EFCAB8 (EF-hand calcium binding domain 8) - Rat Genome Database

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Gene: EFCAB8 (EF-hand calcium binding domain 8) Homo sapiens
Analyze
Symbol: EFCAB8
Name: EF-hand calcium binding domain 8
RGD ID: 2301262
HGNC Page HGNC:34532
Description: Predicted to enable calcium ion binding activity.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: EF-hand calcium-binding domain-containing protein 8; EF-hand domain-containing protein ENSP00000383366
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382032,858,923 - 32,961,845 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2032,858,923 - 32,961,845 (+)EnsemblGRCh38hg38GRCh38
GRCh372031,446,729 - 31,549,651 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362030,908,661 - 31,013,076 (+)NCBINCBI36Build 36hg18NCBI36
Celera2028,200,602 - 28,303,292 (+)NCBICelera
Cytogenetic Map20q11.21NCBI
HuRef2028,253,776 - 28,268,367 (+)NCBIHuRef
CHM1_12031,355,022 - 31,384,535 (+)NCBICHM1_1
T2T-CHM13v2.02034,585,603 - 34,688,526 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

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:11780052  


Genomics

Comparative Map Data
EFCAB8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382032,858,923 - 32,961,845 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2032,858,923 - 32,961,845 (+)EnsemblGRCh38hg38GRCh38
GRCh372031,446,729 - 31,549,651 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362030,908,661 - 31,013,076 (+)NCBINCBI36Build 36hg18NCBI36
Celera2028,200,602 - 28,303,292 (+)NCBICelera
Cytogenetic Map20q11.21NCBI
HuRef2028,253,776 - 28,268,367 (+)NCBIHuRef
CHM1_12031,355,022 - 31,384,535 (+)NCBICHM1_1
T2T-CHM13v2.02034,585,603 - 34,688,526 (+)NCBIT2T-CHM13v2.0
Efcab8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392153,615,231 - 153,686,672 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2153,621,851 - 153,686,671 (+)EnsemblGRCm39 Ensembl
GRCm382153,773,311 - 153,844,752 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2153,779,931 - 153,844,751 (+)EnsemblGRCm38mm10GRCm38
MGSCv372153,606,634 - 153,618,514 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362153,606,615 - 153,620,918 (+)NCBIMGSCv36mm8
Celera2159,625,748 - 159,637,634 (+)NCBICelera
Cytogenetic Map2H1NCBI
Efcab8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83162,717,381 - 162,783,900 (+)NCBIGRCr8
mRatBN7.23142,257,195 - 142,323,743 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3142,257,229 - 142,323,743 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.03149,259,684 - 149,326,182 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03155,638,634 - 155,703,450 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43144,161,795 - 144,225,579 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3140,998,446 - 141,066,191 (+)NCBICelera
Cytogenetic Map3q41NCBI
Efcab8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542228,269,996 - 28,337,345 (-)NCBIChiLan1.0ChiLan1.0
EFCAB8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22138,546,512 - 38,651,210 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12038,539,611 - 38,644,308 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02029,141,250 - 29,247,827 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12030,260,913 - 30,366,017 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2030,265,759 - 30,366,017 (+)Ensemblpanpan1.1panPan2
EFCAB8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12422,170,315 - 22,238,276 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2422,130,125 - 22,238,109 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2421,815,426 - 21,885,352 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02422,856,659 - 22,925,239 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12422,131,574 - 22,201,421 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02422,241,212 - 22,311,125 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02422,672,221 - 22,742,126 (+)NCBIUU_Cfam_GSD_1.0
Efcab8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640171,183,947 - 171,246,080 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493648519,619,695 - 19,677,243 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EFCAB8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1736,431,992 - 36,487,494 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11736,432,415 - 36,487,513 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21741,369,399 - 41,424,431 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EFCAB8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1237,238,115 - 37,287,583 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605089,574,988 - 89,666,892 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Efcab8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248426,321,306 - 6,391,517 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EFCAB8
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3 copy number gain See cases [RCV000135358] Chr20:31254983..33473080 [GRCh38]
Chr20:29842786..32060886 [GRCh37]
Chr20:29306447..31524547 [NCBI36]
Chr20:20q11.21		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 copy number gain See cases [RCV000141833] Chr20:32062768..35906606 [GRCh38]
Chr20:30650571..34494528 [GRCh37]
Chr20:30114232..33957942 [NCBI36]
Chr20:20q11.21-11.23		 pathogenic
NC_000020.11:g.32945675T>A single nucleotide variant Lung cancer [RCV000101534] Chr20:32945675 [GRCh38]
Chr20:31533481 [GRCh37]
Chr20:20q11.21		 uncertain significance
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3 copy number gain See cases [RCV000240436] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21		 pathogenic
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3 copy number gain See cases [RCV000448977] Chr20:24162775..31820857 [GRCh37]
Chr20:20p11.21-q11.21		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
Single allele duplication not provided [RCV000677978] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.21(chr20:31525778-31529177)x1 copy number loss not provided [RCV000741169] Chr20:31525778..31529177 [GRCh37]
Chr20:20q11.21		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23		 pathogenic
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857) copy number gain not specified [RCV002052707] Chr20:24162775..31820857 [GRCh37]
Chr20:20p11.21-q11.21		 likely pathogenic
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) copy number gain not specified [RCV002052709] Chr20:25442597..33761550 [GRCh37]
Chr20:20p11.21-q11.22		 pathogenic
NC_000020.10:g.(?_31189994)_(34287210_?)del deletion not provided [RCV001956104] Chr20:31189994..34287210 [GRCh37]
Chr20:20q11.21-11.22		 pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 copy number gain not provided [RCV002474532] Chr20:29833535..34815537 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_001143967.2(EFCAB8):c.525G>A (p.Leu175=) single nucleotide variant not provided [RCV003431288] Chr20:32885598 [GRCh38]
Chr20:31473404 [GRCh37]
Chr20:20q11.21		 likely benign
NM_001143967.2(EFCAB8):c.549G>A (p.Ser183=) single nucleotide variant not provided [RCV003431289] Chr20:32885622 [GRCh38]
Chr20:31473428 [GRCh37]
Chr20:20q11.21		 likely benign
GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3 copy number gain not specified [RCV003986134] Chr20:29917837..31886619 [GRCh37]
Chr20:20q11.21		 uncertain significance
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 copy number gain not provided [RCV001829151] Chr20:18665879..33903216 [GRCh37]
Chr20:20p11.23-q11.22		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1227
Count of miRNA genes:672
Interacting mature miRNAs:780
Transcripts:ENST00000400522, ENST00000439060, ENST00000457731, ENST00000524882, ENST00000533479
Prediction methods: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.

Markers in Region
SHGC-78691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,495,446 - 31,495,716UniSTSGRCh37
Build 362030,959,107 - 30,959,377RGDNCBI36
Celera2028,249,311 - 28,249,581RGD
Cytogenetic Map20q11.21UniSTS
HuRef2028,282,709 - 28,282,979UniSTS
RH121271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,495,944 - 31,496,214UniSTSGRCh37
Build 362030,959,605 - 30,959,875RGDNCBI36
Celera2028,249,809 - 28,250,079RGD
Cytogenetic Map20q11.21UniSTS
HuRef2028,283,207 - 28,283,477UniSTS
RH120402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,495,884 - 31,496,214UniSTSGRCh37
Build 362030,959,545 - 30,959,875RGDNCBI36
Celera2028,249,749 - 28,250,079RGD
Cytogenetic Map20q11.21UniSTS
HuRef2028,283,147 - 28,283,477UniSTS
D20S563E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,446,327 - 31,446,513UniSTSGRCh37
Build 362030,909,988 - 30,910,174RGDNCBI36
Celera2028,200,200 - 28,200,386RGD
Cytogenetic Map20q11.21UniSTS
HuRef2028,233,565 - 28,233,751UniSTS
GeneMap99-GB4 RH Map20190.92UniSTS
NCBI RH Map20286.9UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 163
Low 126 522 421 8 842 8 131 19 303 6 292 432 12 110
Below cutoff 2217 2368 1140 504 880 345 4075 2049 3006 235 875 1062 170 1182 2631 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001143967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL035071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000400522   ⟹   ENSP00000383366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2032,858,923 - 32,961,845 (+)Ensembl
RefSeq Acc Id: ENST00000524882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2032,917,060 - 32,920,219 (+)Ensembl
RefSeq Acc Id: ENST00000533479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2032,898,385 - 32,903,670 (+)Ensembl
RefSeq Acc Id: ENST00000618684   ⟹   ENSP00000481567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2032,863,793 - 32,878,811 (+)Ensembl
RefSeq Acc Id: NM_001143967   ⟹   NP_001137439
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,858,923 - 32,961,845 (+)NCBI
T2T-CHM13v2.02034,585,603 - 34,688,526 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451881   ⟹   XP_024307649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,875,960 - 32,961,845 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451882   ⟹   XP_024307650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,858,923 - 32,946,687 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451883   ⟹   XP_024307651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,858,923 - 32,958,524 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451884   ⟹   XP_024307652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,911,790 - 32,961,845 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451885   ⟹   XP_024307653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,858,923 - 32,918,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451886   ⟹   XP_024307654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,911,622 - 32,961,845 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451887   ⟹   XP_024307655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,912,800 - 32,961,845 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440146   ⟹   XP_047296102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,858,923 - 32,918,486 (+)NCBI
RefSeq Acc Id: XM_047440147   ⟹   XP_047296103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382032,858,923 - 32,918,388 (+)NCBI
RefSeq Acc Id: XM_054323433   ⟹   XP_054179408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02034,602,640 - 34,688,526 (+)NCBI
RefSeq Acc Id: XM_054323434   ⟹   XP_054179409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02034,585,603 - 34,673,331 (+)NCBI
RefSeq Acc Id: XM_054323435   ⟹   XP_054179410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02034,585,603 - 34,685,205 (+)NCBI
RefSeq Acc Id: XM_054323436   ⟹   XP_054179411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02034,585,603 - 34,645,165 (+)NCBI
RefSeq Acc Id: XM_054323437   ⟹   XP_054179412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02034,638,469 - 34,688,526 (+)NCBI
RefSeq Acc Id: XM_054323438   ⟹   XP_054179413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02034,585,603 - 34,645,129 (+)NCBI
RefSeq Acc Id: XM_054323439   ⟹   XP_054179414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02034,585,603 - 34,645,067 (+)NCBI
RefSeq Acc Id: XM_054323440   ⟹   XP_054179415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02034,638,301 - 34,688,526 (+)NCBI
RefSeq Acc Id: XM_054323441   ⟹   XP_054179416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02034,639,479 - 34,688,526 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: XP_024307651   ⟸   XM_024451883
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024307650   ⟸   XM_024451882
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024307653   ⟸   XM_024451885
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001137439   ⟸   NM_001143967
- UniProtKB: A0A096LNH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307649   ⟸   XM_024451881
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024307654   ⟸   XM_024451886
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024307652   ⟸   XM_024451884
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024307655   ⟸   XM_024451887
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000383366   ⟸   ENST00000400522
RefSeq Acc Id: ENSP00000481567   ⟸   ENST00000618684
RefSeq Acc Id: XP_047296102   ⟸   XM_047440146
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047296103   ⟸   XM_047440147
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054179410   ⟸   XM_054323435
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054179409   ⟸   XM_054323434
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054179411   ⟸   XM_054323436
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054179413   ⟸   XM_054323438
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054179414   ⟸   XM_054323439
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054179408   ⟸   XM_054323433
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054179415   ⟸   XM_054323440
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054179412   ⟸   XM_054323437
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054179416   ⟸   XM_054323441
- Peptide Label: isoform X7
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8MWE9-F1-model_v2 AlphaFold A8MWE9 1-144 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34532 AgrOrtholog
COSMIC EFCAB8 COSMIC
Ensembl Genes ENSG00000215529 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000400522 ENTREZGENE
  ENST00000400522.9 UniProtKB/TrEMBL
  ENST00000618684.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000215529 GTEx
HGNC ID HGNC:34532 ENTREZGENE
Human Proteome Map EFCAB8 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quinonprotein_ADH-like_supfam UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom UniProtKB/TrEMBL
  WD40_repeat UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/TrEMBL
NCBI Gene 388795 ENTREZGENE
PANTHER WD REPEAT-CONTAINING PROTEIN ON Y CHROMOSOME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 REPEAT DOMAIN 95 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam WD40 UniProtKB/TrEMBL
PharmGKB PA164718907 PharmGKB
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_1 UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/TrEMBL
SMART WD40 UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/TrEMBL
  SSF50998 UniProtKB/TrEMBL
UniProt A0A096LNH2 ENTREZGENE, UniProtKB/TrEMBL
  A8MWE9 ENTREZGENE, UniProtKB/Swiss-Prot