CROCC2 (ciliary rootlet coiled-coil, rootletin family member 2) - Rat Genome Database

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Gene: CROCC2 (ciliary rootlet coiled-coil, rootletin family member 2) Homo sapiens
Analyze
Symbol: CROCC2
Name: ciliary rootlet coiled-coil, rootletin family member 2
RGD ID: 10040878
HGNC Page HGNC:51677
Description: Predicted to be active in centriole and centrosome; INTERACTS WITH benzo[a]pyrene; 4,4'-sulfonyldiphenol (ortholog); bisphenol F (ortholog).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ciliary rootlet coiled-coil protein 2; putative ciliary rootlet coiled-coil protein 2; rootletin-like
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
GRCh382240,906,336 - 240,993,311 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2240,906,330 - 240,993,311 (+)EnsemblGRCh38hg38GRCh38
GRCh372241,845,753 - 241,932,728 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,491,914 - 241,581,401 (+)NCBINCBI36Build 36hg18NCBI36
Celera2235,525,451 - 235,600,411 (+)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2233,630,832 - 233,647,812 (+)NCBIHuRef
CHM1_12241,878,338 - 241,911,575 (+)NCBICHM1_1
T2T-CHM13v2.02241,405,412 - 241,492,295 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component
centriole  (IBA)
centrosome  (IBA)

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8889548   PMID:21873635   PMID:23044541   PMID:30021884   PMID:31343991   PMID:34732716   PMID:36543142   PMID:36774506   PMID:36849460  


Genomics

Comparative Map Data
CROCC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382240,906,336 - 240,993,311 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2240,906,330 - 240,993,311 (+)EnsemblGRCh38hg38GRCh38
GRCh372241,845,753 - 241,932,728 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,491,914 - 241,581,401 (+)NCBINCBI36Build 36hg18NCBI36
Celera2235,525,451 - 235,600,411 (+)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2233,630,832 - 233,647,812 (+)NCBIHuRef
CHM1_12241,878,338 - 241,911,575 (+)NCBICHM1_1
T2T-CHM13v2.02241,405,412 - 241,492,295 (+)NCBIT2T-CHM13v2.0
Crocc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39193,096,145 - 93,158,789 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl193,096,447 - 93,158,794 (+)EnsemblGRCm39 Ensembl
GRCm38193,168,423 - 93,231,067 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl193,168,725 - 93,231,072 (+)EnsemblGRCm38mm10GRCm38
MGSCv37195,065,302 - 95,127,649 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36194,999,131 - 95,061,480 (+)NCBIMGSCv36mm8
Celera196,113,378 - 96,175,767 (+)NCBICelera
Cytogenetic Map1DNCBI
cM Map147.17NCBI
Crocc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89101,155,815 - 101,217,036 (+)NCBIGRCr8
mRatBN7.2993,708,786 - 93,769,617 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl993,708,684 - 93,769,402 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.09100,314,988 - 100,376,006 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0999,967,218 - 100,033,051 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4992,456,914 - 92,503,028 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera991,244,020 - 91,304,746 (+)NCBICelera
Cytogenetic Map9q36NCBI
Crocc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955542646,143 - 694,682 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955542647,145 - 694,523 (-)NCBIChiLan1.0ChiLan1.0
CROCC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213143,594,943 - 143,678,874 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B143,609,908 - 143,693,824 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B128,164,643 - 128,248,255 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B246,967,325 - 247,048,780 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B246,967,325 - 247,050,201 (+)Ensemblpanpan1.1panPan2
CROCC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12550,994,194 - 51,046,435 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2551,004,465 - 51,038,700 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2551,216,846 - 51,266,381 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02551,198,427 - 51,248,148 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12551,030,968 - 51,095,863 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02550,786,031 - 50,835,491 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02551,062,010 - 51,111,670 (+)NCBIUU_Cfam_GSD_1.0
Crocc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303192,378,922 - 192,438,562 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936745782,495 - 840,280 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CROCC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15139,766,414 - 139,811,999 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115139,749,160 - 139,817,779 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215154,902,554 - 154,934,056 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CROCC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110126,983,470 - 127,052,328 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604072,333,885 - 72,413,862 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Crocc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248475,095,451 - 5,142,313 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248475,095,183 - 5,145,196 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CROCC2
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 copy number loss See cases [RCV000143423] Chr2:239642965..241841232 [GRCh38]
Chr2:240564659..242783384 [GRCh37]
Chr2:240229596..242432057 [NCBI36]
Chr2:2q37.3		 likely pathogenic
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 copy number loss See cases [RCV000140648] Chr2:240228628..242126245 [GRCh38]
Chr2:241168045..243059659 [GRCh37]
Chr2:240816718..242717069 [NCBI36]
Chr2:2q37.3		 uncertain significance
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1 copy number loss See cases [RCV000141077] Chr2:240671231..242092126 [GRCh38]
Chr2:241610648..243034277 [GRCh37]
Chr2:241259321..242682950 [NCBI36]
Chr2:2q37.3		 likely pathogenic
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 copy number loss See cases [RCV000138117] Chr2:238833519..242126245 [GRCh38]
Chr2:239742160..243059659 [GRCh37]
Chr2:239406907..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 copy number loss See cases [RCV000141691] Chr2:239507342..241841232 [GRCh38]
Chr2:240429036..242783384 [GRCh37]
Chr2:240093973..242432057 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 copy number loss See cases [RCV000138565] Chr2:240187901..242126245 [GRCh38]
Chr2:241127318..243059659 [GRCh37]
Chr2:240775991..242717069 [NCBI36]
Chr2:2q37.3		 likely 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 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3		 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
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3 copy number gain See cases [RCV000052979] Chr2:240712924..241408725 [GRCh38]
Chr2:241652341..242348140 [GRCh37]
Chr2:241301014..241996813 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240910571-242126392)x3 copy number gain See cases [RCV000052980] Chr2:240910571..242126392 [GRCh38]
Chr2:241849988..243059659 [GRCh37]
Chr2:241498661..242717216 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 copy number loss See cases [RCV000135842] Chr2:240171137..242065208 [GRCh38]
Chr2:241110554..243007359 [GRCh37]
Chr2:240759227..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 copy number gain See cases [RCV000133659] Chr2:238756369..241771051 [GRCh38]
Chr2:239665010..242710466 [GRCh37]
Chr2:239329749..242359139 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240976892-240979817)x3 copy number gain See cases [RCV000135118] Chr2:240976892..240979817 [GRCh38]
Chr2:241916309..241919234 [GRCh37]
Chr2:241564982..241567907 [NCBI36]
Chr2:2q37.3		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1 copy number loss See cases [RCV000135545] Chr2:240507151..242065208 [GRCh38]
Chr2:241446568..243007359 [GRCh37]
Chr2:241095241..242656032 [NCBI36]
Chr2:2q37.3		 likely pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 copy number loss See cases [RCV000136686] Chr2:240067206..242126245 [GRCh38]
Chr2:241006623..243059659 [GRCh37]
Chr2:240655296..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] Chr2:238939181..242065208 [GRCh38]
Chr2:239860877..243007359 [GRCh37]
Chr2:239525814..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 copy number loss See cases [RCV000052702] Chr2:240067206..242086301 [GRCh38]
Chr2:241006623..243028452 [GRCh37]
Chr2:240655296..242677125 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 copy number loss See cases [RCV000052703] Chr2:240444819..242086301 [GRCh38]
Chr2:241384236..243028452 [GRCh37]
Chr2:241032909..242677125 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1 copy number loss See cases [RCV000052704] Chr2:240506951..242065349 [GRCh38]
Chr2:241446368..243007500 [GRCh37]
Chr2:241095041..242656173 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
Single allele deletion Chromosome 2q37 deletion syndrome [RCV002247720] Chr2:236710422..242106504 [GRCh38]
Chr2:2q37.3		 pathogenic
NM_001351305.2(CROCC2):c.33G>C (p.Gly11=) single nucleotide variant not provided [RCV003440288] Chr2:240906546 [GRCh38]
Chr2:241845963 [GRCh37]
Chr2:2q37.3		 likely benign
NM_001351305.2(CROCC2):c.2025G>A (p.Ala675=) single nucleotide variant not provided [RCV003431211] Chr2:240935444 [GRCh38]
Chr2:241874861 [GRCh37]
Chr2:2q37.3		 likely benign
NM_001351305.2(CROCC2):c.2454C>T (p.Ser818=) single nucleotide variant not provided [RCV003431212] Chr2:240949069 [GRCh38]
Chr2:241888486 [GRCh37]
Chr2:2q37.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3007
Count of miRNA genes:958
Interacting mature miRNAs:1206
Transcripts:ENST00000420530, ENST00000427156, ENST00000430980, ENST00000440780, ENST00000442811, ENST00000443866, ENST00000477311, ENST00000480779, ENST00000545144
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 2 5 11 17 77
Low 78 52 289 69 410 64 507 15 881 19 335 450 6 84 451
Below cutoff 1906 2282 1293 473 835 318 3132 1634 2187 166 934 851 156 1107 1923 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001351305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU682871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX091140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT932542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DY655377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DY655577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DY655578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EG327310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EG327700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000443866   ⟹   ENSP00000397968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2240,906,330 - 240,993,311 (+)Ensembl
RefSeq Acc Id: ENST00000477311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2240,932,519 - 240,933,317 (+)Ensembl
RefSeq Acc Id: ENST00000480779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2240,949,655 - 240,950,929 (+)Ensembl
RefSeq Acc Id: ENST00000690015   ⟹   ENSP00000508848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2240,906,336 - 240,993,311 (+)Ensembl
RefSeq Acc Id: NM_001351305   ⟹   NP_001338234
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,906,336 - 240,993,311 (+)NCBI
T2T-CHM13v2.02241,405,592 - 241,492,295 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453115   ⟹   XP_024308883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,906,336 - 240,993,311 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054343722   ⟹   XP_054199697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02241,405,412 - 241,492,295 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001338234 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308883 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199697 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000397968.2
  ENSP00000508848
  ENSP00000508848.1
GenBank Protein H7BZ55 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: XP_024308883   ⟸   XM_024453115
- Peptide Label: isoform X1
- UniProtKB: A0A8J8ZEH8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001338234   ⟸   NM_001351305
- UniProtKB: H7BZ55 (UniProtKB/Swiss-Prot),   A0A8J8ZEH8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000397968   ⟸   ENST00000443866
RefSeq Acc Id: ENSP00000508848   ⟸   ENST00000690015
RefSeq Acc Id: XP_054199697   ⟸   XM_054343722
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-H7BZ55-F1-model_v2 AlphaFold H7BZ55 1-1653 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:51677 AgrOrtholog
COSMIC CROCC2 COSMIC
Ensembl Genes ENSG00000226321 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000443866.2 UniProtKB/TrEMBL
  ENST00000690015 ENTREZGENE
  ENST00000690015.1 UniProtKB/Swiss-Prot
GTEx ENSG00000226321 GTEx
HGNC ID HGNC:51677 ENTREZGENE
Human Proteome Map CROCC2 Human Proteome Map
NCBI Gene CROCC2 ENTREZGENE
PANTHER CENTROSOMAL PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CILIARY ROOTLET COILED-COIL PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rootletin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166180596 PharmGKB
UniProt A0A8J8ZEH8 ENTREZGENE, UniProtKB/TrEMBL
  CRCC2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE