Cabp7 (calcium binding protein 7) - Rat Genome Database

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Gene: Cabp7 (calcium binding protein 7) Rattus norvegicus
Analyze
Symbol: Cabp7
Name: calcium binding protein 7
RGD ID: 1359269
Description: Predicted to enable calcium ion binding activity. Predicted to be located in perinuclear region of cytoplasm and plasma membrane. Predicted to be active in trans-Golgi network membrane. Orthologous to human CABP7 (calcium binding protein 7); INTERACTS WITH 3,4-methylenedioxymethamphetamine; 6-propyl-2-thiouracil; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: calcium-binding protein 7; calneuron II; calneuron-2; calneuron-II; MGC94082; rCaBP7
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81483,822,322 - 83,832,667 (-)NCBIGRCr8
mRatBN7.21479,598,822 - 79,609,172 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1479,598,827 - 79,609,240 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1484,029,430 - 84,039,760 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01485,269,500 - 85,279,826 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01481,719,176 - 81,729,514 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01484,968,125 - 84,978,242 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1484,968,130 - 84,978,255 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01485,644,749 - 85,655,153 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41485,385,409 - 85,395,730 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11485,404,554 - 85,414,875 (-)NCBI
Celera1478,504,196 - 78,514,187 (-)NCBICelera
Cytogenetic Map14q21NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2. Calcium-binding proteins: intracellular sensors from the calmodulin superfamily. Haeseleer F, etal., Biochem Biophys Res Commun 2002 Jan 18;290(2):615-23.
3. GOA pipeline RGD automated data pipeline
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:17055077   PMID:19338761   PMID:19458041  


Genomics

Comparative Map Data
Cabp7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81483,822,322 - 83,832,667 (-)NCBIGRCr8
mRatBN7.21479,598,822 - 79,609,172 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1479,598,827 - 79,609,240 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1484,029,430 - 84,039,760 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01485,269,500 - 85,279,826 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01481,719,176 - 81,729,514 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01484,968,125 - 84,978,242 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1484,968,130 - 84,978,255 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01485,644,749 - 85,655,153 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41485,385,409 - 85,395,730 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11485,404,554 - 85,414,875 (-)NCBI
Celera1478,504,196 - 78,514,187 (-)NCBICelera
Cytogenetic Map14q21NCBI
CABP7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382229,720,003 - 29,731,833 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2229,720,003 - 29,731,833 (+)EnsemblGRCh38hg38GRCh38
GRCh372230,115,992 - 30,127,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362228,446,344 - 28,457,822 (+)NCBINCBI36Build 36hg18NCBI36
Build 342228,440,897 - 28,452,372NCBI
Celera2213,916,071 - 13,927,549 (+)NCBICelera
Cytogenetic Map22q12.2NCBI
HuRef2213,055,007 - 13,091,456 (+)NCBIHuRef
CHM1_12230,075,530 - 30,087,015 (+)NCBICHM1_1
T2T-CHM13v2.02230,183,366 - 30,195,196 (+)NCBIT2T-CHM13v2.0
Cabp7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39114,686,892 - 4,697,179 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl114,686,892 - 4,696,778 (-)EnsemblGRCm39 Ensembl
GRCm38114,736,892 - 4,747,179 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl114,736,892 - 4,746,778 (-)EnsemblGRCm38mm10GRCm38
MGSCv37114,638,824 - 4,646,781 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36114,638,824 - 4,646,781 (-)NCBIMGSCv36mm8
Celera115,239,312 - 5,247,542 (-)NCBICelera
Cytogenetic Map11A1NCBI
cM Map112.98NCBI
Cabp7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554553,977,593 - 3,981,646 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554553,977,977 - 3,981,646 (+)NCBIChiLan1.0ChiLan1.0
CABP7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22339,691,943 - 39,703,490 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12242,393,262 - 42,404,809 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02210,763,495 - 10,775,460 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CABP7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12622,916,556 - 22,927,377 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2622,916,480 - 22,924,979 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2622,787,556 - 22,798,267 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02623,290,075 - 23,300,795 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2623,289,181 - 23,298,514 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12623,000,305 - 23,011,018 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02623,262,878 - 23,273,568 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02623,322,632 - 23,333,327 (+)NCBIUU_Cfam_GSD_1.0
Cabp7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118112,214,425 - 112,218,732 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366573,651,265 - 3,653,908 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366573,651,999 - 3,655,162 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CABP7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1446,747,579 - 46,758,167 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11446,747,654 - 46,759,312 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21449,783,821 - 49,792,536 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CABP7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11912,601,696 - 12,613,246 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1912,601,875 - 12,615,775 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045113,534,963 - 113,546,754 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cabp7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247476,031,958 - 6,042,750 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247476,032,039 - 6,043,495 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Cabp7
24 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:201
Count of miRNA genes:143
Interacting mature miRNAs:158
Transcripts:ENSRNOT00000010439
Prediction methods:Miranda
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 (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2313089Bss81Bone structure and strength QTL 813.40.0001body length (VT:0001256)body length, nose to rump (CMO:0000079)143766971982669719Rat
9590294Uminl4Urine mineral level QTL 45.660.001urine mineral amount (VT:0015086)urine electrolyte level (CMO:0000593)1455624247100624247Rat
1582236Gluco22Glucose level QTL 223.30.0164blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)147341532392554092Rat
2300197Scl59Serum cholesterol level QTL 59blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)1455147478100147478Rat
70153Bp59Blood pressure QTL 593.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)146875779683368335Rat
70187Pancm5Pancreatic morphology QTL 516.7pancreas mass (VT:0010144)pancreas weight to body weight ratio (CMO:0000630)143032009280829842Rat
631523Pia13Pristane induced arthritis QTL 133.3joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)144079346098037301Rat
1582259Gluco23Glucose level QTL 233.10.0008blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1470053989104886043Rat
1582197Gluco27Glucose level QTL 273.40.0006blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)147341532392554092Rat
2313100Bss82Bone structure and strength QTL 8230.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)143766971982669719Rat
634328Hc5Hypercalciuria QTL 52.3urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)1458184885103184885Rat
1582250Gluco26Glucose level QTL 263.30.0009blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)147341532395876975Rat
2317879Alcrsp27Alcohol response QTL 273.30.63response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)1456631369101631369Rat
1641900Alcrsp11Alcohol response QTL 11alcohol metabolism trait (VT:0015089)blood ethanol level (CMO:0000535)1470053989104886043Rat
631839Niddm37Non-insulin dependent diabetes mellitus QTL 373.37blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)141103062295876975Rat
1582255Gluco29Glucose level QTL 293.10.0025blood glucose amount (VT:0000188)absolute change in blood glucose level area under curve (CMO:0002034)147341532392554092Rat
9589034Epfw11Epididymal fat weight QTL 1160.001epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)1455624247100624247Rat
1582209Gluco20Glucose level QTL 203.80.0005blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)147341532392554092Rat
2313048Bss84Bone structure and strength QTL 843.10.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)143766971982669719Rat
1300136Rf22Renal function QTL 223.9renal blood flow trait (VT:2000006)absolute change in renal vascular resistance (CMO:0001900)144226252995023211Rat
1549834Scl45Serum cholesterol level QTL 455.8blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)145002321195023211Rat
738037Hcas6Hepatocarcinoma susceptibility QTL 62.93liver integrity trait (VT:0010547)liver nonremodeling tumorous lesion volume to total liver volume ratio (CMO:0001464)143905723783368335Rat
2313084Bss83Bone structure and strength QTL 832.90.0001tibia size trait (VT:0100001)tibia midshaft endosteal cross-sectional area (CMO:0001716)143766971982669719Rat

Markers in Region
RH143960  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21479,599,378 - 79,599,480 (+)MAPPERmRatBN7.2
Rnor_6.01484,968,682 - 84,968,783NCBIRnor6.0
Rnor_5.01485,645,302 - 85,645,403UniSTSRnor5.0
RGSC_v3.41485,385,962 - 85,386,063UniSTSRGSC3.4
Celera1478,504,753 - 78,504,854UniSTS
Cytogenetic Map14q21UniSTS
N28202  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21479,598,963 - 79,599,149 (+)MAPPERmRatBN7.2
Rnor_6.01484,968,267 - 84,968,452NCBIRnor6.0
Rnor_5.01485,644,887 - 85,645,072UniSTSRnor5.0
RGSC_v3.41485,385,547 - 85,385,732UniSTSRGSC3.4
Celera1478,504,338 - 78,504,523UniSTS
Cytogenetic Map14q21UniSTS
RH144089  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21479,599,017 - 79,599,316 (+)MAPPERmRatBN7.2
Rnor_6.01484,968,321 - 84,968,619NCBIRnor6.0
Rnor_5.01485,644,941 - 85,645,239UniSTSRnor5.0
RGSC_v3.41485,385,601 - 85,385,899UniSTSRGSC3.4
Celera1478,504,392 - 78,504,690UniSTS
RH 3.4 Map14552.7UniSTS
Cytogenetic Map14q21UniSTS
RH141041  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21479,599,374 - 79,599,563 (+)MAPPERmRatBN7.2
Rnor_6.01484,968,678 - 84,968,866NCBIRnor6.0
Rnor_5.01485,645,298 - 85,645,486UniSTSRnor5.0
RGSC_v3.41485,385,958 - 85,386,146UniSTSRGSC3.4
Celera1478,504,749 - 78,504,937UniSTS
RH 3.4 Map14552.29UniSTS
Cytogenetic Map14q21UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 9 22 113 58 57 26 25 26 6 152 69 93 41 58 31

Sequence


Ensembl Acc Id: ENSRNOT00000078179   ⟹   ENSRNOP00000074795
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1479,598,827 - 79,609,240 (-)Ensembl
Rnor_6.0 Ensembl1484,968,130 - 84,978,255 (-)Ensembl
RefSeq Acc Id: NM_001007730   ⟹   NP_001007731
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81483,822,322 - 83,832,667 (-)NCBI
mRatBN7.21479,598,822 - 79,609,172 (-)NCBI
Rnor_6.01484,968,125 - 84,978,242 (-)NCBI
Rnor_5.01485,644,749 - 85,655,153 (-)NCBI
RGSC_v3.41485,385,409 - 85,395,730 (-)RGD
Celera1478,504,196 - 78,514,187 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001007731 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH81959 (Get FASTA)   NCBI Sequence Viewer  
  AAW21810 (Get FASTA)   NCBI Sequence Viewer  
  EDM00241 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000074795.1
  ENSRNOP00055039588
  ENSRNOP00060043838
  ENSRNOP00065044762
GenBank Protein Q66H96 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001007731   ⟸   NM_001007730
- UniProtKB: Q66H96 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSRNOP00000074795   ⟸   ENSRNOT00000078179
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q66H96-F1-model_v2 AlphaFold Q66H96 1-215 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1359269 AgrOrtholog
BioCyc Gene G2FUF-15169 BioCyc
Ensembl Genes ENSRNOG00000057703 Ensembl, UniProtKB/Swiss-Prot
  ENSRNOG00055027773 UniProtKB/Swiss-Prot
  ENSRNOG00060030359 UniProtKB/Swiss-Prot
  ENSRNOG00065031559 UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000078179.2 UniProtKB/Swiss-Prot
  ENSRNOT00055048094 UniProtKB/Swiss-Prot
  ENSRNOT00060052734 UniProtKB/Swiss-Prot
  ENSRNOT00065054395 UniProtKB/Swiss-Prot
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7124492 IMAGE-MGC_LOAD
InterPro Ca-binding_regulatory 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
  S100/CaBP-9k_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:360970 UniProtKB/Swiss-Prot
MGC_CLONE MGC:94082 IMAGE-MGC_LOAD
NCBI Gene 360970 ENTREZGENE
PANTHER CALCIUM-BINDING PROTEIN 7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALCIUM-BINDING PROTEIN 8-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_1 UniProtKB/TrEMBL
  EF-hand_7 UniProtKB/Swiss-Prot
PhenoGen Cabp7 PhenoGen
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S100_CABP UniProtKB/TrEMBL
RatGTEx ENSRNOG00000057703 RatGTEx
  ENSRNOG00055027773 RatGTEx
  ENSRNOG00060030359 RatGTEx
  ENSRNOG00065031559 RatGTEx
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EF-hand UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A6IKH7_RAT UniProtKB/TrEMBL
  CABP7_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2006-03-30 Cabp7  calcium binding protein 7      Symbol and Name status set to approved 1299863 APPROVED
2005-07-29 Cabp7  calcium binding protein 7      Symbol and Name status set to provisional 70820 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_domains in the human homolog, the EF-hand 3 and EF-hand 4 domains may be nonfunctional as a result of changes in domain structure, including a deletion and sequence alterations 1556591