CA4 (carbonic anhydrase 4) - Rat Genome Database

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Gene: CA4 (carbonic anhydrase 4) Homo sapiens
Analyze
Symbol: CA4
Name: carbonic anhydrase 4
RGD ID: 1353429
HGNC Page HGNC
Description: Predicted to have carbonate dehydratase activity. Involved in bicarbonate transport. Localizes to several cellular components, including anchored component of external side of plasma membrane; brush border membrane; and cytoplasmic vesicle membrane. Implicated in retinitis pigmentosa and retinitis pigmentosa 17.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CA-IV; CAIV; Car4; carbonate dehydratase IV; carbonic anhydrase IV; carbonic dehydratase IV; retinitis pigmentosa 17 (autosomal dominant); RP17
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 Ensembl1760,149,942 - 60,170,899 (+)EnsemblGRCh38hg38GRCh38
GRCh381760,149,942 - 60,179,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371758,227,334 - 58,256,382 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361755,582,131 - 55,591,686 (+)NCBINCBI36hg18NCBI36
Build 341755,582,130 - 55,591,686NCBI
Celera1754,687,198 - 54,696,791 (+)NCBI
Cytogenetic Map17q23.1NCBI
HuRef1753,598,240 - 53,607,844 (+)NCBIHuRef
CHM1_11758,291,334 - 58,300,936 (+)NCBICHM1_1
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
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetazolamide  (EXP)
aconitine  (ISO)
ammonium chloride  (ISO)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbonates  (EXP)
chloric acid  (EXP)
cisplatin  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
furan  (ISO)
glycidol  (ISO)
isoprenaline  (ISO)
ketamine  (ISO)
mercaptopurine  (ISO)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methylmercury chloride  (EXP)
molybdate  (EXP)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nitric acid  (EXP)
oryzalin  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
pentanal  (EXP)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
phosgene  (ISO)
propanal  (EXP)
purine-6-thiol  (ISO)
raloxifene  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
sodium fluoride  (ISO)
sulfamic acid  (EXP)
sulfates  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
tungstate  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

References

Additional References at PubMed
PMID:1311094   PMID:1901414   PMID:2111324   PMID:2116168   PMID:6811592   PMID:7581389   PMID:7625839   PMID:7672351   PMID:8064130   PMID:8325641   PMID:8675662   PMID:8809084  
PMID:8903383   PMID:8942978   PMID:9385361   PMID:9632745   PMID:10090333   PMID:10231836   PMID:11994299   PMID:12477932   PMID:14567693   PMID:15326289   PMID:15489334   PMID:15563508  
PMID:16344560   PMID:17207965   PMID:17409381   PMID:17500595   PMID:17652713   PMID:17881426   PMID:18344446   PMID:19056867   PMID:19211803   PMID:20301590   PMID:20308551   PMID:20450258  
PMID:20458337   PMID:20626030   PMID:20801516   PMID:21680735   PMID:21873635   PMID:21988832   PMID:22021688   PMID:23049597   PMID:23297198   PMID:23376485   PMID:23533145   PMID:24146379  
PMID:24338019   PMID:24880201   PMID:26071132   PMID:28514442   PMID:30097533   PMID:30446621   PMID:31895503   PMID:32031891  


Genomics

Comparative Map Data
CA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1760,149,942 - 60,170,899 (+)EnsemblGRCh38hg38GRCh38
GRCh381760,149,942 - 60,179,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371758,227,334 - 58,256,382 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361755,582,131 - 55,591,686 (+)NCBINCBI36hg18NCBI36
Build 341755,582,130 - 55,591,686NCBI
Celera1754,687,198 - 54,696,791 (+)NCBI
Cytogenetic Map17q23.1NCBI
HuRef1753,598,240 - 53,607,844 (+)NCBIHuRef
CHM1_11758,291,334 - 58,300,936 (+)NCBICHM1_1
Car4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391184,848,580 - 84,856,880 (+)NCBIGRCm39mm39
GRCm39 Ensembl1184,848,612 - 84,856,870 (+)Ensembl
GRCm381184,957,754 - 84,966,054 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1184,957,786 - 84,966,044 (+)EnsemblGRCm38mm10GRCm38
MGSCv371184,771,256 - 84,779,556 (+)NCBIGRCm37mm9NCBIm37
MGSCv361184,774,038 - 84,782,239 (+)NCBImm8
Celera1194,577,982 - 94,586,281 (+)NCBICelera
Cytogenetic Map11CNCBI
Ca4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21069,827,945 - 69,836,501 (+)NCBI
Rnor_6.0 Ensembl1072,272,248 - 72,281,067 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01072,272,286 - 72,281,069 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01072,173,022 - 72,188,138 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41073,229,211 - 73,237,707 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11073,243,580 - 73,252,077 (+)NCBI
Celera1068,755,736 - 68,764,294 (+)NCBICelera
Cytogenetic Map10q26NCBI
Ca4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554511,486,010 - 1,494,084 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554511,485,939 - 1,493,249 (+)NCBIChiLan1.0ChiLan1.0
CA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v01754,236,114 - 54,258,638 (+)NCBIMhudiblu_PPA_v0panPan3
CA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1936,327,919 - 36,337,103 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl936,327,969 - 36,337,088 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha935,555,114 - 35,563,663 (-)NCBI
ROS_Cfam_1.0937,140,849 - 37,149,372 (-)NCBI
UMICH_Zoey_3.1935,919,574 - 35,928,095 (-)NCBI
UNSW_CanFamBas_1.0936,206,744 - 36,215,265 (-)NCBI
UU_Cfam_GSD_1.0936,294,940 - 36,303,505 (-)NCBI
Ca4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560235,301,294 - 35,310,173 (-)NCBI
SpeTri2.0NW_0049364901,764,845 - 1,773,752 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1237,962,943 - 37,972,509 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11237,962,951 - 37,972,443 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21239,632,792 - 39,642,290 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CA4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11631,369,238 - 31,379,366 (+)NCBI
Ca4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248713,462,577 - 3,469,978 (-)NCBI

Position Markers
D17S808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371760,672,115 - 60,672,273UniSTSGRCh37
Build 361758,025,847 - 58,026,005RGDNCBI36
Celera1755,060,010 - 55,060,166RGD
Cytogenetic Map17q23UniSTS
HuRef1756,039,193 - 56,039,349UniSTS
Marshfield Genetic Map1782.56RGD
Marshfield Genetic Map1782.56UniSTS
Genethon Genetic Map1784.2UniSTS
deCODE Assembly Map1791.86UniSTS
GeneMap99-GB4 RH Map17391.2UniSTS
Whitehead-RH Map17449.6UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map17669.9UniSTS
D17S807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371764,858,972 - 64,859,095UniSTSGRCh37
Build 361762,289,434 - 62,289,557RGDNCBI36
Celera1761,431,643 - 61,431,766RGD
Cytogenetic Map17q23UniSTS
HuRef1760,248,173 - 60,248,325UniSTS
HuRef1760,248,204 - 60,248,319UniSTS
Marshfield Genetic Map1785.94UniSTS
Marshfield Genetic Map1785.94RGD
Genethon Genetic Map1787.6UniSTS
Stanford-G3 RH Map172854.0UniSTS
GeneMap99-GB4 RH Map17421.57UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map17700.6UniSTS
GeneMap99-G3 RH Map173355.0UniSTS
RH79679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371758,236,639 - 58,236,881UniSTSGRCh37
Build 361755,591,421 - 55,591,663RGDNCBI36
Celera1754,696,523 - 54,696,765RGD
Cytogenetic Map17q23UniSTS
HuRef1753,607,576 - 53,607,818UniSTS
GeneMap99-GB4 RH Map17376.97UniSTS
RH71355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371758,236,856 - 58,236,983UniSTSGRCh37
Build 361755,591,638 - 55,591,765RGDNCBI36
Celera1754,696,740 - 54,696,867RGD
Cytogenetic Map17q23UniSTS
HuRef1753,607,793 - 53,607,920UniSTS
GeneMap99-GB4 RH Map17380.53UniSTS
NCBI RH Map17667.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1744
Count of miRNA genes:841
Interacting mature miRNAs:976
Transcripts:ENST00000300900, ENST00000585705, ENST00000586876, ENST00000587265, ENST00000590203, ENST00000591725
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 pharyngeal arch
High
Medium 453 824 840 4 680 5 650 256 1123 190 142 1259 1113 48
Low 1819 1906 328 223 847 59 3268 1879 2453 130 1065 127 166 1 91 2473 3 2
Below cutoff 74 239 470 321 179 322 350 32 111 55 161 89 256 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_137422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI990988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA113846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M83670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300900   ⟹   ENSP00000300900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1760,149,973 - 60,159,546 (+)Ensembl
RefSeq Acc Id: ENST00000585705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1760,149,942 - 60,156,952 (+)Ensembl
RefSeq Acc Id: ENST00000586876   ⟹   ENSP00000467465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1760,149,942 - 60,170,899 (+)Ensembl
RefSeq Acc Id: ENST00000587265   ⟹   ENSP00000464757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1760,158,108 - 60,158,964 (+)Ensembl
RefSeq Acc Id: ENST00000590203   ⟹   ENSP00000465837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1760,157,732 - 60,159,546 (+)Ensembl
RefSeq Acc Id: ENST00000591725   ⟹   ENSP00000466964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1760,149,942 - 60,157,542 (+)Ensembl
RefSeq Acc Id: NM_000717   ⟹   NP_000708
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,149,973 - 60,159,546 (+)NCBI
GRCh371758,227,302 - 58,236,907 (+)ENTREZGENE
GRCh371758,227,302 - 58,236,907 (+)NCBI
Build 361755,582,131 - 55,591,686 (+)NCBI Archive
HuRef1753,598,240 - 53,607,844 (+)ENTREZGENE
CHM1_11758,291,334 - 58,300,936 (+)NCBI
Sequence:
RefSeq Acc Id: NR_137422
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,149,973 - 60,179,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257639   ⟹   XP_005257696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,149,942 - 60,159,546 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525183   ⟹   XP_011523485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,151,389 - 60,159,546 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025012   ⟹   XP_016880501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,151,389 - 60,159,546 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001752604
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,149,942 - 60,178,218 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001752605
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,149,942 - 60,172,501 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001752606
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,149,942 - 60,172,488 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001752607
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,149,942 - 60,178,218 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001752608
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,149,942 - 60,178,218 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001752609
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,149,942 - 60,178,218 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001752610
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381760,149,942 - 60,166,932 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000708   ⟸   NM_000717
- Peptide Label: preproprotein
- UniProtKB: P22748 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005257696   ⟸   XM_005257639
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011523485   ⟸   XM_011525183
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016880501   ⟸   XM_017025012
- Peptide Label: isoform X3
- UniProtKB: P22748 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000467465   ⟸   ENST00000586876
RefSeq Acc Id: ENSP00000464757   ⟸   ENST00000587265
RefSeq Acc Id: ENSP00000300900   ⟸   ENST00000300900
RefSeq Acc Id: ENSP00000465837   ⟸   ENST00000590203
RefSeq Acc Id: ENSP00000466964   ⟸   ENST00000591725
Protein Domains
Alpha-carbonic anhydrase

Promoters
RGD ID:7235875
Promoter ID:EPDNEW_H23683
Type:initiation region
Name:CA4_1
Description:carbonic anhydrase 4
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
GRCh381760,149,973 - 60,150,033EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000717.5(CA4):c.709G>T (p.Val237Leu) single nucleotide variant not provided [RCV000519136] Chr17:60158411 [GRCh38]
Chr17:58235772 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.40C>T (p.Arg14Trp) single nucleotide variant Retinitis pigmentosa 17 [RCV000019173]|Retinitis pigmentosa [RCV000336591]|not provided [RCV001247433] Chr17:60150074 [GRCh38]
Chr17:58227435 [GRCh37]
Chr17:17q23.1
pathogenic|uncertain significance
NM_000717.5(CA4):c.655C>A (p.Arg219Ser) single nucleotide variant Retinitis pigmentosa 17 [RCV000019174] Chr17:60158357 [GRCh38]
Chr17:58235718 [GRCh37]
Chr17:17q23.1
pathogenic|uncertain significance
NM_000717.5(CA4):c.206G>A (p.Arg69His) single nucleotide variant Retinitis pigmentosa 17 [RCV000019175] Chr17:60156653 [GRCh38]
Chr17:58234014 [GRCh37]
Chr17:17q23.1
pathogenic|uncertain significance
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1 copy number loss See cases [RCV000051259] Chr17:60043448..62148729 [GRCh38]
Chr17:58120809..60226090 [GRCh37]
Chr17:55475591..57580872 [NCBI36]
Chr17:17q23.1-23.2
pathogenic
GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1 copy number loss See cases [RCV000051161] Chr17:60095339..62237942 [GRCh38]
Chr17:58172700..60315303 [GRCh37]
Chr17:55527482..57670085 [NCBI36]
Chr17:17q23.1-23.2
pathogenic
NM_000717.5(CA4):c.700G>A (p.Val234Ile) single nucleotide variant Retinitis pigmentosa [RCV000330174]|not provided [RCV000086935]|not specified [RCV000179783] Chr17:60158402 [GRCh38]
Chr17:58235763 [GRCh37]
Chr17:17q23.1
benign|likely benign|not provided
NM_000717.5(CA4):c.716G>A (p.Arg239Gln) single nucleotide variant Retinitis pigmentosa [RCV001127369]|not provided [RCV000086936] Chr17:60158418 [GRCh38]
Chr17:58235779 [GRCh37]
Chr17:17q23.1
benign|not provided
NM_000717.5(CA4):c.880G>A (p.Ala294Thr) single nucleotide variant not provided [RCV001348729] Chr17:60159365 [GRCh38]
Chr17:58236726 [GRCh37]
Chr17:17q23.1
uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_000717.5(CA4):c.90G>C (p.Glu30Asp) single nucleotide variant not provided [RCV000757050] Chr17:60155345 [GRCh38]
Chr17:58232706 [GRCh37]
Chr17:17q23.1
uncertain significance
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 copy number gain See cases [RCV000240364] Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3
pathogenic
NM_000717.5(CA4):c.449C>T (p.Ser150Leu) single nucleotide variant Retinitis Pigmentosa, Dominant [RCV000269653] Chr17:60157724 [GRCh38]
Chr17:58235085 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.681G>A (p.Pro227=) single nucleotide variant Retinitis pigmentosa [RCV000277486] Chr17:60158383 [GRCh38]
Chr17:58235744 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.761A>C (p.Gln254Pro) single nucleotide variant Retinitis pigmentosa [RCV000262451]|not provided [RCV001210788] Chr17:60159246 [GRCh38]
Chr17:58236607 [GRCh37]
Chr17:17q23.1
likely benign|uncertain significance
NM_000717.5(CA4):c.807T>C (p.Asn269=) single nucleotide variant Retinitis pigmentosa [RCV000319783]|not provided [RCV000899609] Chr17:60159292 [GRCh38]
Chr17:58236653 [GRCh37]
Chr17:17q23.1
likely benign|uncertain significance
NM_000717.5(CA4):c.531C>A (p.Asn177Lys) single nucleotide variant Retinitis pigmentosa [RCV000308163]|not provided [RCV000905014] Chr17:60158078 [GRCh38]
Chr17:58235439 [GRCh37]
Chr17:17q23.1
benign|likely benign
NM_000717.5(CA4):c.357C>T (p.Ser119=) single nucleotide variant Retinitis pigmentosa [RCV000309446] Chr17:60157515 [GRCh38]
Chr17:58234876 [GRCh37]
Chr17:17q23.1
likely benign|uncertain significance
NM_000717.5(CA4):c.575A>G (p.Lys192Arg) single nucleotide variant Retinitis pigmentosa [RCV000369886]|not provided [RCV000487996] Chr17:60158122 [GRCh38]
Chr17:58235483 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.415A>T (p.Met139Leu) single nucleotide variant Retinitis pigmentosa [RCV000366585]|not provided [RCV000757049] Chr17:60157690 [GRCh38]
Chr17:58235051 [GRCh37]
Chr17:17q23.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000717.5(CA4):c.-24G>C single nucleotide variant Retinitis pigmentosa [RCV000278065] Chr17:60150011 [GRCh38]
Chr17:58227372 [GRCh37]
Chr17:17q23.1
benign|likely benign
NM_000717.5(CA4):c.258C>T (p.Asn86=) single nucleotide variant Retinitis pigmentosa [RCV000398754]|not provided [RCV000507639] Chr17:60156705 [GRCh38]
Chr17:58234066 [GRCh37]
Chr17:17q23.1
likely benign|uncertain significance
NM_000717.5(CA4):c.*78T>C single nucleotide variant Retinitis pigmentosa [RCV000372209] Chr17:60159502 [GRCh38]
Chr17:58236863 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.-47C>G single nucleotide variant Retinitis pigmentosa [RCV000375976] Chr17:60149988 [GRCh38]
Chr17:58227349 [GRCh37]
Chr17:17q23.1
benign|likely benign
NM_000717.5(CA4):c.204A>G (p.Gly68=) single nucleotide variant Retinitis pigmentosa [RCV000401854]|not provided [RCV000894282] Chr17:60156651 [GRCh38]
Chr17:58234012 [GRCh37]
Chr17:17q23.1
benign|likely benign
NM_000717.5(CA4):c.235C>A (p.Gln79Lys) single nucleotide variant Retinitis pigmentosa [RCV000339997] Chr17:60156682 [GRCh38]
Chr17:58234043 [GRCh37]
Chr17:17q23.1
likely benign|uncertain significance
NM_000717.4(CA4):c.-76G>C single nucleotide variant Retinitis Pigmentosa, Dominant [RCV000337685] Chr17:60149959 [GRCh38]
Chr17:58227320 [GRCh37]
Chr17:17q23.1
likely benign
NM_000717.5(CA4):c.744+3G>A single nucleotide variant Retinitis pigmentosa [RCV000387289]|not provided [RCV000591803] Chr17:60158449 [GRCh38]
Chr17:58235810 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.923C>A (p.Ala308Asp) single nucleotide variant not provided [RCV000726745] Chr17:60159408 [GRCh38]
Chr17:58236769 [GRCh37]
Chr17:17q23.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000717.5(CA4):c.210C>A (p.Phe70Leu) single nucleotide variant Retinitis pigmentosa [RCV000306100] Chr17:60156657 [GRCh38]
Chr17:58234018 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.492G>A (p.Ala164=) single nucleotide variant not provided [RCV000947841]|not specified [RCV000732661] Chr17:60157767 [GRCh38]
Chr17:58235128 [GRCh37]
Chr17:17q23.1
benign
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3 copy number gain See cases [RCV000448805] Chr17:49076980..58740945 [GRCh37]
Chr17:17q21.33-23.2
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1 copy number loss See cases [RCV000511292] Chr17:56623275..60285107 [GRCh37]
Chr17:17q22-23.2
pathogenic
NM_000717.5(CA4):c.*59G>A single nucleotide variant Retinitis pigmentosa 17 [RCV001002128]|not provided [RCV000514784] Chr17:60159483 [GRCh38]
Chr17:58236844 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.869C>T (p.Pro290Leu) single nucleotide variant Retinitis pigmentosa [RCV001123295]|not provided [RCV000890496]|not specified [RCV000613448] Chr17:60159354 [GRCh38]
Chr17:58236715 [GRCh37]
Chr17:17q23.1
benign|likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q23.1(chr17:58075497-58247438)x1 copy number loss not provided [RCV000709908] Chr17:58075497..58247438 [GRCh37]
Chr17:17q23.1
not provided
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000717.5(CA4):c.745-5C>T single nucleotide variant not provided [RCV000895836] Chr17:60159225 [GRCh38]
Chr17:58236586 [GRCh37]
Chr17:17q23.1
likely benign
NM_000717.5(CA4):c.870G>A (p.Pro290=) single nucleotide variant not provided [RCV000927545] Chr17:60159355 [GRCh38]
Chr17:58236716 [GRCh37]
Chr17:17q23.1
likely benign
NM_000717.5(CA4):c.375C>T (p.Gly125=) single nucleotide variant Retinitis pigmentosa [RCV001126951]|not provided [RCV000965396] Chr17:60157533 [GRCh38]
Chr17:58234894 [GRCh37]
Chr17:17q23.1
benign|likely benign
NM_000717.5(CA4):c.467C>T (p.Ala156Val) single nucleotide variant not provided [RCV001041908] Chr17:60157742 [GRCh38]
Chr17:58235103 [GRCh37]
Chr17:17q23.1
uncertain significance
NC_000017.11:g.(?_60078696)_(60158446_?)dup duplication not provided [RCV001033001] Chr17:58156057..58235807 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.593C>T (p.Thr198Met) single nucleotide variant not provided [RCV001034768] Chr17:60158295 [GRCh38]
Chr17:58235656 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.686G>A (p.Cys229Tyr) single nucleotide variant Retinal dystrophy [RCV000787799] Chr17:60158388 [GRCh38]
Chr17:58235749 [GRCh37]
Chr17:17q23.1
uncertain significance
GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614) copy number gain not provided [RCV000767765] Chr17:58121190..60140614 [GRCh37]
Chr17:17q23.1-23.2
likely pathogenic
NM_000717.5(CA4):c.699C>T (p.Val233=) single nucleotide variant Retinitis pigmentosa [RCV001127368]|not provided [RCV000902968] Chr17:60158401 [GRCh38]
Chr17:58235762 [GRCh37]
Chr17:17q23.1
likely benign|uncertain significance
NM_000717.5(CA4):c.753A>T (p.Ala251=) single nucleotide variant Retinitis pigmentosa [RCV001127370]|not provided [RCV000977342] Chr17:60159238 [GRCh38]
Chr17:58236599 [GRCh37]
Chr17:17q23.1
likely benign|uncertain significance
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) copy number gain not provided [RCV000767764] Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2
pathogenic
NM_000717.5(CA4):c.341T>C (p.Leu114Ser) single nucleotide variant not provided [RCV001055753] Chr17:60157499 [GRCh38]
Chr17:58234860 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.115C>T (p.Pro39Ser) single nucleotide variant not provided [RCV001053456] Chr17:60156562 [GRCh38]
Chr17:58233923 [GRCh37]
Chr17:17q23.1
uncertain significance
GRCh37/hg19 17q23.1-23.2(chr17:58111094-58359510)x3 copy number gain not provided [RCV001006910] Chr17:58111094..58359510 [GRCh37]
Chr17:17q23.1-23.2
uncertain significance
NM_000717.5(CA4):c.415-9C>A single nucleotide variant not provided [RCV001052958] Chr17:60157681 [GRCh38]
Chr17:58235042 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.596T>A (p.Met199Lys) single nucleotide variant not provided [RCV001171798] Chr17:60158298 [GRCh38]
Chr17:58235659 [GRCh37]
Chr17:17q23.1
uncertain significance
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2
pathogenic
NM_000717.5(CA4):c.790G>A (p.Val264Met) single nucleotide variant not provided [RCV001242481] Chr17:60159275 [GRCh38]
Chr17:58236636 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.853G>A (p.Gly285Arg) single nucleotide variant not provided [RCV001205631] Chr17:60159338 [GRCh38]
Chr17:58236699 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.368del (p.Tyr123fs) deletion not provided [RCV000996592] Chr17:60157526 [GRCh38]
Chr17:58234887 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_000717.5(CA4):c.180G>A (p.Lys60=) single nucleotide variant not provided [RCV000917694] Chr17:60156627 [GRCh38]
Chr17:58233988 [GRCh37]
Chr17:17q23.1
benign
NM_000717.5(CA4):c.835C>T (p.Arg279Cys) single nucleotide variant not provided [RCV001244474] Chr17:60159320 [GRCh38]
Chr17:58236681 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.288C>T (p.Asn96=) single nucleotide variant Retinitis pigmentosa [RCV001126950] Chr17:60157446 [GRCh38]
Chr17:58234807 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.435A>G (p.Lys145=) single nucleotide variant Retinitis pigmentosa [RCV001126952] Chr17:60157710 [GRCh38]
Chr17:58235071 [GRCh37]
Chr17:17q23.1
likely benign
NM_000717.5(CA4):c.417G>A (p.Met139Ile) single nucleotide variant not provided [RCV001244860] Chr17:60157692 [GRCh38]
Chr17:58235053 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.350A>G (p.His117Arg) single nucleotide variant not provided [RCV001200228] Chr17:60157508 [GRCh38]
Chr17:58234869 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.513G>A (p.Glu171=) single nucleotide variant not provided [RCV001227467] Chr17:60157788 [GRCh38]
Chr17:58235149 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.391G>T (p.Asp131Tyr) single nucleotide variant not provided [RCV001227684] Chr17:60157549 [GRCh38]
Chr17:58234910 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.148C>A (p.Arg50Ser) single nucleotide variant not provided [RCV001206077] Chr17:60156595 [GRCh38]
Chr17:58233956 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.169G>A (p.Val57Ile) single nucleotide variant not provided [RCV001206078] Chr17:60156616 [GRCh38]
Chr17:58233977 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.358G>A (p.Asp120Asn) single nucleotide variant not provided [RCV001238104] Chr17:60157516 [GRCh38]
Chr17:58234877 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.58+10C>G single nucleotide variant Retinitis pigmentosa [RCV001124279]|not provided [RCV000912215] Chr17:60150102 [GRCh38]
Chr17:58227463 [GRCh37]
Chr17:17q23.1
likely benign|uncertain significance
NM_000717.5(CA4):c.162C>G (p.Ile54Met) single nucleotide variant Retinitis pigmentosa [RCV001124281] Chr17:60156609 [GRCh38]
Chr17:58233970 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.128G>T (p.Gly43Val) single nucleotide variant Retinitis pigmentosa [RCV001124280] Chr17:60156575 [GRCh38]
Chr17:58233936 [GRCh37]
Chr17:17q23.1
likely benign
NM_000717.5(CA4):c.922G>T (p.Ala308Ser) single nucleotide variant not provided [RCV001050961] Chr17:60159407 [GRCh38]
Chr17:58236768 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.*17G>A single nucleotide variant Retinitis pigmentosa [RCV001123296] Chr17:60159441 [GRCh38]
Chr17:58236802 [GRCh37]
Chr17:17q23.1
benign
NM_000717.5(CA4):c.775G>A (p.Asp259Asn) single nucleotide variant not provided [RCV001207750] Chr17:60159260 [GRCh38]
Chr17:58236621 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.209TCT[2] (p.Phe72del) microsatellite not provided [RCV001230730] Chr17:60156654..60156656 [GRCh38]
Chr17:58234015..58234017 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.650A>T (p.Tyr217Phe) single nucleotide variant not provided [RCV001229108] Chr17:60158352 [GRCh38]
Chr17:58235713 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.209T>G (p.Phe70Cys) single nucleotide variant not provided [RCV001063185] Chr17:60156656 [GRCh38]
Chr17:58234017 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.550G>T (p.Val184Leu) single nucleotide variant not provided [RCV001039968] Chr17:60158097 [GRCh38]
Chr17:58235458 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.618C>A (p.Asp206Glu) single nucleotide variant not provided [RCV001063879] Chr17:60158320 [GRCh38]
Chr17:58235681 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.581-6T>A single nucleotide variant not provided [RCV001064473] Chr17:60158277 [GRCh38]
Chr17:58235638 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.881_935dup (p.Ter313ProextTer?) duplication not provided [RCV001303845] Chr17:60159364..60159365 [GRCh38]
Chr17:58236725..58236726 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.899G>A (p.Gly300Asp) single nucleotide variant not provided [RCV001317354] Chr17:60159384 [GRCh38]
Chr17:58236745 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.103C>T (p.Pro35Ser) single nucleotide variant not provided [RCV001319355] Chr17:60155358 [GRCh38]
Chr17:58232719 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.480A>C (p.Glu160Asp) single nucleotide variant not provided [RCV001342382] Chr17:60157755 [GRCh38]
Chr17:58235116 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.913_924del (p.Cys305_Ala308del) deletion not provided [RCV001326199] Chr17:60159390..60159401 [GRCh38]
Chr17:58236751..58236762 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.806A>T (p.Asn269Ile) single nucleotide variant not provided [RCV001325648] Chr17:60159291 [GRCh38]
Chr17:58236652 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.149G>C (p.Arg50Pro) single nucleotide variant not provided [RCV001300083] Chr17:60156596 [GRCh38]
Chr17:58233957 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.149G>A (p.Arg50His) single nucleotide variant not provided [RCV001316555] Chr17:60156596 [GRCh38]
Chr17:58233957 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.786G>T (p.Gln262His) single nucleotide variant not provided [RCV001337911] Chr17:60159271 [GRCh38]
Chr17:58236632 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.830G>A (p.Gly277Glu) single nucleotide variant not provided [RCV001352360] Chr17:60159315 [GRCh38]
Chr17:58236676 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.665G>C (p.Gly222Ala) single nucleotide variant not provided [RCV001341032] Chr17:60158367 [GRCh38]
Chr17:58235728 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.744+2T>C single nucleotide variant not provided [RCV001323279] Chr17:60158448 [GRCh38]
Chr17:58235809 [GRCh37]
Chr17:17q23.1
uncertain significance
NC_000017.10:g.(?_58156057)_(58235807_?)dup duplication not provided [RCV001322409] Chr17:58156057..58235807 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.696G>C (p.Lys232Asn) single nucleotide variant not provided [RCV001322497] Chr17:60158398 [GRCh38]
Chr17:58235759 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.190G>A (p.Asp64Asn) single nucleotide variant not provided [RCV001344564] Chr17:60156637 [GRCh38]
Chr17:58233998 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.656G>A (p.Arg219His) single nucleotide variant not provided [RCV001324903] Chr17:60158358 [GRCh38]
Chr17:58235719 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.680C>T (p.Pro227Leu) single nucleotide variant not provided [RCV001309420] Chr17:60158382 [GRCh38]
Chr17:58235743 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.320C>T (p.Ala107Val) single nucleotide variant not provided [RCV001307833] Chr17:60157478 [GRCh38]
Chr17:58234839 [GRCh37]
Chr17:17q23.1
uncertain significance
NC_000017.10:g.(?_58227396)_(58236785_?)dup duplication not provided [RCV001308061] Chr17:58227396..58236785 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_000717.5(CA4):c.391G>A (p.Asp131Asn) single nucleotide variant not provided [RCV001339501] Chr17:60157549 [GRCh38]
Chr17:58234910 [GRCh37]
Chr17:17q23.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1375 AgrOrtholog
COSMIC CA4 COSMIC
Ensembl Genes ENSG00000167434 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000300900 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464757 UniProtKB/TrEMBL
  ENSP00000465837 UniProtKB/TrEMBL
  ENSP00000466964 UniProtKB/TrEMBL
  ENSP00000467465 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000300900 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000586876 UniProtKB/Swiss-Prot
  ENST00000587265 UniProtKB/TrEMBL
  ENST00000590203 UniProtKB/TrEMBL
  ENST00000591725 UniProtKB/TrEMBL
Gene3D-CATH 3.10.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167434 GTEx
HGNC ID HGNC:1375 ENTREZGENE
Human Proteome Map CA4 Human Proteome Map
InterPro CA4/CA15 UniProtKB/Swiss-Prot
  CA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carbonic_anhydrase_a-class UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carbonic_anhydrase_a-class_CS UniProtKB/Swiss-Prot
  Carbonic_anhydrase_CA4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:762 UniProtKB/Swiss-Prot
NCBI Gene 762 ENTREZGENE
OMIM 114760 OMIM
PANTHER PTHR18952 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18952:SF95 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Carb_anhydrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25991 PharmGKB
PROSITE ALPHA_CA_1 UniProtKB/Swiss-Prot
  ALPHA_CA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Carb_anhydrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51069 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CAH4_HUMAN UniProtKB/Swiss-Prot
  K7EIH9_HUMAN UniProtKB/TrEMBL
  K7EKY5_HUMAN UniProtKB/TrEMBL
  K7ENI8_HUMAN UniProtKB/TrEMBL
  P22748 ENTREZGENE
UniProt Secondary B4DQA4 UniProtKB/Swiss-Prot
  Q6FHI7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 CA4  carbonic anhydrase 4  RP17  retinitis pigmentosa 17 (autosomal dominant)  Data Merged 737654 PROVISIONAL
2016-03-28 CA4  carbonic anhydrase 4    carbonic anhydrase IV  Symbol and/or name change 5135510 APPROVED