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TCIRG1 Gene

protein-coding   GIFtS: 64
GCID: GC11P067806

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

(Previous names: T-cell, immune regulator 1, T-cell, immune regulator 1,...)
  See TCIRG1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 tcirg1-related autosomal recessive osteopetrosis, and osteopetrosis autosomal recessive 1. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TCIRG1 gene promoter:
         p53   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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''
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TCIRG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    TCIRG1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TCIRG1

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with TCIRG1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS8579597
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
         
    Find genes that share ontologies with TCIRG1           About GenesLikeMe


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

    Find genes that share phenotypes with TCIRG1           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TCIRG1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VPP3_HUMAN, Q13488: Membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome4
    mitochondrion2
    vacuole2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (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 component of plasma membrane TAS10329006

    Find genes that share ontologies with TCIRG1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TCIRG1 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.74
    Collecting duct acid secretion0.66
    Transferrin endocytosis and recycling0.74
    Vibrio cholerae infection0.40
    Iron uptake and transport0.70
    Epithelial cell signaling in Helicobacter pylori infection0.32
    2Insulin receptor signalling cascade
    Signaling by Insulin receptor0.80
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.58
    5Synaptic vesicle cycle
    Synaptic vesicle cycle0.50


    Find genes that share SuperPaths with TCIRG1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for TCIRG1
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TCIRG1
    Interactions:

        GeneGlobe Interaction Network for TCIRG1

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

    Selected Interacting proteins for TCIRG1 (ENSP000002656864) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V0A1ENSP000002646494STRING: ENSP00000264649
    ATP6V0A2ENSP000003322474STRING: ENSP00000332247
    ATP6V0A4ENSP000002538564STRING: ENSP00000253856
    ATP6V1AENSP000002733984STRING: ENSP00000273398
    ATP6V1B1ENSP000002343964STRING: ENSP00000234396
    About this table

    Gene Ontology (GO): Selected biological process terms (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--

    Find genes that share ontologies with TCIRG1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

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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 

    Selected AceView cDNA sequences (see all 261):

    AW204044 BU631560 BQ950273 BF224014 AY708389 AY548971 BQ081999 CA314014 
    CR599870 BM920218 BC018133 BC032465 AI075161 AF025374 AI950904 BF917356 
    AK057093 CR602058 NM_006053 AY548967 CA307407 BX332189 T86542 BM709187 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TCIRG1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Lung (Respiratory System)
     
     Pancreas (Endocrine System)
     
     Adrenal Gland (Endocrine System)
    TCIRG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TCIRG1 Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TCIRG1 gene from Selected species (see all 17)    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 82.99(n)1
    84.32(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 71.82(n)
    65.41(a)
      395472  NM_204722.1  NP_990053.1 
    lizard
    (Anolis carolinensis)
    Reptilia TCIRG16
    T-cell, immune regulator 1, ATPase, H+ transportin...
    62(a)
    1 ↔ 1
    1(93415903-93436466)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tcirg11 T-cell, immune regulator 1, ATPase, H+ transporting, more 57.03(n)
    57.81(a)
      549603  NM_001016849.2  NP_001016849.1 
    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 Vha100-16
    Vha100-26
    (see all 5)
    Vacuolar H[+] ATPase subunit 100-2
    (see all 5)
    42(a)
    42(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    3R(24956772-24963702)
    3R(14216045-14224891)
    worm
    (Caenorhabditis elegans)
    Secernentea vha-66
    unc-326
    (see all 4)
    Protein VHA-6 (vha-6) mRNA, complete cds
    Protein UNC-32, isoform d (unc-32) mRNA, complete ...
    (see all 4)
    37(a)
    37(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    II(11435211-11438464) WBGene00006915
    III(8905617-8911748) WBGene00006768
    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...
    35(a)
    32(a)
    many ↔ many
    many ↔ many
    XV(828052-830574) YOR270C
    XIII(383303-385975) YMR054W
    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)
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    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

    Find genes that share paralogs with TCIRG1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TCIRG1 (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) Selected 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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 5 diseases for TCIRG1:    
    About MalaCards
    tcirg1-related autosomal recessive osteopetrosis    osteopetrosis autosomal recessive 1    neutropenia, severe congenital 1, autosomal dominant    hepatoerythropoietic porphyria
    osteopetrosis

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

    Find genes that share disorders with TCIRG1           About GenesLikeMe

    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)
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    PubMed articles for TCIRG1 gene, integrated from 10 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. (Biochem. Biophys. Res. Commun. 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. (Genomics 1999)
    3. The mutational spectrum of human malignant autosomal recessive osteopetrosis. (PubMed id 11532986)1, 2, 9 Sobacchi C.... Villa A. (Hum. Mol. Genet. 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. (Hum. Mutat. 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. (Hum. Mutat. 2003)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 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. (Eur. J. Hum. Genet. 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. (J. Bone Miner. Res. 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. (Bone 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. (Calcif. Tissue Int. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10312 HGNC: 11647 AceView: TCIRG1 Ensembl:ENSG00000110719 euGenes: HUgn10312
    ECgene: TCIRG1 Kegg: 10312 H-InvDB: TCIRG1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TCIRG1 Pharmacogenomics, SNPs, Pathways
    TCIRG1basehttp://bioinf.uta.fi/TCIRG1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TCIRG1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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