Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ehrlich tumor carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:34605108 | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ehrlich tumor carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:34605108 | |
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12975309 | PMID:16139472 | PMID:20379614 | PMID:21873635 | PMID:23358633 | PMID:28659570 |
CEACAM20 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ceacam20 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ceacam20 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ceacam20 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CEACAM20 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CEACAM20 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ceacam20 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CEACAM20 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CEACAM20 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ceacam20 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in CEACAM20
25 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 | copy number gain | See cases [RCV000133888] | Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 | copy number loss | See cases [RCV000240182] | Chr19:43013365..47241534 [GRCh37] Chr19:19q13.2-13.32 |
pathogenic |
GRCh37/hg19 19q13.31(chr19:44466919-45029206)x1 | copy number loss | Breast ductal adenocarcinoma [RCV000207290] | Chr19:44466919..45029206 [GRCh37] Chr19:19q13.31 |
uncertain significance |
chr19:44501518-45322744 complex variant | complex | Breast ductal adenocarcinoma [RCV000207162] | Chr19:44501518..45322744 [GRCh37] Chr19:19q13.31-13.32 |
uncertain significance |
GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1 | copy number loss | See cases [RCV000512107] | Chr19:44300416..45639540 [GRCh37] Chr19:19q13.31-13.32 |
uncertain significance |
NM_001102597.3(CEACAM20):c.112C>G (p.Pro38Ala) | single nucleotide variant | Inborn genetic diseases [RCV003254990] | Chr19:44525185 [GRCh38] Chr19:45029218 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.545G>T (p.Gly182Val) | single nucleotide variant | Inborn genetic diseases [RCV003273963] | Chr19:44522840 [GRCh38] Chr19:45026869 [GRCh37] Chr19:19q13.31 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 | copy number gain | not provided [RCV000845733] | Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
NM_001102597.3(CEACAM20):c.67G>A (p.Val23Ile) | single nucleotide variant | Inborn genetic diseases [RCV003240459] | Chr19:44525230 [GRCh38] Chr19:45029263 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.1526C>T (p.Pro509Leu) | single nucleotide variant | Inborn genetic diseases [RCV003272875] | Chr19:44512066 [GRCh38] Chr19:45016124 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.1718A>T (p.Asn573Ile) | single nucleotide variant | Inborn genetic diseases [RCV003292244] | Chr19:44511049 [GRCh38] Chr19:45015107 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.1000C>T (p.Arg334Trp) | single nucleotide variant | Inborn genetic diseases [RCV003274630] | Chr19:44520504 [GRCh38] Chr19:45024538 [GRCh37] Chr19:19q13.31 |
uncertain significance |
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 | copy number gain | not provided [RCV001007050] | Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42 |
pathogenic |
NC_000019.9:g.(?_44011002)_(45213778_?)dup | duplication | Ethylmalonic encephalopathy [RCV003116731] | Chr19:44011002..45213778 [GRCh37] Chr19:19q13.31-13.32 |
uncertain significance |
NM_001102597.3(CEACAM20):c.164C>T (p.Pro55Leu) | single nucleotide variant | Inborn genetic diseases [RCV002859902] | Chr19:44525133 [GRCh38] Chr19:45029166 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.395A>G (p.Asp132Gly) | single nucleotide variant | Inborn genetic diseases [RCV002823448] | Chr19:44524063 [GRCh38] Chr19:45028096 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.1060G>C (p.Glu354Gln) | single nucleotide variant | Inborn genetic diseases [RCV002661427] | Chr19:44517195 [GRCh38] Chr19:45021256 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.763A>G (p.Met255Val) | single nucleotide variant | Inborn genetic diseases [RCV002717516] | Chr19:44520741 [GRCh38] Chr19:45024775 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.337C>T (p.Arg113Cys) | single nucleotide variant | Inborn genetic diseases [RCV002702894] | Chr19:44524121 [GRCh38] Chr19:45028154 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.1003A>G (p.Ser335Gly) | single nucleotide variant | Inborn genetic diseases [RCV002936695] | Chr19:44520501 [GRCh38] Chr19:45024535 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.854T>C (p.Val285Ala) | single nucleotide variant | Inborn genetic diseases [RCV002668864] | Chr19:44520650 [GRCh38] Chr19:45024684 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.857A>G (p.Gln286Arg) | single nucleotide variant | Inborn genetic diseases [RCV002657541] | Chr19:44520647 [GRCh38] Chr19:45024681 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.427G>A (p.Ala143Thr) | single nucleotide variant | Inborn genetic diseases [RCV002655492] | Chr19:44524031 [GRCh38] Chr19:45028064 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.739G>T (p.Val247Phe) | single nucleotide variant | Inborn genetic diseases [RCV003190734] | Chr19:44522646 [GRCh38] Chr19:45026675 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.1234G>A (p.Gly412Arg) | single nucleotide variant | Inborn genetic diseases [RCV003357137] | Chr19:44517021 [GRCh38] Chr19:45021082 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.922A>T (p.Thr308Ser) | single nucleotide variant | Inborn genetic diseases [RCV003385424] | Chr19:44520582 [GRCh38] Chr19:45024616 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.38G>C (p.Gly13Ala) | single nucleotide variant | Inborn genetic diseases [RCV003370372] | Chr19:44529472 [GRCh38] Chr19:45033495 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.1157G>A (p.Arg386His) | single nucleotide variant | Inborn genetic diseases [RCV003350443] | Chr19:44517098 [GRCh38] Chr19:45021159 [GRCh37] Chr19:19q13.31 |
likely benign |
NM_001102597.3(CEACAM20):c.1586C>T (p.Pro529Leu) | single nucleotide variant | Inborn genetic diseases [RCV003354183] | Chr19:44511662 [GRCh38] Chr19:45015720 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001102597.3(CEACAM20):c.448G>A (p.Asp150Asn) | single nucleotide variant | Inborn genetic diseases [RCV003383780] | Chr19:44524010 [GRCh38] Chr19:45028043 [GRCh37] Chr19:19q13.31 |
uncertain significance |
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. |
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 | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 99 | 94 | 5 | 11 | 2 | |||||||||||
Low | 79 | 1 | 37 | 26 | 54 | 27 | 11 | 13 | 9 | 4 | 472 | 15 | 4 | 9 | ||
Below cutoff | 945 | 1097 | 978 | 278 | 419 | 216 | 2369 | 1057 | 1787 | 47 | 393 | 849 | 66 | 834 | 1562 | 1 |
RefSeq Acc Id: | ENST00000611497 ⟹ ENSP00000483912 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000614577 ⟹ ENSP00000482943 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000614924 ⟹ ENSP00000481937 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000617951 ⟹ ENSP00000483639 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000620096 ⟹ ENSP00000481812 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000621342 ⟹ ENSP00000480940 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001102597 ⟹ NP_001096067 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001102598 ⟹ NP_001096068 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001102599 ⟹ NP_001096069 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001102600 ⟹ NP_001096070 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011526429 ⟹ XP_011524731 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011526430 ⟹ XP_011524732 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011526431 ⟹ XP_011524733 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011526432 ⟹ XP_011524734 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_054319739 ⟹ XP_054175714 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054319740 ⟹ XP_054175715 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054319741 ⟹ XP_054175716 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054319742 ⟹ XP_054175717 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NP_001096067 ⟸ NM_001102597 |
- Peptide Label: | isoform 5L precursor |
- UniProtKB: | A7LFK9 (UniProtKB/Swiss-Prot), A7LFK8 (UniProtKB/Swiss-Prot), A0A087X155 (UniProtKB/Swiss-Prot), A0A087WZX4 (UniProtKB/Swiss-Prot), A0A087WYH6 (UniProtKB/Swiss-Prot), A0A087WXE1 (UniProtKB/Swiss-Prot), A7LFL0 (UniProtKB/Swiss-Prot), Q6UY09 (UniProtKB/Swiss-Prot), A0A087WYM6 (UniProtKB/TrEMBL), A7LFK7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001096068 ⟸ NM_001102598 |
- Peptide Label: | isoform 4S precursor |
- UniProtKB: | Q6UY09 (UniProtKB/Swiss-Prot), A0A087WYH6 (UniProtKB/TrEMBL), A7LFK7 (UniProtKB/TrEMBL), A7LFK8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001096069 ⟸ NM_001102599 |
- Peptide Label: | isoform 4L precursor |
- UniProtKB: | Q6UY09 (UniProtKB/Swiss-Prot), A0A087WZX4 (UniProtKB/TrEMBL), A7LFK7 (UniProtKB/TrEMBL), A7LFK9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001096070 ⟸ NM_001102600 |
- Peptide Label: | isoform 5S precursor |
- UniProtKB: | Q6UY09 (UniProtKB/Swiss-Prot), A0A087X155 (UniProtKB/TrEMBL), A7LFK7 (UniProtKB/TrEMBL), A7LFL0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011524732 ⟸ XM_011526430 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011524731 ⟸ XM_011526429 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011524734 ⟸ XM_011526432 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_011524733 ⟸ XM_011526431 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | ENSP00000481812 ⟸ ENST00000620096 |
RefSeq Acc Id: | ENSP00000480940 ⟸ ENST00000621342 |
RefSeq Acc Id: | ENSP00000483912 ⟸ ENST00000611497 |
RefSeq Acc Id: | ENSP00000482943 ⟸ ENST00000614577 |
RefSeq Acc Id: | ENSP00000481937 ⟸ ENST00000614924 |
RefSeq Acc Id: | ENSP00000483639 ⟸ ENST00000617951 |
RefSeq Acc Id: | XP_054175715 ⟸ XM_054319740 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054175714 ⟸ XM_054319739 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054175717 ⟸ XM_054319742 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054175716 ⟸ XM_054319741 |
- Peptide Label: | isoform X3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6UY09-F1-model_v2 | AlphaFold | Q6UY09 | 1-596 | view protein structure |
RGD ID: | 7240325 | ||||||||
Promoter ID: | EPDNEW_H25908 | ||||||||
Type: | initiation region | ||||||||
Name: | CEACAM20_1 | ||||||||
Description: | carcinoembryonic antigen related cell adhesion molecule 20 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:24879 | AgrOrtholog |
COSMIC | CEACAM20 | COSMIC |
Ensembl Genes | ENSG00000273777 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000611497 | ENTREZGENE |
ENST00000611497.4 | UniProtKB/Swiss-Prot | |
ENST00000614577 | ENTREZGENE | |
ENST00000614577.4 | UniProtKB/Swiss-Prot | |
ENST00000614924 | ENTREZGENE | |
ENST00000614924.5 | UniProtKB/Swiss-Prot | |
ENST00000620096 | ENTREZGENE | |
ENST00000620096.4 | UniProtKB/Swiss-Prot | |
ENST00000621342.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000273777 | GTEx |
HGNC ID | HGNC:24879 | ENTREZGENE |
Human Proteome Map | CEACAM20 | Human Proteome Map |
InterPro | Ig-like_dom | UniProtKB/Swiss-Prot |
Ig-like_dom_sf | UniProtKB/Swiss-Prot | |
Ig-like_fold | UniProtKB/Swiss-Prot | |
Ig_sub | UniProtKB/Swiss-Prot | |
Ig_sub2 | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:125931 | UniProtKB/Swiss-Prot |
NCBI Gene | 125931 | ENTREZGENE |
PANTHER | CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 19 | UniProtKB/Swiss-Prot |
CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 20 | UniProtKB/Swiss-Prot | |
Pfam | Ig_3 | UniProtKB/Swiss-Prot |
PharmGKB | PA142672134 | PharmGKB |
PROSITE | IG_LIKE | UniProtKB/Swiss-Prot |
SMART | IGc2 | UniProtKB/Swiss-Prot |
SM00409 | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot |
UniProt | A0A087WXE1 | ENTREZGENE |
A0A087WYH6 | ENTREZGENE | |
A0A087WYM6 | ENTREZGENE | |
A0A087WZX4 | ENTREZGENE | |
A0A087X155 | ENTREZGENE | |
A7LFK7 | ENTREZGENE | |
A7LFK8 | ENTREZGENE | |
A7LFK9 | ENTREZGENE | |
A7LFL0 | ENTREZGENE | |
CEA20_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | A0A087WXE1 | UniProtKB/Swiss-Prot |
A0A087WYH6 | UniProtKB/Swiss-Prot | |
A0A087WYM6 | UniProtKB/Swiss-Prot | |
A0A087WZX4 | UniProtKB/Swiss-Prot | |
A0A087X155 | UniProtKB/Swiss-Prot | |
A7LFK7 | UniProtKB/Swiss-Prot | |
A7LFK8 | UniProtKB/Swiss-Prot | |
A7LFK9 | UniProtKB/Swiss-Prot | |
A7LFL0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-08-27 | CEACAM20 | CEA cell adhesion molecule 20 | CEACAM20 | carcinoembryonic antigen related cell adhesion molecule 20 | Symbol and/or name change | 5135510 | APPROVED |
2016-01-19 | CEACAM20 | carcinoembryonic antigen related cell adhesion molecule 20 | carcinoembryonic antigen-related cell adhesion molecule 20 | Symbol and/or name change | 5135510 | APPROVED |