: ENSP00000501394   ⟸   ENST00000674435
Ensembl Acc Id: ENSP00000501323   ⟸   ENST00000674263
Ensembl Acc Id: ENSP00000501525   ⟸   ENST00000674268
Ensembl Acc Id: ENSP00000361001   ⟸   ENST00000371933
Ensembl Acc Id: ENSP00000474599   ⟸   ENST00000487741
Ensembl Acc Id: ENSP00000500581   ⟸   ENST00000672746
Ensembl Acc Id: ENSP00000499873   ⟸   ENST00000672422
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75071-F1-model_v2 AlphaFold O75071 1-495 view protein structure

Promoters
RGD ID:6855444
Promoter ID:EPDNEW_H887
Type:initiation region
Name:EFCAB14_1
Description:EF-hand calcium binding domain 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,719,104 - 46,719,164EPDNEW
RGD ID:6785855
Promoter ID:HG_KWN:2588
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014774,   UC001CQL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36146,957,169 - 46,957,669 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29051 AgrOrtholog
COSMIC EFCAB14 COSMIC
Ensembl Genes ENSG00000159658 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000371933 ENTREZGENE
  ENST00000371933.8 UniProtKB/Swiss-Prot
  ENST00000487741.6 UniProtKB/TrEMBL
  ENST00000672422.2 UniProtKB/TrEMBL
  ENST00000674263.1 UniProtKB/TrEMBL
  ENST00000674268.1 UniProtKB/TrEMBL
  ENST00000674415.1 UniProtKB/TrEMBL
  ENST00000674435.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000159658 GTEx
HGNC ID HGNC:29051 ENTREZGENE
Human Proteome Map EFCAB14 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFCAB14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9813 UniProtKB/Swiss-Prot
NCBI Gene 9813 ENTREZGENE
OMIM 619559 OMIM
PANTHER EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15717 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671630 PharmGKB
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6I8PIF8_HUMAN UniProtKB/TrEMBL
  A0A6I8PIP2_HUMAN UniProtKB/TrEMBL
  A0A6I8PS42_HUMAN UniProtKB/TrEMBL
  A0A6I8PU78_HUMAN UniProtKB/TrEMBL
  A0A804H3B5 ENTREZGENE, UniProtKB/TrEMBL
  D3DQ23 ENTREZGENE
  EFC14_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5SXB8 ENTREZGENE
  S4R3Q1_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DQ23 UniProtKB/Swiss-Prot
  Q5SXB8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-04 EFCAB14  EF-hand calcium binding domain 14  KIAA0494  KIAA0494  Symbol and/or name change 5135510 APPROVED