NECAB2 (N-terminal EF-hand calcium binding protein 2) - Rat Genome Database

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Gene: NECAB2 (N-terminal EF-hand calcium binding protein 2) Homo sapiens
Analyze
Symbol: NECAB2
Name: N-terminal EF-hand calcium binding protein 2
RGD ID: 1345623
HGNC Page HGNC
Description: Exhibits A2A adenosine receptor binding activity; identical protein binding activity; and type 5 metabotropic glutamate receptor binding activity. Involved in positive regulation of protein localization to membrane and regulation of signal transduction. Localizes to plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EF hand calcium binding protein 2; EF-hand calcium binding protein 2; EF-hand calcium-binding protein 2; EFCBP2; N-terminal EF-hand calcium-binding protein 2; neuronal calcium binding 2; neuronal calcium-binding protein 2; stip-2; synaptotagmin-interacting protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1683,968,244 - 84,002,776 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1683,968,632 - 84,002,776 (+)EnsemblGRCh38hg38GRCh38
GRCh381683,968,244 - 84,002,776 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371684,001,849 - 84,036,381 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361682,559,738 - 82,593,880 (+)NCBINCBI36hg18NCBI36
Build 341682,559,737 - 82,593,878NCBI
Celera1668,304,639 - 68,338,784 (+)NCBI
Cytogenetic Map16q23.3NCBI
HuRef1669,754,045 - 69,790,327 (+)NCBIHuRef
CHM1_11685,413,645 - 85,447,739 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:11641222   PMID:12044471   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15604093   PMID:16189514   PMID:16713569   PMID:17689978   PMID:18519826  
PMID:19694902   PMID:20379614   PMID:21516116   PMID:21873635   PMID:22157746   PMID:23455924   PMID:24722188   PMID:25416956   PMID:26843217   PMID:27107012   PMID:27107014   PMID:28514442  
PMID:29791485   PMID:32296183  


Genomics

Comparative Map Data
NECAB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1683,968,244 - 84,002,776 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1683,968,632 - 84,002,776 (+)EnsemblGRCh38hg38GRCh38
GRCh381683,968,244 - 84,002,776 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371684,001,849 - 84,036,381 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361682,559,738 - 82,593,880 (+)NCBINCBI36hg18NCBI36
Build 341682,559,737 - 82,593,878NCBI
Celera1668,304,639 - 68,338,784 (+)NCBI
Cytogenetic Map16q23.3NCBI
HuRef1669,754,045 - 69,790,327 (+)NCBIHuRef
CHM1_11685,413,645 - 85,447,739 (+)NCBICHM1_1
Necab2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398120,173,431 - 120,199,379 (+)NCBIGRCm39mm39
GRCm39 Ensembl8120,173,458 - 120,199,379 (+)Ensembl
GRCm388119,446,719 - 119,472,640 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8119,446,719 - 119,472,640 (+)EnsemblGRCm38mm10GRCm38
MGSCv378121,970,619 - 121,996,535 (+)NCBIGRCm37mm9NCBIm37
MGSCv368122,332,696 - 122,358,612 (+)NCBImm8
Celera8123,664,580 - 123,689,964 (+)NCBICelera
Cytogenetic Map8E1NCBI
Necab2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21947,501,351 - 47,527,722 (+)NCBI
Rnor_6.0 Ensembl1952,086,325 - 52,112,629 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01952,086,325 - 52,112,633 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01962,834,865 - 62,861,130 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41949,691,466 - 49,718,718 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11949,696,347 - 49,723,599 (+)NCBI
Celera1946,743,032 - 46,786,775 (+)NCBICelera
Cytogenetic Map19q12NCBI
Necab2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955564258,222 - 277,889 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955564257,781 - 279,937 (-)NCBIChiLan1.0ChiLan1.0
NECAB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11683,979,108 - 84,013,436 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1683,983,626 - 84,013,436 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01664,636,198 - 64,670,019 (+)NCBIMhudiblu_PPA_v0panPan3
NECAB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1568,313,699 - 68,342,253 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl568,314,000 - 68,378,311 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha568,327,774 - 68,357,105 (-)NCBI
ROS_Cfam_1.0568,612,120 - 68,641,500 (-)NCBI
UMICH_Zoey_3.1568,559,839 - 68,589,193 (-)NCBI
UNSW_CanFamBas_1.0568,396,250 - 68,425,583 (-)NCBI
UU_Cfam_GSD_1.0568,812,005 - 68,841,393 (-)NCBI
Necab2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934928,025,477 - 28,046,190 (-)NCBI
SpeTri2.0NW_0049366413,779,024 - 3,802,883 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NECAB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.164,598,752 - 4,641,450 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NECAB2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1569,380,328 - 69,413,985 (+)NCBI
Necab2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247463,552,719 - 3,574,124 (-)NCBI

Position Markers
L29692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371684,027,088 - 84,027,299UniSTSGRCh37
Build 361682,584,589 - 82,584,800RGDNCBI36
Celera1668,329,526 - 68,329,735RGD
Cytogenetic Map16q23.3UniSTS
HuRef1669,778,347 - 69,778,556UniSTS
G62802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371684,021,771 - 84,022,044UniSTSGRCh37
Build 361682,579,272 - 82,579,545RGDNCBI36
Celera1668,324,209 - 68,324,482RGD
Cytogenetic Map16q23.3UniSTS
HuRef1669,773,030 - 69,773,303UniSTS
TNG Radiation Hybrid Map1637811.0UniSTS
G44311  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q23.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1706
Count of miRNA genes:519
Interacting mature miRNAs:567
Transcripts:ENST00000305202, ENST00000564166, ENST00000565691, ENST00000566836, ENST00000567703
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.


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 120 362 125 123 125 52 1 2133 68 312 41 1
Low 1087 1407 751 285 903 286 1190 261 1286 232 503 796 7 1 600 647
Below cutoff 1284 1438 583 202 354 48 2943 1829 305 97 601 730 158 599 2019 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000305202   ⟹   ENSP00000307449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1683,968,632 - 84,002,776 (+)Ensembl
RefSeq Acc Id: ENST00000564166   ⟹   ENSP00000455713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1683,998,252 - 84,002,776 (+)Ensembl
RefSeq Acc Id: ENST00000565691   ⟹   ENSP00000457354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1683,971,451 - 84,002,776 (+)Ensembl
RefSeq Acc Id: ENST00000566836   ⟹   ENSP00000455322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1683,978,545 - 83,998,285 (+)Ensembl
RefSeq Acc Id: ENST00000567703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1683,993,403 - 83,998,298 (+)Ensembl
RefSeq Acc Id: ENST00000681513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1683,968,244 - 84,002,776 (+)Ensembl
RefSeq Acc Id: NM_001329748   ⟹   NP_001316677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,968,632 - 84,002,774 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329749   ⟹   NP_001316678
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,968,648 - 84,002,776 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019065   ⟹   NP_061938
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,968,244 - 84,002,776 (+)NCBI
GRCh371684,002,237 - 84,036,379 (+)RGD
Build 361682,559,738 - 82,593,880 (+)NCBI Archive
Celera1668,304,639 - 68,338,784 (+)RGD
HuRef1669,754,045 - 69,790,327 (+)ENTREZGENE
CHM1_11685,413,645 - 85,447,739 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023317   ⟹   XP_016878806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,971,363 - 84,002,776 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061938   ⟸   NM_019065
- Peptide Label: isoform 1
- UniProtKB: Q7Z6G3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878806   ⟸   XM_017023317
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001316677   ⟸   NM_001329748
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001316678   ⟸   NM_001329749
- Peptide Label: isoform 3
- UniProtKB: Q7Z6G3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000455713   ⟸   ENST00000564166
RefSeq Acc Id: ENSP00000457354   ⟸   ENST00000565691
RefSeq Acc Id: ENSP00000455322   ⟸   ENST00000566836
RefSeq Acc Id: ENSP00000307449   ⟸   ENST00000305202
Protein Domains
ABM   EF-hand

Promoters
RGD ID:7232995
Promoter ID:EPDNEW_H22244
Type:initiation region
Name:NECAB2_1
Description:N-terminal EF-hand calcium binding protein 2
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
GRCh381683,968,702 - 83,968,762EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 copy number loss See cases [RCV000051122] Chr16:83878992..87223838 [GRCh38]
Chr16:83912597..87257444 [GRCh37]
Chr16:82470098..85814945 [NCBI36]
Chr16:16q23.3-24.2
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3
pathogenic
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1 copy number loss See cases [RCV000053360] Chr16:81753762..85714791 [GRCh38]
Chr16:81787367..85748397 [GRCh37]
Chr16:80344868..84305898 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1 copy number loss See cases [RCV000053361] Chr16:83016872..85087809 [GRCh38]
Chr16:83050477..85121415 [GRCh37]
Chr16:81607978..83678916 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q23.3(chr16:83602431-84024341)x3 copy number gain See cases [RCV000053935] Chr16:83602431..84024341 [GRCh38]
Chr16:83636036..84057946 [GRCh37]
Chr16:82193537..82615447 [NCBI36]
Chr16:16q23.3
uncertain significance
GRCh38/hg38 16q23.3(chr16:83796168-84063463)x3 copy number gain See cases [RCV000053936] Chr16:83796168..84063463 [GRCh38]
Chr16:83829773..84097068 [GRCh37]
Chr16:82387274..82654569 [NCBI36]
Chr16:16q23.3
uncertain significance
NM_182981.2(OSGIN1):c.657C>T (p.Leu219=) single nucleotide variant Malignant melanoma [RCV000071252] Chr16:83965230 [GRCh38]
Chr16:83998835 [GRCh37]
Chr16:82556336 [NCBI36]
Chr16:16q23.3
not provided
NM_019065.2(NECAB2):c.460-3891C>T single nucleotide variant Lung cancer [RCV000100295] Chr16:83986603 [GRCh38]
Chr16:84020208 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1 copy number loss See cases [RCV000133929] Chr16:83399060..84908120 [GRCh38]
Chr16:83432665..84941726 [GRCh37]
Chr16:81990166..83499227 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3 copy number gain See cases [RCV000135758] Chr16:83878992..84908120 [GRCh38]
Chr16:83912597..84941726 [GRCh37]
Chr16:82470098..83499227 [NCBI36]
Chr16:16q23.3-24.1
pathogenic|uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1 copy number loss See cases [RCV000136504] Chr16:83687650..86073240 [GRCh38]
Chr16:83721255..86106846 [GRCh37]
Chr16:82278756..84664347 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3 copy number gain See cases [RCV000138549] Chr16:83478453..84036483 [GRCh38]
Chr16:83512058..84070088 [GRCh37]
Chr16:82069559..82627589 [NCBI36]
Chr16:16q23.3
uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1 copy number loss See cases [RCV000139413] Chr16:83763804..84558035 [GRCh38]
Chr16:83797409..84591641 [GRCh37]
Chr16:82354910..83149142 [NCBI36]
Chr16:16q23.3-24.1
likely pathogenic|uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3 copy number gain See cases [RCV000140831] Chr16:83763804..84276472 [GRCh38]
Chr16:83797409..84310078 [GRCh37]
Chr16:82354910..82867579 [NCBI36]
Chr16:16q23.3-24.1
uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1 copy number loss See cases [RCV000203439] Chr16:83553094..86098013 [GRCh37]
Chr16:16q23.3-24.1
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1 copy number loss See cases [RCV000240561] Chr16:83496909..84695933 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q23.3(chr16:83998698-84024074)x1 copy number loss See cases [RCV000447766] Chr16:83998698..84024074 [GRCh37]
Chr16:16q23.3
likely benign
GRCh37/hg19 16q23.3(chr16:83986845-84014686)x3 copy number gain See cases [RCV000447928] Chr16:83986845..84014686 [GRCh37]
Chr16:16q23.3
benign|likely benign
NM_019065.2(NECAB2):c.1132+8dup duplication not specified [RCV000455809] Chr16:84001919..84001920 [GRCh38]
Chr16:84035524..84035525 [GRCh37]
Chr16:16q23.3
benign
GRCh37/hg19 16q23.3(chr16:83903257-84174323)x1 copy number loss See cases [RCV000510687] Chr16:83903257..84174323 [GRCh37]
Chr16:16q23.3
likely benign
GRCh37/hg19 16q23.3-24.1(chr16:83926471-84215425)x1 copy number loss See cases [RCV000510184] Chr16:83926471..84215425 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss PARP Inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss PARP Inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3
likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
GRCh37/hg19 16q23.3(chr16:83253758-84134459)x1 copy number loss not provided [RCV000683850] Chr16:83253758..84134459 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83813294-84984350)x3 copy number gain not provided [RCV000739258] Chr16:83813294..84984350 [GRCh37]
Chr16:16q23.3-24.1
likely benign
GRCh37/hg19 16q23.3(chr16:83935523-84057571)x1 copy number loss not provided [RCV000739260] Chr16:83935523..84057571 [GRCh37]
Chr16:16q23.3
benign
GRCh37/hg19 16q23.3(chr16:84033088-84034448)x0 copy number loss not provided [RCV000739261] Chr16:84033088..84034448 [GRCh37]
Chr16:16q23.3
benign
GRCh37/hg19 16q23.3(chr16:84033450-84034500)x0 copy number loss not provided [RCV000739262] Chr16:84033450..84034500 [GRCh37]
Chr16:16q23.3
benign
GRCh37/hg19 16q23.3(chr16:84033538-84034129)x0 copy number loss not provided [RCV000739263] Chr16:84033538..84034129 [GRCh37]
Chr16:16q23.3
benign
GRCh37/hg19 16q23.3(chr16:84033538-84034733)x0 copy number loss not provided [RCV000739264] Chr16:84033538..84034733 [GRCh37]
Chr16:16q23.3
benign
GRCh37/hg19 16q23.3(chr16:84033592-84034129)x1 copy number loss not provided [RCV000739265] Chr16:84033592..84034129 [GRCh37]
Chr16:16q23.3
benign
GRCh37/hg19 16q23.3(chr16:84033592-84034552)x0 copy number loss not provided [RCV000739266] Chr16:84033592..84034552 [GRCh37]
Chr16:16q23.3
benign
GRCh37/hg19 16q23.3(chr16:83903257-84057905)x1 copy number loss not provided [RCV001006832] Chr16:83903257..84057905 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
GRCh37/hg19 16q23.3(chr16:83904100-84058759)x1 copy number loss not provided [RCV000845885] Chr16:83904100..84058759 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1 copy number loss not provided [RCV000849998] Chr16:79254648..84827672 [GRCh37]
Chr16:16q23.2-24.1
uncertain significance
GRCh37/hg19 16q23.3(chr16:83970585-84077491)x1 copy number loss not provided [RCV000845768] Chr16:83970585..84077491 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1 copy number loss not provided [RCV001006830] Chr16:83330709..84866927 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance
GRCh37/hg19 16q23.3(chr16:83853228-84189313)x1 copy number loss not provided [RCV001006831] Chr16:83853228..84189313 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
Single allele deletion Persistent fetal circulation syndrome [RCV001251455] Chr16:83931797..86285776 [GRCh37]
Chr16:16q23.3-24.1
likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3 copy number gain not provided [RCV001258657] Chr16:83866931..85276940 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23746 AgrOrtholog
COSMIC NECAB2 COSMIC
Ensembl Genes ENSG00000103154 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000307449 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000455322 UniProtKB/TrEMBL
  ENSP00000455713 UniProtKB/TrEMBL
  ENSP00000457354 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305202 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000564166 UniProtKB/TrEMBL
  ENST00000565691 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000566836 UniProtKB/TrEMBL
GTEx ENSG00000103154 GTEx
HGNC ID HGNC:23746 ENTREZGENE
Human Proteome Map NECAB2 Human Proteome Map
InterPro ABM_dom UniProtKB/Swiss-Prot
  Dimeric_a/b-barrel UniProtKB/Swiss-Prot
  EF-hand-dom_pair UniProtKB/Swiss-Prot
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
  NECAB1/2/3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54550 UniProtKB/Swiss-Prot
NCBI Gene 54550 ENTREZGENE
OMIM 618130 OMIM
PANTHER PTHR12178 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABM UniProtKB/Swiss-Prot
  EF-hand_8 UniProtKB/Swiss-Prot
PharmGKB PA162397412 PharmGKB
PROSITE ABM UniProtKB/Swiss-Prot
  EF_HAND_1 UniProtKB/Swiss-Prot
  EF_HAND_2 UniProtKB/Swiss-Prot
SMART EFh UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot
  SSF54909 UniProtKB/Swiss-Prot
UniProt H3BPH6_HUMAN UniProtKB/TrEMBL
  H3BQC7_HUMAN UniProtKB/TrEMBL
  L8E8I4_HUMAN UniProtKB/TrEMBL
  NECA2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A2RRG3 UniProtKB/Swiss-Prot
  H3BTW2 UniProtKB/Swiss-Prot
  O75547 UniProtKB/Swiss-Prot
  Q6ZSK0 UniProtKB/Swiss-Prot