CRTAM (cytotoxic and regulatory T cell molecule) - Rat Genome Database

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Gene: CRTAM (cytotoxic and regulatory T cell molecule) Homo sapiens
Analyze
Symbol: CRTAM
Name: cytotoxic and regulatory T cell molecule
RGD ID: 1606263
HGNC Page HGNC
Description: Enables identical protein binding activity and signaling receptor binding activity. Involved in several processes, including cell recognition; detection of tumor cell; and positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CD355; class I MHC restricted T cell associated molecule; class-I MHC-restricted T cell associated molecule; class-I MHC-restricted T-cell-associated molecule; cytotoxic and regulatory T-cell molecule
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11122,838,500 - 122,872,643 (+)EnsemblGRCh38hg38GRCh38
GRCh3811122,838,419 - 122,872,643 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711122,709,208 - 122,743,351 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611122,214,465 - 122,248,557 (+)NCBINCBI36hg18NCBI36
Celera11119,868,568 - 119,902,622 (+)NCBI
Cytogenetic Map11q24.1NCBI
HuRef11118,652,105 - 118,686,168 (+)NCBIHuRef
CHM1_111122,595,116 - 122,629,182 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Dwarfism  (IAGP)
schizophrenia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:10811014   PMID:12477932   PMID:15781451   PMID:15811952   PMID:16300832   PMID:17207965   PMID:18329370   PMID:19695707   PMID:20556794   PMID:21873635   PMID:22051697   PMID:23530148  
PMID:23827383   PMID:23871486   PMID:25910959   PMID:26694968   PMID:30791148   PMID:32300914  


Genomics

Comparative Map Data
CRTAM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11122,838,500 - 122,872,643 (+)EnsemblGRCh38hg38GRCh38
GRCh3811122,838,419 - 122,872,643 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711122,709,208 - 122,743,351 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611122,214,465 - 122,248,557 (+)NCBINCBI36hg18NCBI36
Celera11119,868,568 - 119,902,622 (+)NCBI
Cytogenetic Map11q24.1NCBI
HuRef11118,652,105 - 118,686,168 (+)NCBIHuRef
CHM1_111122,595,116 - 122,629,182 (+)NCBICHM1_1
Crtam
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39940,884,094 - 40,915,924 (-)NCBIGRCm39mm39
GRCm39 Ensembl940,880,987 - 40,915,924 (-)Ensembl
GRCm38940,972,798 - 41,004,628 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl940,969,691 - 41,004,628 (-)EnsemblGRCm38mm10GRCm38
MGSCv37940,780,881 - 40,812,669 (-)NCBIGRCm37mm9NCBIm37
MGSCv36940,723,867 - 40,755,655 (-)NCBImm8
Celera938,200,659 - 38,232,057 (-)NCBICelera
Cytogenetic Map9A5.1NCBI
cM Map921.79NCBI
Crtam
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2841,340,117 - 41,377,343 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl841,340,837 - 41,377,343 (-)Ensembl
Rnor_6.0845,152,584 - 45,216,082 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl845,153,308 - 45,215,974 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0843,681,605 - 43,694,465 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0843,634,852 - 43,653,181 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4843,943,971 - 43,981,609 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1843,953,456 - 43,984,145 (-)NCBI
Celera840,939,600 - 40,975,292 (-)NCBICelera
Cytogenetic Map8q22NCBI
Crtam
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541223,675,906 - 23,709,262 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541223,676,171 - 23,706,250 (+)NCBIChiLan1.0ChiLan1.0
CRTAM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111121,591,738 - 121,625,744 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11121,591,738 - 121,625,738 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011117,671,581 - 117,705,818 (+)NCBIMhudiblu_PPA_v0panPan3
CRTAM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1511,458,360 - 11,485,469 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl511,458,008 - 11,485,448 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha511,513,935 - 11,544,437 (-)NCBI
ROS_Cfam_1.0511,408,765 - 11,439,292 (-)NCBI
UMICH_Zoey_3.1511,512,278 - 11,542,814 (-)NCBI
UNSW_CanFamBas_1.0511,451,291 - 11,481,815 (-)NCBI
UU_Cfam_GSD_1.0511,489,452 - 11,520,016 (-)NCBI
Crtam
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947104,481,329 - 104,490,360 (+)NCBI
SpeTri2.0NW_0049365427,402,879 - 7,411,510 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CRTAM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl949,783,731 - 49,811,313 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1949,782,166 - 49,811,314 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2955,129,405 - 55,156,171 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CRTAM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11114,233,767 - 114,265,780 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1114,234,357 - 114,265,994 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604311,860,131 - 11,886,947 (-)NCBIVero_WHO_p1.0
Crtam
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248802,229,201 - 2,240,068 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D11S4402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711122,710,792 - 122,710,991UniSTSGRCh37
Build 3611122,216,002 - 122,216,201RGDNCBI36
Celera11119,870,105 - 119,870,304RGD
Cytogenetic Map11q24.1UniSTS
HuRef11118,653,646 - 118,653,845UniSTS
Whitehead-RH Map11566.9UniSTS
Whitehead-YAC Contig Map11 UniSTS
L77857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711122,708,826 - 122,708,966UniSTSGRCh37
Build 3611122,214,036 - 122,214,176RGDNCBI36
Celera11119,868,139 - 119,868,279RGD
Cytogenetic Map11q24.1UniSTS
HuRef11118,651,676 - 118,651,816UniSTS
CRTAM_4640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711122,742,531 - 122,743,385UniSTSGRCh37
Build 3611122,247,741 - 122,248,595RGDNCBI36
Celera11119,901,806 - 119,902,660RGD
HuRef11118,685,352 - 118,686,206UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1254
Count of miRNA genes:469
Interacting mature miRNAs:509
Transcripts:ENST00000227348, ENST00000533416, ENST00000533709
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 1 60 5 128 2 470 3 11 5
Low 314 881 318 149 1166 115 753 34 652 139 317 841 34 409 492 1
Below cutoff 1876 1791 1322 443 460 320 3158 1718 2453 219 1011 667 132 772 2023 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000227348   ⟹   ENSP00000227348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11122,838,500 - 122,872,643 (+)Ensembl
RefSeq Acc Id: ENST00000533416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11122,864,591 - 122,871,497 (+)Ensembl
RefSeq Acc Id: ENST00000533709   ⟹   ENSP00000433728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11122,862,303 - 122,872,637 (+)Ensembl
RefSeq Acc Id: NM_001304782   ⟹   NP_001291711
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811122,862,331 - 122,872,643 (+)NCBI
CHM1_111122,618,857 - 122,629,182 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019604   ⟹   NP_062550
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811122,838,500 - 122,872,643 (+)NCBI
GRCh3711122,709,255 - 122,743,347 (+)RGD
Build 3611122,214,465 - 122,248,557 (+)NCBI Archive
Celera11119,868,568 - 119,902,622 (+)RGD
HuRef11118,652,105 - 118,686,168 (+)ENTREZGENE
CHM1_111122,595,067 - 122,629,182 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542900   ⟹   XP_011541202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811122,838,419 - 122,872,643 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_062550   ⟸   NM_019604
- Peptide Label: isoform 1 precursor
- UniProtKB: O95727 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291711   ⟸   NM_001304782
- Peptide Label: isoform 2 precursor
- UniProtKB: O95727 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011541202   ⟸   XM_011542900
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000227348   ⟸   ENST00000227348
RefSeq Acc Id: ENSP00000433728   ⟸   ENST00000533709
Protein Domains
Ig-like C2-type   Ig-like V-type

Promoters
RGD ID:7222467
Promoter ID:EPDNEW_H16979
Type:multiple initiation site
Name:CRTAM_1
Description:cytotoxic and regulatory T-cell molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811122,838,500 - 122,838,560EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25
pathogenic
NM_019604.3(CRTAM):c.*269G>A single nucleotide variant Lung cancer [RCV000109694] Chr11:122871668 [GRCh38]
Chr11:122742376 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1 copy number loss See cases [RCV000134405] Chr11:120426093..124771213 [GRCh38]
Chr11:120296802..124641109 [GRCh37]
Chr11:119802012..124146319 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1 copy number loss See cases [RCV000136594] Chr11:122182443..125957977 [GRCh38]
Chr11:122053151..125827872 [GRCh37]
Chr11:121558361..125333082 [NCBI36]
Chr11:11q24.1-24.2
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
Single allele deletion Gestational diabetes mellitus uncontrolled [RCV000161656] Chr11:122815420..122878506 [GRCh38]
Chr11:122686128..122749214 [GRCh37]
Chr11:11q24.1
not provided
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_019604.4(CRTAM):c.758C>T (p.Thr253Ile) single nucleotide variant not provided [RCV000965875] Chr11:122864660 [GRCh38]
Chr11:122735368 [GRCh37]
Chr11:11q24.1
benign
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_019604.4(CRTAM):c.47A>C (p.Glu16Ala) single nucleotide variant not provided [RCV000962447] Chr11:122850068 [GRCh38]
Chr11:122720776 [GRCh37]
Chr11:11q24.1
benign
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_019604.4(CRTAM):c.518A>G (p.Asp173Gly) single nucleotide variant not provided [RCV000959237] Chr11:122855722 [GRCh38]
Chr11:122726430 [GRCh37]
Chr11:11q24.1
benign
NM_019604.4(CRTAM):c.233C>A (p.Ala78Asp) single nucleotide variant not provided [RCV000957022] Chr11:122851732 [GRCh38]
Chr11:122722440 [GRCh37]
Chr11:11q24.1
benign
NM_019604.4(CRTAM):c.441G>A (p.Lys147=) single nucleotide variant not provided [RCV000957023] Chr11:122854037 [GRCh38]
Chr11:122724745 [GRCh37]
Chr11:11q24.1
benign
NM_019604.4(CRTAM):c.579G>A (p.Thr193=) single nucleotide variant not provided [RCV000957024] Chr11:122855783 [GRCh38]
Chr11:122726491 [GRCh37]
Chr11:11q24.1
benign
GRCh37/hg19 11q24.1(chr11:122572827-122781694)x3 copy number gain not provided [RCV001006453] Chr11:122572827..122781694 [GRCh37]
Chr11:11q24.1
uncertain significance
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24313 AgrOrtholog
COSMIC CRTAM COSMIC
Ensembl Genes ENSG00000109943 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000227348 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433728 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000227348 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000533709 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000109943 GTEx
HGNC ID HGNC:24313 ENTREZGENE
Human Proteome Map CRTAM Human Proteome Map
InterPro CD80_C2-set UniProtKB/Swiss-Prot
  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_V-set UniProtKB/Swiss-Prot
KEGG Report hsa:56253 UniProtKB/Swiss-Prot
NCBI Gene 56253 ENTREZGENE
OMIM 612597 OMIM
Pfam C2-set_2 UniProtKB/Swiss-Prot
  V-set UniProtKB/Swiss-Prot
PharmGKB PA145149072 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
SMART SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt CRTAM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q59EI1 UniProtKB/Swiss-Prot
  Q6IRX2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-12-19 CRTAM  cytotoxic and regulatory T cell molecule    cytotoxic and regulatory T-cell molecule  Symbol and/or name change 5135510 APPROVED
2016-02-18 CRTAM  cytotoxic and regulatory T-cell molecule    cytotoxic and regulatory T cell molecule  Symbol and/or name change 5135510 APPROVED
2011-09-01 CRTAM  cytotoxic and regulatory T cell molecule  CRTAM  cytotoxic and regulatory T cell molecule  Symbol and/or name change 5135510 APPROVED