CRYGD (crystallin gamma D) - Rat Genome Database

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Gene: CRYGD (crystallin gamma D) Homo sapiens
Analyze
Symbol: CRYGD
Name: crystallin gamma D
RGD ID: 735833
HGNC Page HGNC:2411
Description: Predicted to be a structural constituent of eye lens. Involved in cellular response to reactive oxygen species and visual perception. Predicted to be located in cytoplasm and nucleus. Implicated in cataract 4 multiple types and cataract 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CACA; CCA3; CCP; cry-g-D; CRYG4; crystallin, gamma D; CTRCT4; gamma crystallin 4; gamma-crystallin 4; gamma-crystallin D; gamma-D-crystallin; PCC
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CRYGEP   CRYGFP   CRYGGP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382208,121,607 - 208,124,524 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2208,121,607 - 208,124,524 (-)EnsemblGRCh38hg38GRCh38
GRCh372208,986,331 - 208,989,248 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362208,694,577 - 208,697,458 (-)NCBINCBI36Build 36hg18NCBI36
Build 342208,811,837 - 208,814,719NCBI
Celera2202,754,599 - 202,757,581 (-)NCBICelera
Cytogenetic Map2q33.3NCBI
HuRef2200,834,785 - 200,837,767 (-)NCBIHuRef
CHM1_12208,992,125 - 208,995,102 (-)NCBICHM1_1
T2T-CHM13v2.02208,601,624 - 208,604,541 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (ISS)
nucleus  (ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. Nandrot E, etal., J Med Genet. 2003 Apr;40(4):262-7.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2258929   PMID:3011643   PMID:3025877   PMID:3670288   PMID:4033658   PMID:8733140   PMID:8943244   PMID:8983941   PMID:8999933   PMID:9426193   PMID:9927684   PMID:10521291  
PMID:10627816   PMID:10688888   PMID:10915766   PMID:11371638   PMID:12011157   PMID:12060738   PMID:12107413   PMID:12477932   PMID:12507494   PMID:12601044   PMID:12729747   PMID:12876325  
PMID:15041957   PMID:15064679   PMID:15451671   PMID:15489334   PMID:15709761   PMID:15722442   PMID:15815621   PMID:16030500   PMID:16046626   PMID:16274233   PMID:16288201   PMID:16891314  
PMID:16981715   PMID:17217786   PMID:17564961   PMID:17724170   PMID:17905830   PMID:17923670   PMID:18041179   PMID:18079686   PMID:18253099   PMID:18334953   PMID:18795792   PMID:19216553  
PMID:19275895   PMID:19358562   PMID:19382745   PMID:19390652   PMID:19633732   PMID:19668596   PMID:19758984   PMID:19937657   PMID:20508808   PMID:20553008   PMID:20616077   PMID:20621668  
PMID:21031598   PMID:21173272   PMID:21184609   PMID:21197114   PMID:21423869   PMID:21432932   PMID:21527994   PMID:21552497   PMID:21655238   PMID:21827768   PMID:21866213   PMID:21866214  
PMID:21873635   PMID:22219628   PMID:22289178   PMID:22328156   PMID:22394327   PMID:22655036   PMID:22669729   PMID:23082813   PMID:23124202   PMID:23651449   PMID:23670788   PMID:23957864  
PMID:24103489   PMID:24366391   PMID:24415662   PMID:24465161   PMID:25205362   PMID:25393041   PMID:25403472   PMID:25613833   PMID:25787081   PMID:26147294   PMID:26703476   PMID:26732753  
PMID:26991007   PMID:27417136   PMID:27455011   PMID:28401204   PMID:28474685   PMID:28849415   PMID:29532225   PMID:29949747   PMID:30242128   PMID:30251679   PMID:31266635   PMID:31393108  
PMID:31422822   PMID:32899552   PMID:33264606   PMID:33460241   PMID:33961781   PMID:34537240   PMID:35163513   PMID:37480084   PMID:37739288   PMID:38685567   PMID:39084439  


Genomics

Comparative Map Data
CRYGD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382208,121,607 - 208,124,524 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2208,121,607 - 208,124,524 (-)EnsemblGRCh38hg38GRCh38
GRCh372208,986,331 - 208,989,248 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362208,694,577 - 208,697,458 (-)NCBINCBI36Build 36hg18NCBI36
Build 342208,811,837 - 208,814,719NCBI
Celera2202,754,599 - 202,757,581 (-)NCBICelera
Cytogenetic Map2q33.3NCBI
HuRef2200,834,785 - 200,837,767 (-)NCBIHuRef
CHM1_12208,992,125 - 208,995,102 (-)NCBICHM1_1
T2T-CHM13v2.02208,601,624 - 208,604,541 (-)NCBIT2T-CHM13v2.0
Crygd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39165,101,001 - 65,102,598 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl165,101,031 - 65,102,611 (-)EnsemblGRCm39 Ensembl
GRCm38165,061,838 - 65,063,440 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl165,061,872 - 65,063,452 (-)EnsemblGRCm38mm10GRCm38
MGSCv37165,108,412 - 65,110,014 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36164,996,119 - 64,997,685 (-)NCBIMGSCv36mm8
Celera165,554,907 - 65,556,511 (-)NCBICelera
Cytogenetic Map1C2NCBI
cM Map132.8NCBI
Crygd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8973,935,798 - 73,937,409 (-)NCBIGRCr8
mRatBN7.2966,442,057 - 66,443,668 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl966,442,054 - 66,444,067 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx974,955,290 - 74,956,901 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0980,090,585 - 80,092,196 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0978,499,024 - 78,500,635 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0971,776,568 - 71,778,323 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl971,764,318 - 71,778,323 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0970,790,042 - 70,803,964 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4963,711,051 - 63,712,662 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1963,858,032 - 63,859,644 (-)NCBI
Celera963,837,702 - 63,839,313 (-)NCBICelera
Cytogenetic Map9q32NCBI
LOC100978046
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213110,727,056 - 110,730,505 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B110,742,032 - 110,745,236 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B95,352,149 - 95,356,237 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B213,476,336 - 213,479,279 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B213,476,336 - 213,479,279 (-)Ensemblpanpan1.1panPan2
CRYGD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13716,424,884 - 16,433,479 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3717,307,807 - 17,316,401 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03716,360,607 - 16,369,192 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3716,360,585 - 16,362,369 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13716,305,289 - 16,313,857 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03716,278,488 - 16,287,054 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03716,287,674 - 16,296,225 (-)NCBIUU_Cfam_GSD_1.0
LOC100519628
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15111,242,765 - 111,244,775 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115111,242,765 - 111,244,738 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CRYGD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11093,919,234 - 93,922,120 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1093,919,304 - 93,922,029 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040105,445,302 - 105,448,186 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in CRYGD
82 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006891.4(CRYGD):c.22_26delinsCCTTGCAGATCAC (p.Glu8fs) indel Aculeiform cataract [RCV002526155] Chr2:208124338..208124342 [GRCh38]
Chr2:208989062..208989066 [GRCh37]
Chr2:2q33.3		 pathogenic|uncertain significance
NM_006891.4(CRYGD):c.118A>T (p.Ser40Cys) single nucleotide variant not provided [RCV000521006] Chr2:208124246 [GRCh38]
Chr2:208988970 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys) single nucleotide variant Aculeiform cataract [RCV000803517]|Cataract 4 multiple types [RCV000018445]|not provided [RCV003328551] Chr2:208124321 [GRCh38]
Chr2:208989045 [GRCh37]
Chr2:2q33.3		 pathogenic
NM_006891.4(CRYGD):c.176G>A (p.Arg59His) single nucleotide variant Aculeiform cataract [RCV002228036]|CRYGD-related disorder [RCV003894812]|Cataract 4 multiple types [RCV000018446] Chr2:208124188 [GRCh38]
Chr2:208988912 [GRCh37]
Chr2:2q33.3		 pathogenic|uncertain significance
NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser) single nucleotide variant Aculeiform cataract [RCV005089270]|Cataract 4 multiple types [RCV000018447] Chr2:208124255 [GRCh38]
Chr2:208988979 [GRCh37]
Chr2:2q33.3		 pathogenic
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr) single nucleotide variant Aculeiform cataract [RCV001061709]|CRYGD-related disorder [RCV004730848]|Cataract 4 multiple types [RCV000018448]|Developmental cataract [RCV000203330]|not provided [RCV001596934] Chr2:208124294 [GRCh38]
Chr2:208989018 [GRCh37]
Chr2:2q33.3		 pathogenic|likely pathogenic
NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter) single nucleotide variant Cataract 4 multiple types [RCV000018450] Chr2:208121728 [GRCh38]
Chr2:208986452 [GRCh37]
Chr2:2q33.3		 pathogenic
NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser) single nucleotide variant Cataract 4 multiple types [RCV000018451] Chr2:208124294 [GRCh38]
Chr2:208989018 [GRCh37]
Chr2:2q33.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] Chr2:203010732..214671878 [GRCh38]
Chr2:203875455..215536602 [GRCh37]
Chr2:203583700..215244847 [NCBI36]
Chr2:2q33.2-35		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter) single nucleotide variant Aculeiform cataract [RCV003593865]|Cataract 4 multiple types [RCV000059331] Chr2:208121796 [GRCh38]
Chr2:208986520 [GRCh37]
Chr2:2q33.3		 pathogenic|likely pathogenic|uncertain significance
NM_006891.4(CRYGD):c.134T>C (p.Leu45Pro) single nucleotide variant CRYGD-related disorder [RCV004730893]|not provided [RCV000171329] Chr2:208124230 [GRCh38]
Chr2:208988954 [GRCh37]
Chr2:2q33.3		 likely pathogenic
GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1 copy number loss See cases [RCV000137082] Chr2:207949648..208438066 [GRCh38]
Chr2:208814372..209302791 [GRCh37]
Chr2:208522617..209011036 [NCBI36]
Chr2:2q33.3-34		 uncertain significance
GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1 copy number loss See cases [RCV000139325] Chr2:207058886..211245603 [GRCh38]
Chr2:207923610..212110328 [GRCh37]
Chr2:207631855..211818573 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1 copy number loss See cases [RCV000139629] Chr2:204906843..210031449 [GRCh38]
Chr2:205771566..210896173 [GRCh37]
Chr2:205479811..210604418 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
NM_006891.4(CRYGD):c.252+7A>G single nucleotide variant Cataract 4 multiple types [RCV000403355]|not provided [RCV000876651] Chr2:208124105 [GRCh38]
Chr2:208988829 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.4(CRYGD):c.482A>G (p.Asn161Ser) single nucleotide variant Aculeiform cataract [RCV002521368]|CRYGD-related disorder [RCV003422308]|Cataract 4 multiple types [RCV000384044] Chr2:208121716 [GRCh38]
Chr2:208986440 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.448dup (p.Asp150fs) duplication Cataract 4 multiple types [RCV004796097]|Developmental cataract [RCV000203375] Chr2:208121749..208121750 [GRCh38]
Chr2:208986473..208986474 [GRCh37]
Chr2:2q33.3		 pathogenic|likely pathogenic
NM_006891.4(CRYGD):c.130A>G (p.Met44Val) single nucleotide variant Aculeiform cataract [RCV000555485]|Cataract 4 multiple types [RCV000335668]|not provided [RCV001653619] Chr2:208124234 [GRCh38]
Chr2:208988958 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.4(CRYGD):c.10-7C>G single nucleotide variant Aculeiform cataract [RCV001520377]|CRYGD-related disorder [RCV003910289]|Cataract 4 multiple types [RCV000314681] Chr2:208124361 [GRCh38]
Chr2:208989085 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.4(CRYGD):c.252+10T>A single nucleotide variant Aculeiform cataract [RCV003758754]|Cataract 4 multiple types [RCV000341011]|not provided [RCV004709894] Chr2:208124102 [GRCh38]
Chr2:208988826 [GRCh37]
Chr2:2q33.3		 benign|likely benign
GRCh37/hg19 2q33.3(chr2:208986369-208989316)x3 copy number gain See cases [RCV000239942] Chr2:208986369..208989316 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.264C>G (p.His88Gln) single nucleotide variant Aculeiform cataract [RCV002521369]|CRYGD-related disorder [RCV004754395]|Cataract 4 multiple types [RCV000286104]|not provided [RCV001764306] Chr2:208121934 [GRCh38]
Chr2:208986658 [GRCh37]
Chr2:2q33.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) single nucleotide variant Aculeiform cataract [RCV000859322]|CRYGD-related disorder [RCV003983020]|Cataract 4 multiple types [RCV000414998]|Joubert syndrome 17 [RCV001258237]|not provided [RCV001636930] Chr2:208124196 [GRCh38]
Chr2:208988920 [GRCh37]
Chr2:2q33.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_006891.4(CRYGD):c.285A>G (p.Arg95=) single nucleotide variant Aculeiform cataract [RCV001513772]|Cataract 4 multiple types [RCV000380516]|not provided [RCV000837466]|not specified [RCV000254068] Chr2:208121913 [GRCh38]
Chr2:208986637 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.*12T>C single nucleotide variant Cataract 4 multiple types [RCV000274487]|not provided [RCV001660299]|not specified [RCV000245372] Chr2:208121661 [GRCh38]
Chr2:208986385 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.51T>C (p.Tyr17=) single nucleotide variant Aculeiform cataract [RCV001513773]|Cataract 4 multiple types [RCV000397516]|not provided [RCV000836482]|not specified [RCV000245673] Chr2:208124313 [GRCh38]
Chr2:208989037 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.9+20C>T single nucleotide variant Aculeiform cataract [RCV002058216]|not provided [RCV004709457]|not specified [RCV000250615] Chr2:208124445 [GRCh38]
Chr2:208989169 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.189T>C (p.Tyr63=) single nucleotide variant Cataract 4 multiple types [RCV001142143]|not specified [RCV000250731] Chr2:208124175 [GRCh38]
Chr2:208988899 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.4(CRYGD):c.-40C>T single nucleotide variant Cataract 4 multiple types [RCV000397701]|not provided [RCV004709895] Chr2:208124513 [GRCh38]
Chr2:208989237 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.4(CRYGD):c.376G>A (p.Val126Met) single nucleotide variant Aculeiform cataract [RCV000872623]|CRYGD-related disorder [RCV003940345]|Cataract 4 multiple types [RCV000289677]|not provided [RCV004597782] Chr2:208121822 [GRCh38]
Chr2:208986546 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.3(CRYGD):c.-77T>C single nucleotide variant Cataract [RCV000311085] Chr2:208124550 [GRCh38]
Chr2:208989274 [GRCh37]
Chr2:2q33.3		 likely benign
NM_006891.4(CRYGD):c.499C>T (p.Leu167=) single nucleotide variant Aculeiform cataract [RCV000878241]|Cataract 4 multiple types [RCV000329510] Chr2:208121699 [GRCh38]
Chr2:208986423 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.4(CRYGD):c.-39C>T single nucleotide variant Cataract 4 multiple types [RCV000369348] Chr2:208124512 [GRCh38]
Chr2:208989236 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.4(CRYGD):c.356A>G (p.Asn119Ser) single nucleotide variant Aculeiform cataract [RCV001907672] Chr2:208121842 [GRCh38]
Chr2:208986566 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.9+2T>G single nucleotide variant not provided [RCV000585070] Chr2:208124463 [GRCh38]
Chr2:208989187 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_006891.3(CRYGD):c.-80A>C single nucleotide variant Cataract [RCV000365936] Chr2:208124553 [GRCh38]
Chr2:208989277 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.295A>G (p.Arg99Gly) single nucleotide variant Cataract 4 multiple types [RCV000325869] Chr2:208121903 [GRCh38]
Chr2:208986627 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_006891.4(CRYGD):c.63C>T (p.Ser21=) single nucleotide variant Aculeiform cataract [RCV002231826]|Cataract 4 multiple types [RCV000560772]|not provided [RCV003431091] Chr2:208124301 [GRCh38]
Chr2:208989025 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.4(CRYGD):c.400_410del (p.Tyr134fs) deletion Aculeiform cataract [RCV002233519] Chr2:208121788..208121798 [GRCh38]
Chr2:208986512..208986522 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.155C>G (p.Ser52Trp) single nucleotide variant Aculeiform cataract [RCV002233520]|Inborn genetic diseases [RCV002528908]|not provided [RCV004692017] Chr2:208124209 [GRCh38]
Chr2:208988933 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.475del (p.Ala159fs) deletion Aculeiform cataract [RCV000696202] Chr2:208121723 [GRCh38]
Chr2:208986447 [GRCh37]
Chr2:2q33.3		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35		 pathogenic
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) single nucleotide variant Aculeiform cataract [RCV002233615]|CRYGD-related disorder [RCV004731011]|Cataract 4 multiple types [RCV000695895]|Inborn genetic diseases [RCV003279010] Chr2:208121780 [GRCh38]
Chr2:208986504 [GRCh37]
Chr2:2q33.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_006891.4(CRYGD):c.480G>A (p.Thr160=) single nucleotide variant not provided [RCV000896897] Chr2:208121718 [GRCh38]
Chr2:208986442 [GRCh37]
Chr2:2q33.3		 likely benign
NM_006891.4(CRYGD):c.457C>T (p.Arg153Cys) single nucleotide variant not provided [RCV000762314] Chr2:208121741 [GRCh38]
Chr2:208986465 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.44G>A (p.Arg15His) single nucleotide variant Aculeiform cataract [RCV001045225] Chr2:208124320 [GRCh38]
Chr2:208989044 [GRCh37]
Chr2:2q33.3		 benign|uncertain significance
NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys) single nucleotide variant Aculeiform cataract [RCV001481301]|CRYGD-related disorder [RCV004754558]|High myopia [RCV000785701]|not specified [RCV002249464] Chr2:208124183 [GRCh38]
Chr2:208988907 [GRCh37]
Chr2:2q33.3		 likely benign|uncertain significance
NM_006891.4(CRYGD):c.252C>G (p.His84Gln) single nucleotide variant Aculeiform cataract [RCV000813871] Chr2:208124112 [GRCh38]
Chr2:208988836 [GRCh37]
Chr2:2q33.3		 uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
GRCh37/hg19 2q33.3-34(chr2:208965516-209396109)x3 copy number gain not provided [RCV001005372] Chr2:208965516..209396109 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3 copy number gain not provided [RCV000847666] Chr2:208965515..209383510 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q33.3-34(chr2:208956981-209383510)x3 copy number gain not provided [RCV000847075] Chr2:208956981..209383510 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
NM_006891.4(CRYGD):c.-44_-23del deletion not provided [RCV001641193] Chr2:208124496..208124517 [GRCh38]
Chr2:208989220..208989241 [GRCh37]
Chr2:2q33.3		 benign
NC_000002.12:g.208124868A>G single nucleotide variant not provided [RCV001560943] Chr2:208124868 [GRCh38]
Chr2:208989592 [GRCh37]
Chr2:2q33.3		 likely benign
NC_000002.12:g.208124828T>C single nucleotide variant not provided [RCV001688625] Chr2:208124828 [GRCh38]
Chr2:208989552 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.253-266T>C single nucleotide variant not provided [RCV001676453] Chr2:208122211 [GRCh38]
Chr2:208986935 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.253-169G>T single nucleotide variant not provided [RCV001686028] Chr2:208122114 [GRCh38]
Chr2:208986838 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.479C>T (p.Thr160Met) single nucleotide variant Aculeiform cataract [RCV005093622]|Cataract 4 multiple types [RCV001139540] Chr2:208121719 [GRCh38]
Chr2:208986443 [GRCh37]
Chr2:2q33.3		 benign|uncertain significance
NM_006891.4(CRYGD):c.252C>T (p.His84=) single nucleotide variant Cataract 4 multiple types [RCV001140306] Chr2:208124112 [GRCh38]
Chr2:208988836 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.192C>G (p.Ala64=) single nucleotide variant Cataract 4 multiple types [RCV001140308] Chr2:208124172 [GRCh38]
Chr2:208988896 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.238C>T (p.Arg80Cys) single nucleotide variant Cataract 4 multiple types [RCV001140307] Chr2:208124126 [GRCh38]
Chr2:208988850 [GRCh37]
Chr2:2q33.3		 likely benign
NM_006891.4(CRYGD):c.9+20C>G single nucleotide variant Aculeiform cataract [RCV002073144]|not provided [RCV001671401] Chr2:208124445 [GRCh38]
Chr2:208989169 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.253-170T>C single nucleotide variant not provided [RCV001680477] Chr2:208122115 [GRCh38]
Chr2:208986839 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.9+15C>T single nucleotide variant Aculeiform cataract [RCV005093630]|Cataract 4 multiple types [RCV001142144] Chr2:208124450 [GRCh38]
Chr2:208989174 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.4(CRYGD):c.-33A>G single nucleotide variant Cataract 4 multiple types [RCV001137411]|not provided [RCV004694846] Chr2:208124506 [GRCh38]
Chr2:208989230 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.333T>C (p.Cys111=) single nucleotide variant Cataract 4 multiple types [RCV001139541] Chr2:208121865 [GRCh38]
Chr2:208986589 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 copy number loss not provided [RCV001258576] Chr2:204445619..212580788 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_006891.4(CRYGD):c.233C>T (p.Ser78Phe) single nucleotide variant Cataract 4 multiple types [RCV001807531] Chr2:208124131 [GRCh38]
Chr2:208988855 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.344G>A (p.Arg115His) single nucleotide variant Aculeiform cataract [RCV001352168] Chr2:208121854 [GRCh38]
Chr2:208986578 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.252+317G>A single nucleotide variant not provided [RCV001687792] Chr2:208123795 [GRCh38]
Chr2:208988519 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.240C>T (p.Arg80=) single nucleotide variant Aculeiform cataract [RCV001487057]|not provided [RCV004711682] Chr2:208124124 [GRCh38]
Chr2:208988848 [GRCh37]
Chr2:2q33.3		 likely benign
NC_000002.12:g.208124857G>A single nucleotide variant not provided [RCV001713750] Chr2:208124857 [GRCh38]
Chr2:208989581 [GRCh37]
Chr2:2q33.3		 benign
NM_006891.4(CRYGD):c.51T>G (p.Tyr17Ter) single nucleotide variant not provided [RCV001732265] Chr2:208124313 [GRCh38]
Chr2:208989037 [GRCh37]
Chr2:2q33.3		 likely pathogenic
NM_006891.4(CRYGD):c.386G>A (p.Gly129Asp) single nucleotide variant not provided [RCV001756492] Chr2:208121812 [GRCh38]
Chr2:208986536 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.97T>C (p.Cys33Arg) single nucleotide variant Aculeiform cataract [RCV001872079] Chr2:208124267 [GRCh38]
Chr2:208988991 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q33.3-34(chr2:208801409-209164383) copy number gain not specified [RCV002053277] Chr2:208801409..209164383 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34		 pathogenic
NM_006891.4(CRYGD):c.471G>A (p.Trp157Ter) single nucleotide variant Aculeiform cataract [RCV002020658]|not provided [RCV004719225] Chr2:208121727 [GRCh38]
Chr2:208986451 [GRCh37]
Chr2:2q33.3		 likely pathogenic
NM_006891.4(CRYGD):c.86A>G (p.Tyr29Cys) single nucleotide variant Aculeiform cataract [RCV001945596] Chr2:208124278 [GRCh38]
Chr2:208989002 [GRCh37]
Chr2:2q33.3		 uncertain significance
NC_000002.11:g.(?_203420070)_(211811277_?)del deletion Primary pulmonary hypertension [RCV002016799] Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34		 uncertain significance
NM_006891.4(CRYGD):c.334C>G (p.Leu112Val) single nucleotide variant Aculeiform cataract [RCV002094334] Chr2:208121864 [GRCh38]
Chr2:208986588 [GRCh37]
Chr2:2q33.3		 likely benign
NC_000002.11:g.(?_208986397)_(209220029_?)del deletion not provided [RCV003119473] Chr2:208986397..209220029 [GRCh37]
Chr2:2q33.3-34		 pathogenic
NM_006891.4(CRYGD):c.193G>A (p.Asp65Asn) single nucleotide variant not provided [RCV003152018] Chr2:208124171 [GRCh38]
Chr2:208988895 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_006891.4(CRYGD):c.154T>C (p.Ser52Pro) single nucleotide variant Aculeiform cataract [RCV002819120] Chr2:208124210 [GRCh38]
Chr2:208988934 [GRCh37]
Chr2:2q33.3		 likely pathogenic
NM_006891.4(CRYGD):c.150C>A (p.Asn50Lys) single nucleotide variant Inborn genetic diseases [RCV002986824] Chr2:208124214 [GRCh38]
Chr2:208988938 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.262C>T (p.His88Tyr) single nucleotide variant Inborn genetic diseases [RCV002878430] Chr2:208121936 [GRCh38]
Chr2:208986660 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.110G>C (p.Arg37Pro) single nucleotide variant not provided [RCV003329934] Chr2:208124254 [GRCh38]
Chr2:208988978 [GRCh37]
Chr2:2q33.3		 likely pathogenic
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_006891.4(CRYGD):c.236G>A (p.Cys79Tyr) single nucleotide variant CRYGD-related disorder [RCV003399977] Chr2:208124128 [GRCh38]
Chr2:208988852 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.223T>C (p.Ser75Pro) single nucleotide variant CRYGD-related disorder [RCV003391472] Chr2:208124141 [GRCh38]
Chr2:208988865 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.290A>T (p.Asp97Val) single nucleotide variant Cataract 4 multiple types [RCV003485872] Chr2:208121908 [GRCh38]
Chr2:208986632 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.161_163del (p.Leu54del) deletion Aculeiform cataract [RCV003594613] Chr2:208124201..208124203 [GRCh38]
Chr2:208988925..208988927 [GRCh37]
Chr2:2q33.3		 likely pathogenic
NM_006891.4(CRYGD):c.9+17C>T single nucleotide variant Aculeiform cataract [RCV003594615] Chr2:208124448 [GRCh38]
Chr2:208989172 [GRCh37]
Chr2:2q33.3		 benign
GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3 copy number gain not specified [RCV003986330] Chr2:208965515..209383510 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1 copy number loss not specified [RCV003986210] Chr2:204110688..211638554 [GRCh37]
Chr2:2q33.2-34		 pathogenic
NM_006891.4(CRYGD):c.419G>A (p.Arg140Gln) single nucleotide variant Aculeiform cataract [RCV003866947] Chr2:208121779 [GRCh38]
Chr2:208986503 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
NM_006891.4(CRYGD):c.401A>G (p.Tyr134Cys) single nucleotide variant Aculeiform cataract [RCV003758614] Chr2:208121797 [GRCh38]
Chr2:208986521 [GRCh37]
Chr2:2q33.3		 likely benign
NM_006891.4(CRYGD):c.173T>G (p.Leu58Arg) single nucleotide variant Cataract 4 multiple types [RCV003991802] Chr2:208124191 [GRCh38]
Chr2:208988915 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.19T>C (p.Tyr7His) single nucleotide variant CRYGD-related disorder [RCV003942169] Chr2:208124345 [GRCh38]
Chr2:208989069 [GRCh37]
Chr2:2q33.3		 likely benign
NM_006891.4(CRYGD):c.458G>A (p.Arg153His) single nucleotide variant Inborn genetic diseases [RCV004370238] Chr2:208121740 [GRCh38]
Chr2:208986464 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.120C>A (p.Ser40Arg) single nucleotide variant Inborn genetic diseases [RCV004370237] Chr2:208124244 [GRCh38]
Chr2:208988968 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.253-5G>A single nucleotide variant Aculeiform cataract [RCV005101689]|CRYGD-related disorder [RCV003921494] Chr2:208121950 [GRCh38]
Chr2:208986674 [GRCh37]
Chr2:2q33.3		 benign|likely benign
NM_006891.4(CRYGD):c.279T>C (p.Tyr93=) single nucleotide variant CRYGD-related disorder [RCV003924024] Chr2:208121919 [GRCh38]
Chr2:208986643 [GRCh37]
Chr2:2q33.3		 likely benign
NM_006891.4(CRYGD):c.82C>T (p.Pro28Ser) single nucleotide variant Inborn genetic diseases [RCV004613517] Chr2:208124282 [GRCh38]
Chr2:208989006 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.187T>C (p.Tyr63His) single nucleotide variant Inborn genetic diseases [RCV004979230] Chr2:208124177 [GRCh38]
Chr2:208988901 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.137A>G (p.Tyr46Cys) single nucleotide variant Inborn genetic diseases [RCV004979231] Chr2:208124227 [GRCh38]
Chr2:208988951 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_006891.4(CRYGD):c.4G>C (p.Gly2Arg) single nucleotide variant Aculeiform cataract [RCV005189326] Chr2:208124470 [GRCh38]
Chr2:208989194 [GRCh37]
Chr2:2q33.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:83
Count of miRNA genes:83
Interacting mature miRNAs:83
Transcripts:ENST00000264376
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human

Markers in Region
RH71454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,990,137 - 208,990,285UniSTSGRCh37
Build 362208,698,382 - 208,698,530RGDNCBI36
Celera2202,758,405 - 202,758,553RGD
Cytogenetic Map2q33-q35UniSTS
Cytogenetic Map2q33.3UniSTS
HuRef2200,838,591 - 200,838,739UniSTS
GeneMap99-GB4 RH Map2640.43UniSTS
CRYGD_8282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,986,135 - 208,986,660UniSTSGRCh37
Build 362208,694,380 - 208,694,905RGDNCBI36
Celera2202,754,403 - 202,754,928RGD
HuRef2200,834,589 - 200,835,114UniSTS


Expression

RNA-SEQ Expression

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
renal system
reproductive system
respiratory system
sensory system
visual system
133 919 209 340 3037 313 361 1 56 509 28 344 1323 1333 12 2823 251 1107 162 30 1

Sequence


Ensembl Acc Id: ENST00000264376   ⟹   ENSP00000264376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,121,607 - 208,124,524 (-)Ensembl
RefSeq Acc Id: NM_006891   ⟹   NP_008822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,121,607 - 208,124,524 (-)NCBI
GRCh372208,986,331 - 208,989,313 (-)ENTREZGENE
Build 362208,694,577 - 208,697,458 (-)NCBI Archive
HuRef2200,834,785 - 200,837,767 (-)ENTREZGENE
CHM1_12208,992,125 - 208,995,102 (-)NCBI
T2T-CHM13v2.02208,601,624 - 208,604,541 (-)NCBI
Sequence:
RefSeq Acc Id: NP_008822   ⟸   NM_006891
- UniProtKB: Q53R51 (UniProtKB/Swiss-Prot),   Q17RF7 (UniProtKB/Swiss-Prot),   Q99681 (UniProtKB/Swiss-Prot),   P07320 (UniProtKB/Swiss-Prot),   A0A140CTX7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000264376   ⟸   ENST00000264376
Protein Domains
Beta/gamma crystallin 'Greek key'

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07320-F1-model_v2 AlphaFold P07320 1-174 view protein structure

Promoters
RGD ID:6862670
Promoter ID:EPDNEW_H4500
Type:initiation region
Name:CRYGD_1
Description:crystallin gamma D
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
GRCh382208,124,524 - 208,124,584EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2411 AgrOrtholog
COSMIC CRYGD COSMIC
Ensembl Genes ENSG00000118231 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000285434 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000264376 ENTREZGENE
  ENST00000264376.5 UniProtKB/Swiss-Prot
  ENST00000644920.2 UniProtKB/Swiss-Prot
Gene3D-CATH Crystallins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118231 GTEx
  ENSG00000285434 GTEx
HGNC ID HGNC:2411 ENTREZGENE
Human Proteome Map CRYGD Human Proteome Map
InterPro Beta/Gamma-Crystallin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Beta/gamma_crystallin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_crystallin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1421 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1421 ENTREZGENE
OMIM 123690 OMIM
PANTHER BETA/GAMMA CRYSTALLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GAMMA-CRYSTALLIN D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Crystall UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26918 PharmGKB
PRINTS BGCRYSTALLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CRYSTALLIN_BETA_GAMMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART XTALbg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140CTX7 ENTREZGENE, UniProtKB/TrEMBL
  CRGD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q17RF7 ENTREZGENE
  Q53R51 ENTREZGENE
  Q99681 ENTREZGENE
UniProt Secondary Q17RF7 UniProtKB/Swiss-Prot
  Q53R51 UniProtKB/Swiss-Prot
  Q99681 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CRYGD  crystallin gamma D  CRYGD  crystallin, gamma D  Symbol and/or name change 5135510 APPROVED