CD72 (CD72 molecule) - Rat Genome Database
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Gene: CD72 (CD72 molecule) Homo sapiens
Analyze
Symbol: CD72
Name: CD72 molecule
RGD ID: 1320264
Description: Predicted to have signaling receptor binding activity. Predicted to be involved in cell adhesion. Localizes to integral component of plasma membrane; PARTICIPATES IN B cell receptor signaling pathway; INTERACTS WITH antirheumatic drug; arsane; arsenic atom.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: B-cell differentiation antigen CD72; CD72 antigen; CD72b; lyb-2; LYB2
Orthologs:
Mus musculus (house mouse) : Cd72 (CD72 antigen)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cd72 (Cd72 molecule)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cd72 (CD72 molecule)
Pan paniscus (bonobo/pygmy chimpanzee) : CD72 (CD72 molecule)
Canis lupus familiaris (dog) : CD72 (CD72 molecule)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cd72 (CD72 molecule)
Sus scrofa (pig) : CD72 (CD72 molecule)
Chlorocebus sabaeus (African green monkey) : CD72 (CD72 molecule)
Heterocephalus glaber (naked mole-rat) : Cd72 (CD72 molecule)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,609,979 - 35,646,810 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl935,609,533 - 35,646,810 (-)EnsemblGRCh38hg38GRCh38
GRCh38935,609,981 - 35,618,427 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,609,976 - 35,618,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,599,976 - 35,608,408 (-)NCBINCBI36hg18NCBI36
Build 34935,599,975 - 35,608,408NCBI
Celera935,543,537 - 35,551,985 (-)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,565,670 - 35,574,101 (-)NCBIHuRef
CHM1_1935,609,802 - 35,618,250 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1711157   PMID:2044654   PMID:2141045   PMID:8806810   PMID:9110174   PMID:9590210   PMID:9740800   PMID:10820378   PMID:11114375   PMID:11466342   PMID:12477932   PMID:12882840  
PMID:15459183   PMID:15489334   PMID:15588985   PMID:16047337   PMID:17121583   PMID:17786190   PMID:18071878   PMID:19913121   PMID:20100931   PMID:20237496   PMID:20628086   PMID:21873635  
PMID:22111667   PMID:23184497   PMID:23268649   PMID:24461079   PMID:24623722   PMID:26883681   PMID:28222623   PMID:28514442   PMID:30021884   PMID:32296183  


Genomics

Comparative Map Data
CD72
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,609,979 - 35,646,810 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl935,609,533 - 35,646,810 (-)EnsemblGRCh38hg38GRCh38
GRCh38935,609,981 - 35,618,427 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,609,976 - 35,618,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,599,976 - 35,608,408 (-)NCBINCBI36hg18NCBI36
Build 34935,599,975 - 35,608,408NCBI
Celera935,543,537 - 35,551,985 (-)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,565,670 - 35,574,101 (-)NCBIHuRef
CHM1_1935,609,802 - 35,618,250 (-)NCBICHM1_1
Cd72
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,447,724 - 43,454,720 (-)NCBI
GRCm38443,447,724 - 43,455,102 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,446,462 - 43,454,628 (-)EnsemblGRCm38mm10GRCm38
MGSCv37443,460,596 - 43,467,498 (-)NCBIGRCm37mm9NCBIm37
MGSCv36443,468,835 - 43,475,663 (-)NCBImm8
Celera443,481,359 - 43,488,244 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map423.04NCBI
Cd72
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0558,943,021 - 58,950,373 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl558,943,027 - 58,950,373 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0563,468,967 - 63,476,319 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,918,085 - 59,925,437 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1559,918,265 - 59,925,616 (-)NCBI
Celera556,279,067 - 56,286,414 (-)NCBICelera
Cytogenetic Map5q22NCBI
Cd72
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955472663,451 - 670,890 (+)NCBIChiLan1.0ChiLan1.0
CD72
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1936,264,494 - 36,272,952 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl936,264,500 - 36,273,326 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0935,461,685 - 35,470,578 (-)NCBIMhudiblu_PPA_v0panPan3
CD72
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1152,170,893 - 52,178,301 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11152,170,893 - 52,179,035 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Cd72
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365243,620,464 - 3,629,065 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD72
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11236,345,894 - 236,355,755 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21264,070,941 - 264,078,597 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap1q21-q28NCBI
CD72
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11244,979,721 - 44,985,821 (+)NCBI
Cd72
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248685,191,123 - 5,198,466 (+)NCBI

Position Markers
RH98625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,619,685 - 35,619,827UniSTSGRCh37
Build 36935,609,685 - 35,609,827RGDNCBI36
Celera935,553,246 - 35,553,388RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,575,362 - 35,575,504UniSTS
GeneMap99-GB4 RH Map9139.7UniSTS
RH26484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,609,783 - 35,609,974UniSTSGRCh37
Build 36935,599,783 - 35,599,974RGDNCBI36
Celera935,543,344 - 35,543,535RGD
Cytogenetic Map9p13UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,565,477 - 35,565,668UniSTS
CD72_7759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,609,782 - 35,610,298UniSTSGRCh37
Build 36935,599,782 - 35,600,298RGDNCBI36
Celera935,543,343 - 35,543,859RGD
HuRef935,565,476 - 35,565,992UniSTS
D11S4618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,609,990 - 35,610,187UniSTSGRCh37
Build 36935,599,990 - 35,600,187RGDNCBI36
Celera935,543,551 - 35,543,748RGD
Cytogenetic Map9p13UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,565,684 - 35,565,881UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2913
Count of miRNA genes:898
Interacting mature miRNAs:1110
Transcripts:ENST00000259633, ENST00000378430, ENST00000378431, ENST00000396757, ENST00000463720, ENST00000465754, ENST00000470387, ENST00000477364, ENST00000482121, ENST00000490239
Prediction methods:Microtar, Miranda, Rnahybrid
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 pharyngeal arch
High
Medium 104 301 82 15 1016 14 138 4 43 17 56 218 1 143 40
Low 2188 2075 1595 557 888 403 3594 1202 2922 344 1323 1262 158 1060 2188 3 2
Below cutoff 140 613 45 49 45 45 614 990 755 56 73 121 12 1 559 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB180952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB180953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB180954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB180955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB180956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB180957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB180958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB180959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF283777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ174771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF064751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC231876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M54992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000259633   ⟹   ENSP00000259633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,609,982 - 35,618,413 (-)Ensembl
RefSeq Acc Id: ENST00000378430   ⟹   ENSP00000367687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,616,939 - 35,618,389 (-)Ensembl
RefSeq Acc Id: ENST00000378431   ⟹   ENSP00000367688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,616,170 - 35,618,370 (-)Ensembl
RefSeq Acc Id: ENST00000396757   ⟹   ENSP00000379980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,616,134 - 35,619,542 (-)Ensembl
RefSeq Acc Id: ENST00000463720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,615,943 - 35,618,353 (-)Ensembl
RefSeq Acc Id: ENST00000465754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,616,603 - 35,646,810 (-)Ensembl
RefSeq Acc Id: ENST00000470387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,616,566 - 35,619,534 (-)Ensembl
RefSeq Acc Id: ENST00000477364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,615,943 - 35,618,355 (-)Ensembl
RefSeq Acc Id: ENST00000482121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,616,894 - 35,618,376 (-)Ensembl
RefSeq Acc Id: ENST00000490239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,609,985 - 35,618,413 (-)Ensembl
RefSeq Acc Id: ENST00000612238   ⟹   ENSP00000483742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,609,979 - 35,618,811 (-)Ensembl
RefSeq Acc Id: NM_001782   ⟹   NP_001773
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,609,982 - 35,618,413 (-)NCBI
GRCh37935,609,976 - 35,618,862 (-)NCBI
Build 36935,599,976 - 35,608,408 (-)NCBI Archive
HuRef935,565,670 - 35,574,101 (-)ENTREZGENE
CHM1_1935,609,802 - 35,618,250 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716893   ⟹   XP_006716956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,609,981 - 35,618,427 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001773   ⟸   NM_001782
- UniProtKB: P21854 (UniProtKB/Swiss-Prot),   Q5TLG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716956   ⟸   XM_006716893
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000483742   ⟸   ENST00000612238
RefSeq Acc Id: ENSP00000259633   ⟸   ENST00000259633
RefSeq Acc Id: ENSP00000367687   ⟸   ENST00000378430
RefSeq Acc Id: ENSP00000367688   ⟸   ENST00000378431
RefSeq Acc Id: ENSP00000379980   ⟸   ENST00000396757
Protein Domains
C-type lectin

Promoters
RGD ID:6807549
Promoter ID:HG_KWN:63081
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378430,   ENST00000396759,   NM_001782,   OTTHUMT00000052338,   OTTHUMT00000052339,   OTTHUMT00000052341,   UC003ZXC.1,   UC010MKT.1,   UC010MKU.1,   UC010MKV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,608,321 - 35,609,702 (-)MPROMDB
RGD ID:6807370
Promoter ID:HG_KWN:63082
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000396757,   OTTHUMT00000052342
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,609,266 - 35,609,766 (-)MPROMDB
RGD ID:7215009
Promoter ID:EPDNEW_H13250
Type:initiation region
Name:CD72_2
Description:CD72 molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13251  EPDNEW_H13252  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,618,394 - 35,618,454EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_006285.2(TESK1):c.1091C>T (p.Ser364Leu) single nucleotide variant Malignant melanoma [RCV000068651] Chr9:35608952 [GRCh38]
Chr9:35608949 [GRCh37]
Chr9:35598949 [NCBI36]
Chr9:9p13.3
not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with mental retardation syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with mental retardation syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p13.3(chr9:35605099-35610055)x1 copy number loss not provided [RCV000748383] Chr9:35605099..35610055 [GRCh37]
Chr9:9p13.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1696 AgrOrtholog
COSMIC CD72 COSMIC
Ensembl Genes ENSG00000137101 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000259633 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367687 UniProtKB/TrEMBL
  ENSP00000367688 UniProtKB/TrEMBL
  ENSP00000379980 UniProtKB/TrEMBL
  ENSP00000483742 UniProtKB/TrEMBL
Ensembl Transcript ENST00000259633 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378430 UniProtKB/TrEMBL
  ENST00000378431 UniProtKB/TrEMBL
  ENST00000396757 UniProtKB/TrEMBL
  ENST00000612238 UniProtKB/TrEMBL
Gene3D-CATH 3.10.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137101 GTEx
HGNC ID HGNC:1696 ENTREZGENE
Human Proteome Map CD72 Human Proteome Map
InterPro C-type_lectin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-type_lectin-like/link_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CD72-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTDL_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:971 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 971 ENTREZGENE
OMIM 107272 OMIM
PANTHER PTHR15028 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lectin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26235 PharmGKB
PROSITE C_TYPE_LECTIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CLECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56436 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.116481 ENTREZGENE
UniProt A0A087X0Y7_HUMAN UniProtKB/TrEMBL
  A0A6E1WA84_HUMAN UniProtKB/TrEMBL
  CD72_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q0H7P2_HUMAN UniProtKB/TrEMBL
  Q5T4Q7_HUMAN UniProtKB/TrEMBL
  Q5T4Q8_HUMAN UniProtKB/TrEMBL
  Q5TLF7_HUMAN UniProtKB/TrEMBL
  Q5TLF8_HUMAN UniProtKB/TrEMBL
  Q5TLF9_HUMAN UniProtKB/TrEMBL
  Q5TLG0_HUMAN UniProtKB/TrEMBL
  Q5TLG3 ENTREZGENE, UniProtKB/TrEMBL