Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TCIRG1 Gene

Aliases for TCIRG1 Gene

  • T-Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3 2 3 5
  • T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Subunit A3 2 3
  • Osteoclastic Proton Pump 116 KDa Subunit 3 4
  • T-Cell Immune Response CDNA 7 2 3
  • ATP6V0A3 3 4
  • ATP6N1C 3 4
  • OC116 3 4
  • TIRC7 3 4
  • 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
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A 3
  • V-Type Proton ATPase 116 KDa Subunit A Isoform 3 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
  • V-ATPase 116 KDa Isoform A3 4
  • T-Cell, Immune Regulator 1 2
  • T-Cell Immune Regulator 1 4
  • V-ATPase 116-KDa 3
  • OC-116 KDa 4
  • OC-116kDa 3
  • Atp6i 3
  • OPTB1 3
  • Stv1 3
  • Vph1 3
  • A3 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and hydrogen ion transmembrane transporter activity. An important paralog of this gene is ATP6V0A2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for TCIRG1 Gene

Genomics for TCIRG1 Gene

Regulatory Elements for TCIRG1 Gene

Enhancers for TCIRG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G068035 1.4 ENCODE dbSUPER 15.6 +0.8 811 9.2 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ENSG00000255031 TCIRG1 LOC105369362 LOC105369361 OR7E11P MIR6753
GH11G068098 1.6 Ensembl ENCODE dbSUPER 12 +62.0 62048 4.7 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 SP5 ZHX2 MRGPRF-AS1 MRGPRF ENSG00000261625 ENSG00000260808 SSH3 ENSG00000255031 TCIRG1 NDUFS8 RAD9A CORO1B
GH11G068144 1.6 Ensembl ENCODE dbSUPER 11.4 +107.9 107900 4.4 HDGF FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 FEZF1 ZBTB7B YY1 ENSG00000255031 TCIRG1 NDUFS8 ENSG00000255119 PIR54954 GC11M068148
GH11G068149 1.3 Ensembl ENCODE dbSUPER 11.4 +111.3 111311 1.3 GTF2F1 MAX CEBPG RAD21 FOSL1 ZNF766 GATA3 SCRT2 FOSL2 FOS TCIRG1 NDUFS8 PIR54954 GC11M068148
GH11G068103 1.4 Ensembl ENCODE dbSUPER 9.9 +67.4 67437 5.3 ELF3 FOXA2 ARID4B FEZF1 RARA FOS EGR2 ZNF263 SP5 CEBPB ENSG00000255031 TCIRG1 NDUFS8 CHKA GC11M068058
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TCIRG1 on UCSC Golden Path with GeneCards custom track

Promoters for TCIRG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000041177 905 2201 HDGF FOXA2 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 SLC30A9

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

Genomic Location for TCIRG1 Gene

Chromosome:
11
Start:
68,038,995 bp from pter
End:
68,050,899 bp from pter
Size:
11,905 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 a isoform 3
    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

Antibody Products

  • 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 :

Protein Domains for TCIRG1 Gene

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

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

Gene Ontology (GO) - Molecular Function for TCIRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 8579597
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA --
GO:0051117 ATPase binding IBA --
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:

Animal Model Products

CRISPR Products

miRNA for TCIRG1 Gene

miRTarBase miRNAs that target TCIRG1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
lysosome 5
endosome 5
mitochondrion 4
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

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:0005739 mitochondrion IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10329006
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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006968 cellular defense response TAS 9806637
GO:0007035 vacuolar acidification IBA --
GO:0007039 protein catabolic process in the vacuole ISS --
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

(2) Drugs for TCIRG1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with TCIRG1: view

Transcripts for TCIRG1 Gene

Unigene Clusters for TCIRG1 Gene

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
TCIRG1

Expression for TCIRG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TCIRG1 Gene



Protein tissue co-expression partners for TCIRG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TCIRG1 Gene:

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(4.6)
  • Pancreas(4.4)
  • Bone marrow(2.8)
  • Bone(2.4)
  • Blood(2.1)

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
Organs:
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

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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia TCIRG1 34 35
  • 86.93 (n)
cow
(Bos Taurus)
Mammalia TCIRG1 34 35
  • 86.55 (n)
mouse
(Mus musculus)
Mammalia Tcirg1 34 16 35
  • 82.99 (n)
rat
(Rattus norvegicus)
Mammalia Tcirg1 34
  • 82.95 (n)
oppossum
(Monodelphis domestica)
Mammalia TCIRG1 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 46 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TCIRG1 34 35
  • 71.82 (n)
lizard
(Anolis carolinensis)
Reptilia TCIRG1 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcirg1 34
  • 57.03 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:55891 34
  • 60.77 (n)
TCIRG1 (2 of 2) 35
  • 57 (a)
OneToMany
tcirg1 35
  • 56 (a)
OneToMany
Dr.3804 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1481 34
fruit fly
(Drosophila melanogaster)
Insecta Vha100-1 35
  • 42 (a)
ManyToMany
Vha100-2 35
  • 42 (a)
ManyToMany
Vha100-5 35
  • 40 (a)
ManyToMany
Vha100-4 35
  • 38 (a)
ManyToMany
Vha100-3 35
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-32 35
  • 37 (a)
ManyToMany
vha-6 35
  • 37 (a)
ManyToMany
vha-5 35
  • 35 (a)
ManyToMany
vha-7 35
  • 26 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPH1 35
  • 35 (a)
ManyToMany
STV1 35
  • 32 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
Species where no ortholog for TCIRG1 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)
  • 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 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)

Paralogs for TCIRG1 Gene

Paralogs for TCIRG1 Gene

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

Variants for TCIRG1 Gene

Sequence variations from dbSNP and Humsavar for TCIRG1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs137853150 Pathogenic, Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700] 68,047,480(+) TGTTC(A/G)GGGAT nc-transcript-variant, reference, missense
rs137853151 Pathogenic, Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700] 68,047,672(+) GGGCC(A/G/T)CTACC nc-transcript-variant, reference, missense
rs369264588 Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700] 68,047,967(+) GCATC(A/G)ATCCT nc-transcript-variant, reference, missense
VAR_020988 Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]
VAR_020991 Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]

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)

Relevant External Links for TCIRG1 Gene

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

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

Disorders for TCIRG1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TCIRG1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 1
  • autosomal recessive osteopetrosis 1
autosomal recessive malignant osteopetrosis
  • infantile malignant osteopetrosis
neutropenia, severe congenital 1, autosomal dominant
  • scn1
severe congenital neutropenia autosomal dominant
  • autosomal dominant severe congenital neutropenia
tcirg1-related autosomal recessive osteopetrosis
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for TCIRG1

Genetic Association Database (GAD)
TCIRG1
Human Genome Epidemiology (HuGE) Navigator
TCIRG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCIRG1
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. (Hum. Mutat. 2004) 3 4 22 64
  2. 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 J.-C. … Carle G.F. (Hum. Mutat. 2003) 3 4 22 64
  3. The mutational spectrum of human malignant autosomal recessive osteopetrosis. (PMID: 11532986) Sobacchi C. … Villa A. (Hum. Mol. Genet. 2001) 3 4 22 64
  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 64
  5. Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit. (PMID: 8579597) Li Y.P. … Stashenko P. (Biochem. Biophys. Res. Commun. 1996) 2 3 4 64

Products for TCIRG1 Gene

Sources for TCIRG1 Gene

Content
Loading form....