CAPN14 (calpain 14) - Rat Genome Database

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Gene: CAPN14 (calpain 14) Homo sapiens
Analyze
Symbol: CAPN14
Name: calpain 14
RGD ID: 1352333
HGNC Page HGNC:16664
Description: Predicted to enable calcium-dependent cysteine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be active in cytoplasm. Implicated in eosinophilic esophagitis. Biomarker of eosinophilic esophagitis.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: calcium-activated neutral proteinase 14; calpain-14; CANP 14; FLJ54788
RGD Orthologs
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
GRCh38231,173,056 - 31,233,957 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl231,173,056 - 31,233,858 (-)EnsemblGRCh38hg38GRCh38
GRCh37231,395,922 - 31,456,823 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36231,249,426 - 31,310,228 (-)NCBINCBI36Build 36hg18NCBI36
Celera231,238,630 - 31,283,129 (-)NCBICelera
Cytogenetic Map2p23.1NCBI
HuRef231,133,588 - 31,178,077 (-)NCBIHuRef
CHM1_1231,326,254 - 31,371,020 (-)NCBICHM1_1
T2T-CHM13v2.0231,217,215 - 31,278,121 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process
proteolysis  (IBA,IEA)

Cellular Component
cytoplasm  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. Kottyan LC, etal., Nat Genet. 2014 Aug;46(8):895-900. doi: 10.1038/ng.3033. Epub 2014 Jul 13.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. GWAS identifies four novel eosinophilic esophagitis loci. Sleiman PM, etal., Nat Commun. 2014 Nov 19;5:5593. doi: 10.1038/ncomms6593.
Additional References at PubMed
PMID:10964513   PMID:11675017   PMID:14702039   PMID:21873635   PMID:23867815   PMID:28131390   PMID:30626591   PMID:33008138   PMID:33446329   PMID:34857952  


Genomics

Comparative Map Data
CAPN14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38231,173,056 - 31,233,957 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl231,173,056 - 31,233,858 (-)EnsemblGRCh38hg38GRCh38
GRCh37231,395,922 - 31,456,823 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36231,249,426 - 31,310,228 (-)NCBINCBI36Build 36hg18NCBI36
Celera231,238,630 - 31,283,129 (-)NCBICelera
Cytogenetic Map2p23.1NCBI
HuRef231,133,588 - 31,178,077 (-)NCBIHuRef
CHM1_1231,326,254 - 31,371,020 (-)NCBICHM1_1
T2T-CHM13v2.0231,217,215 - 31,278,121 (-)NCBIT2T-CHM13v2.0
Capn14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495546912,899,174 - 12,929,408 (-)NCBIChiLan1.0ChiLan1.0
CAPN14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21295,292,547 - 95,328,325 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A95,296,521 - 95,330,001 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A31,186,027 - 31,245,818 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A31,256,702 - 31,317,389 (-)NCBIpanpan1.1PanPan1.1panPan2
CAPN14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11724,774,603 - 24,812,719 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1724,775,059 - 24,811,742 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1724,568,877 - 24,608,698 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01725,338,344 - 25,378,171 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1725,338,801 - 25,393,377 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11724,641,601 - 24,681,433 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01724,703,580 - 24,743,527 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01724,803,646 - 24,843,487 (-)NCBIUU_Cfam_GSD_1.0
Capn14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629268,886,875 - 68,914,055 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364931,925,510 - 1,949,585 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364931,925,510 - 1,949,116 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAPN14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3108,152,047 - 108,190,047 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13108,152,053 - 108,191,391 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23114,886,292 - 114,916,149 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CAPN14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11476,271,701 - 76,334,737 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1476,302,648 - 76,335,341 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604535,741,487 - 35,800,904 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Capn14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473812,978,086 - 13,006,327 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473812,975,145 - 13,033,344 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CAPN14
74 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
NM_001145122.1(CAPN14):c.1065G>A (p.Gly355=) single nucleotide variant Malignant melanoma [RCV000065556] Chr2:31193180 [GRCh38]
Chr2:31416046 [GRCh37]
Chr2:31269550 [NCBI36]
Chr2:2p23.1		 not provided
inv(2)(p21p23.2) inversion Endometrial carcinoma [RCV000659263] Chr2:29447680..42554394 [GRCh37]
Chr2:2p23.2-21		 likely pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh37/hg19 2p23.1(chr2:30371106-31490282)x3 copy number gain See cases [RCV000240369] Chr2:30371106..31490282 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1		 pathogenic
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 copy number gain See cases [RCV000447397] Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.1(chr2:31435578-31661595)x1 copy number loss See cases [RCV000510664] Chr2:31435578..31661595 [GRCh37]
Chr2:2p23.1		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001145122.2(CAPN14):c.697A>G (p.Thr233Ala) single nucleotide variant not specified [RCV004322979] Chr2:31200480 [GRCh38]
Chr2:31423346 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.758G>T (p.Gly253Val) single nucleotide variant not specified [RCV004327355] Chr2:31199501 [GRCh38]
Chr2:31422367 [GRCh37]
Chr2:2p23.1		 uncertain significance
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) inversion Small cell lung carcinoma [RCV000576833] Chr2:29446394..42552694 [GRCh37]
Chr2:2p23.2-21		 pathogenic
GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1 copy number loss not provided [RCV000682149] Chr2:29240004..32380876 [GRCh37]
Chr2:2p23.2-22.3		 pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001145122.2(CAPN14):c.1948A>G (p.Met650Val) single nucleotide variant not specified [RCV004289130] Chr2:31177050 [GRCh38]
Chr2:31399916 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.1(chr2:31434360-31658788)x1 copy number loss not provided [RCV000850033] Chr2:31434360..31658788 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1 copy number loss not provided [RCV000848001] Chr2:29940473..36813297 [GRCh37]
Chr2:2p23.2-22.2		 pathogenic
GRCh37/hg19 2p23.1(chr2:31281703-31789508)x1 copy number loss not provided [RCV000848596] Chr2:31281703..31789508 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.1(chr2:31434360-31658788)x1 copy number loss not provided [RCV000846167] Chr2:31434360..31658788 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.151G>A (p.Ala51Thr) single nucleotide variant not specified [RCV004298168] Chr2:31205297 [GRCh38]
Chr2:31428163 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
NM_001145122.2(CAPN14):c.783C>G (p.Ile261Met) single nucleotide variant not specified [RCV004301683] Chr2:31199476 [GRCh38]
Chr2:31422342 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.555C>T (p.Leu185=) single nucleotide variant not provided [RCV000961948] Chr2:31200622 [GRCh38]
Chr2:31423488 [GRCh37]
Chr2:2p23.1		 benign
NM_001145122.2(CAPN14):c.1249C>T (p.Leu417Phe) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260194]|not provided [RCV000890433] Chr2:31191964 [GRCh38]
Chr2:31414830 [GRCh37]
Chr2:2p23.1		 benign|uncertain significance
GRCh37/hg19 2p23.1(chr2:31274044-31549757)x3 copy number gain not provided [RCV001005240] Chr2:31274044..31549757 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NC_000002.12:g.31171210T>C single nucleotide variant not provided [RCV001356973] Chr2:31171210 [GRCh38]
Chr2:31394076 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.1(chr2:30878949-31608905)x3 copy number gain not provided [RCV001833010] Chr2:30878949..31608905 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.1(chr2:31431801-31661595)x1 copy number loss not provided [RCV001827762] Chr2:31431801..31661595 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.2-21(chr2:29899368-42441440) copy number loss not specified [RCV002053089] Chr2:29899368..42441440 [GRCh37]
Chr2:2p23.2-21		 pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_001145122.2(CAPN14):c.2038A>G (p.Met680Val) single nucleotide variant not specified [RCV004325318] Chr2:31174698 [GRCh38]
Chr2:31397564 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_001145122.2(CAPN14):c.355C>T (p.Arg119Trp) single nucleotide variant not specified [RCV004158131] Chr2:31202193 [GRCh38]
Chr2:31425059 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1946T>G (p.Leu649Trp) single nucleotide variant not specified [RCV004146114] Chr2:31177052 [GRCh38]
Chr2:31399918 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.41C>G (p.Ala14Gly) single nucleotide variant not specified [RCV004115232] Chr2:31205407 [GRCh38]
Chr2:31428273 [GRCh37]
Chr2:2p23.1		 likely benign
NM_001145122.2(CAPN14):c.706G>A (p.Gly236Ser) single nucleotide variant not specified [RCV004112720] Chr2:31200471 [GRCh38]
Chr2:31423337 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.2010A>G (p.Ile670Met) single nucleotide variant not specified [RCV004164242] Chr2:31176605 [GRCh38]
Chr2:31399471 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.559G>T (p.Gly187Cys) single nucleotide variant not specified [RCV004229901] Chr2:31200618 [GRCh38]
Chr2:31423484 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.800A>G (p.Lys267Arg) single nucleotide variant not specified [RCV004153593] Chr2:31197324 [GRCh38]
Chr2:31420190 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.473A>C (p.Glu158Ala) single nucleotide variant not specified [RCV004125018] Chr2:31201940 [GRCh38]
Chr2:31424806 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.945A>T (p.Glu315Asp) single nucleotide variant not specified [RCV004127961] Chr2:31194414 [GRCh38]
Chr2:31417280 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1234C>T (p.Arg412Cys) single nucleotide variant not specified [RCV004231841] Chr2:31191979 [GRCh38]
Chr2:31414845 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1940T>A (p.Ile647Asn) single nucleotide variant not specified [RCV004121677] Chr2:31177058 [GRCh38]
Chr2:31399924 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.866G>T (p.Trp289Leu) single nucleotide variant not specified [RCV004124307] Chr2:31197258 [GRCh38]
Chr2:31420124 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1570A>T (p.Thr524Ser) single nucleotide variant not specified [RCV004094649] Chr2:31187775 [GRCh38]
Chr2:31410641 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.358G>A (p.Val120Ile) single nucleotide variant not specified [RCV004242514] Chr2:31202190 [GRCh38]
Chr2:31425056 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1532A>T (p.Glu511Val) single nucleotide variant not specified [RCV004172979] Chr2:31187813 [GRCh38]
Chr2:31410679 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1318G>A (p.Glu440Lys) single nucleotide variant not specified [RCV004138251] Chr2:31189448 [GRCh38]
Chr2:31412314 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1834C>T (p.His612Tyr) single nucleotide variant not specified [RCV004173572] Chr2:31177767 [GRCh38]
Chr2:31400633 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1744T>C (p.Phe582Leu) single nucleotide variant not specified [RCV004186454] Chr2:31178546 [GRCh38]
Chr2:31401412 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.356G>A (p.Arg119Gln) single nucleotide variant not specified [RCV004077926] Chr2:31202192 [GRCh38]
Chr2:31425058 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.458G>A (p.Arg153His) single nucleotide variant not specified [RCV004139953] Chr2:31201955 [GRCh38]
Chr2:31424821 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.991G>A (p.Val331Ile) single nucleotide variant not specified [RCV004217417] Chr2:31193254 [GRCh38]
Chr2:31416120 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.406C>T (p.Arg136Trp) single nucleotide variant not specified [RCV004073982] Chr2:31202142 [GRCh38]
Chr2:31425008 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.472G>A (p.Glu158Lys) single nucleotide variant not specified [RCV004078095] Chr2:31201941 [GRCh38]
Chr2:31424807 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1160C>T (p.Pro387Leu) single nucleotide variant not specified [RCV004096795] Chr2:31192053 [GRCh38]
Chr2:31414919 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.510G>C (p.Lys170Asn) single nucleotide variant not specified [RCV004091906] Chr2:31201903 [GRCh38]
Chr2:31424769 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.516G>T (p.Leu172Phe) single nucleotide variant not specified [RCV004276733] Chr2:31201897 [GRCh38]
Chr2:31424763 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.956C>T (p.Thr319Met) single nucleotide variant not specified [RCV004258922] Chr2:31193289 [GRCh38]
Chr2:31416155 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.508A>G (p.Lys170Glu) single nucleotide variant not specified [RCV004273599] Chr2:31201905 [GRCh38]
Chr2:31424771 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1898G>T (p.Arg633Leu) single nucleotide variant not specified [RCV004257908] Chr2:31177100 [GRCh38]
Chr2:31399966 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1 copy number loss not specified [RCV003986376] Chr2:30814984..42798684 [GRCh37]
Chr2:2p23.1-21		 pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_001145122.2(CAPN14):c.454G>A (p.Asp152Asn) single nucleotide variant not specified [RCV004426934] Chr2:31201959 [GRCh38]
Chr2:31424825 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.790G>C (p.Val264Leu) single nucleotide variant not specified [RCV004426936] Chr2:31197334 [GRCh38]
Chr2:31420200 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.166A>G (p.Ile56Val) single nucleotide variant not specified [RCV004426923] Chr2:31205282 [GRCh38]
Chr2:31428148 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.305G>T (p.Trp102Leu) single nucleotide variant not specified [RCV004426932] Chr2:31202243 [GRCh38]
Chr2:31425109 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.344A>G (p.Asp115Gly) single nucleotide variant not specified [RCV004426933] Chr2:31202204 [GRCh38]
Chr2:31425070 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1423C>T (p.Pro475Ser) single nucleotide variant not specified [RCV004426921] Chr2:31189343 [GRCh38]
Chr2:31412209 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1801C>G (p.Arg601Gly) single nucleotide variant not specified [RCV004426926] Chr2:31177800 [GRCh38]
Chr2:31400666 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1950G>T (p.Met650Ile) single nucleotide variant not specified [RCV004426928] Chr2:31177048 [GRCh38]
Chr2:31399914 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1168G>T (p.Gly390Cys) single nucleotide variant not specified [RCV004426917] Chr2:31192045 [GRCh38]
Chr2:31414911 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1201G>A (p.Val401Met) single nucleotide variant not specified [RCV004426918] Chr2:31192012 [GRCh38]
Chr2:31414878 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1246C>A (p.Pro416Thr) single nucleotide variant not specified [RCV004426920] Chr2:31191967 [GRCh38]
Chr2:31414833 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.170G>A (p.Gly57Asp) single nucleotide variant not specified [RCV004426924] Chr2:31205278 [GRCh38]
Chr2:31428144 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1835A>G (p.His612Arg) single nucleotide variant not specified [RCV004426927] Chr2:31177766 [GRCh38]
Chr2:31400632 [GRCh37]
Chr2:2p23.1		 likely benign
NM_001145122.2(CAPN14):c.1966A>G (p.Met656Val) single nucleotide variant not specified [RCV004426929] Chr2:31177032 [GRCh38]
Chr2:31399898 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.2000G>T (p.Gly667Val) single nucleotide variant not specified [RCV004426930] Chr2:31176615 [GRCh38]
Chr2:31399481 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.2032A>G (p.Met678Val) single nucleotide variant not specified [RCV004426931] Chr2:31174704 [GRCh38]
Chr2:31397570 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.976C>T (p.His326Tyr) single nucleotide variant not specified [RCV004426938] Chr2:31193269 [GRCh38]
Chr2:31416135 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1519G>A (p.Val507Ile) single nucleotide variant not specified [RCV004426922] Chr2:31188329 [GRCh38]
Chr2:31411195 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.679G>A (p.Glu227Lys) single nucleotide variant not specified [RCV004426935] Chr2:31200498 [GRCh38]
Chr2:31423364 [GRCh37]
Chr2:2p23.1		 likely benign
NM_001145122.2(CAPN14):c.829C>T (p.Arg277Trp) single nucleotide variant not specified [RCV004426937] Chr2:31197295 [GRCh38]
Chr2:31420161 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.149C>T (p.Pro50Leu) single nucleotide variant not specified [RCV004600787] Chr2:31205299 [GRCh38]
Chr2:31428165 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1153T>G (p.Trp385Gly) single nucleotide variant not specified [RCV004600793] Chr2:31192060 [GRCh38]
Chr2:31414926 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.103G>A (p.Ala35Thr) single nucleotide variant not specified [RCV004600794] Chr2:31205345 [GRCh38]
Chr2:31428211 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.223C>T (p.Pro75Ser) single nucleotide variant not specified [RCV004600788] Chr2:31205225 [GRCh38]
Chr2:31428091 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.898A>G (p.Ser300Gly) single nucleotide variant not specified [RCV004600789] Chr2:31194461 [GRCh38]
Chr2:31417327 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.5C>G (p.Ser2Cys) single nucleotide variant not specified [RCV004600795] Chr2:31205443 [GRCh38]
Chr2:31428309 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1162G>C (p.Glu388Gln) single nucleotide variant not specified [RCV004600792] Chr2:31192051 [GRCh38]
Chr2:31414917 [GRCh37]
Chr2:2p23.1		 likely benign
NM_001145122.2(CAPN14):c.1903G>A (p.Gly635Ser) single nucleotide variant not specified [RCV004600790] Chr2:31177095 [GRCh38]
Chr2:31399961 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.110G>A (p.Cys37Tyr) single nucleotide variant not specified [RCV004600791] Chr2:31205338 [GRCh38]
Chr2:31428204 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p24.1-22.2(chr2:20938401-37327210)x3 copy number gain not provided [RCV004819299] Chr2:20938401..37327210 [GRCh37]
Chr2:2p24.1-22.2		 pathogenic
NM_001145122.2(CAPN14):c.665G>C (p.Trp222Ser) single nucleotide variant not specified [RCV004892665] Chr2:31200512 [GRCh38]
Chr2:31423378 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1489T>A (p.Phe497Ile) single nucleotide variant not specified [RCV004892666] Chr2:31189277 [GRCh38]
Chr2:31412143 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.293T>C (p.Val98Ala) single nucleotide variant not specified [RCV004892667] Chr2:31203072 [GRCh38]
Chr2:31425938 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.547G>A (p.Ala183Thr) single nucleotide variant not specified [RCV004892668] Chr2:31201866 [GRCh38]
Chr2:31424732 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.746G>A (p.Gly249Glu) single nucleotide variant not specified [RCV004898168] Chr2:31199513 [GRCh38]
Chr2:31422379 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.192G>T (p.Lys64Asn) single nucleotide variant not specified [RCV004898169] Chr2:31205256 [GRCh38]
Chr2:31428122 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.763G>A (p.Ala255Thr) single nucleotide variant not specified [RCV004898170] Chr2:31199496 [GRCh38]
Chr2:31422362 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_001145122.2(CAPN14):c.1447A>G (p.Lys483Glu) single nucleotide variant not specified [RCV004898171] Chr2:31189319 [GRCh38]
Chr2:31412185 [GRCh37]
Chr2:2p23.1		 likely benign
NM_001145122.2(CAPN14):c.719A>C (p.His240Pro) single nucleotide variant not specified [RCV004898172] Chr2:31200458 [GRCh38]
Chr2:31423324 [GRCh37]
Chr2:2p23.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2327
Count of miRNA genes:843
Interacting mature miRNAs:976
Transcripts:ENST00000398824, ENST00000403897, ENST00000444918
Prediction methods:Microtar, Miranda, Rnahybrid
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
406962113GWAS611089_Heosinophilic esophagitis QTL GWAS611089 (human)3e-10eosinophilic esophagitis23118842131188422Human
596956501GWAS1076020_Hlow density lipoprotein cholesterol measurement, response to antipsychotic drug QTL GWAS1076020 (human)0.000003low density lipoprotein cholesterol measurement, response to antipsychotic drugblood low density lipoprotein cholesterol level (CMO:0000053)23119239731192398Human
597425135GWAS1521209_Htype 2 diabetes mellitus QTL GWAS1521209 (human)0.000003type 2 diabetes mellitus23121975631219757Human
406962372GWAS611348_Heosinophilic esophagitis QTL GWAS611348 (human)5e-10eosinophilic esophagitis23117954131179542Human
597127599GWAS1223673_Heosinophilic esophagitis QTL GWAS1223673 (human)3e-16eosinophilic esophagitis23117950431179505Human
597614902GWAS1671762_Hbreast disease QTL GWAS1671762 (human)2e-11breast disease23119028231190283Human
597345398GWAS1441472_Hlow density lipoprotein cholesterol measurement, response to antipsychotic drug QTL GWAS1441472 (human)0.000003low density lipoprotein cholesterol measurement, response to antipsychotic drugblood low density lipoprotein cholesterol level (CMO:0000053)23119239731192398Human
597354007GWAS1450081_Hbody height QTL GWAS1450081 (human)6e-08body height (VT:0001253)body height (CMO:0000106)23119221131192212Human
597021595GWAS1117669_Hendometriosis QTL GWAS1117669 (human)0.0000006endometriosis23120231931202320Human
597103881GWAS1199955_Hplatelet component distribution width QTL GWAS1199955 (human)2e-12platelet component distribution widthplatelet distribution width (CMO:0001350)23118016931180170Human

Markers in Region
D2S2283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,434,496 - 31,434,763UniSTSGRCh37
Build 36231,288,000 - 31,288,267RGDNCBI36
Celera231,277,210 - 31,277,481RGD
Cytogenetic Map2p23.1-p21UniSTS
HuRef231,172,162 - 31,172,429UniSTS
Marshfield Genetic Map250.65UniSTS
Marshfield Genetic Map250.65RGD
Genethon Genetic Map254.1UniSTS
TNG Radiation Hybrid Map222557.0UniSTS
deCODE Assembly Map255.03UniSTS
Stanford-G3 RH Map21343.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2215.8UniSTS
GeneMap99-G3 RH Map21338.0UniSTS
G59706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,450,432 - 31,450,544UniSTSGRCh37
Build 36231,303,936 - 31,304,048RGDNCBI36
Celera231,293,150 - 31,293,262RGD
Cytogenetic Map2p23.1-p21UniSTS
HuRef231,188,098 - 31,188,210UniSTS
TNG Radiation Hybrid Map222538.0UniSTS
SHGC-105147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,408,462 - 31,408,747UniSTSGRCh37
Build 36231,261,966 - 31,262,251RGDNCBI36
Celera231,251,173 - 31,251,458RGD
Cytogenetic Map2p23.1-p21UniSTS
HuRef231,146,128 - 31,146,413UniSTS
TNG Radiation Hybrid Map222580.0UniSTS
D2S2741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,450,418 - 31,450,544UniSTSGRCh37
Build 36231,303,922 - 31,304,048RGDNCBI36
Celera231,293,136 - 31,293,262RGD
Cytogenetic Map2p23.1-p21UniSTS
HuRef231,188,084 - 31,188,210UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1193 2318 2574 2196 4866 1568 2152 6 505 1805 348 2236 6645 6240 45 3663 770 1698 1537 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_939683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_939684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA743820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX091474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC347418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC372029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000398824   ⟹   ENSP00000381805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl231,173,056 - 31,233,858 (-)Ensembl
Ensembl Acc Id: ENST00000403897   ⟹   ENSP00000385247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl231,173,056 - 31,217,515 (-)Ensembl
RefSeq Acc Id: NM_001145122   ⟹   NP_001138594
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,173,056 - 31,217,515 (-)NCBI
GRCh37231,395,922 - 31,456,724 (-)NCBI
Celera231,238,630 - 31,283,129 (-)RGD
HuRef231,133,588 - 31,178,077 (-)RGD
CHM1_1231,326,254 - 31,371,020 (-)NCBI
T2T-CHM13v2.0231,217,215 - 31,261,675 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321270   ⟹   NP_001308199
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,173,056 - 31,233,957 (-)NCBI
CHM1_1231,326,254 - 31,387,432 (-)NCBI
T2T-CHM13v2.0231,217,215 - 31,278,121 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532864   ⟹   XP_011531166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,173,056 - 31,233,957 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532865   ⟹   XP_011531167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,173,056 - 31,233,957 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047444407   ⟹   XP_047300363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,173,056 - 31,233,957 (-)NCBI
RefSeq Acc Id: XM_054342130   ⟹   XP_054198105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0231,217,215 - 31,278,121 (-)NCBI
RefSeq Acc Id: XM_054342131   ⟹   XP_054198106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0231,217,215 - 31,278,121 (-)NCBI
RefSeq Acc Id: XM_054342132   ⟹   XP_054198107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0231,217,215 - 31,278,121 (-)NCBI
RefSeq Acc Id: NP_001138594   ⟸   NM_001145122
- Peptide Label: isoform 1
- UniProtKB: B3KRU9 (UniProtKB/Swiss-Prot),   A8MX76 (UniProtKB/Swiss-Prot),   B7Z467 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531166   ⟸   XM_011532864
- Peptide Label: isoform X1
- UniProtKB: B3KRU9 (UniProtKB/Swiss-Prot),   A8MX76 (UniProtKB/Swiss-Prot),   B7Z467 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531167   ⟸   XM_011532865
- Peptide Label: isoform X1
- UniProtKB: B3KRU9 (UniProtKB/Swiss-Prot),   A8MX76 (UniProtKB/Swiss-Prot),   B7Z467 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308199   ⟸   NM_001321270
- Peptide Label: isoform 2
- UniProtKB: A8MX76 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000381805   ⟸   ENST00000398824
Ensembl Acc Id: ENSP00000385247   ⟸   ENST00000403897
RefSeq Acc Id: XP_047300363   ⟸   XM_047444407
- Peptide Label: isoform X1
- UniProtKB: A8MX76 (UniProtKB/Swiss-Prot),   B3KRU9 (UniProtKB/Swiss-Prot),   B7Z467 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198105   ⟸   XM_054342130
- Peptide Label: isoform X1
- UniProtKB: B3KRU9 (UniProtKB/Swiss-Prot),   A8MX76 (UniProtKB/Swiss-Prot),   B7Z467 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198106   ⟸   XM_054342131
- Peptide Label: isoform X1
- UniProtKB: B3KRU9 (UniProtKB/Swiss-Prot),   A8MX76 (UniProtKB/Swiss-Prot),   B7Z467 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198107   ⟸   XM_054342132
- Peptide Label: isoform X1
- UniProtKB: B3KRU9 (UniProtKB/Swiss-Prot),   A8MX76 (UniProtKB/Swiss-Prot),   B7Z467 (UniProtKB/TrEMBL)
Protein Domains
Calpain catalytic   EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8MX76-F1-model_v2 AlphaFold A8MX76 1-684 view protein structure

Promoters
RGD ID:6796937
Promoter ID:HG_KWN:32091
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001145122
Position:
Human AssemblyChrPosition (strand)Source
Build 36231,293,861 - 31,294,361 (-)MPROMDB
RGD ID:6796942
Promoter ID:HG_KWN:32093
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000398824,   OTTHUMT00000216810,   OTTHUMT00000325009
Position:
Human AssemblyChrPosition (strand)Source
Build 36231,310,249 - 31,310,749 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16664 AgrOrtholog
COSMIC CAPN14 COSMIC
Ensembl Genes ENSG00000214711 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000398824.6 UniProtKB/TrEMBL
  ENST00000403897 ENTREZGENE
  ENST00000403897.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cysteine proteinases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000214711 GTEx
HGNC ID HGNC:16664 ENTREZGENE
Human Proteome Map CAPN14 Human Proteome Map
InterPro C2_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calpain_cysteine_protease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calpain_domain_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calpain_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calpain_III_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_cys_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C2_calpain_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:440854 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 440854 ENTREZGENE
OMIM 610229 OMIM
PANTHER CALPAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALPAIN-14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Calpain_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134888839 PharmGKB
PRINTS CALPAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CALPAIN_CAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIOL_PROTEASE_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART calpain_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CysPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49758 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MX76 ENTREZGENE
  B3KRU9 ENTREZGENE
  B7Z467 ENTREZGENE, UniProtKB/TrEMBL
  CAN14_HUMAN UniProtKB/Swiss-Prot
  F1LLU4_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KRU9 UniProtKB/Swiss-Prot