Aliases for RHCG Gene

Aliases for RHCG Gene

  • Rh Family C Glycoprotein 2 3 5
  • Rhesus Blood Group Family Type C Glycoprotein 3 4
  • Rhesus Blood Group, C Glycoprotein 2 3
  • Ammonium Transporter Rh Type C 3 4
  • Rh Family Type C Glycoprotein 3 4
  • Tumor-Related Protein DRC2 3 4
  • Rh Glycoprotein Kidney 3 4
  • Rh Type C Glycoprotein 3 4
  • C15orf6 3 4
  • PDRC2 3 4
  • RHGK 3 4
  • Chromosome 15 Open Reading Frame 6 2
  • SLC42A3 3
  • CDRC2 4

External Ids for RHCG Gene

Previous HGNC Symbols for RHCG Gene

  • C15orf6

Previous GeneCards Identifiers for RHCG Gene

  • GC15M086419
  • GC15M083380
  • GC15M087601
  • GC15M087744
  • GC15M087815
  • GC15M090014
  • GC15M066127

Summaries for RHCG Gene

GeneCards Summary for RHCG Gene

RHCG (Rh Family C Glycoprotein) is a Protein Coding gene. Diseases associated with RHCG include Retinohepatoendocrinologic Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include ankyrin binding and ammonium transmembrane transporter activity. An important paralog of this gene is RHBG.

UniProtKB/Swiss-Prot Summary for RHCG Gene

  • Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion.

Gene Wiki entry for RHCG Gene

Additional gene information for RHCG Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHCG Gene

Genomics for RHCG Gene

GeneHancer (GH) Regulatory Elements for RHCG Gene

Promoters and enhancers for RHCG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J089495 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 750.6 +0.2 212 0.8 SIN3A RBPJ USF2 L3MBTL2 MNT POLR2A ELF3 AHR CREB1 ATF1 RHCG ENSG00000173867 POLG HSALNG0108036
GH15J089498 Enhancer 1.1 ENCODE dbSUPER 750.6 -1.8 -1802 0.2 SIN3A MNT ZNF280D BCL6B ZBTB33 SP7 ZSCAN21 GLIS2 ZIC2 CREB1 RHCG ENSG00000261478
GH15J089529 Enhancer 0.3 dbSUPER 13.3 -34.7 -34698 2.7 ZFP37 RHCG PLIN1 FANCI GDPGP1 HSALNG0108049 piR-59769-220 ENSG00000259713
GH15J089551 Enhancer 1 FANTOM5 Ensembl dbSUPER 3.9 -55.0 -54988 0.8 ZNF24 CREM IKZF1 IKZF2 DPF2 EED RUNX3 NR2F1 JUNB NBN KIF7 RHCG piR-59769-220 lnc-KIF7-4 ENSG00000259713
GH15J089512 Enhancer 0.7 FANTOM5 ENCODE dbSUPER 5.2 -16.8 -16820 1 ZNF658 RHCG ENSG00000261478 ENSG00000259713 LINC00928
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RHCG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RHCG gene promoter:
  • AhR
  • Arnt
  • E47
  • Ik-3
  • IRF-7A
  • MIF-1
  • MZF-1
  • NF-Y
  • Tal-1beta

Genomic Locations for RHCG Gene

Genomic Locations for RHCG Gene
chr15:89,471,398-89,496,613
(GRCh38/hg38)
Size:
25,216 bases
Orientation:
Minus strand
chr15:89,998,680-90,039,844
(GRCh37/hg19)
Size:
41,165 bases
Orientation:
Minus strand

Genomic View for RHCG Gene

Genes around RHCG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHCG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHCG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHCG Gene

Proteins for RHCG Gene

  • Protein details for RHCG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBD6-RHCG_HUMAN
    Recommended name:
    Ammonium transporter Rh type C
    Protein Accession:
    Q9UBD6
    Secondary Accessions:
    • A8K4D4
    • Q6X3Y4

    Protein attributes for RHCG Gene

    Size:
    479 amino acids
    Molecular mass:
    53179 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for RHCG Gene

neXtProt entry for RHCG Gene

Post-translational modifications for RHCG Gene

Other Protein References for RHCG Gene

No data available for DME Specific Peptides for RHCG Gene

Domains & Families for RHCG Gene

Gene Families for RHCG Gene

Suggested Antigen Peptide Sequences for RHCG Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93743, Homo sapiens Rhesus blood group, C glycoprotein (RHCG), mRNA (A8K4D4_HUMAN)
  • Tumor-related protein DRC2 (RHCG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBD6

UniProtKB/Swiss-Prot:

RHCG_HUMAN :
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
Family:
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
genes like me logo Genes that share domains with RHCG: view

Function for RHCG Gene

Molecular function for RHCG Gene

UniProtKB/Swiss-Prot Function:
Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion.

Phenotypes From GWAS Catalog for RHCG Gene

Gene Ontology (GO) - Molecular Function for RHCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008519 ammonium transmembrane transporter activity IEA,TAS --
GO:0030506 ankyrin binding IDA 12719424
GO:0042802 identical protein binding IPI 20457942
genes like me logo Genes that share ontologies with RHCG: view
genes like me logo Genes that share phenotypes with RHCG: view

Animal Models for RHCG Gene

MGI Knock Outs for RHCG:

Animal Model Products

  • Taconic Biosciences Mouse Models for RHCG

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHCG

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHCG Gene

Localization for RHCG Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHCG Gene

Apical cell membrane; Multi-pass membrane protein. Note=Also detected at the basolateral membrane and in subapical vesicles. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHCG gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for RHCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,IDA 10852913
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IDA 16928804
genes like me logo Genes that share ontologies with RHCG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RHCG Gene

Pathways & Interactions for RHCG Gene

genes like me logo Genes that share pathways with RHCG: view

Interacting Proteins for RHCG Gene

Gene Ontology (GO) - Biological Process for RHCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006873 cellular ion homeostasis IDA 14761968
GO:0006885 regulation of pH IEA --
GO:0015696 ammonium transport IEA,IGI 11062476
GO:0015837 amine transport NAS 10852913
GO:0030855 epithelial cell differentiation NAS 12204676
genes like me logo Genes that share ontologies with RHCG: view

No data available for SIGNOR curated interactions for RHCG Gene

Drugs & Compounds for RHCG Gene

(4) Drugs for RHCG Gene - From: DrugBank, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia N-13 Approved Pharma Transporter 0
Ammonia Approved Pharma 0
[<sup>14</sup>C]methylamine Pharma 0

(2) Additional Compounds for RHCG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RHCG: view

Transcripts for RHCG Gene

mRNA/cDNA for RHCG Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHCG

Alternative Splicing Database (ASD) splice patterns (SP) for RHCG Gene

No ASD Table

Relevant External Links for RHCG Gene

GeneLoc Exon Structure for
RHCG
ECgene alternative splicing isoforms for
RHCG

Expression for RHCG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHCG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RHCG Gene

This gene is overexpressed in Esophagus - Mucosa (x29.3), Vagina (x10.4), Cervix - Ectocervix (x6.6), and Minor Salivary Gland (x5.4).

Protein differential expression in normal tissues from HIPED for RHCG Gene

This gene is overexpressed in Cervix (21.5), Saliva (18.0), Urine (17.2), and Esophagus (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RHCG Gene



Protein tissue co-expression partners for RHCG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RHCG Gene:

RHCG

SOURCE GeneReport for Unigene cluster for RHCG Gene:

Hs.459284

mRNA Expression by UniProt/SwissProt for RHCG Gene:

Q9UBD6-RHCG_HUMAN
Tissue specificity: Expressed in brain, testis, placenta, pancreas, esophagus and prostate. Expressed in squamous epithelial tissues (at protein level). According to PubMed:11062476, specifically expressed in kidney.

Evidence on tissue expression from TISSUES for RHCG Gene

  • Kidney(4.6)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with RHCG: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RHCG Gene

Orthologs for RHCG Gene

This gene was present in the common ancestor of animals.

Orthologs for RHCG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHCG 33 32
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RHCG 33 32
  • 85.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RHCG 33 32
  • 83.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhcg 32
  • 81.7 (n)
mouse
(Mus musculus)
Mammalia Rhcg 17 33 32
  • 81.42 (n)
oppossum
(Monodelphis domestica)
Mammalia RHCG 33
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHCG 33
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves RHCG 33 32
  • 73.09 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RHCG 33
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhcg 32
  • 64.51 (n)
zebrafish
(Danio rerio)
Actinopterygii rhcga 33 32
  • 67.12 (n)
OneToMany
rhcgb 33
  • 62 (a)
OneToMany
rhcgl1 33
  • 62 (a)
OneToMany
wufj85f07 32
fruit fly
(Drosophila melanogaster)
Insecta Rh50 33 34
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rhr-1 33 34
  • 38 (a)
ManyToMany
rhr-2 33 34
  • 37 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7075 33
  • 46 (a)
ManyToMany
-- 33
  • 45 (a)
ManyToMany
CSA.7848 33
  • 42 (a)
ManyToMany
Cin.13103 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13103 32
Species where no ortholog for RHCG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RHCG Gene

ENSEMBL:
Gene Tree for RHCG (if available)
TreeFam:
Gene Tree for RHCG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RHCG: view image

Paralogs for RHCG Gene

Paralogs for RHCG Gene

(10) SIMAP similar genes for RHCG Gene using alignment to 6 proteins:

  • RHCG_HUMAN
  • F5H0A6_HUMAN
  • H0YKQ3_HUMAN
  • H0YM79_HUMAN
  • H0YMF8_HUMAN
  • H0YMS1_HUMAN
genes like me logo Genes that share paralogs with RHCG: view

Variants for RHCG Gene

Sequence variations from dbSNP and Humsavar for RHCG Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000104218 -- 89,475,967(-) T/C intron_variant
rs1000147307 -- 89,493,455(-) G/A intron_variant
rs1000152735 -- 89,474,432(-) C/T intron_variant
rs1000171442 -- 89,477,202(-) C/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000242882 -- 89,497,657(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RHCG Gene

Variant ID Type Subtype PubMed ID
esv2750003 CNV deletion 23290073
esv34025 CNV loss 18971310
nsv1038140 CNV gain 25217958
nsv1141668 CNV deletion 24896259
nsv1150344 CNV deletion 26484159
nsv457245 CNV loss 19166990
nsv570386 CNV loss 21841781

Variation tolerance for RHCG Gene

Residual Variation Intolerance Score: 49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.67; 72.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHCG Gene

Human Gene Mutation Database (HGMD)
RHCG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHCG

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHCG Gene

Disorders for RHCG Gene

MalaCards: The human disease database

(1) MalaCards diseases for RHCG Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinohepatoendocrinologic syndrome
  • rhe syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RHCG in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RHCG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RHCG: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHCG Gene

Publications for RHCG Gene

  1. Function of human Rh based on structure of RhCG at 2.1 A. (PMID: 20457942) Gruswitz F … Stroud RM (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 23 56
  2. Structural involvement in substrate recognition of an essential aspartate residue conserved in Mep/Amt and Rh-type ammonium transporters. (PMID: 16477434) Marini AM … André B (Current genetics 2006) 3 4 23 56
  3. Ammonium transport properties of HEK293 cells expressing RhCG mutants: preliminary analysis of structure/function by site-directed mutagenesis. (PMID: 16580862) Zidi-Yahiaoui N … Mouro-Chanteloup I (Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2006) 3 4 23 56
  4. NH3 is involved in the NH4+ transport induced by the functional expression of the human Rh C glycoprotein. (PMID: 14761968) Bakouh N … Planelles G (The Journal of biological chemistry 2004) 3 4 23 56
  5. RhCG is downregulated in oesophageal squamous cell carcinomas, but expressed in multiple squamous epithelia. (PMID: 12204676) Chen BS … Wang MR (European journal of cancer (Oxford, England : 1990) 2002) 3 4 23 56

Products for RHCG Gene

Sources for RHCG Gene