RHCG (Rh family C glycoprotein) - Rat Genome Database

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Gene: RHCG (Rh family C glycoprotein) Homo sapiens
Analyze
Symbol: RHCG
Name: Rh family C glycoprotein
RGD ID: 1345053
HGNC Page HGNC:18140
Description: Enables several functions, including ammonium transmembrane transporter activity; ankyrin binding activity; and carbon dioxide transmembrane transporter activity. Involved in ammonium transmembrane transport; intracellular monoatomic ion homeostasis; and transepithelial ammonium transport. Located in apical plasma membrane and basolateral plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ammonium transporter Rh type C; C15orf6; PDRC2; rh family type C glycoprotein; Rh family, C glycoprotein; rh glycoprotein kidney; Rh type C glycoprotein; rhesus blood group family type C glycoprotein; Rhesus blood group, C glycoprotein; RHGK; SLC42A3; tumor-related protein DRC2
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
GRCh381589,471,407 - 89,496,583 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1589,471,398 - 89,496,589 (-)EnsemblGRCh38hg38GRCh38
GRCh371590,014,638 - 90,039,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361587,815,642 - 87,840,803 (-)NCBINCBI36Build 36hg18NCBI36
Build 341587,815,645 - 87,840,803NCBI
Celera1566,417,127 - 66,442,288 (-)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1566,127,581 - 66,152,746 (-)NCBIHuRef
CHM1_11589,855,641 - 89,880,764 (-)NCBICHM1_1
T2T-CHM13v2.01587,227,437 - 87,252,613 (-)NCBIT2T-CHM13v2.0
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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Effect of hypokalemia on renal expression of the ammonia transporter family members, Rh B Glycoprotein and Rh C Glycoprotein, in the rat kidney. Han KH, etal., Am J Physiol Renal Physiol. 2011 Oct;301(4):F823-32. doi: 10.1152/ajprenal.00266.2011. Epub 2011 Jul 13.
2. Aldosterone requires vasopressin V1a receptors on intercalated cells to mediate acid-base homeostasis. Izumi Y, etal., J Am Soc Nephrol. 2011 Apr;22(4):673-80. doi: 10.1681/ASN.2010050468. Epub 2011 Mar 17.
3. Effect of reduced renal mass on renal ammonia transporter family, Rh C glycoprotein and Rh B glycoprotein, expression. Kim HY, etal., Am J Physiol Renal Physiol. 2007 Oct;293(4):F1238-47. Epub 2007 Jul 25.
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. Renal expression of the ammonia transporters, Rhbg and Rhcg, in response to chronic metabolic acidosis. Seshadri RM, etal., Am J Physiol Renal Physiol. 2006 Feb;290(2):F397-408. Epub 2005 Sep 6.
Additional References at PubMed
PMID:1417776   PMID:10852913   PMID:11062476   PMID:12204676   PMID:12388412   PMID:12477932   PMID:12719424   PMID:12846905   PMID:14761968   PMID:15489334   PMID:15929723   PMID:16227429  
PMID:16477434   PMID:16564724   PMID:16580862   PMID:16928804   PMID:18032481   PMID:18367154   PMID:19056867   PMID:19357182   PMID:19429772   PMID:19913121   PMID:20126667   PMID:20457942  
PMID:20628086   PMID:21873635   PMID:23533145   PMID:24021113   PMID:24077989   PMID:24647713   PMID:26190573   PMID:28514442   PMID:29054531   PMID:29290801   PMID:29852177   PMID:31170090  
PMID:31756312   PMID:32296183   PMID:33961781   PMID:37664450  


Genomics

Comparative Map Data
RHCG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381589,471,407 - 89,496,583 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1589,471,398 - 89,496,589 (-)EnsemblGRCh38hg38GRCh38
GRCh371590,014,638 - 90,039,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361587,815,642 - 87,840,803 (-)NCBINCBI36Build 36hg18NCBI36
Build 341587,815,645 - 87,840,803NCBI
Celera1566,417,127 - 66,442,288 (-)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1566,127,581 - 66,152,746 (-)NCBIHuRef
CHM1_11589,855,641 - 89,880,764 (-)NCBICHM1_1
T2T-CHM13v2.01587,227,437 - 87,252,613 (-)NCBIT2T-CHM13v2.0
Rhcg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39779,243,111 - 79,267,405 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl779,243,111 - 79,267,405 (-)EnsemblGRCm39 Ensembl
GRCm38779,593,363 - 79,617,657 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl779,593,363 - 79,617,657 (-)EnsemblGRCm38mm10GRCm38
MGSCv37786,738,249 - 86,762,543 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36779,466,882 - 79,491,161 (-)NCBIMGSCv36mm8
Celera776,996,917 - 77,021,608 (-)NCBICelera
Cytogenetic Map7D2NCBI
cM Map745.09NCBI
Rhcg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81142,941,046 - 142,965,242 (-)NCBIGRCr8
mRatBN7.21133,531,704 - 133,555,902 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1133,531,716 - 133,555,876 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1141,441,386 - 141,465,168 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01148,610,769 - 148,634,552 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01141,528,475 - 141,552,260 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01141,325,854 - 141,349,881 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1141,325,856 - 141,349,881 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01142,286,922 - 142,310,949 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41135,361,418 - 135,386,461 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11135,439,824 - 135,464,867 (-)NCBI
Celera1125,594,825 - 125,618,934 (-)NCBICelera
Cytogenetic Map1q31NCBI
Rhcg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541615,639,551 - 15,654,293 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541615,639,425 - 15,657,708 (+)NCBIChiLan1.0ChiLan1.0
RHCG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21679,021,969 - 79,050,885 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11582,726,346 - 82,755,232 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01568,165,708 - 68,190,964 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11587,372,238 - 87,397,011 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1587,372,238 - 87,397,011 (-)Ensemblpanpan1.1panPan2
RHCG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1352,503,172 - 52,526,362 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl352,503,176 - 52,526,719 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha355,136,730 - 55,159,917 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0352,919,695 - 52,942,920 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl352,918,628 - 52,943,290 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1352,441,812 - 52,464,994 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0352,652,116 - 52,675,289 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0352,992,155 - 53,015,328 (-)NCBIUU_Cfam_GSD_1.0
Rhcg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640130,981,170 - 131,005,380 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648315,328,364 - 15,353,404 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648315,329,147 - 15,353,301 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RHCG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl755,046,245 - 55,071,475 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1755,046,244 - 55,071,504 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2760,022,002 - 60,039,452 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RHCG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1298,015,391 - 8,040,811 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl298,015,620 - 8,040,486 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605938,774,862 - 38,799,656 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rhcg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476816,623,599 - 16,644,189 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476816,623,667 - 16,644,149 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RHCG
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
NM_016321.2(RHCG):c.522+1013C>A single nucleotide variant Lung cancer [RCV000099750] Chr15:89482054 [GRCh38]
Chr15:90025285 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 copy number loss See cases [RCV000448680] Chr15:88295992..94215607 [GRCh37]
Chr15:15q25.3-26.1
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 copy number gain See cases [RCV000511629] Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3
likely pathogenic
NM_016321.3(RHCG):c.605G>A (p.Arg202His) single nucleotide variant Inborn genetic diseases [RCV003270788] Chr15:89480326 [GRCh38]
Chr15:90023557 [GRCh37]
Chr15:15q26.1
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_016321.3(RHCG):c.37C>T (p.Leu13Phe) single nucleotide variant Inborn genetic diseases [RCV003268020] Chr15:89496508 [GRCh38]
Chr15:90039739 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
NM_016321.3(RHCG):c.1183A>G (p.Ile395Val) single nucleotide variant Inborn genetic diseases [RCV003273750] Chr15:89477136 [GRCh38]
Chr15:90020367 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1 copy number loss not provided [RCV001795547] Chr15:88465861..94411846 [GRCh37]
Chr15:15q25.3-26.2
pathogenic
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1 copy number loss not provided [RCV001827973] Chr15:89520451..93926491 [GRCh37]
Chr15:15q26.1
pathogenic
NC_000015.9:g.(?_89859982)_(90294462_?)dup duplication not provided [RCV001980109] Chr15:89859982..90294462 [GRCh37]
Chr15:15q26.1
uncertain significance
NC_000015.9:g.(?_89379429)_(91565479_?)dup duplication D-2-hydroxyglutaric aciduria 2 [RCV003111027]|not provided [RCV003111026] Chr15:89379429..91565479 [GRCh37]
Chr15:15q26.1
uncertain significance|no classifications from unflagged records
NM_016321.3(RHCG):c.1147G>A (p.Gly383Arg) single nucleotide variant Inborn genetic diseases [RCV002990287] Chr15:89477172 [GRCh38]
Chr15:90020403 [GRCh37]
Chr15:15q26.1
likely benign
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
NM_016321.3(RHCG):c.940G>A (p.Gly314Ser) single nucleotide variant Inborn genetic diseases [RCV002990076] Chr15:89477872 [GRCh38]
Chr15:90021103 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.1326C>G (p.Asn442Lys) single nucleotide variant Inborn genetic diseases [RCV002858746] Chr15:89472849 [GRCh38]
Chr15:90016080 [GRCh37]
Chr15:15q26.1
likely benign
NM_016321.3(RHCG):c.1255C>T (p.Pro419Ser) single nucleotide variant Inborn genetic diseases [RCV002864415] Chr15:89476811 [GRCh38]
Chr15:90020042 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.583G>A (p.Val195Met) single nucleotide variant Inborn genetic diseases [RCV002759370] Chr15:89480348 [GRCh38]
Chr15:90023579 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.1355C>T (p.Thr452Ile) single nucleotide variant Inborn genetic diseases [RCV002784219] Chr15:89472820 [GRCh38]
Chr15:90016051 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.1012T>G (p.Cys338Gly) single nucleotide variant Inborn genetic diseases [RCV002641424] Chr15:89477617 [GRCh38]
Chr15:90020848 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.946A>G (p.Ile316Val) single nucleotide variant Inborn genetic diseases [RCV002698828] Chr15:89477866 [GRCh38]
Chr15:90021097 [GRCh37]
Chr15:15q26.1
likely benign
NM_016321.3(RHCG):c.142A>G (p.Asn48Asp) single nucleotide variant Inborn genetic diseases [RCV002788477] Chr15:89496403 [GRCh38]
Chr15:90039634 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.14C>T (p.Thr5Ile) single nucleotide variant Inborn genetic diseases [RCV002641904] Chr15:89496531 [GRCh38]
Chr15:90039762 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.1138G>A (p.Gly380Ser) single nucleotide variant Inborn genetic diseases [RCV002931793] Chr15:89477181 [GRCh38]
Chr15:90020412 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.1039C>T (p.Pro347Ser) single nucleotide variant Inborn genetic diseases [RCV002743019] Chr15:89477590 [GRCh38]
Chr15:90020821 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.607A>C (p.Asn203His) single nucleotide variant Inborn genetic diseases [RCV002930561] Chr15:89480324 [GRCh38]
Chr15:90023555 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.877G>T (p.Val293Leu) single nucleotide variant Inborn genetic diseases [RCV002744300] Chr15:89477935 [GRCh38]
Chr15:90021166 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.274A>G (p.Asn92Asp) single nucleotide variant Inborn genetic diseases [RCV002669125] Chr15:89486896 [GRCh38]
Chr15:90030127 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.220T>C (p.Phe74Leu) single nucleotide variant Inborn genetic diseases [RCV002718728] Chr15:89486950 [GRCh38]
Chr15:90030181 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.887C>T (p.Ala296Val) single nucleotide variant Inborn genetic diseases [RCV002655273] Chr15:89477925 [GRCh38]
Chr15:90021156 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.173A>G (p.Tyr58Cys) single nucleotide variant Inborn genetic diseases [RCV002655604] Chr15:89496372 [GRCh38]
Chr15:90039603 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.191A>G (p.Gln64Arg) single nucleotide variant Inborn genetic diseases [RCV003211670] Chr15:89486979 [GRCh38]
Chr15:90030210 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_016321.3(RHCG):c.1421C>T (p.Ser474Leu) single nucleotide variant Inborn genetic diseases [RCV003196448] Chr15:89472754 [GRCh38]
Chr15:90015985 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 copy number gain not provided [RCV003222840] Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1
pathogenic
NM_016321.3(RHCG):c.89T>C (p.Val30Ala) single nucleotide variant Inborn genetic diseases [RCV003173189] Chr15:89496456 [GRCh38]
Chr15:90039687 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3
pathogenic
NM_016321.3(RHCG):c.1265G>T (p.Gly422Val) single nucleotide variant Inborn genetic diseases [RCV003349078] Chr15:89476801 [GRCh38]
Chr15:90020032 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q26.1(chr15:89976407-90387346)x1 copy number loss not provided [RCV003483247] Chr15:89976407..90387346 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q26.1(chr15:89587464-90219354)x1 copy number loss not provided [RCV003483246] Chr15:89587464..90219354 [GRCh37]
Chr15:15q26.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2620
Count of miRNA genes:848
Interacting mature miRNAs:1014
Transcripts:ENST00000268122, ENST00000544600, ENST00000558030, ENST00000558184, ENST00000558360, ENST00000559638, ENST00000560081
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.

Markers in Region
RH102085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,014,794 - 90,014,948UniSTSGRCh37
Build 361587,815,798 - 87,815,952RGDNCBI36
Celera1566,417,283 - 66,417,437RGD
Cytogenetic Map15q25UniSTS
HuRef1566,127,737 - 66,127,891UniSTS
SHGC-144446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,038,314 - 90,038,588UniSTSGRCh37
Build 361587,839,318 - 87,839,592RGDNCBI36
Celera1566,440,803 - 66,441,077RGD
Cytogenetic Map15q25UniSTS
HuRef1566,151,261 - 66,151,535UniSTS
TNG Radiation Hybrid Map1536165.0UniSTS
D15S1441E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,023,120 - 90,023,210UniSTSGRCh37
Build 361587,824,124 - 87,824,214RGDNCBI36
Celera1566,425,609 - 66,425,699RGD
HuRef1566,136,063 - 66,136,153UniSTS
D15S1444E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,023,378 - 90,023,485UniSTSGRCh37
Build 361587,824,382 - 87,824,489RGDNCBI36
Celera1566,425,867 - 66,425,974RGD
HuRef1566,136,321 - 66,136,428UniSTS


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 3 28 2 24 103 29
Medium 137 21 51 128 11 9 907 129 39 175 100 47 123 33 486 1
Low 1380 1202 976 227 555 212 1553 887 3008 69 980 704 21 1 668 872 1 1
Below cutoff 839 1459 554 188 814 189 1625 1030 597 96 220 664 2 487 1197 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001321041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF081497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF185277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF193809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF284446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY257182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC306265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000268122   ⟹   ENSP00000268122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1589,471,407 - 89,496,583 (-)Ensembl
RefSeq Acc Id: ENST00000558030   ⟹   ENSP00000452899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1589,471,757 - 89,496,582 (-)Ensembl
RefSeq Acc Id: ENST00000558184   ⟹   ENSP00000453716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1589,477,728 - 89,496,589 (-)Ensembl
RefSeq Acc Id: ENST00000558360   ⟹   ENSP00000453496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1589,471,445 - 89,479,430 (-)Ensembl
RefSeq Acc Id: ENST00000559638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1589,477,799 - 89,479,736 (-)Ensembl
RefSeq Acc Id: ENST00000560081   ⟹   ENSP00000453588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1589,471,398 - 89,496,571 (-)Ensembl
RefSeq Acc Id: ENST00000649642   ⟹   ENSP00000497611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1589,471,424 - 89,496,583 (-)Ensembl
RefSeq Acc Id: NM_001321041   ⟹   NP_001307970
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,471,407 - 89,496,583 (-)NCBI
CHM1_11589,855,641 - 89,880,779 (-)NCBI
T2T-CHM13v2.01587,227,437 - 87,252,613 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016321   ⟹   NP_057405
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,471,407 - 89,496,583 (-)NCBI
GRCh371590,014,638 - 90,039,799 (-)ENTREZGENE
Build 361587,815,642 - 87,840,803 (-)NCBI Archive
HuRef1566,127,581 - 66,152,791 (-)NCBI
CHM1_11589,855,641 - 89,880,809 (-)NCBI
T2T-CHM13v2.01587,227,437 - 87,252,613 (-)NCBI
Sequence:
RefSeq Acc Id: NR_110261
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,471,407 - 89,496,583 (-)NCBI
HuRef1566,127,581 - 66,152,791 (-)NCBI
CHM1_11589,855,641 - 89,880,809 (-)NCBI
T2T-CHM13v2.01587,227,437 - 87,252,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432651   ⟹   XP_047288607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,471,407 - 89,496,583 (-)NCBI
RefSeq Acc Id: XM_054378166   ⟹   XP_054234141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01587,227,437 - 87,252,613 (-)NCBI
RefSeq Acc Id: NP_057405   ⟸   NM_016321
- UniProtKB: Q6X3Y4 (UniProtKB/Swiss-Prot),   Q9UBD6 (UniProtKB/Swiss-Prot),   A8K4D4 (UniProtKB/Swiss-Prot),   B4DPA5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307970   ⟸   NM_001321041
- UniProtKB: Q6X3Y4 (UniProtKB/Swiss-Prot),   A8K4D4 (UniProtKB/Swiss-Prot),   Q9UBD6 (UniProtKB/Swiss-Prot),   B4DPA5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497611   ⟸   ENST00000649642
RefSeq Acc Id: ENSP00000268122   ⟸   ENST00000268122
RefSeq Acc Id: ENSP00000453716   ⟸   ENST00000558184
RefSeq Acc Id: ENSP00000452899   ⟸   ENST00000558030
RefSeq Acc Id: ENSP00000453496   ⟸   ENST00000558360
RefSeq Acc Id: ENSP00000453588   ⟸   ENST00000560081
RefSeq Acc Id: XP_047288607   ⟸   XM_047432651
- Peptide Label: isoform X1
- UniProtKB: Q6X3Y4 (UniProtKB/Swiss-Prot),   Q9UBD6 (UniProtKB/Swiss-Prot),   A8K4D4 (UniProtKB/Swiss-Prot),   B4DPA5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234141   ⟸   XM_054378166
- Peptide Label: isoform X1
- UniProtKB: Q6X3Y4 (UniProtKB/Swiss-Prot),   Q9UBD6 (UniProtKB/Swiss-Prot),   A8K4D4 (UniProtKB/Swiss-Prot),   B4DPA5 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UBD6-F1-model_v2 AlphaFold Q9UBD6 1-479 view protein structure

Promoters
RGD ID:7230467
Promoter ID:EPDNEW_H20979
Type:multiple initiation site
Name:RHCG_1
Description:Rh family C glycoprotein
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
GRCh381589,496,583 - 89,496,643EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18140 AgrOrtholog
COSMIC RHCG COSMIC
Ensembl Genes ENSG00000140519 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000268122 ENTREZGENE
  ENST00000268122.9 UniProtKB/Swiss-Prot
  ENST00000558030.5 UniProtKB/TrEMBL
  ENST00000558184.1 UniProtKB/TrEMBL
  ENST00000558360.1 UniProtKB/TrEMBL
  ENST00000560081 ENTREZGENE
  ENST00000560081.5 UniProtKB/TrEMBL
  ENST00000649642.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.3430.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140519 GTEx
HGNC ID HGNC:18140 ENTREZGENE
Human Proteome Map RHCG Human Proteome Map
InterPro Ammonium/urea_transptr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NH4_transpt_AmtB-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhesusRHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51458 UniProtKB/Swiss-Prot
NCBI Gene 51458 ENTREZGENE
OMIM 605381 OMIM
PANTHER AMMONIUM TRANSPORTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMMONIUM TRANSPORTER RH TYPE C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ammonium_transp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134876043 PharmGKB
PRINTS RHESUSRHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Ammonium transporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IT41_HUMAN UniProtKB/TrEMBL
  A8K4D4 ENTREZGENE
  B4DPA5 ENTREZGENE, UniProtKB/TrEMBL
  H0YKQ3_HUMAN UniProtKB/TrEMBL
  H0YM79_HUMAN UniProtKB/TrEMBL
  H0YMF8_HUMAN UniProtKB/TrEMBL
  H0YMS1_HUMAN UniProtKB/TrEMBL
  Q6X3Y4 ENTREZGENE
  Q9UBD6 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K4D4 UniProtKB/Swiss-Prot
  Q6X3Y4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 RHCG  Rh family C glycoprotein    Rh family, C glycoprotein  Symbol and/or name change 5135510 APPROVED