This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen act... See more...

Aliases for TCIRG1 Gene

Aliases for TCIRG1 Gene

  • T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3 2 3 5
  • ATP6V0A3 2 3 4
  • ATP6N1C 2 3 4
  • OC116 2 3 4
  • TIRC7 2 3 4
  • T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Subunit A3 2 3
  • Osteoclastic Proton Pump 116 KDa Subunit 3 4
  • V-Type Proton ATPase 116 KDa Subunit A3 3 4
  • T-Cell Immune Response CDNA 7 2 3
  • V-ATPase 116 KDa Subunit A3 3 4
  • Atp6i 2 3
  • A3 2 3
  • T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein A Isoform 3 2
  • T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein A 3
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 3 4
  • T-Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3 2
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A 3
  • Specific 116-KDa Vacuolar Proton Pump Subunit 3
  • V-Type Proton ATPase 116 KDa Subunit A 3
  • T-Cell Immune Response CDNA7 Protein 4
  • ATPase, H+ Transporting, 116kD 3
  • T-Cell, Immune Regulator 1 2
  • T-Cell Immune Regulator 1 4
  • V-ATPase 116-KDa 3
  • OC-116 KDa 4
  • OC-116kDa 3
  • TCIRG1 5
  • OC-116 2
  • OPTB1 3
  • Stv1 3
  • Vph1 3

External Ids for TCIRG1 Gene

Previous GeneCards Identifiers for TCIRG1 Gene

  • GC11P070329
  • GC11P069502
  • GC11P068056
  • GC11P067581
  • GC11P067563
  • GC11P067806
  • GC11P064141

Summaries for TCIRG1 Gene

Entrez Gene Summary for TCIRG1 Gene

  • This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. 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. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]

GeneCards Summary for TCIRG1 Gene

TCIRG1 (T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3) is a Protein Coding gene. Diseases associated with TCIRG1 include Osteopetrosis, Autosomal Recessive 1 and Autosomal Recessive Malignant Osteopetrosis. Among its related pathways are Insulin receptor recycling and Lysosome. Gene Ontology (GO) annotations related to this gene include transporter activity and proton transmembrane transporter activity. An important paralog of this gene is ATP6V0A2.

UniProtKB/Swiss-Prot Summary for TCIRG1 Gene

  • 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCIRG1 Gene

Genomics for TCIRG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TCIRG1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCIRG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCIRG1

Top Transcription factor binding sites by QIAGEN in the TCIRG1 gene promoter:
  • p53

Genomic Locations for TCIRG1 Gene

Latest Assembly
chr11:68,039,000-68,053,846
(GRCh38/hg38)
Size:
14,847 bases
Orientation:
Plus strand

Previous Assembly
chr11:67,806,492-67,818,362
(GRCh37/hg19 by Entrez Gene)
Size:
11,871 bases
Orientation:
Plus strand

chr11:67,806,483-67,818,362
(GRCh37/hg19 by Ensembl)
Size:
11,880 bases
Orientation:
Plus strand

Genomic View for TCIRG1 Gene

Genes around TCIRG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCIRG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCIRG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCIRG1 Gene

Proteins for TCIRG1 Gene

  • Protein details for TCIRG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13488-VPP3_HUMAN
    Recommended name:
    V-type proton ATPase 116 kDa subunit a3
    Protein Accession:
    Q13488
    Secondary Accessions:
    • O75877
    • Q8WVC5

    Protein attributes for TCIRG1 Gene

    Size:
    830 amino acids
    Molecular mass:
    92968 Da
    Quaternary structure:
    • 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''.

    Alternative splice isoforms for TCIRG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCIRG1 Gene

Post-translational modifications for TCIRG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for TCIRG1
  • Boster Bio Antibodies for TCIRG1
  • Santa Cruz Biotechnology (SCBT) Antibodies for TCIRG1

No data available for DME Specific Peptides for TCIRG1 Gene

Domains & Families for TCIRG1 Gene

Gene Families for TCIRG1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TCIRG1 Gene

InterPro:
Blocks:
  • V-type ATPase, 116 kDa subunit

Suggested Antigen Peptide Sequences for TCIRG1 Gene

GenScript: Design optimal peptide antigens:
  • T-cell immune regulator 1 transcript variant 4 (Q64F87_HUMAN)
  • T-cell immune regulator 1 transcript variant 8 (Q6QBN4_HUMAN)
  • T-cell immune regulator 1 transcript variant 7 (Q6QBN5_HUMAN)
  • T-cell immune regulator 1 transcript variant 6 (Q6QBN6_HUMAN)
  • T-cell immune regulator 1 transcript variant 5 (Q6QBN7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13488

UniProtKB/Swiss-Prot:

VPP3_HUMAN :
  • Belongs to the V-ATPase 116 kDa subunit family.
Family:
  • Belongs to the V-ATPase 116 kDa subunit family.
genes like me logo Genes that share domains with TCIRG1: view

Function for TCIRG1 Gene

Molecular function for TCIRG1 Gene

UniProtKB/Swiss-Prot Function:
Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation.
GENATLAS Biochemistry:
T cell membrane protein essential for T cell activation,expressed in lymphocytes,with an alternative transcript OC116 (see symbol)

Phenotypes From GWAS Catalog for TCIRG1 Gene

Gene Ontology (GO) - Molecular Function for TCIRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 8579597
GO:0005515 protein binding IPI 32296183
GO:0015078 proton transmembrane transporter activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA 21873635
GO:0051117 ATPase binding IBA 21873635
genes like me logo Genes that share ontologies with TCIRG1: view
genes like me logo Genes that share phenotypes with TCIRG1: view

Human Phenotype Ontology for TCIRG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TCIRG1 Gene

MGI Knock Outs for TCIRG1:

miRNA for TCIRG1 Gene

miRTarBase miRNAs that target TCIRG1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCIRG1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TCIRG1 Gene

Localization for TCIRG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCIRG1 Gene

Membrane. Multi-pass membrane protein.

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 TCIRG1 gene
Compartment Confidence
plasma membrane 5
endosome 4
lysosome 4
mitochondrion 3
nucleus 3
extracellular 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TCIRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IEA --
GO:0005634 nucleus IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005770 late endosome IEA --
genes like me logo Genes that share ontologies with TCIRG1: view

Pathways & Interactions for TCIRG1 Gene

genes like me logo Genes that share pathways with TCIRG1: view

Gene Ontology (GO) - Biological Process for TCIRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IEA --
GO:0001503 ossification IEA --
GO:0002158 osteoclast proliferation IEA --
GO:0006811 ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IEA --
genes like me logo Genes that share ontologies with TCIRG1: view

No data available for SIGNOR curated interactions for TCIRG1 Gene

Drugs & Compounds for TCIRG1 Gene

(4) Drugs for TCIRG1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for TCIRG1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with TCIRG1: view

Transcripts for TCIRG1 Gene

mRNA/cDNA for TCIRG1 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCIRG1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for TCIRG1 Gene

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: - - - - - -
SP6:
SP7: - -
SP8: - -
SP9: -
SP10:
SP11: - - -
SP12: -
SP13: -
SP14:
SP15:
SP16:
SP17:

ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17: -

Relevant External Links for TCIRG1 Gene

GeneLoc Exon Structure for
TCIRG1

Expression for TCIRG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TCIRG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TCIRG1 Gene

This gene is overexpressed in Whole Blood (x13.6).

Protein differential expression in normal tissues from HIPED for TCIRG1 Gene

This gene is overexpressed in Nasal epithelium (29.6) and Monocytes (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TCIRG1 Gene



Protein tissue co-expression partners for TCIRG1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TCIRG1

SOURCE GeneReport for Unigene cluster for TCIRG1 Gene:

Hs.495985

mRNA Expression by UniProt/SwissProt for TCIRG1 Gene:

Q13488-VPP3_HUMAN
Tissue specificity: Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus.

Evidence on tissue expression from TISSUES for TCIRG1 Gene

  • Lung(4.7)
  • Pancreas(4.5)
  • Bone marrow(2.9)
  • Spleen(2.7)
  • Blood(2.4)
  • Eye(2.4)
  • Lymph node(2.3)
  • Skin(2.3)
  • Intestine(2.3)
  • Bone(2.3)
  • Nervous system(2.2)
  • Stomach(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCIRG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • pharynx
  • sinus
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TCIRG1: view

Primer products for research

Orthologs for TCIRG1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TCIRG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TCIRG1 29 30
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TCIRG1 29 30
  • 86.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TCIRG1 29 30
  • 86.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tcirg1 29 16 30
  • 82.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tcirg1 29
  • 82.95 (n)
Oppossum
(Monodelphis domestica)
Mammalia TCIRG1 30
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 46 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves TCIRG1 29 30
  • 71.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TCIRG1 30
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tcirg1 29
  • 57.03 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:55891 29
  • 60.77 (n)
TCIRG1 (2 of 2) 30
  • 57 (a)
OneToMany
tcirg1 30
  • 56 (a)
OneToMany
Dr.3804 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1481 29
Fruit Fly
(Drosophila melanogaster)
Insecta Vha100-1 30
  • 42 (a)
ManyToMany
Vha100-2 30
  • 42 (a)
ManyToMany
Vha100-5 30
  • 40 (a)
ManyToMany
Vha100-4 30
  • 38 (a)
ManyToMany
Vha100-3 30
  • 31 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea vha-6 30
  • 37 (a)
ManyToMany
unc-32 30
  • 37 (a)
ManyToMany
vha-5 30
  • 35 (a)
ManyToMany
vha-7 30
  • 26 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPH1 30
  • 35 (a)
ManyToMany
STV1 30
  • 32 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 54 (a)
OneToMany
Species where no ortholog for TCIRG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 TCIRG1 Gene

ENSEMBL:
Gene Tree for TCIRG1 (if available)
TreeFam:
Gene Tree for TCIRG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCIRG1: view image
Alliance of Genome Resources:
Additional Orthologs for TCIRG1

Paralogs for TCIRG1 Gene

Paralogs for TCIRG1 Gene

(5) SIMAP similar genes for TCIRG1 Gene using alignment to 13 proteins:

  • VPP3_HUMAN
  • E9PM12_HUMAN
  • E9PMC5_HUMAN
  • E9PNA6_HUMAN
  • H0YCE3_HUMAN
  • H0YEL3_HUMAN
  • Q64F87_HUMAN
  • Q6QBN4_HUMAN
  • Q6QBN5_HUMAN
  • Q6QBN6_HUMAN
  • Q6QBN7_HUMAN
  • Q6QBN8_HUMAN
  • Q8TCH1_HUMAN
genes like me logo Genes that share paralogs with TCIRG1: view

Variants for TCIRG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCIRG1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1005769 Uncertain Significance: not provided 68,049,100(+) C/T
NM_006019.4(TCIRG1):c.1693C>T (p.Arg565Trp)
MISSENSE
1009719 Uncertain Significance: not provided 68,047,946(+) G/A
NM_006019.4(TCIRG1):c.1528G>A (p.Gly510Arg)
MISSENSE
1012214 Uncertain Significance: Autosomal recessive osteopetrosis 1 68,042,715(+) C/A
NM_006019.4(TCIRG1):c.269C>A (p.Pro90Gln)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1016477 Uncertain Significance: not provided 68,047,928(+) G/A
NM_006019.4(TCIRG1):c.1510G>A (p.Val504Ile)
MISSENSE
1022867 Uncertain Significance: not provided 68,044,265(+) C/T
NM_006019.4(TCIRG1):c.941C>T (p.Thr314Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TCIRG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TCIRG1 Gene

Variant ID Type Subtype PubMed ID
dgv1221n100 CNV gain 25217958
dgv1981n54 CNV gain 21841781
dgv1983n54 CNV loss 21841781
dgv1984n54 CNV loss 21841781
esv2759835 CNV gain+loss 17122850
nsv468606 CNV gain 19166990
nsv468615 CNV loss 19166990
nsv469856 CNV gain 16826518
nsv469964 CNV loss 18288195
nsv555278 CNV loss 21841781
nsv555282 CNV loss 21841781
nsv825963 CNV gain 20364138
nsv8836 CNV gain 18304495
nsv951026 CNV deletion 24416366

Variation tolerance for TCIRG1 Gene

Residual Variation Intolerance Score: 58.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.53; 64.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCIRG1 Gene

Human Gene Mutation Database (HGMD)
TCIRG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCIRG1
Leiden Open Variation Database (LOVD)
TCIRG1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCIRG1 Gene

Disorders for TCIRG1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for TCIRG1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 1
  • optb1
autosomal recessive malignant osteopetrosis
  • infantile malignant osteopetrosis
autosomal dominant severe congenital neutropenia
  • severe congenital neutropenia autosomal dominant
osteopetrosis
  • albers-schonberg disease
neutropenia, severe congenital, 1, autosomal dominant
  • scn1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VPP3_HUMAN
  • 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. {ECO:0000269 PubMed:11532986, ECO:0000269 PubMed:12552563, ECO:0000269 PubMed:15300850}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TCIRG1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TCIRG1: view

No data available for Genatlas for TCIRG1 Gene

Publications for TCIRG1 Gene

  1. TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. (PMID: 15300850) Susani L … Pagani F (Human mutation 2004) 3 4 22 72
  2. The mutational spectrum of human malignant autosomal recessive osteopetrosis. (PMID: 11532986) Sobacchi C … Villa A (Human molecular genetics 2001) 3 4 22 72
  3. Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. (PMID: 12552563) Scimeca JC … Carle GF (Human mutation 2003) 3 4 22
  4. Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation. (PMID: 10329006) Heinemann T … Utku N (Genomics 1999) 3 4 22
  5. Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit. (PMID: 8579597) Li YP … Stashenko P (Biochemical and biophysical research communications 1996) 2 3 4

Products for TCIRG1 Gene

Sources for TCIRG1 Gene