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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9BWT7 |
| Protein name |
Caspase recruitment domain-containing protein 10 (CARD-containing MAGUK protein 3) (Carma 3) |
| Protein function |
Scaffold protein that plays an important role in mediating the activation of NF-kappa-B via BCL10 or EGFR. |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00619 |
CARD |
28 → 114 |
Caspase recruitment domain |
Domain |
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| Tissue specificity |
TISSUE SPECIFICITY: Detected in adult heart, kidney and liver; lower levels in intestine, placenta, muscle and lung. Also found in fetal lung, liver and kidney. |
| Sequence |
MPGRAEAGEAEEEAGAGSGSEAEEDALWERIEGVRHRLARALNPAKLTPYLRQCRVIDEQ DEEEVLSTYRFPCRVNRTGRLMDILRCRGKRGYEAFLEALEFYYPEHFTLLTGQEPAQRC SMILDEEGPEGLTQFLMTEVRRLREARKSQLQREQQLQARGRVLEEERAGLEQRLRDQQQ AQERCQRLREDWEAGSLELLRLKDENYMIAMRLAQLSEEKNSAVLRSRDLQLAVDQLKLK VSRLEEECALLRRARGPPPGAEEKEKEKEKEKEPDNVDLVSELRAENQRLTASLRELQEG LQQEASRPGAPGSERILLDILEHDWREAQDSRQELCQKLHAVQGELQWAEELRDQYLQEM EDLRLKHRTLQKDCDLYKHRMATVLAQLEEIEKERDQAIQSRDRIQLQYSQSLIEKDQYR KQVRGLEAERDELLTTLTSLEGTKALLEVQLQRAQGGTCLKACASSHSLCSNLSSTWSLS EFPSPLGGPEATGEAAVMGGPEPHNSEEATDSEKEINRLSILPFPPSAGSILRRQREEDP APPKRSFSSMSDITGSVTLKPWSPGLSSSSSSDSVWPLGKPEGLLARGCGLDFLNRSLAI RVSGRSPPGGPEPQDKGPDGLSFYGDRWSGAVVRRVLSGPGSARMEPREQRVEAAGLEGA CLEAEAQQRTLLWNQGSTLPSLMDSKACQSFHEALEAWAKGPGAEPFYIRANLTLPERAD PHALCVKAQEILRLVDSAYKRRQEWFCTRVDPLTLRDLDRGTVPNYQRAQQLLEVQEKCL PSSRHRGPRSNLKKRALDQLRLVRPKPVGAPAGDSPDQLLLEPCAEPERSLRPYSLVRPL LVSALRPVVLLPECLAPRLIRNLLDLPSSRLDFQVCPAESLSGEELCPSSAPGAPKAQPA TPGLGSRIRAIQESVGKKHCLLELGARGVRELVQNEIYPIVIHVEVTEKNVREVRGLLGR PGWRDSELLRQCRGSEQVLWGLPCSWVQVPAHEWGHAEELAKVVRGRILQEQARLVWVEC GSSRGCPSSSEA
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| Sequence length |
1032 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Immunodeficiency 89 and autoimmunity |
Pathogenic |
rs748488870 |
RCV001787025 |
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| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| CARD10-related disorder |
Uncertain significance; Benign; Likely benign |
rs200553561, rs2517793087, rs9610775, rs3817806, rs145143750, rs79861380, rs61742320, rs60611523, rs141880624, rs150575230, rs374177056, rs3817803, rs151290630, rs143997223, rs377009692, rs371884305, rs148648878, rs201385412, rs576345404, rs370693557, rs200266181, rs7287804, rs56014332, rs3817805, rs777106332, rs3817802, rs61746683, rs9619680, rs55875977, rs61752257 View all (15 more) |
RCV003923967 RCV003983331 RCV003984659 RCV003984784 RCV003916982 RCV003973840 RCV003973973 RCV003982305 RCV003909658 RCV003961692 RCV003947361 RCV003981249 RCV003927215 RCV003937032 RCV003937221 RCV003959178 RCV003954777 RCV003942274 RCV003946816 RCV003971813 RCV003963829 RCV003976590 RCV003972266 RCV003978937 RCV003978940 RCV003969013 RCV003981339 RCV003915966 RCV003972950 RCV003910532 RCV003930583 |
| Cervical cancer |
risk factor; Benign |
rs139006752, rs61742320 |
RCV005893846 RCV005935535 |
| Clear cell carcinoma of kidney |
Benign |
rs150575230 |
RCV005933349 |
| Colon adenocarcinoma |
risk factor; Benign |
rs139006752, rs150575230 |
RCV005893844 RCV005933348 |
| Familial cancer of breast |
Uncertain significance |
rs201423754 |
RCV005932442 |
| Gastric cancer |
Benign |
rs61742320 |
RCV005935537 |
| Hepatocellular carcinoma |
risk factor |
rs139006752 |
RCV005893845 |
| Lung cancer |
risk factor; Benign |
rs139006752, rs150575230 |
RCV005893848 RCV005933353 |
| Malignant tumor of esophagus |
Benign |
rs61742320 |
RCV005935534 |
| Melanoma |
Benign |
rs61742320, rs150575230 |
RCV005935540 RCV005933352 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs61742320 |
RCV005935538 |
| Primary open angle glaucoma |
risk factor |
rs201794655, rs750643216, rs200148764, rs139006752, rs1057519378 |
RCV000416608 RCV000416606 RCV000416610 RCV000416609 RCV000416607 |
| Sarcoma |
Benign |
rs61742320, rs150575230 |
RCV005935536 RCV005933350 |
| Thymoma |
risk factor; Benign |
rs139006752, rs61742320 |
RCV005893847 RCV005935539 |
| Thyroid cancer, nonmedullary, 1 |
Uncertain significance; Benign |
rs201423754, rs150575230 |
RCV005932443 RCV005933351 |
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| Disease Name |
Relationship Type |
References |
| Aortic Aneurysm Abdominal |
Associate |
32138469 |
| Breast Neoplasms |
Stimulate |
23708960 |
| Breast Neoplasms |
Associate |
31409895 |
| Carcinogenesis |
Associate |
23771851, 24018495 |
| Carcinogenesis |
Stimulate |
31576094 |
| Carcinoma Hepatocellular |
Stimulate |
24018495 |
| Carcinoma Hepatocellular |
Associate |
31576094 |
| Carcinoma Non Small Cell Lung |
Associate |
22615840, 26526492 |
| Carcinoma Ovarian Epithelial |
Associate |
24833094 |
| Carcinoma Renal Cell |
Associate |
23771851, 31939627, 34190011 |
| Glaucoma |
Associate |
29049738, 38241218 |
| Glaucoma Open Angle |
Associate |
25798827 |
| Glioma |
Associate |
23893382 |
| Inflammation |
Associate |
32138469 |
| Influenza Human |
Associate |
35893690 |
| Lung Neoplasms |
Associate |
22615840, 26526492 |
| Mouth Neoplasms |
Associate |
20695076 |
| Neoplasm Metastasis |
Associate |
23771851 |
| Neoplasms |
Associate |
22615840, 23771851, 23893382, 23922791, 24443255, 24633921, 31576094, 31939627, 34190011 |
| Neoplasms |
Stimulate |
24833094 |
| Ovarian Neoplasms |
Associate |
17724468, 24833094 |
| Pancreatic Neoplasms |
Stimulate |
24633921 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
20695076 |
| Urinary Bladder Neoplasms |
Associate |
24443255 |
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