CAMSAP2 (calmodulin regulated spectrin associated protein family member 2) - Rat Genome Database

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Gene: CAMSAP2 (calmodulin regulated spectrin associated protein family member 2) Homo sapiens
Analyze
Symbol: CAMSAP2
Name: calmodulin regulated spectrin associated protein family member 2
RGD ID: 1604039
HGNC Page HGNC:29188
Description: Enables microtubule minus-end binding activity. Involved in several processes, including axon development; regulation of dendrite development; and regulation of organelle organization. Located in Golgi apparatus; cytosol; and microtubule cytoskeleton.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: calmodulin regulated spectrin-associated protein 1-like 1; calmodulin regulated spectrin-associated protein family, member 2; calmodulin-regulated spectrin-associated protein 1-like protein 1; calmodulin-regulated spectrin-associated protein 2; CAMSAP1L1; KIAA1078; MGC150680; MGC150681; RP11-93N17.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381200,738,893 - 200,860,704 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1200,738,893 - 200,860,707 (+)EnsemblGRCh38hg38GRCh38
GRCh371200,708,021 - 200,829,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361198,975,309 - 199,096,455 (+)NCBINCBI36Build 36hg18NCBI36
Celera1173,831,311 - 173,953,903 (+)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1171,875,247 - 171,996,963 (+)NCBIHuRef
CHM1_11202,131,398 - 202,252,507 (+)NCBICHM1_1
T2T-CHM13v2.01199,995,917 - 200,117,682 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:10470851   PMID:12107410   PMID:12477932   PMID:14702039   PMID:15345747   PMID:15561718   PMID:15897902   PMID:16713569   PMID:19322201   PMID:19508979   PMID:20195357   PMID:21873635  
PMID:22116939   PMID:23169647   PMID:24148305   PMID:24486153   PMID:24706919   PMID:24908486   PMID:25544563   PMID:25921289   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26972000  
PMID:27173435   PMID:27666745   PMID:27684187   PMID:28514442   PMID:28718761   PMID:28726242   PMID:29089450   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29778605   PMID:30021884  
PMID:30344098   PMID:31024071   PMID:31527615   PMID:32084403   PMID:32206120   PMID:32238831   PMID:32908313   PMID:33782614   PMID:33845483   PMID:33916271   PMID:33961781   PMID:34048709  
PMID:34079125   PMID:34349018   PMID:35188072   PMID:35271311   PMID:35575683   PMID:35831314   PMID:36114006   PMID:36215168   PMID:36779422   PMID:36931259   PMID:37567766   PMID:37814859  
PMID:38159595  


Genomics

Comparative Map Data
CAMSAP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381200,738,893 - 200,860,704 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1200,738,893 - 200,860,707 (+)EnsemblGRCh38hg38GRCh38
GRCh371200,708,021 - 200,829,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361198,975,309 - 199,096,455 (+)NCBINCBI36Build 36hg18NCBI36
Celera1173,831,311 - 173,953,903 (+)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1171,875,247 - 171,996,963 (+)NCBIHuRef
CHM1_11202,131,398 - 202,252,507 (+)NCBICHM1_1
T2T-CHM13v2.01199,995,917 - 200,117,682 (+)NCBIT2T-CHM13v2.0
Camsap2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391136,195,861 - 136,273,855 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1136,195,861 - 136,273,842 (-)EnsemblGRCm39 Ensembl
GRCm381136,268,123 - 136,346,117 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1136,268,123 - 136,346,104 (-)EnsemblGRCm38mm10GRCm38
MGSCv371138,164,700 - 138,242,681 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361138,084,534 - 138,162,515 (-)NCBIMGSCv36mm8
Celera1138,903,839 - 138,981,241 (-)NCBICelera
Cytogenetic Map1E4NCBI
cM Map159.61NCBI
Camsap2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81350,274,950 - 50,354,298 (-)NCBIGRCr8
mRatBN7.21347,723,251 - 47,802,606 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1347,723,121 - 47,802,597 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1350,331,217 - 50,410,686 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01351,619,305 - 51,698,772 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01348,886,259 - 48,965,470 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01353,145,712 - 53,225,349 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1353,145,712 - 53,225,349 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01358,197,543 - 58,276,697 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41349,309,232 - 49,388,931 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11349,323,577 - 49,402,350 (-)NCBI
Celera1348,034,991 - 48,114,872 (-)NCBICelera
Cytogenetic Map13q13NCBI
Camsap2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540636,957,523 - 37,055,748 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540636,958,337 - 37,055,748 (+)NCBIChiLan1.0ChiLan1.0
CAMSAP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2148,519,600 - 48,641,284 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1148,483,195 - 48,605,274 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01176,339,766 - 176,460,808 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11180,644,200 - 180,764,136 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1180,644,200 - 180,764,136 (+)Ensemblpanpan1.1panPan2
CAMSAP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.172,317,986 - 2,432,421 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl72,320,220 - 2,432,603 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha72,002,197 - 2,118,572 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.071,963,896 - 2,080,591 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl71,964,323 - 2,080,846 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.171,948,044 - 2,064,659 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.072,050,067 - 2,166,198 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.072,080,488 - 2,197,121 (-)NCBIUU_Cfam_GSD_1.0
Camsap2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934474,262,628 - 74,356,299 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365673,497,046 - 3,590,392 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365673,497,304 - 3,590,967 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAMSAP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1023,275,322 - 23,360,167 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11023,275,302 - 23,360,167 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21027,745,913 - 27,800,098 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CAMSAP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12528,542,480 - 28,659,197 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2528,542,143 - 28,659,060 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605529,342,156 - 29,456,839 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Camsap2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248079,766,139 - 9,879,513 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248079,766,238 - 9,879,930 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CAMSAP2
60 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
NM_203459.2(CAMSAP2):c.2225C>T (p.Thr742Ile) single nucleotide variant Malignant melanoma [RCV000064437] Chr1:200848994 [GRCh38]
Chr1:200818122 [GRCh37]
Chr1:199084745 [NCBI36]
Chr1:1q32.1		 not provided
GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1 copy number loss See cases [RCV000133625] Chr1:200144603..203112078 [GRCh38]
Chr1:200113731..203081206 [GRCh37]
Chr1:198380354..201347829 [NCBI36]
Chr1:1q32.1		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
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 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_203459.4(CAMSAP2):c.3715A>G (p.Thr1239Ala) single nucleotide variant not specified [RCV004314925] Chr1:200853387 [GRCh38]
Chr1:200822515 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.4174C>T (p.Arg1392Trp) single nucleotide variant not specified [RCV004304430] Chr1:200857796 [GRCh38]
Chr1:200826924 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1(chr1:200799541-201011646)x3 copy number gain not provided [RCV000684685] Chr1:200799541..201011646 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 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 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
NM_203459.4(CAMSAP2):c.1868T>C (p.Met623Thr) single nucleotide variant Premature ovarian insufficiency [RCV000766157] Chr1:200848637 [GRCh38]
Chr1:200817765 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.2510T>G (p.Ile837Arg) single nucleotide variant Premature ovarian insufficiency [RCV000766158]|not provided [RCV004691293] Chr1:200849279 [GRCh38]
Chr1:200818407 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1(chr1:200575876-200784156)x4 copy number gain not provided [RCV000846349] Chr1:200575876..200784156 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_203459.4(CAMSAP2):c.1790G>A (p.Gly597Asp) single nucleotide variant not specified [RCV004313483] Chr1:200848559 [GRCh38]
Chr1:200817687 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3083C>G (p.Pro1028Arg) single nucleotide variant not provided [RCV000955260] Chr1:200849852 [GRCh38]
Chr1:200818980 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q32.1(chr1:200795738-201013947)x3 copy number gain not provided [RCV002472891] Chr1:200795738..201013947 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
NM_203459.4(CAMSAP2):c.4187G>A (p.Cys1396Tyr) single nucleotide variant not specified [RCV004289639] Chr1:200857809 [GRCh38]
Chr1:200826937 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_203459.4(CAMSAP2):c.1961C>G (p.Thr654Ser) single nucleotide variant not specified [RCV004202514] Chr1:200848730 [GRCh38]
Chr1:200817858 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3577A>G (p.Met1193Val) single nucleotide variant not specified [RCV004196647] Chr1:200852652 [GRCh38]
Chr1:200821780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3397T>C (p.Tyr1133His) single nucleotide variant not specified [RCV004157929] Chr1:200850166 [GRCh38]
Chr1:200819294 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.70C>T (p.His24Tyr) single nucleotide variant not specified [RCV004108280] Chr1:200739897 [GRCh38]
Chr1:200709025 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_203459.4(CAMSAP2):c.3290C>A (p.Pro1097His) single nucleotide variant not specified [RCV004100785] Chr1:200850059 [GRCh38]
Chr1:200819187 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3619G>C (p.Glu1207Gln) single nucleotide variant not specified [RCV004095735] Chr1:200853291 [GRCh38]
Chr1:200822419 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.4105G>A (p.Glu1369Lys) single nucleotide variant not specified [RCV004147533] Chr1:200857398 [GRCh38]
Chr1:200826526 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.104A>G (p.Asn35Ser) single nucleotide variant not specified [RCV004202042] Chr1:200739931 [GRCh38]
Chr1:200709059 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.2243C>G (p.Ser748Cys) single nucleotide variant not provided [RCV004691507]|not specified [RCV004082341] Chr1:200849012 [GRCh38]
Chr1:200818140 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.247C>T (p.Arg83Cys) single nucleotide variant not specified [RCV004181561] Chr1:200760946 [GRCh38]
Chr1:200730074 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.272G>A (p.Ser91Asn) single nucleotide variant not specified [RCV004222489] Chr1:200760971 [GRCh38]
Chr1:200730099 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3379G>A (p.Asp1127Asn) single nucleotide variant not specified [RCV004096872] Chr1:200850148 [GRCh38]
Chr1:200819276 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.1067C>T (p.Ala356Val) single nucleotide variant not specified [RCV004096575] Chr1:200844827 [GRCh38]
Chr1:200813955 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.2180G>C (p.Trp727Ser) single nucleotide variant not specified [RCV004182675] Chr1:200848949 [GRCh38]
Chr1:200818077 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.2741A>G (p.Gln914Arg) single nucleotide variant not specified [RCV004230568] Chr1:200849510 [GRCh38]
Chr1:200818638 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.134G>A (p.Gly45Glu) single nucleotide variant not specified [RCV004155689] Chr1:200739961 [GRCh38]
Chr1:200709089 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3914G>C (p.Gly1305Ala) single nucleotide variant not specified [RCV004224859] Chr1:200856027 [GRCh38]
Chr1:200825155 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3805C>T (p.Pro1269Ser) single nucleotide variant not specified [RCV004142388] Chr1:200853477 [GRCh38]
Chr1:200822605 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.1120G>T (p.Ala374Ser) single nucleotide variant not specified [RCV004210250] Chr1:200847220 [GRCh38]
Chr1:200816348 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.2045C>G (p.Ser682Cys) single nucleotide variant not specified [RCV004144588] Chr1:200848814 [GRCh38]
Chr1:200817942 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3122A>T (p.Lys1041Met) single nucleotide variant not specified [RCV004227349] Chr1:200849891 [GRCh38]
Chr1:200819019 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.803A>C (p.Glu268Ala) single nucleotide variant not specified [RCV004189846] Chr1:200832721 [GRCh38]
Chr1:200801849 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.769G>A (p.Asp257Asn) single nucleotide variant not specified [RCV004219452] Chr1:200832323 [GRCh38]
Chr1:200801451 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.1348C>T (p.Arg450Cys) single nucleotide variant not specified [RCV004086557] Chr1:200848117 [GRCh38]
Chr1:200817245 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.406C>T (p.His136Tyr) single nucleotide variant not specified [RCV004149900] Chr1:200807382 [GRCh38]
Chr1:200776510 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.1724T>C (p.Met575Thr) single nucleotide variant not specified [RCV004089791] Chr1:200848493 [GRCh38]
Chr1:200817621 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.635G>C (p.Gly212Ala) single nucleotide variant not specified [RCV004301333] Chr1:200815634 [GRCh38]
Chr1:200784762 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.61C>A (p.Pro21Thr) single nucleotide variant not specified [RCV004250914] Chr1:200739888 [GRCh38]
Chr1:200709016 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3301G>A (p.Val1101Ile) single nucleotide variant not specified [RCV004251733] Chr1:200850070 [GRCh38]
Chr1:200819198 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3682C>T (p.Arg1228Trp) single nucleotide variant not specified [RCV004262312] Chr1:200853354 [GRCh38]
Chr1:200822482 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.118G>A (p.Val40Met) single nucleotide variant not specified [RCV004268048] Chr1:200739945 [GRCh38]
Chr1:200709073 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3554G>A (p.Arg1185Gln) single nucleotide variant not specified [RCV004283134] Chr1:200852629 [GRCh38]
Chr1:200821757 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.1342A>G (p.Ile448Val) single nucleotide variant not specified [RCV004263386] Chr1:200848111 [GRCh38]
Chr1:200817239 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.1861G>A (p.Glu621Lys) single nucleotide variant not specified [RCV004269918] Chr1:200848630 [GRCh38]
Chr1:200817758 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.109G>T (p.Ala37Ser) single nucleotide variant not specified [RCV004351224] Chr1:200739936 [GRCh38]
Chr1:200709064 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3082C>T (p.Pro1028Ser) single nucleotide variant not specified [RCV004337002] Chr1:200849851 [GRCh38]
Chr1:200818979 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1 copy number loss not specified [RCV003986384] Chr1:197216705..203683110 [GRCh37]
Chr1:1q31.3-32.1		 likely pathogenic
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3 copy number gain not specified [RCV003986684] Chr1:199373229..204335027 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_203459.4(CAMSAP2):c.2984C>T (p.Pro995Leu) single nucleotide variant not specified [RCV004434712] Chr1:200849753 [GRCh38]
Chr1:200818881 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3992C>T (p.Ala1331Val) single nucleotide variant not specified [RCV004434717] Chr1:200856105 [GRCh38]
Chr1:200825233 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.2639A>G (p.Tyr880Cys) single nucleotide variant not specified [RCV004434710] Chr1:200849408 [GRCh38]
Chr1:200818536 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3806C>A (p.Pro1269Gln) single nucleotide variant not specified [RCV004434716] Chr1:200853478 [GRCh38]
Chr1:200822606 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3697C>G (p.Leu1233Val) single nucleotide variant not specified [RCV004434715] Chr1:200853369 [GRCh38]
Chr1:200822497 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.436G>A (p.Ala146Thr) single nucleotide variant not specified [RCV004434719] Chr1:200807412 [GRCh38]
Chr1:200776540 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.2781G>T (p.Gln927His) single nucleotide variant not specified [RCV004434711] Chr1:200849550 [GRCh38]
Chr1:200818678 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.2167C>T (p.His723Tyr) single nucleotide variant not specified [RCV004434709] Chr1:200848936 [GRCh38]
Chr1:200818064 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3383T>G (p.Val1128Gly) single nucleotide variant not specified [RCV004434713] Chr1:200850152 [GRCh38]
Chr1:200819280 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.343A>G (p.Thr115Ala) single nucleotide variant not specified [RCV004434714] Chr1:200761042 [GRCh38]
Chr1:200730170 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.4102A>C (p.Asn1368His) single nucleotide variant not specified [RCV004434718] Chr1:200857395 [GRCh38]
Chr1:200826523 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.2675A>G (p.His892Arg) single nucleotide variant not specified [RCV004600678] Chr1:200849444 [GRCh38]
Chr1:200818572 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_190829412)_(216061974_?)del deletion not provided [RCV004579260] Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41		 pathogenic
NM_203459.4(CAMSAP2):c.3074A>C (p.Asp1025Ala) single nucleotide variant not specified [RCV004600676] Chr1:200849843 [GRCh38]
Chr1:200818971 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.1894T>G (p.Tyr632Asp) single nucleotide variant not specified [RCV004600679] Chr1:200848663 [GRCh38]
Chr1:200817791 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.1040T>A (p.Met347Lys) single nucleotide variant not specified [RCV004600677] Chr1:200844800 [GRCh38]
Chr1:200813928 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.479G>T (p.Cys160Phe) single nucleotide variant not specified [RCV004600680] Chr1:200807455 [GRCh38]
Chr1:200776583 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_203459.4(CAMSAP2):c.3186C>G (p.Ile1062Met) single nucleotide variant not specified [RCV004607301] Chr1:200849955 [GRCh38]
Chr1:200819083 [GRCh37]
Chr1:1q32.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2135
Count of miRNA genes:753
Interacting mature miRNAs:860
Transcripts:ENST00000236925, ENST00000358823, ENST00000413307, ENST00000447701, ENST00000475326, ENST00000532732
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407278918GWAS927894_Hbody height QTL GWAS927894 (human)7e-14body height (VT:0001253)body height (CMO:0000106)1200838118200838119Human
407004051GWAS653027_Hhepatocyte growth factor measurement QTL GWAS653027 (human)0.000005hepatocyte growth factor measurement1200817155200817156Human
407025139GWAS674115_Hepilepsy QTL GWAS674115 (human)1e-08epilepsy1200857641200857642Human
407257735GWAS906711_Hmyocardial infarction QTL GWAS906711 (human)0.000007myocardial infarction1200846799200846800Human
407374729GWAS1023705_Hheel bone mineral density QTL GWAS1023705 (human)2e-20heel bone mineral densitybone mineral density (CMO:0001226)1200738940200738941Human
407014660GWAS663636_HThyroid preparation use measurement QTL GWAS663636 (human)4e-10Thyroid preparation use measurement1200842637200842638Human
407230498GWAS879474_Hbone density QTL GWAS879474 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1200837791200837792Human
407286412GWAS935388_Hbody height QTL GWAS935388 (human)3e-16body height (VT:0001253)body height (CMO:0000106)1200740668200740669Human
407224665GWAS873641_Htype 1 diabetes mellitus QTL GWAS873641 (human)4e-08type 1 diabetes mellitus1200845831200845832Human

Markers in Region
RH92112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371200,826,563 - 200,826,730UniSTSGRCh37
Build 361199,093,186 - 199,093,353RGDNCBI36
Celera1173,950,634 - 173,950,801RGD
Cytogenetic Map1q32.1UniSTS
HuRef1171,993,693 - 171,993,860UniSTS
GeneMap99-GB4 RH Map1665.63UniSTS
RH101923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371200,827,226 - 200,827,357UniSTSGRCh37
Build 361199,093,849 - 199,093,980RGDNCBI36
Celera1173,951,297 - 173,951,428RGD
Cytogenetic Map1q32.1UniSTS
HuRef1171,994,356 - 171,994,487UniSTS
GeneMap99-GB4 RH Map1665.11UniSTS
SHGC-81869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371200,712,043 - 200,712,331UniSTSGRCh37
Build 361198,978,666 - 198,978,954RGDNCBI36
Celera1173,834,668 - 173,834,956RGD
Cytogenetic Map1q32.1UniSTS
HuRef1171,878,604 - 171,878,892UniSTS
TNG Radiation Hybrid Map198021.0UniSTS
SHGC-76143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371200,712,524 - 200,712,646UniSTSGRCh37
Build 361198,979,147 - 198,979,269RGDNCBI36
Celera1173,835,149 - 173,835,271RGD
Cytogenetic Map1q32.1UniSTS
HuRef1171,879,082 - 171,879,204UniSTS
TNG Radiation Hybrid Map198021.0UniSTS
GeneMap99-GB4 RH Map1667.02UniSTS
NCBI RH Map11662.0UniSTS
SHGC-33046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371200,752,439 - 200,752,588UniSTSGRCh37
Build 361199,019,062 - 199,019,211RGDNCBI36
Celera1173,875,054 - 173,875,203RGD
Cytogenetic Map1q32.1UniSTS
HuRef1171,919,490 - 171,919,639UniSTS
Stanford-G3 RH Map17742.0UniSTS
GeneMap99-GB4 RH Map1665.38UniSTS
GeneMap99-GB4 RH Map1665.11UniSTS
Whitehead-RH Map1823.5UniSTS
NCBI RH Map11673.9UniSTS
GeneMap99-G3 RH Map17698.0UniSTS
SHGC-76122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371200,829,729 - 200,829,828UniSTSGRCh37
Build 361199,096,352 - 199,096,451RGDNCBI36
Celera1173,953,800 - 173,953,899RGD
Cytogenetic Map1q32.1UniSTS
HuRef1171,996,860 - 171,996,959UniSTS
GeneMap99-GB4 RH Map1665.63UniSTS
Whitehead-RH Map1823.3UniSTS
NCBI RH Map11670.6UniSTS
SHGC-76118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371200,819,041 - 200,819,281UniSTSGRCh37
Build 361199,085,664 - 199,085,904RGDNCBI36
Celera1173,943,112 - 173,943,352RGD
Cytogenetic Map1q32.1UniSTS
HuRef1171,986,181 - 171,986,421UniSTS
GeneMap99-GB4 RH Map1665.18UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4973 1726 2351 6 624 1929 465 2269 7285 6451 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001297707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA625716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB029001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA388618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H14341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000236925   ⟹   ENSP00000236925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1200,739,779 - 200,860,707 (+)Ensembl
Ensembl Acc Id: ENST00000358823   ⟹   ENSP00000351684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1200,738,893 - 200,860,704 (+)Ensembl
Ensembl Acc Id: ENST00000413307   ⟹   ENSP00000416800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1200,739,779 - 200,858,119 (+)Ensembl
Ensembl Acc Id: ENST00000447701   ⟹   ENSP00000395365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1200,832,716 - 200,853,415 (+)Ensembl
Ensembl Acc Id: ENST00000475326   ⟹   ENSP00000434766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1200,856,094 - 200,857,724 (+)Ensembl
Ensembl Acc Id: ENST00000532732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1200,832,108 - 200,832,834 (+)Ensembl
RefSeq Acc Id: NM_001297707   ⟹   NP_001284636
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381200,738,893 - 200,860,704 (+)NCBI
CHM1_11202,131,398 - 202,252,510 (+)NCBI
T2T-CHM13v2.01199,995,917 - 200,117,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001297708   ⟹   NP_001284637
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381200,738,893 - 200,860,704 (+)NCBI
CHM1_11202,131,398 - 202,252,510 (+)NCBI
T2T-CHM13v2.01199,995,917 - 200,117,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001389638   ⟹   NP_001376567
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381200,738,893 - 200,860,704 (+)NCBI
T2T-CHM13v2.01199,995,917 - 200,117,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203459   ⟹   NP_982284
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381200,738,893 - 200,860,704 (+)NCBI
GRCh371200,708,686 - 200,829,832 (+)RGD
Build 361198,975,309 - 199,096,455 (+)NCBI Archive
Celera1173,831,311 - 173,953,903 (+)RGD
HuRef1171,875,247 - 171,996,963 (+)ENTREZGENE
CHM1_11202,131,398 - 202,252,510 (+)NCBI
T2T-CHM13v2.01199,995,917 - 200,117,682 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000799   ⟹   XP_016856288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381200,738,893 - 200,860,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416200   ⟹   XP_047272156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381200,738,893 - 200,860,704 (+)NCBI
RefSeq Acc Id: XM_047416203   ⟹   XP_047272159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381200,738,893 - 200,860,704 (+)NCBI
RefSeq Acc Id: XM_054335487   ⟹   XP_054191462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01199,995,917 - 200,117,682 (+)NCBI
RefSeq Acc Id: XM_054335488   ⟹   XP_054191463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01199,995,917 - 200,117,682 (+)NCBI
RefSeq Acc Id: XM_054335489   ⟹   XP_054191464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01199,995,917 - 200,117,682 (+)NCBI
RefSeq Acc Id: NP_982284   ⟸   NM_203459
- Peptide Label: isoform 2
- UniProtKB: Q08AD1 (UniProtKB/Swiss-Prot),   B3KTI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001284636   ⟸   NM_001297707
- Peptide Label: isoform 1
- UniProtKB: Q9UG20 (UniProtKB/Swiss-Prot),   Q96FB3 (UniProtKB/Swiss-Prot),   Q6PGN8 (UniProtKB/Swiss-Prot),   Q08AD2 (UniProtKB/Swiss-Prot),   B1APG6 (UniProtKB/Swiss-Prot),   Q9UPS4 (UniProtKB/Swiss-Prot),   Q08AD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001284637   ⟸   NM_001297708
- Peptide Label: isoform 3
- UniProtKB: Q08AD1 (UniProtKB/Swiss-Prot),   B3KTI4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856288   ⟸   XM_017000799
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000416800   ⟸   ENST00000413307
Ensembl Acc Id: ENSP00000236925   ⟸   ENST00000236925
Ensembl Acc Id: ENSP00000395365   ⟸   ENST00000447701
Ensembl Acc Id: ENSP00000434766   ⟸   ENST00000475326
Ensembl Acc Id: ENSP00000351684   ⟸   ENST00000358823
RefSeq Acc Id: NP_001376567   ⟸   NM_001389638
- Peptide Label: isoform 4
RefSeq Acc Id: XP_047272156   ⟸   XM_047416200
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047272159   ⟸   XM_047416203
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054191462   ⟸   XM_054335487
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054191463   ⟸   XM_054335488
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054191464   ⟸   XM_054335489
- Peptide Label: isoform X3
Protein Domains
Calmodulin-regulated spectrin-associated protein-   Calponin-homology (CH)   CKK

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q08AD1-F1-model_v2 AlphaFold Q08AD1 1-1489 view protein structure

Promoters
RGD ID:6784850
Promoter ID:HG_KWN:6732
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000367344,   NM_203459,   OTTHUMT00000087034,   UC001GVL.1,   UC001GVM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361198,974,451 - 198,975,352 (+)MPROMDB
RGD ID:6858516
Promoter ID:EPDNEW_H2423
Type:initiation region
Name:CAMSAP2_1
Description:calmodulin regulated spectrin associated protein family member2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381200,738,893 - 200,738,953EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29188 AgrOrtholog
COSMIC CAMSAP2 COSMIC
Ensembl Genes ENSG00000118200 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000236925 ENTREZGENE
  ENST00000236925.8 UniProtKB/Swiss-Prot
  ENST00000358823 ENTREZGENE
  ENST00000358823.7 UniProtKB/Swiss-Prot
  ENST00000413307 ENTREZGENE
  ENST00000413307.6 UniProtKB/Swiss-Prot
  ENST00000447701.2 UniProtKB/TrEMBL
  ENST00000475326.1 UniProtKB/TrEMBL
Gene3D-CATH 3.10.20.360 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118200 GTEx
HGNC ID HGNC:29188 ENTREZGENE
Human Proteome Map CAMSAP2 Human Proteome Map
InterPro CAMSAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAMSAP_CC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAMSAP_CH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CKK_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CKK_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRC_barrel-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23271 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23271 ENTREZGENE
OMIM 613775 OMIM
PANTHER CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21595 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CAMSAP_CC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAMSAP_CH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAMSAP_CKK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672206 PharmGKB
PROSITE CKK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CAMSAP_CKK UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50346 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1APG6 ENTREZGENE
  B3KTI4 ENTREZGENE, UniProtKB/TrEMBL
  CAMP2_HUMAN UniProtKB/Swiss-Prot
  H0Y4Z1_HUMAN UniProtKB/TrEMBL
  H0YE13_HUMAN UniProtKB/TrEMBL
  Q08AD1 ENTREZGENE
  Q08AD2 ENTREZGENE
  Q6PGN8 ENTREZGENE
  Q96FB3 ENTREZGENE
  Q9UG20 ENTREZGENE
  Q9UPS4 ENTREZGENE
UniProt Secondary B1APG6 UniProtKB/Swiss-Prot
  Q08AD2 UniProtKB/Swiss-Prot
  Q6PGN8 UniProtKB/Swiss-Prot
  Q96FB3 UniProtKB/Swiss-Prot
  Q9UG20 UniProtKB/Swiss-Prot
  Q9UPS4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 CAMSAP2  calmodulin regulated spectrin associated protein family member 2    calmodulin regulated spectrin-associated protein family, member 2  Symbol and/or name change 5135510 APPROVED
2011-09-01 CAMSAP2  calmodulin regulated spectrin-associated protein family, member 2  CAMSAP1L1  calmodulin regulated spectrin-associated protein 1-like 1  Symbol and/or name change 5135510 APPROVED