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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TCIRG1 Gene

protein-coding   GIFtS: 65
GCID: GC11P067806

T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal...

(Previous names: T-cell, immune regulator 1, T-cell, immune regulator 1,...)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0
Subunit A31 2
     Stv12
OC1162 3 5     Vph12
TIRC72 3 5     a32
T-Cell Immune Response CDNA 71 2     ATPase, H+ Transporting, 116kD2
Osteoclastic Proton Pump 116 KDa Subunit2 3     Specific 116-KDa Vacuolar Proton Pump Subunit2
ATP6N1C2 3     T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein
A2
ATP6V0A32 3     V-ATPase 116-KDa2
OC-116 KDa2 3     V-Type Proton ATPase 116 KDa Subunit A2
OPTB12 5     V-Type Proton ATPase 116 KDa Subunit A Isoform 32
T-Cell, Immune Regulator 11     Vacuolar Proton Translocating ATPase 116 KDa Subunit A2
T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein
A Isoform 31
     T-Cell Immune Regulator 13
T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein
A31
     T-Cell Immune Response CDNA7 Protein3
Atp6i2     V-ATPase 116 KDa Isoform A33
OC-116kDa2     Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 33

External Ids:    HGNC: 116471   Entrez Gene: 103122   Ensembl: ENSG000001107197   OMIM: 6045925   UniProtKB: Q134883   

Export aliases for TCIRG1 gene to outside databases

Previous GC identifers: GC11P070329 GC11P069502 GC11P068056 GC11P067581 GC11P067563 GC11P064141


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TCIRG1 Gene:
Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase
(V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that
mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is
necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated
endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene
are associated with infantile malignant osteopetrosis. (provided by RefSeq, Jul 2008)

GeneCards Summary for TCIRG1 Gene: 
TCIRG1 (T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3) is a protein-coding gene. Diseases associated with TCIRG1 include osteopetrosis, recessive 1, and tcirg1-related autosomal recessive osteopetrosis, and among its related super-pathways are Insulin receptor recycling and Insulin receptor signalling cascade. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and transporter activity. An important paralog of this gene is ATP6V0A2.

UniProtKB/Swiss-Prot: VPP3_HUMAN, Q13488
Function: Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell
activation

Gene Wiki entry for TCIRG1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TCIRG1 gene promoter:
         p53   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCIRG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TCIRG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCIRG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.2   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.2

TCIRG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCIRG1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P067806:  view genomic region     (about GC identifiers)

Start:
67,806,462 bp from pter      End:
67,818,366 bp from pter
Size:
11,905 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VPP3_HUMAN, Q13488 (See protein sequence)
Recommended Name: V-type proton ATPase 116 kDa subunit a isoform 3  
Size: 830 amino acids; 92968 Da
Subunit: The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a
membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector
comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''
Subcellular location: Membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: O75877 Q8WVC5
Alternative splicing: 2 isoforms:  Q13488-1   Q13488-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TCIRG1: NX_Q13488

Explore proteomics data for TCIRG1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13488

  • TCIRG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TCIRG1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_006010.2  NP_006044.1  

    ENSEMBL proteins: 
     ENSP00000265686   ENSP00000431174   ENSP00000432846   ENSP00000435023   ENSP00000434407  
     ENSP00000431437   ENSP00000436082   ENSP00000432957  
    Reactome Protein details: Q13488
    Human Recombinant Protein Products for TCIRG1: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for TCIRG1 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000220vacuolar proton-transporting V-type ATPase, V0 domain IEA--
    GO:0005739mitochondrion IEA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005886plasma membrane TAS9806637
    GO:0005887integral to plasma membrane TAS10329006

    TCIRG1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    VATP: ATPases / V-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: a3 
    V-type ATPase

    2 InterPro protein domains:
     IPR026028 V-type_ATPase_116kDa_su_euka
     IPR002490 V-ATPase_116kDa_su

    Graphical View of Domain Structure for InterPro Entry Q13488

    ProtoNet protein and cluster: Q13488

    1 Blocks protein domain: IPB002490 V-type ATPase

    UniProtKB/Swiss-Prot: VPP3_HUMAN, Q13488
    Similarity: Belongs to the V-ATPase 116 kDa subunit family


    TCIRG1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VPP3_HUMAN, Q13488
    Function: Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell
    activation

         Genatlas biochemistry entry for TCIRG1:
    T cell membrane protein essential for T cell activation,expressed in lymphocytes,with an alternative transcript
    OC116 (see symbol)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS8579597
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
         
    TCIRG1 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Tcirg1):
     behavior/neurological  cellular  craniofacial  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging 
     no phenotypic analysis  normal  skeleton 

    TCIRG1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TCIRG1: Tcirg1tm1Ypl Tcirg1tm1.2Ywd Tcirg1tm1Utku

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TCIRG1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TCIRG1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.79
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Transferrin endocytosis and recycling0.79
    Phagosomal maturation (early endosomal stage)0.64
    Iron uptake and transport0.69
    Vibrio cholerae infection0.41
    Collecting duct acid secretion0.68
    Epithelial cell signaling in Helicobacter pylori infection0.33
    2IRS-related events
    Signaling by Insulin receptor0.79
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.55
    5SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/9        Reactome Pathways for TCIRG1 (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/10         Kegg Pathways  (Kegg details for TCIRG1) (see all 10):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle


    TCIRG1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TCIRG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/60 Interacting proteins for TCIRG1 (ENSP000002656864) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V0A1ENSP000002646494STRING: ENSP00000264649
    ATP6V0A2ENSP000003322474STRING: ENSP00000332247
    ATP6V0A4ENSP000002538564STRING: ENSP00000253856
    ATP6V0E1ENSP000002650934STRING: ENSP00000265093
    ATP6V1HENSP000003525224STRING: ENSP00000352522
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0006968cellular defense response TAS9806637
    GO:0008284positive regulation of cell proliferation TAS9806637
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--

    TCIRG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TCIRG1 (VPP3)

    4 HMDB Compounds for TCIRG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about TCIRG1 / VPP3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TCIRG1 gene (2 alternative transcripts): 
    NM_006019.3  NM_006053.3  

    Unigene Cluster for TCIRG1:

    T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
    Hs.495985  [show with all ESTs]
    Unigene Representative Sequence: NM_006019
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265686(uc001one.3) ENST00000534673 ENST00000524598 ENST00000529657(uc001ond.2 uc001onf.1)
    ENST00000533947 ENST00000532635(uc001ong.3 uc009ysd.3) ENST00000527530
    ENST00000529364 ENST00000525724 ENST00000528981(uc021qmm.1) ENST00000533005
    ENST00000525516 ENST00000524870 ENST00000530063 ENST00000530449 ENST00000530802

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF025374.1 AF497545.1 AY548967.1 AY548968.1 AY548969.1 AY548970.1 AY548971.1 AY548972.1 
    AY708388.1 AY708389.1 AY708390.1 AY708391.1 BC018133.1 BC032465.1 U45285.1 

    17 DOTS entries:

    DT.212181  DT.91757392  DT.95352539  DT.95352542  DT.91676612  DT.97824970  DT.91842124  DT.100871386 
    DT.91757395  DT.100045713  DT.99932586  DT.100663885  DT.100810706  DT.95352543  DT.100862626  DT.120713102 
    DT.95352541 

    24/261 AceView cDNA sequences (see all 261):

    AI308772 BQ083991 BC032465 AA625923 BQ081999 AY708389 BQ083933 T86542 
    AK057093 BU732254 AY548969 AI950904 AY548971 CK429795 BG434897 BM920218 
    CD722370 BF917352 AY708390 CA425567 AW204044 BF224014 BU631560 BX332189 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for TCIRG1 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^
    SP1:                    -                                         -     -           -           -     -           -                             -               
    SP2:                                                                                -           -     -           -                             -               
    SP3:                                -                             -     -           -           -     -                                                         
    SP4:                                                              -     -     -     -           -     -           -                                             
    SP5:                                                                                -           -     -           -                 -           -               

    ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
    SP1:                          -                                                     -                     
    SP2:                          -                                                     -                     
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for TCIRG1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TCIRG1 expression in normal human tissues (normalized intensities)      TCIRG1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGATGCGCA
    TCIRG1 Expression
    About this image


    TCIRG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Bone (Muscoskeletal System)
             BONE MARROW   
     
     Blood (Muscoskeletal System)
             BONE MARROW   

    See TCIRG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TCIRG1

    SOURCE GeneReport for Unigene cluster: Hs.495985

    UniProtKB/Swiss-Prot: VPP3_HUMAN, Q13488
    Tissue specificity: Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in
    thymus

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TCIRG1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tcirg11 , 5 T cell, immune regulator 1, ATPase, H+ transporting, more1, 5 83.19(n)1
    84.68(a)1
      19 (3.62 cM)5
    270601  NM_001136091.21  NP_001129563.11 
     38960505 
    chicken
    (Gallus gallus)
    Aves TCIRG11 T-cell, immune regulator 1, ATPase, H+ transporting, more 72.2(n)
    66.1(a)
      395472  NM_204722.1  NP_990053.1 
    lizard
    (Anolis carolinensis)
    Reptilia TCIRG16
    T-cell, immune regulator 1, ATPase, H+ transportin...
    61(a)
    1 ↔ 1
    1(93415903-93436466)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.38042 Danio rerio mRNA similar to T-cell, immune regulator more 76.03(n)    BC045484.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha100-36
    Vacuolar H[+] ATPase subunit 100-3
    31(a)
    possible ortholog
    2R(14796505-14799219)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPH16
    STV16
    Subunit a of vacuolar-ATPase V0 domain, one of two...
    Subunit a of the vacuolar-ATPase V0 domain, one of...
    34(a)
    31(a)
    many ↔ many
    many ↔ many
    XV(828052-830574)
    XIII(383303-385975)
    wheat
    (Triticum aestivum)
    Liliopsida BQ281580.12   -- 75.77(n)    BQ281580.1 


    ENSEMBL Gene Tree for TCIRG1 (if available)
    TreeFam Gene Tree for TCIRG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TCIRG1 gene
    ATP6V0A22  ATP6V0A42  ATP6V0A12  
    5 SIMAP similar genes for TCIRG1 using alignment to 13 protein entries:     VPP3_HUMAN (see all proteins):
    DKFZp781J1951    ATP6V0A1    DKFZp686N0561    ATP6V0A2    ATP6V0A4

    TCIRG1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/446 SNPs in TCIRG1 are shown (see all 446)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0195694
    Osteopetrosis, autosomal recessive 1 (OPTB1)4--see VAR_0195692 G R mis40--------
    VAR_0209914
    Osteopetrosis, autosomal recessive 1 (OPTB1)4--see VAR_0209912 P R mis40--------
    VAR_0209884
    Osteopetrosis, autosomal recessive 1 (OPTB1)4--see VAR_0209882 A P mis40--------
    VAR_0209904
    Osteopetrosis, autosomal recessive 1 (OPTB1)4--see VAR_0209902 D N mis40--------
    VAR_0195704
    Osteopetrosis, autosomal recessive 1 (OPTB1)4--see VAR_0195702 R L mis40--------
    rs1920275191,2
    --67726127(+) CAGGCC/TGGGGC 1 -- us2k10--------
    rs41477781,2
    C,F,A,H--67726221(+) TGCGTA/CCAGCC 1 -- us2k117Minor allele frequency- C:0.25NA EA WA CSA 741
    rs772038911,2
    C,F--67726222(+) GCGTCC/TAGCCA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1835227281,2
    --67726251(+) CCCTAC/TGCCAG 1 -- us2k10--------
    rs1509517911,2
    --67726276(+) CACTGC/TTCACC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TCIRG1 (67806462 - 67818366 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for TCIRG1 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1208n71CNV Loss21882294
    nsv897855CNV Loss21882294
    nsv469964CNV Loss18288195
    dgv1203n71CNV Loss21882294
    dgv1207n71CNV Loss21882294
    nsv468615CNV Loss19166990
    dgv1204n71CNV Loss21882294
    nsv825963CNV Gain20364138
    nsv8836CNV Gain18304495
    nsv897852CNV Gain21882294


    Human Gene Mutation Database (HGMD): TCIRG1

    Locus Specific Mutation Databases (LSDB): TCIRG1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604592   
    OMIM disorders: 259700  
    UniProtKB/Swiss-Prot: VPP3_HUMAN, Q13488
  • Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]: A rare genetic disease characterized by
    abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe
    autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form
    occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with
    macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and
    hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for TCIRG1:    About MalaCards
    osteopetrosis, recessive 1    tcirg1-related autosomal recessive osteopetrosis    osteopetrosis    renal tubular acidosis
    pulmonary tuberculosis    optic atrophy    epididymitis    cholera
    blindness    tuberculosis    rheumatoid arthritis    pneumonia
    arthritis    anemia

    1 disease from the University of Copenhagen DISEASES database for TCIRG1:
    Osteopetrosis

    TCIRG1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for TCIRG1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteopetrosis, autosomal recessive 97.9 2 12687885 (1)
    osteopetrosis 93 11 12552563 (2), 11856654 (1), 16503212 (1), 18946580 (1) (see all 7)

    Genetic Association Database (GAD): TCIRG1
    Human Genome Epidemiology (HuGE) Navigator: TCIRG1 (7 documents)

    Export disorders for TCIRG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TCIRG1 gene, integrated from 9 sources (see all 68):
    (articles sorted by number of sources associating them with TCIRG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit. (PubMed id 8579597)1, 2, 3 Li Y.P.... Stashenko P. (1996)
    2. Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation. (PubMed id 10329006)1, 2, 9 Heinemann T.... Utku N. (1999)
    3. The mutational spectrum of human malignant autosomal recessive osteopetrosis. (PubMed id 11532986)1, 2, 9 Sobacchi C.... Villa A. (2001)
    4. TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. (PubMed id 15300850)1, 2, 9 Susani L.... Pagani F. (2004)
    5. Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. (PubMed id 12552563)1, 2, 9 Scimeca J.-C.... Carle G.F. (2003)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect. (PubMed id 19172990)1, 4 Bliznetz E.A....Polyakov A.V. (2009)
    8. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    9. The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis. (PubMed id 19371798)1, 4 Huang Q.Y....Kung A.W. (2009)
    10. Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. (PubMed id 14523594)1, 4 Sobacchi C....Ralston S.H. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10312 HGNC: 11647 AceView: TCIRG1 Ensembl:ENSG00000110719 euGenes: HUgn10312
    ECgene: TCIRG1 Kegg: 10312 H-InvDB: TCIRG1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TCIRG1 Pharmacogenomics, SNPs, Pathways
    TCIRG1basehttp://bioinf.uta.fi/TCIRG1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TCIRG1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TCIRG1 gene:
    Search GeneIP for patents involving TCIRG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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