Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CADM3 | Human | Charcot-Marie-Tooth Disease Axonal Type 2FF | | IAGP | | 7240710 | | OMIM | | |
|
Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CADM3 | Human | Charcot-Marie-Tooth Disease Axonal Type 2FF | | IAGP | | 7240710 | | OMIM | | |
|
|
|
|
|
|
|
|
|
|
|
|
# | 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:11536053 | PMID:11544254 | PMID:12477932 | PMID:12826663 | PMID:12975309 | PMID:14659875 | PMID:14702039 | PMID:15340161 | PMID:15741237 | PMID:15893517 | PMID:16344560 | PMID:16467305 |
PMID:16710414 | PMID:17903293 | PMID:18420026 | PMID:18502984 | PMID:18686605 | PMID:19062177 | PMID:19165527 | PMID:19565570 | PMID:20078932 | PMID:20237496 | PMID:20598232 | PMID:21325282 |
PMID:21873635 | PMID:22291609 | PMID:22360420 | PMID:24112238 | PMID:29180619 | PMID:29808799 | PMID:32296183 | PMID:33889941 | PMID:38515057 |
CADM3 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cadm3 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cadm3 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cadm3 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CADM3 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CADM3 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cadm3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CADM3 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CADM3 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cadm3 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in CADM3
33 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 | copy number gain | See cases [RCV000051854] | Chr1:157747246..176021247 [GRCh38] Chr1:157717036..175990383 [GRCh37] Chr1:155983660..174257006 [NCBI36] Chr1:1q23.1-25.1 |
pathogenic |
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] | Chr1:156664483..160727411 [GRCh38] Chr1:156634275..160697201 [GRCh37] Chr1:154900899..158963825 [NCBI36] Chr1:1q23.1-23.3 |
pathogenic |
NM_001127173.1(CADM3):c.92G>A (p.Ser31Asn) | single nucleotide variant | Malignant melanoma [RCV000064242] | Chr1:159191939 [GRCh38] Chr1:159161729 [GRCh37] Chr1:157428353 [NCBI36] Chr1:1q23.2 |
not provided |
NM_001127173.3(CADM3):c.382G>C (p.Gly128Arg) | single nucleotide variant | Malignant tumor of prostate [RCV000149284] | Chr1:159192730 [GRCh38] Chr1:159162520 [GRCh37] Chr1:1q23.2 |
uncertain significance |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 | copy number gain | See cases [RCV000143515] | Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
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_001127173.3(CADM3):c.427C>T (p.Arg143Trp) | single nucleotide variant | Inborn genetic diseases [RCV003257698] | Chr1:159193467 [GRCh38] Chr1:159163257 [GRCh37] Chr1:1q23.2 |
uncertain significance |
GRCh37/hg19 1q23.1-23.2(chr1:158685035-159301350)x3 | copy number gain | See cases [RCV000512504] | Chr1:158685035..159301350 [GRCh37] Chr1:1q23.1-23.2 |
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_001127173.3(CADM3):c.418T>C (p.Ser140Pro) | single nucleotide variant | Inborn genetic diseases [RCV003268079] | Chr1:159193458 [GRCh38] Chr1:159163248 [GRCh37] Chr1:1q23.2 |
uncertain significance |
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 | copy number loss | not provided [RCV000848773] | Chr1:157321299..167391423 [GRCh37] Chr1:1q23.1-24.2 |
pathogenic |
NM_001127173.3(CADM3):c.413A>G (p.Tyr138Cys) | single nucleotide variant | Charcot-Marie-Tooth disease, axonal, type 2FF [RCV001678582]|not provided [RCV004728783] | Chr1:159193453 [GRCh38] Chr1:159163243 [GRCh37] Chr1:1q23.2 |
pathogenic|likely pathogenic |
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 1q23.1-23.2(chr1:158822741-159244974)x3 | copy number gain | not provided [RCV001833015] | Chr1:158822741..159244974 [GRCh37] Chr1:1q23.1-23.2 |
uncertain significance |
NC_000001.10:g.(?_158581054)_(162750036_?)dup | duplication | Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] | Chr1:158581054..162750036 [GRCh37] Chr1:1q23.1-23.3 |
uncertain significance|no classifications from unflagged records |
NM_001127173.3(CADM3):c.383del | deletion | Charcot-Marie-Tooth disease, axonal, type 2FF [RCV002294597] | Chr1:159193422 [GRCh38] Chr1:159163212 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.1000G>T (p.Gly334Cys) | single nucleotide variant | Charcot-Marie-Tooth disease, axonal, type 2FF [RCV002291124] | Chr1:159199798 [GRCh38] Chr1:159169588 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.260C>T (p.Thr87Ile) | single nucleotide variant | Inborn genetic diseases [RCV002778799] | Chr1:159192608 [GRCh38] Chr1:159162398 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.136G>A (p.Val46Met) | single nucleotide variant | Inborn genetic diseases [RCV002739547] | Chr1:159191983 [GRCh38] Chr1:159161773 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.523G>A (p.Glu175Lys) | single nucleotide variant | Inborn genetic diseases [RCV002696448] | Chr1:159193872 [GRCh38] Chr1:159163662 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.720C>A (p.Asp240Glu) | single nucleotide variant | Inborn genetic diseases [RCV002641967] | Chr1:159196392 [GRCh38] Chr1:159166182 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.622G>A (p.Val208Met) | single nucleotide variant | Inborn genetic diseases [RCV002652022] | Chr1:159193971 [GRCh38] Chr1:159163761 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.467G>A (p.Gly156Glu) | single nucleotide variant | Inborn genetic diseases [RCV003257602] | Chr1:159193507 [GRCh38] Chr1:159163297 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.991G>A (p.Ala331Thr) | single nucleotide variant | Inborn genetic diseases [RCV003195803] | Chr1:159199789 [GRCh38] Chr1:159169579 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.266C>T (p.Thr89Met) | single nucleotide variant | Inborn genetic diseases [RCV003178914] | Chr1:159192614 [GRCh38] Chr1:159162404 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.98C>T (p.Pro33Leu) | single nucleotide variant | Inborn genetic diseases [RCV003219924] | Chr1:159191945 [GRCh38] Chr1:159161735 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.729T>A (p.His243Gln) | single nucleotide variant | Inborn genetic diseases [RCV003206143] | Chr1:159196401 [GRCh38] Chr1:159166191 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.1061A>G (p.Tyr354Cys) | single nucleotide variant | Charcot-Marie-Tooth disease, axonal, type 2FF [RCV003143950]|not provided [RCV004697271] | Chr1:159199859 [GRCh38] Chr1:159169649 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.1093C>A (p.His365Asn) | single nucleotide variant | Inborn genetic diseases [RCV003188514] | Chr1:159200818 [GRCh38] Chr1:159170608 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.595A>G (p.Thr199Ala) | single nucleotide variant | Inborn genetic diseases [RCV003360080] | Chr1:159193944 [GRCh38] Chr1:159163734 [GRCh37] Chr1:1q23.2 |
uncertain significance |
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 | copy number loss | not provided [RCV003483944] | Chr1:158001058..162858285 [GRCh37] Chr1:1q23.1-23.3 |
likely pathogenic |
NM_001127173.3(CADM3):c.195T>G (p.Pro65=) | single nucleotide variant | not provided [RCV003409177] | Chr1:159192042 [GRCh38] Chr1:159161832 [GRCh37] Chr1:1q23.2 |
likely benign |
NM_001127173.3(CADM3):c.73A>C (p.Asn25His) | single nucleotide variant | Inborn genetic diseases [RCV004434437] | Chr1:159171838 [GRCh38] Chr1:159141628 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.734G>A (p.Arg245His) | single nucleotide variant | Inborn genetic diseases [RCV004434438] | Chr1:159196406 [GRCh38] Chr1:159166196 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.1127C>T (p.Ala376Val) | single nucleotide variant | Inborn genetic diseases [RCV004434431] | Chr1:159200852 [GRCh38] Chr1:159170642 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.50G>A (p.Cys17Tyr) | single nucleotide variant | Inborn genetic diseases [RCV004434435] | Chr1:159171815 [GRCh38] Chr1:159141605 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.370G>A (p.Val124Ile) | single nucleotide variant | Inborn genetic diseases [RCV004434434] | Chr1:159192718 [GRCh38] Chr1:159162508 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.100T>C (p.Trp34Arg) | single nucleotide variant | Inborn genetic diseases [RCV004434432] | Chr1:159191947 [GRCh38] Chr1:159161737 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.160G>A (p.Asp54Asn) | single nucleotide variant | Inborn genetic diseases [RCV004434433] | Chr1:159192007 [GRCh38] Chr1:159161797 [GRCh37] Chr1:1q23.2 |
uncertain significance |
GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3 | copy number gain | not provided [RCV004577444] | Chr1:155709113..159191078 [GRCh37] Chr1:1q22-23.2 |
likely pathogenic |
NM_001127173.3(CADM3):c.619A>G (p.Ile207Val) | single nucleotide variant | Inborn genetic diseases [RCV004434436] | Chr1:159193968 [GRCh38] Chr1:159163758 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_001127173.3(CADM3):c.1045A>C (p.Ile349Leu) | single nucleotide variant | Inborn genetic diseases [RCV004606355] | Chr1:159199843 [GRCh38] Chr1:159169633 [GRCh37] Chr1:1q23.2 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D1S2635 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D1S3501 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH12336 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
A001Y21 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
STS-T65055 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH11558 |
|
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 | 2312 | 2787 | 2232 | 4927 | 1650 | 2169 | 4 | 561 | 1623 | 400 | 2240 | 6773 | 6139 | 23 | 3713 | 1 | 784 | 1658 | 1503 | 168 | 1 |
RefSeq Transcripts | NG_051933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001127173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001346510 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_021189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024448760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF062733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF363367 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF529206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK001560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK289541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK308915 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL035403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY046418 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY358332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663416 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663417 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663418 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663419 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663422 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663423 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663424 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663426 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663427 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663428 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663429 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663431 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY663433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC033819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CS019555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CS019557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA221489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181553 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181556 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181558 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181561 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181563 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181566 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181567 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HC206628 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HC206630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY346099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000368124 ⟹ ENSP00000357106 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000368125 ⟹ ENSP00000357107 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000416746 ⟹ ENSP00000387802 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001127173 ⟹ NP_001120645 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001346510 ⟹ NP_001333439 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_021189 ⟹ NP_067012 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_024448760 ⟹ XP_024304528 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_054337944 ⟹ XP_054193919 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001120645 | (Get FASTA) | NCBI Sequence Viewer |
NP_001333439 | (Get FASTA) | NCBI Sequence Viewer | |
NP_067012 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024304528 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193919 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD17540 | (Get FASTA) | NCBI Sequence Viewer |
AAH33819 | (Get FASTA) | NCBI Sequence Viewer | |
AAL02143 | (Get FASTA) | NCBI Sequence Viewer | |
AAM60749 | (Get FASTA) | NCBI Sequence Viewer | |
AAN75603 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ88698 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47274 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47277 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47280 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47283 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47286 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47289 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47292 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47295 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47298 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47301 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47304 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47307 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47310 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47313 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47316 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47319 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47322 | (Get FASTA) | NCBI Sequence Viewer | |
AAU47325 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10402 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10405 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10408 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10411 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10414 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10417 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10420 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10423 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10426 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10429 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10432 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10435 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10438 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10441 | (Get FASTA) | NCBI Sequence Viewer | |
ABA10444 | (Get FASTA) | NCBI Sequence Viewer | |
BAA91756 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82230 | (Get FASTA) | NCBI Sequence Viewer | |
CAI58844 | (Get FASTA) | NCBI Sequence Viewer | |
CAI58845 | (Get FASTA) | NCBI Sequence Viewer | |
CBI85482 | (Get FASTA) | NCBI Sequence Viewer | |
CBI85483 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52792 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52793 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52794 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000357106 | ||
ENSP00000357106.4 | |||
ENSP00000357107 | |||
ENSP00000357107.4 | |||
ENSP00000387802.1 | |||
GenBank Protein | Q8N126 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_067012 ⟸ NM_021189 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q8N126 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001120645 ⟸ NM_001127173 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | Q9NVJ5 (UniProtKB/Swiss-Prot), Q8IZQ9 (UniProtKB/Swiss-Prot), Q9UJP1 (UniProtKB/Swiss-Prot), Q8N126 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_024304528 ⟸ XM_024448760 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | NP_001333439 ⟸ NM_001346510 |
- Peptide Label: | isoform 3 precursor |
- UniProtKB: | Q8N126 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000387802 ⟸ ENST00000416746 |
Ensembl Acc Id: | ENSP00000357107 ⟸ ENST00000368125 |
Ensembl Acc Id: | ENSP00000357106 ⟸ ENST00000368124 |
RefSeq Acc Id: | XP_054193919 ⟸ XM_054337944 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8N126-F1-model_v2 | AlphaFold | Q8N126 | 1-398 | view protein structure |
RGD ID: | 6809517 | ||||||||
Promoter ID: | HG_ACW:4400 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | CADM3ANDDARC.HAPR07, CADM3ANDDARC.KAPR07 | ||||||||
Position: |
|
RGD ID: | 6857774 | ||||||||
Promoter ID: | EPDNEW_H2020 | ||||||||
Type: | initiation region | ||||||||
Name: | CADM3_1 | ||||||||
Description: | cell adhesion molecule 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2021 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6857712 | ||||||||
Promoter ID: | EPDNEW_H2021 | ||||||||
Type: | initiation region | ||||||||
Name: | CADM3_2 | ||||||||
Description: | cell adhesion molecule 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2020 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:17601 | AgrOrtholog |
COSMIC | CADM3 | COSMIC |
Ensembl Genes | ENSG00000162706 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000368124 | ENTREZGENE |
ENST00000368124.8 | UniProtKB/Swiss-Prot | |
ENST00000368125 | ENTREZGENE | |
ENST00000368125.9 | UniProtKB/Swiss-Prot | |
ENST00000416746.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000162706 | GTEx |
HGNC ID | HGNC:17601 | ENTREZGENE |
Human Proteome Map | CADM3 | Human Proteome Map |
InterPro | CD80_C2-set | UniProtKB/Swiss-Prot |
Ig-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub2 | UniProtKB/Swiss-Prot | |
Ig_V-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neurexin-like | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:57863 | UniProtKB/Swiss-Prot |
NCBI Gene | 57863 | ENTREZGENE |
OMIM | 609743 | OMIM |
PANTHER | CELL ADHESION MOLECULE 3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IG-LIKE DOMAIN-CONTAINING PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | C2-set_2 | UniProtKB/Swiss-Prot |
Ig_2 | UniProtKB/TrEMBL | |
Ig_3 | UniProtKB/Swiss-Prot | |
V-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA162380906 | PharmGKB |
PROSITE | IG_LIKE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | 4.1m | UniProtKB/Swiss-Prot |
IGc2 | UniProtKB/Swiss-Prot | |
SM00409 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0C4DG09_HUMAN | UniProtKB/TrEMBL |
CADM3_HUMAN | UniProtKB/Swiss-Prot | |
Q8IZQ9 | ENTREZGENE | |
Q8N126 | ENTREZGENE | |
Q9NVJ5 | ENTREZGENE | |
Q9UJP1 | ENTREZGENE | |
UniProt Secondary | Q8IZQ9 | UniProtKB/Swiss-Prot |
Q9NVJ5 | UniProtKB/Swiss-Prot | |
Q9UJP1 | UniProtKB/Swiss-Prot |