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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TCIRG1 Gene

protein-coding GIFtS: 62
GCID: GC11P067806

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal...

(Previous names: T-cell, immune regulator 1, T-cell, immune regulator 1,...)

Explore 14 diseases affiliated with
TCIRG1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Subunit A3¹ ²		Stv1²
OC116¹ ² ³ ⁵		Vph1²
TIRC7¹ ² ³ ⁵		ATPase, H+ Transporting, 116kD²
ATP6N1C¹ ² ³		Specific 116-KDa Vacuolar Proton Pump Subunit²
ATP6V0A3¹ ² ³		T-Cell Immune Response CDNA 7²
Atp6i¹ ²		T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein A²
A3¹		V-ATPase 116-KDa²
Osteoclastic Proton Pump 116 KDa Subunit² ³		V-Type Proton ATPase 116 KDa Subunit A²
OC-116 KDa² ³		V-Type Proton ATPase 116 KDa Subunit A Isoform 3²
OPTB1² ⁵		Vacuolar Proton Translocating ATPase 116 KDa Subunit A²
OC-116¹		T-Cell Immune Regulator 1³
T-Cell, Immune Regulator 1¹		T-Cell Immune Response CDNA7 Protein³
T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein A Isoform 3¹		V-ATPase 116 KDa Isoform A3³
T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein A3¹		Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 3³
OC-116kDa²

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:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TCIRG1 gene promoter:
p53
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TCIRG1 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:	67,806,483 bp from pter	End:	67,818,366 bp from pter
Size:	11,884 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13488

TCIRG1 Protein expression data from MOPED and PaxDb: About this image

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:

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	Uscn Proteins for TCIRG1

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000220	vacuolar proton-transporting V-type ATPase, V0 domain	IEA	--
GO:0005739	mitochondrion	IEA	--
GO:0005886	plasma membrane	TAS	9806637
GO:0005887	integral to plasma membrane	TAS	10329006
GO:0010008	endosome membrane	TAS	--

TCIRG1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TCIRG1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TCIRG1 for domains About GeneDecksing

2 InterPro domains/families:

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 family: IPB002490 V-type ATPase

UniProtKB/Swiss-Prot: VPP3_HUMAN, Q13488

Similarity: Belongs to the V-ATPase 116 kDa subunit family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

Genatlas biochemistry entry for TCIRG1:

T cell membrane protein essential for T cell activation,expressed in lymphocytes,with an alternative transcript OC116

(see symbol)

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCIRG1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	TAS	8579597
GO:0015078	hydrogen ion transmembrane transporter activity	IEA	--

TCIRG1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for TCIRG1: Tcirg1^tm1Ypl Tcirg1^tm1.2Ywd Tcirg1^tm1Utku
     13 MGI mutant phenotypes (inferred from 6 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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Insulin receptor recycling

Insulin receptor recycling	1.00	Latent infection of Homo sapiens with Mycobacterium tuberculosis	0.64
Transferrin endocytosis and recycling	0.79	Iron uptake and transport	0.56
Collecting duct acid secretion	0.68	Vibrio cholerae infection	0.41
Phagosomal maturation (early endosomal stage)	0.64	Epithelial cell signaling in Helicobacter pylori infection	0.33

Disease

Disease

1.00

Rheumatoid arthritis

Rheumatoid arthritis

1.00

Tuberculosis

Tuberculosis

1.00

Lysosome

Lysosome

1.00

Pathway sources
See GeneCards unified pathways
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

5/9 Kegg Pathways (Kegg details for TCIRG1) (see all 9):

	Oxidative phosphorylation
	Metabolic pathways
	Lysosome
	Phagosome
	Collecting duct acid secretion

TCIRG1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM 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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATP6V0A1	ENSP00000264649⁴	STRING: ENSP00000264649
ATP6V0A2	ENSP00000332247⁴	STRING: ENSP00000332247
ATP6V0A4	ENSP00000253856⁴	STRING: ENSP00000253856
ATP6V0E1	ENSP00000265093⁴	STRING: ENSP00000265093
ATP6V1H	ENSP00000352522⁴	STRING: 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0006879	cellular iron ion homeostasis	TAS	--
GO:0006968	cellular defense response	TAS	9806637
GO:0008284	positive regulation of cell proliferation	TAS	9806637
GO:0008286	insulin receptor signaling pathway	TAS	--
GO:0015991	ATP 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, 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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TCIRG1

4 HMDB Compounds for TCIRG1 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen 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 235 Homo sapiens; Mar 10 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,
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, 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

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Additional cDNA 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):

BI521155 BU630675 CD722370 BX332189 AK057093 BU631560 BF591451 CD514804

BF917356 BQ083933 AI814904 AI075161 AY548971 CK429795 AY708390 AA625923

BU688206 AY548969 AW204044 NM_006053 CD367920 BX341890 CR599870 BF224014

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGATGCGCA

About this image

TCIRG1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SABiosciences Custom PCR Arrays for TCIRG1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCIRG1

(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 7/30 species (see all 30) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	--	64(a) 62(a)	possible ortholog 1 ↔ 1	5(16458847-16459788) 1(93417065-93436318)
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) 41(a) (see all 5)	possible ortholog possible ortholog (see all 5)	3R(24956772-24963702) 3R(14216045-14224891)
worm (Caenorhabditis elegans)	Secernentea	unc-32⁶ vha-6⁶ (see all 4)	Vacuolar H ATPase family member (vha-6) (see all 4)	37(a) 35(a) (see all 4)	many ↔ many many ↔ many (see all 4)	III(8905538-8911669) II(11435147-11438400)
thale cress (Arabidopsis thaliana)	eudicotyledons	VHA-A2⁶ VHA-A3⁶ (see all 3)	V-type H+-transporting ATPase subunit I (see all 3)	35(a) 35(a) (see all 3)	possible ortholog possible ortholog (see all 3)	2(9162620-9168452) 4(18209399-18215056)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	vacuolar ATP synthase 98 kDa subunit, putative, ex... vacuolar ATP synthase 98 kDa subunit, putative, ex... (see all 3)	35(a) 35(a) (see all 3)	possible ortholog possible ortholog (see all 3)	10(5797394-5805885) 1(35731622-35742643)

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

TCIRG1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4147781^1,2	C	--	64140819(+)	`CTTACC/TGTGGT`	1	--	us2k¹		2	NA	4
rs4147783^1,2	C,	--	64141029(+)	`GTGCTC/AGCTGT`	1	--	us2k¹		1	NA	2
rs1076558^1,2	C,A,H,	--	64142046(-)	`GGCGGG/TCTGAG`	1	--	int¹		8	MN NS EA NA	778
rs79557925^1,2	C,	--	64143460(+)	`ACATCG/AGCCTT`	1	--	int¹		4	NA WA EA	360
rs112230656^1,2	C,F,	--	64143490(+)	`NNNNCG/ACCATT`	1	--	int¹		3	NA	124
rs79086102^1,2	F,	--	64143774(+)	`AGGTGG/CGGGTG`	1	--	int¹		1	EA	120
rs7116924^1,2	C,F,A,H,	--	64144282(+)	`CCCCCT/CCCGCC`	2	--	int¹ us2k¹ trp³		7	WA NA EA	366
rs113005329^1,2	F	--	64144729(+)	`GGTTTG/ACCAGG`	2	--	us2k¹ int¹		2	CSA	4
rs78249208^1,2	F,	--	64147508(+)	`GCTTGC/TGGGTG`	2	--	int¹		1	WA	118
rs2853037^1,2	H	--	64147601(-)	`TGGGGG/CCCCAA`	2	--	int¹		4	NS EA	418

HapMap Linkage Disequilibrium report for TCIRG1 (67806483 - 67818366 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for TCIRG1
4 CNVs: 2931 29914 3856 30558
Human Gene Mutation Database (HGMD): TCIRG1

Locus Specific Mutation Databases (LSDB): TCIRG1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TCIRG1

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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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TCIRG1 for disorders           About GeneDecksing

OMIM gene information: 604592
OMIM disorders: 259700
UniProtKB/Swiss-Prot: VPP3_HUMAN, Q13488

Defects in TCIRG1 are the cause of osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]; also called

autosomal recessive Albers-Schonberg disease or infantile malignant osteopetrosis. Osteopetrosis is a rare genetic

disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder 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. The features of OPTB1 are macrocephaly, progressive deafness and

blindness, hepatosplenomegaly, and severe anemia beginning in early infancy or in fetal life. Deafness and blindness

are generally thought to represent effects of pressure on nerves

14 diseases for TCIRG1: About MalaCards

osteopetrosis osteopetrosis, recessive 1 renal tubular acidosis optic atrophy

rheumatoid arthritis pulmonary tuberculosis epididymitis cholera

osteoporosis neurodegeneration arthritis blindness

tuberculosis malaria

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

Osteopetrosis

2 Novoseek 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 9 sources (see all 63):
(articles sorted by number of sources associating them with TCIRG1)

Utopia: connect your pdf to the dynamic
world of online information

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)
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)
The mutational spectrum of human malignant autosomal recessive osteopetrosis. (PubMed id 11532986)^{1, 2, 9} Sobacchi C.... Villa A. (2001)
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)
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)
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)
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. (PubMed id 14584882)^{1, 4} Frattini A.... Villa A. (2003)
Prevention of acute allograft rejection by antibody t argeting of TIRC7, a novel T cell membrane protein. (PubMed id 9806637)^{1, 3} Utku N....Gullans S.R. (1998)
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. (PubMed id 18715141)^{1, 9} Pangrazio A....Frattini A. (2009)
Identification of new alternative splice events in the TCIRG1 gene in different human tissues. (PubMed id 15809087)^{1, 9} Smirnova A.S....Gerbase-DeLima M. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TCIRG1	Pharmacogenomics, SNPs, Pathways
TCIRG1base	http://bioinf.uta.fi/TCIRG1base/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TCIRG1

Intellectual Property for TCIRG1 gene
(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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TCIRG1 Gene

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal...

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

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TCIRG1 Gene

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal...

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