CLCA2 (chloride channel accessory 2) - Rat Genome Database

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Gene: CLCA2 (chloride channel accessory 2) Homo sapiens
Analyze
Symbol: CLCA2
Name: chloride channel accessory 2
RGD ID: 1312594
HGNC Page HGNC:2016
Description: Predicted to enable intracellular calcium activated chloride channel activity. Predicted to be involved in ion transmembrane transport. Predicted to act upstream of or within chloride transport. Located in several cellular components, including cell junction; cytosol; and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CACC; CaCC-3; CACC3; calcium-activated chloride channel family member 2; calcium-activated chloride channel protein 3; calcium-activated chloride channel regulator 2; calcium-activated chloride channel-2; chloride channel regulator 2; chloride channel, calcium activated, family member 2; CLCA family member 2, chloride channel regulator; CLCRG2; FLJ97885; hCaCC-3; hCLCA2
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
GRCh38186,424,171 - 86,456,553 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl186,424,171 - 86,456,553 (+)EnsemblGRCh38hg38GRCh38
GRCh37186,889,854 - 86,922,236 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36186,662,413 - 86,694,829 (+)NCBINCBI36hg18NCBI36
Build 34186,601,845 - 86,634,259NCBI
Celera185,133,768 - 85,166,240 (+)NCBI
Cytogenetic Map1p22.3NCBI
HuRef185,000,753 - 85,032,874 (+)NCBIHuRef
CHM1_1187,004,629 - 87,037,098 (+)NCBICHM1_1
T2T-CHM13v2.0186,264,193 - 86,296,574 (+)NCBI
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

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10362588   PMID:10437792   PMID:10554024   PMID:10584316   PMID:10737800   PMID:10758170   PMID:11071307   PMID:11149902   PMID:11262615   PMID:11320086   PMID:12110680   PMID:12477932  
PMID:12612194   PMID:14512419   PMID:15174051   PMID:15707651   PMID:16158324   PMID:16873362   PMID:18950845   PMID:19423540   PMID:19654313   PMID:20406964   PMID:20438785   PMID:21873635  
PMID:21909135   PMID:22431922   PMID:22990203   PMID:23112050   PMID:25548429   PMID:25557950   PMID:26344197   PMID:26930581   PMID:28514442   PMID:29463274   PMID:29536528   PMID:29743348  
PMID:29758025   PMID:30021884   PMID:30948266   PMID:31326550   PMID:32131869   PMID:32298355   PMID:33966732  


Genomics

Comparative Map Data
CLCA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38186,424,171 - 86,456,553 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl186,424,171 - 86,456,553 (+)EnsemblGRCh38hg38GRCh38
GRCh37186,889,854 - 86,922,236 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36186,662,413 - 86,694,829 (+)NCBINCBI36hg18NCBI36
Build 34186,601,845 - 86,634,259NCBI
Celera185,133,768 - 85,166,240 (+)NCBI
Cytogenetic Map1p22.3NCBI
HuRef185,000,753 - 85,032,874 (+)NCBIHuRef
CHM1_1187,004,629 - 87,037,098 (+)NCBICHM1_1
T2T-CHM13v2.0186,264,193 - 86,296,574 (+)NCBI
Clca2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393144,776,021 - 144,805,204 (-)NCBIGRCm39mm39
GRCm39 Ensembl3144,776,024 - 144,805,204 (-)Ensembl
GRCm383145,070,260 - 145,099,443 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3145,070,263 - 145,099,443 (-)EnsemblGRCm38mm10GRCm38
MGSCv373144,733,229 - 144,762,005 (-)NCBIGRCm37mm9NCBIm37
MGSCv363145,007,651 - 145,036,427 (-)NCBImm8
Celera3151,513,121 - 151,541,898 (-)NCBICelera
Cytogenetic Map3H2NCBI
Clca2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22233,993,619 - 234,022,691 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2233,995,078 - 234,022,199 (-)Ensembl
Rnor_6.02250,954,423 - 250,981,544 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2250,954,397 - 250,981,623 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02269,482,241 - 269,509,237 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42243,114,775 - 243,142,349 (-)NCBIRGSC3.4rn4RGSC3.4
Celera2225,983,314 - 226,010,397 (-)NCBICelera
Cytogenetic Map2q44NCBI
Clca2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554237,728,652 - 7,760,697 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554237,729,032 - 7,760,340 (-)NCBIChiLan1.0ChiLan1.0
CLCA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1187,808,002 - 87,840,605 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl187,808,205 - 87,840,605 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01118,954,863 - 118,987,264 (+)NCBIMhudiblu_PPA_v0panPan3
CLCA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1661,665,120 - 61,705,760 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl661,666,105 - 61,704,746 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha664,379,479 - 64,415,767 (-)NCBI
ROS_Cfam_1.0662,205,308 - 62,244,815 (-)NCBI
ROS_Cfam_1.0 Ensembl662,205,904 - 62,244,664 (-)Ensembl
UMICH_Zoey_3.1661,738,026 - 61,777,512 (-)NCBI
UNSW_CanFamBas_1.0661,701,435 - 61,740,933 (-)NCBI
UU_Cfam_GSD_1.0662,207,245 - 62,246,736 (-)NCBI
Clca2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505896,893,563 - 96,928,155 (+)NCBI
SpeTri2.0NW_004936865202,970 - 237,072 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLCA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4129,670,638 - 129,704,846 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14129,670,634 - 129,704,765 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24142,188,545 - 142,223,419 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CLCA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12046,974,030 - 47,007,723 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2046,975,337 - 47,006,646 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603370,803,176 - 70,835,376 (+)NCBIVero_WHO_p1.0
Clca2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474211,183,711 - 11,212,388 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462474211,182,852 - 11,217,222 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-75095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,921,886 - 86,922,122UniSTSGRCh37
Build 36186,694,474 - 86,694,710RGDNCBI36
Celera185,165,885 - 85,166,121RGD
Cytogenetic Map1p22.3UniSTS
HuRef185,032,519 - 85,032,755UniSTS
TNG Radiation Hybrid Map149546.0UniSTS
GeneMap99-GB4 RH Map1243.23UniSTS
G59429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,902,756 - 86,902,862UniSTSGRCh37
Build 36186,675,344 - 86,675,450RGDNCBI36
Celera185,146,756 - 85,146,862RGD
Cytogenetic Map1p22.3UniSTS
HuRef185,013,739 - 85,013,845UniSTS
TNG Radiation Hybrid Map149638.0UniSTS
RH119026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,905,845 - 86,906,116UniSTSGRCh37
Build 36186,678,433 - 86,678,704RGDNCBI36
Celera185,149,845 - 85,150,116RGD
Cytogenetic Map1p22.3UniSTS
HuRef185,016,482 - 85,016,753UniSTS
TNG Radiation Hybrid Map149631.0UniSTS
SHGC-156130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,888,458 - 86,888,764UniSTSGRCh37
Build 36186,661,046 - 86,661,352RGDNCBI36
Celera185,132,457 - 85,132,763RGD
Cytogenetic Map1p22.3UniSTS
HuRef184,999,442 - 84,999,748UniSTS
TNG Radiation Hybrid Map149628.0UniSTS
CLCA2_8968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,921,549 - 86,922,389UniSTSGRCh37
Build 36186,694,137 - 86,694,977RGDNCBI36
Celera185,165,548 - 85,166,388RGD
HuRef185,032,182 - 85,033,022UniSTS
G54627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37186,902,753 - 86,902,954UniSTSGRCh37
Celera185,146,753 - 85,146,954UniSTS
Cytogenetic Map1p22.3UniSTS
HuRef185,013,736 - 85,013,937UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:596
Count of miRNA genes:456
Interacting mature miRNAs:508
Transcripts:ENST00000370565, ENST00000490884, ENST00000498802
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.


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 1
Medium 6 2 2 34 4 1311 3 3 20 164 55 38 7 696
Low 220 65 94 29 71 4 220 53 296 21 545 223 31 1 224 45 4
Below cutoff 1902 2447 1260 297 1025 198 2365 1804 3222 144 577 1115 103 962 1776 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB026833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF043977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF114429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF127980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE062109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS223381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC417810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH935296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI939026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI939139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI939252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI987322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI988477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI988590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA032845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA033052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA033653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA142875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA188626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA188739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA282313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA288778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA421412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370565   ⟹   ENSP00000359596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl186,424,171 - 86,456,553 (+)Ensembl
RefSeq Acc Id: ENST00000490884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl186,440,280 - 86,445,519 (+)Ensembl
RefSeq Acc Id: ENST00000498802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl186,448,134 - 86,453,602 (+)Ensembl
RefSeq Acc Id: NM_006536   ⟹   NP_006527
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,424,171 - 86,456,553 (+)NCBI
GRCh37186,889,769 - 86,922,241 (+)ENTREZGENE
Build 36186,662,413 - 86,694,829 (+)NCBI Archive
HuRef185,000,753 - 85,032,874 (+)ENTREZGENE
CHM1_1187,004,629 - 87,037,098 (+)NCBI
T2T-CHM13v2.0186,264,193 - 86,296,574 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542448   ⟹   XP_011540750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,424,171 - 86,445,526 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_006527 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540750 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD40367 (Get FASTA)   NCBI Sequence Viewer  
  AAD48397 (Get FASTA)   NCBI Sequence Viewer  
  AAF21968 (Get FASTA)   NCBI Sequence Viewer  
  AAH41096 (Get FASTA)   NCBI Sequence Viewer  
  BAA77810 (Get FASTA)   NCBI Sequence Viewer  
  BAF83037 (Get FASTA)   NCBI Sequence Viewer  
  BAG59308 (Get FASTA)   NCBI Sequence Viewer  
  CAJ46930 (Get FASTA)   NCBI Sequence Viewer  
  CBX36868 (Get FASTA)   NCBI Sequence Viewer  
  CBY79740 (Get FASTA)   NCBI Sequence Viewer  
  CBY79759 (Get FASTA)   NCBI Sequence Viewer  
  CBY79778 (Get FASTA)   NCBI Sequence Viewer  
  CBY88734 (Get FASTA)   NCBI Sequence Viewer  
  CBY88762 (Get FASTA)   NCBI Sequence Viewer  
  CBY88781 (Get FASTA)   NCBI Sequence Viewer  
  CCA61670 (Get FASTA)   NCBI Sequence Viewer  
  CCA61689 (Get FASTA)   NCBI Sequence Viewer  
  CCA61708 (Get FASTA)   NCBI Sequence Viewer  
  CCA64035 (Get FASTA)   NCBI Sequence Viewer  
  CCA64156 (Get FASTA)   NCBI Sequence Viewer  
  CCA64175 (Get FASTA)   NCBI Sequence Viewer  
  CCA65385 (Get FASTA)   NCBI Sequence Viewer  
  CCA65416 (Get FASTA)   NCBI Sequence Viewer  
  CCD32745 (Get FASTA)   NCBI Sequence Viewer  
  EAW73187 (Get FASTA)   NCBI Sequence Viewer  
  Q9UQC9 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_006527   ⟸   NM_006536
- Peptide Label: preproprotein
- UniProtKB: Q9UQC9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011540750   ⟸   XM_011542448
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000359596   ⟸   ENST00000370565
Protein Domains
VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UQC9-F1-model_v2 AlphaFold Q9UQC9 1-943 view protein structure

Promoters
RGD ID:6856100
Promoter ID:EPDNEW_H1205
Type:initiation region
Name:CLCA2_2
Description:chloride channel accessory 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1206  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,423,864 - 86,423,924EPDNEW
RGD ID:6856082
Promoter ID:EPDNEW_H1206
Type:initiation region
Name:CLCA2_1
Description:chloride channel accessory 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1205  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38186,424,171 - 86,424,231EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3
pathogenic
NM_006536.5(CLCA2):c.1443T>A (p.Ser481Arg) single nucleotide variant Malignant melanoma [RCV000064921] Chr1:86441498 [GRCh38]
Chr1:86907181 [GRCh37]
Chr1:86679769 [NCBI36]
Chr1:1p22.3
not provided
NM_006536.5(CLCA2):c.1834G>A (p.Glu612Lys) single nucleotide variant Malignant melanoma [RCV000064922] Chr1:86447628 [GRCh38]
Chr1:86913311 [GRCh37]
Chr1:86685899 [NCBI36]
Chr1:1p22.3
not provided
NM_006536.5(CLCA2):c.1900C>T (p.Pro634Ser) single nucleotide variant Malignant melanoma [RCV000060255] Chr1:86447694 [GRCh38]
Chr1:86913377 [GRCh37]
Chr1:86685965 [NCBI36]
Chr1:1p22.3
not provided
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 copy number gain See cases [RCV000135654] Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1
pathogenic
GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1 copy number loss See cases [RCV000138370] Chr1:86228890..88466303 [GRCh38]
Chr1:86694573..88931986 [GRCh37]
Chr1:86467161..88704574 [NCBI36]
Chr1:1p22.3-22.2
uncertain significance
GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1 copy number loss See cases [RCV000138957] Chr1:76419302..88628464 [GRCh38]
Chr1:76884987..89094147 [GRCh37]
Chr1:76657575..88866735 [NCBI36]
Chr1:1p31.1-22.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1 copy number loss See cases [RCV000510161] Chr1:72044544..92505091 [GRCh37]
Chr1:1p31.1-22.1
pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3
pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_006536.7(CLCA2):c.522C>T (p.Phe174=) single nucleotide variant not provided [RCV000924649] Chr1:86430908 [GRCh38]
Chr1:86896591 [GRCh37]
Chr1:1p22.3
likely benign
NM_006536.7(CLCA2):c.2535G>A (p.Thr845=) single nucleotide variant not provided [RCV000964816] Chr1:86455230 [GRCh38]
Chr1:86920913 [GRCh37]
Chr1:1p22.3
benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2
not provided
NM_006536.7(CLCA2):c.2526A>G (p.Gln842=) single nucleotide variant not provided [RCV001654761] Chr1:86455221 [GRCh38]
Chr1:86920904 [GRCh37]
Chr1:1p22.3
benign
NM_006536.7(CLCA2):c.465C>T (p.Tyr155=) single nucleotide variant not provided [RCV000952852] Chr1:86428558 [GRCh38]
Chr1:86894241 [GRCh37]
Chr1:1p22.3
benign
GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3 copy number gain not provided [RCV001259073] Chr1:80804502..89490384 [GRCh37]
Chr1:1p31.1-22.2
likely pathogenic
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) copy number loss not specified [RCV002053392] Chr1:68180293..92731957 [GRCh37]
Chr1:1p31.3-22.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p22.3(chr1:86441405-86925675)x3 copy number gain not provided [RCV001259064] Chr1:86441405..86925675 [GRCh37]
Chr1:1p22.3
likely benign
GRCh37/hg19 1p22.3(chr1:86702066-86902902)x3 copy number gain not provided [RCV001259066] Chr1:86702066..86902902 [GRCh37]
Chr1:1p22.3
uncertain significance
GRCh37/hg19 1p22.3(chr1:86714345-86906191)x1 copy number loss not provided [RCV001259068] Chr1:86714345..86906191 [GRCh37]
Chr1:1p22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2016 AgrOrtholog
COSMIC CLCA2 COSMIC
Ensembl Genes ENSG00000137975 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000359596 ENTREZGENE
  ENSP00000359596.4 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370565 ENTREZGENE
  ENST00000370565.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.410 UniProtKB/Swiss-Prot
GTEx ENSG00000137975 GTEx
HGNC ID HGNC:2016 ENTREZGENE
Human Proteome Map CLCA2 Human Proteome Map
InterPro CLCA_chordata UniProtKB/Swiss-Prot
  CLCA_N UniProtKB/Swiss-Prot
  VWF_A UniProtKB/Swiss-Prot
  vWFA_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:9635 UniProtKB/Swiss-Prot
NCBI Gene 9635 ENTREZGENE
OMIM 604003 OMIM
Pfam CLCA UniProtKB/Swiss-Prot
PharmGKB PA26543 PharmGKB
PROSITE VWFA UniProtKB/Swiss-Prot
SMART VWA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot
TIGRFAMs hCaCC UniProtKB/Swiss-Prot
UniProt CLCA2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K2T3 UniProtKB/Swiss-Prot
  Q9Y6N2 UniProtKB/Swiss-Prot