Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Lung Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:27935865 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Lung Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:27935865 | |
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# | 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 |
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 | PMID:36280802 |
CLCA2 (Homo sapiens - human) |
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Clca2 (Mus musculus - house mouse) |
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Clca2 (Rattus norvegicus - Norway rat) |
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Clca2 (Chinchilla lanigera - long-tailed chinchilla) |
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CLCA2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CLCA2 (Canis lupus familiaris - dog) |
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Clca2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CLCA2 (Sus scrofa - pig) |
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CLCA2 (Chlorocebus sabaeus - green monkey) |
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Clca2 (Heterocephalus glaber - naked mole-rat) |
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Variants in CLCA2
54 total 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 |
NM_006536.7(CLCA2):c.473G>C (p.Arg158Pro) | single nucleotide variant | Inborn genetic diseases [RCV003251107] | Chr1:86428566 [GRCh38] Chr1:86894249 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1372C>G (p.Arg458Gly) | single nucleotide variant | Inborn genetic diseases [RCV003288862] | Chr1:86440316 [GRCh38] Chr1:86905999 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.358C>T (p.His120Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003253006] | Chr1:86428451 [GRCh38] Chr1:86894134 [GRCh37] Chr1:1p22.3 |
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 |
NM_006536.7(CLCA2):c.1286G>C (p.Cys429Ser) | single nucleotide variant | Inborn genetic diseases [RCV003268430] | Chr1:86440230 [GRCh38] Chr1:86905913 [GRCh37] Chr1:1p22.3 |
uncertain significance |
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 |
NM_006536.7(CLCA2):c.2168T>C (p.Met723Thr) | single nucleotide variant | Inborn genetic diseases [RCV003289966] | Chr1:86453381 [GRCh38] Chr1:86919064 [GRCh37] Chr1:1p22.3 |
uncertain significance |
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.808T>C (p.Cys270Arg) | single nucleotide variant | Inborn genetic diseases [RCV003271627] | Chr1:86434581 [GRCh38] Chr1:86900264 [GRCh37] Chr1:1p22.3 |
uncertain significance |
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 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 |
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 |
NM_006536.7(CLCA2):c.151G>A (p.Val51Ile) | single nucleotide variant | Inborn genetic diseases [RCV002816837] | Chr1:86424398 [GRCh38] Chr1:86890081 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.2705T>C (p.Ile902Thr) | single nucleotide variant | Inborn genetic diseases [RCV002858928] | Chr1:86455400 [GRCh38] Chr1:86921083 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1846C>T (p.Leu616Phe) | single nucleotide variant | Inborn genetic diseases [RCV002945146] | Chr1:86447640 [GRCh38] Chr1:86913323 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.505C>T (p.Leu169Phe) | single nucleotide variant | Inborn genetic diseases [RCV002773137] | Chr1:86430891 [GRCh38] Chr1:86896574 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1345G>A (p.Ala449Thr) | single nucleotide variant | Inborn genetic diseases [RCV002729055] | Chr1:86440289 [GRCh38] Chr1:86905972 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.52C>G (p.Leu18Val) | single nucleotide variant | Inborn genetic diseases [RCV002753160] | Chr1:86424299 [GRCh38] Chr1:86889982 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1935G>T (p.Glu645Asp) | single nucleotide variant | Inborn genetic diseases [RCV002777843] | Chr1:86447729 [GRCh38] Chr1:86913412 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.2039C>T (p.Ala680Val) | single nucleotide variant | Inborn genetic diseases [RCV002860404] | Chr1:86450617 [GRCh38] Chr1:86916300 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.2668C>T (p.Pro890Ser) | single nucleotide variant | Inborn genetic diseases [RCV002990278] | Chr1:86455363 [GRCh38] Chr1:86921046 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1055C>T (p.Ala352Val) | single nucleotide variant | Inborn genetic diseases [RCV002951401] | Chr1:86438958 [GRCh38] Chr1:86904641 [GRCh37] Chr1:1p22.3 |
likely benign |
NM_006536.7(CLCA2):c.2134G>A (p.Val712Ile) | single nucleotide variant | Inborn genetic diseases [RCV003001329] | Chr1:86450712 [GRCh38] Chr1:86916395 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1343C>T (p.Ser448Phe) | single nucleotide variant | Inborn genetic diseases [RCV002705121] | Chr1:86440287 [GRCh38] Chr1:86905970 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1823A>C (p.Glu608Ala) | single nucleotide variant | Inborn genetic diseases [RCV002822502] | Chr1:86447617 [GRCh38] Chr1:86913300 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.856C>T (p.His286Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002783887] | Chr1:86434629 [GRCh38] Chr1:86900312 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.892C>T (p.Pro298Ser) | single nucleotide variant | Inborn genetic diseases [RCV002738994] | Chr1:86434665 [GRCh38] Chr1:86900348 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1034T>C (p.Ile345Thr) | single nucleotide variant | Inborn genetic diseases [RCV002952007] | Chr1:86438937 [GRCh38] Chr1:86904620 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.2624A>G (p.Gln875Arg) | single nucleotide variant | Inborn genetic diseases [RCV002659913] | Chr1:86455319 [GRCh38] Chr1:86921002 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1063G>A (p.Asp355Asn) | single nucleotide variant | Inborn genetic diseases [RCV002758687] | Chr1:86438966 [GRCh38] Chr1:86904649 [GRCh37] Chr1:1p22.3 |
likely benign |
NM_006536.7(CLCA2):c.1475A>G (p.Gln492Arg) | single nucleotide variant | Inborn genetic diseases [RCV002930100] | Chr1:86441530 [GRCh38] Chr1:86907213 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.2215T>G (p.Trp739Gly) | single nucleotide variant | Inborn genetic diseases [RCV002768098] | Chr1:86453428 [GRCh38] Chr1:86919111 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.995A>G (p.Gln332Arg) | single nucleotide variant | Inborn genetic diseases [RCV002891246] | Chr1:86438898 [GRCh38] Chr1:86904581 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.359A>G (p.His120Arg) | single nucleotide variant | Inborn genetic diseases [RCV002930517] | Chr1:86428452 [GRCh38] Chr1:86894135 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.745G>T (p.Val249Leu) | single nucleotide variant | Inborn genetic diseases [RCV002915747] | Chr1:86434518 [GRCh38] Chr1:86900201 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.497G>C (p.Trp166Ser) | single nucleotide variant | Inborn genetic diseases [RCV002892604] | Chr1:86430883 [GRCh38] Chr1:86896566 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.2251T>C (p.Ser751Pro) | single nucleotide variant | Inborn genetic diseases [RCV002664743] | Chr1:86453464 [GRCh38] Chr1:86919147 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1001C>G (p.Ala334Gly) | single nucleotide variant | Inborn genetic diseases [RCV002698204] | Chr1:86438904 [GRCh38] Chr1:86904587 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.536A>G (p.Asn179Ser) | single nucleotide variant | Inborn genetic diseases [RCV002916766] | Chr1:86430922 [GRCh38] Chr1:86896605 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.46G>T (p.Val16Leu) | single nucleotide variant | Inborn genetic diseases [RCV002769232] | Chr1:86424293 [GRCh38] Chr1:86889976 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1787G>A (p.Arg596His) | single nucleotide variant | Inborn genetic diseases [RCV003008657] | Chr1:86447581 [GRCh38] Chr1:86913264 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.2251T>A (p.Ser751Thr) | single nucleotide variant | Inborn genetic diseases [RCV002702333] | Chr1:86453464 [GRCh38] Chr1:86919147 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.479G>A (p.Arg160Gln) | single nucleotide variant | Inborn genetic diseases [RCV002964335] | Chr1:86430865 [GRCh38] Chr1:86896548 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.908C>T (p.Ser303Leu) | single nucleotide variant | Inborn genetic diseases [RCV002680355] | Chr1:86434681 [GRCh38] Chr1:86900364 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.2345C>T (p.Thr782Ile) | single nucleotide variant | Inborn genetic diseases [RCV002678228] | Chr1:86453558 [GRCh38] Chr1:86919241 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.232A>G (p.Arg78Gly) | single nucleotide variant | Inborn genetic diseases [RCV003210343] | Chr1:86425384 [GRCh38] Chr1:86891067 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.1562G>T (p.Gly521Val) | single nucleotide variant | Inborn genetic diseases [RCV003200433] | Chr1:86443860 [GRCh38] Chr1:86909543 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.2196A>C (p.Arg732Ser) | single nucleotide variant | Inborn genetic diseases [RCV003206229] | Chr1:86453409 [GRCh38] Chr1:86919092 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.2548C>T (p.His850Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003184605] | Chr1:86455243 [GRCh38] Chr1:86920926 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.960C>G (p.Ser320Arg) | single nucleotide variant | Inborn genetic diseases [RCV003179742] | Chr1:86434733 [GRCh38] Chr1:86900416 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.946C>G (p.Leu316Val) | single nucleotide variant | Inborn genetic diseases [RCV003285546] | Chr1:86434719 [GRCh38] Chr1:86900402 [GRCh37] Chr1:1p22.3 |
uncertain significance |
NM_006536.7(CLCA2):c.585-4T>G | single nucleotide variant | not provided [RCV003406584] | Chr1:86432365 [GRCh38] Chr1:86898048 [GRCh37] Chr1:1p22.3 |
likely benign |
NM_006536.7(CLCA2):c.909G>A (p.Ser303=) | single nucleotide variant | not provided [RCV003406585] | Chr1:86434682 [GRCh38] Chr1:86900365 [GRCh37] Chr1:1p22.3 |
likely benign |
NM_006536.7(CLCA2):c.1574T>C (p.Met525Thr) | single nucleotide variant | not provided [RCV003406587] | Chr1:86443872 [GRCh38] Chr1:86909555 [GRCh37] Chr1:1p22.3 |
likely benign |
NM_006536.7(CLCA2):c.1063G>T (p.Asp355Tyr) | single nucleotide variant | not provided [RCV003406586] | Chr1:86438966 [GRCh38] Chr1:86904649 [GRCh37] Chr1:1p22.3 |
likely benign |
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. |
SHGC-75095 |
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G59429 |
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RH119026 |
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SHGC-156130 |
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CLCA2_8968 |
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G54627 |
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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 |
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 | |
XM_054339725 | (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 |
RefSeq Acc Id: | ENST00000370565 ⟹ ENSP00000359596 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000490884 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000498802 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_006536 ⟹ NP_006527 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011542448 ⟹ XP_011540750 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_054339725 ⟹ XP_054195700 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_006527 | (Get FASTA) | NCBI Sequence Viewer |
XP_011540750 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195700 | (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 | |
Ensembl Protein | ENSP00000359596 | ||
ENSP00000359596.4 | |||
GenBank Protein | Q9UQC9 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_006527 ⟸ NM_006536 |
- Peptide Label: | preproprotein |
- UniProtKB: | A8K2T3 (UniProtKB/Swiss-Prot), Q9Y6N2 (UniProtKB/Swiss-Prot), Q9UQC9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011540750 ⟸ XM_011542448 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | ENSP00000359596 ⟸ ENST00000370565 |
RefSeq Acc Id: | XP_054195700 ⟸ XM_054339725 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9UQC9-F1-model_v2 | AlphaFold | Q9UQC9 | 1-943 | view protein structure |
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: |
|
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: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:2016 | AgrOrtholog |
COSMIC | CLCA2 | COSMIC |
Ensembl Genes | ENSG00000137975 | Ensembl, ENTREZGENE, 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 |
PANTHER | CALCIUM-ACTIVATED CHLORIDE CHANNEL REGULATOR | UniProtKB/Swiss-Prot |
CALCIUM-ACTIVATED CHLORIDE CHANNEL REGULATOR 2 | UniProtKB/Swiss-Prot | |
Pfam | CLCA | UniProtKB/Swiss-Prot |
PharmGKB | PA26543 | PharmGKB |
PROSITE | VWFA | UniProtKB/Swiss-Prot |
SMART | VWA | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF53300 | UniProtKB/Swiss-Prot |
UniProt | A8K2T3 | ENTREZGENE |
CLCA2_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q9Y6N2 | ENTREZGENE | |
UniProt Secondary | A8K2T3 | UniProtKB/Swiss-Prot |
Q9Y6N2 | UniProtKB/Swiss-Prot |