C17orf67 (chromosome 17 open reading frame 67) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: C17orf67 (chromosome 17 open reading frame 67) Homo sapiens
Analyze
Symbol: C17orf67
Name: chromosome 17 open reading frame 67
RGD ID: 1603500
HGNC Page HGNC:27900
Description: Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein LOC339210; uncharacterized protein C17orf67
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381756,791,913 - 56,833,920 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1756,791,913 - 56,838,773 (-)EnsemblGRCh38hg38GRCh38
GRCh371754,869,274 - 54,911,281 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361752,224,273 - 52,248,249 (-)NCBINCBI36Build 36hg18NCBI36
Celera1751,330,963 - 51,354,807 (-)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1750,230,102 - 50,271,445 (-)NCBIHuRef
CHM1_11754,934,098 - 54,976,388 (-)NCBICHM1_1
T2T-CHM13v2.01757,668,072 - 57,711,152 (-)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

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:19266077   PMID:23354108   PMID:23361222   PMID:25416956   PMID:25429064   PMID:32814053  


Genomics

Comparative Map Data
C17orf67
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381756,791,913 - 56,833,920 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1756,791,913 - 56,838,773 (-)EnsemblGRCh38hg38GRCh38
GRCh371754,869,274 - 54,911,281 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361752,224,273 - 52,248,249 (-)NCBINCBI36Build 36hg18NCBI36
Celera1751,330,963 - 51,354,807 (-)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1750,230,102 - 50,271,445 (-)NCBIHuRef
CHM1_11754,934,098 - 54,976,388 (-)NCBICHM1_1
T2T-CHM13v2.01757,668,072 - 57,711,152 (-)NCBIT2T-CHM13v2.0
Gm525
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391188,957,346 - 88,983,890 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1188,964,667 - 88,983,866 (+)EnsemblGRCm39 Ensembl
GRCm381189,073,841 - 89,093,064 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1189,073,841 - 89,093,040 (+)EnsemblGRCm38mm10GRCm38
MGSCv371188,935,155 - 88,954,378 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361188,890,014 - 88,909,130 (+)NCBIMGSCv36mm8
MGSCv361189,815,532 - 89,835,364 (+)NCBIMGSCv36mm8
Celera1198,695,515 - 98,711,369 (+)NCBICelera
Cytogenetic Map11CNCBI
cM Map1154.34NCBI
C10h17orf67
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81074,392,541 - 74,413,323 (+)NCBIGRCr8
mRatBN7.21073,895,343 - 73,916,133 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1073,895,343 - 73,916,133 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1078,519,589 - 78,540,372 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01078,024,521 - 78,045,307 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01073,487,685 - 73,508,473 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01073,659,109 - 73,660,475 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01073,560,665 - 73,562,029 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1072,799,772 - 72,820,093 (+)NCBICelera
Cytogenetic Map10q26NCBI
CUNH17orf67
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554516,003,652 - 6,020,474 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554516,003,689 - 6,020,435 (+)NCBIChiLan1.0ChiLan1.0
C19H17orf67
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21972,964,912 - 73,008,682 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11777,775,842 - 77,819,608 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01750,869,206 - 50,912,963 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11755,731,510 - 55,774,063 (-)NCBIpanpan1.1PanPan1.1panPan2
C9H17orf67
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1931,633,326 - 31,654,303 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl931,633,305 - 31,661,065 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha930,873,196 - 30,893,638 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0932,440,931 - 32,461,415 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl932,440,918 - 32,468,716 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1931,226,147 - 31,246,626 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0931,510,380 - 31,530,855 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0931,593,655 - 31,614,149 (-)NCBIUU_Cfam_GSD_1.0
CUNH17orf67
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560230,996,193 - 31,017,132 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364906,058,007 - 6,076,211 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364906,058,007 - 6,078,937 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C12H17orf67
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1233,107,442 - 33,125,839 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11233,104,570 - 33,125,799 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21233,931,046 - 34,090,041 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH17orf67
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11636,575,651 - 36,622,088 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660777,397,344 - 7,441,664 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH17orf67
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479511,868,118 - 11,883,823 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479511,866,373 - 11,896,382 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C17orf67
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q22(chr17:56683505-58084939)x1 copy number loss See cases [RCV000135409] Chr17:56683505..58084939 [GRCh38]
Chr17:54760866..56162300 [GRCh37]
Chr17:52115865..53517299 [NCBI36]
Chr17:17q22		 pathogenic
NM_001085430.4(C17orf67):c.109C>T (p.Arg37Ter) single nucleotide variant not specified [RCV000239313] Chr17:56814916 [GRCh38]
Chr17:54892277 [GRCh37]
Chr17:17q22		 pathogenic|uncertain significance
GRCh37/hg19 17q22(chr17:52189051-57477162)x3 copy number gain See cases [RCV000448801] Chr17:52189051..57477162 [GRCh37]
Chr17:17q22		 pathogenic
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3 copy number gain See cases [RCV000448805] Chr17:49076980..58740945 [GRCh37]
Chr17:17q21.33-23.2		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q22(chr17:54584318-55220914)x1 copy number loss not provided [RCV000683944] Chr17:54584318..55220914 [GRCh37]
Chr17:17q22		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.10:g.(?_54671585)_(59938900_?)dup duplication Familial aplasia of the vermis [RCV001923071] Chr17:54671585..59938900 [GRCh37]
Chr17:17q22-23.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:818
Count of miRNA genes:383
Interacting mature miRNAs:404
Transcripts:ENST00000397861, ENST00000397862, ENST00000487705, ENST00000570754, ENST00000575658
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 23 3 26 13 110 13 12 13 20 5 77 50 2 3 9
Low 2408 2491 1554 591 1652 436 3662 1357 3583 378 1380 1556 168 1 1194 2133 4 2
Below cutoff 8 492 146 20 184 16 681 824 130 36 3 7 5 7 645 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000397861   ⟹   ENSP00000380959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,791,913 - 56,833,920 (-)Ensembl
RefSeq Acc Id: ENST00000487705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,824,747 - 56,838,773 (-)Ensembl
RefSeq Acc Id: ENST00000570754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,791,913 - 56,795,292 (-)Ensembl
RefSeq Acc Id: NM_001085430   ⟹   NP_001078899
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,791,913 - 56,833,920 (-)NCBI
GRCh371754,869,274 - 54,911,256 (-)NCBI
Build 361752,224,273 - 52,248,249 (-)NCBI Archive
Celera1751,330,963 - 51,354,807 (-)RGD
HuRef1750,230,102 - 50,271,445 (-)NCBI
CHM1_11754,934,098 - 54,976,388 (-)NCBI
T2T-CHM13v2.01757,668,072 - 57,711,152 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001078899 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH93905 (Get FASTA)   NCBI Sequence Viewer  
  AAH93907 (Get FASTA)   NCBI Sequence Viewer  
  EAW94527 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000380959
  ENSP00000380959.2
GenBank Protein Q0P5P2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001078899   ⟸   NM_001085430
- Peptide Label: precursor
- UniProtKB: Q0P5P2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000380959   ⟸   ENST00000397861

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q0P5P2-F1-model_v2 AlphaFold Q0P5P2 1-90 view protein structure

Promoters
RGD ID:7235739
Promoter ID:EPDNEW_H23616
Type:single initiation site
Name:C17orf67_2
Description:chromosome 17 open reading frame 67
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23618  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,821,589 - 56,821,649EPDNEW
RGD ID:7235745
Promoter ID:EPDNEW_H23618
Type:initiation region
Name:C17orf67_1
Description:chromosome 17 open reading frame 67
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23616  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,833,915 - 56,833,975EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27900 AgrOrtholog
COSMIC C17orf67 COSMIC
Ensembl Genes ENSG00000214226 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000397861 ENTREZGENE
  ENST00000397861.7 UniProtKB/Swiss-Prot
GTEx ENSG00000214226 GTEx
HGNC ID HGNC:27900 ENTREZGENE
Human Proteome Map C17orf67 Human Proteome Map
InterPro DUF4543 UniProtKB/Swiss-Prot
KEGG Report hsa:339210 UniProtKB/Swiss-Prot
NCBI Gene 339210 ENTREZGENE
PANTHER HYPOTHETICAL PROTEIN LOC688126 UniProtKB/Swiss-Prot
  HYPOTHETICAL PROTEIN LOC688126 UniProtKB/Swiss-Prot
Pfam DUF4543 UniProtKB/Swiss-Prot
PharmGKB PA142672250 PharmGKB
UniProt CQ067_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE