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TINAG tubulointerstitial nephritis antigen [ Homo sapiens (human) ]

Gene ID: 27283, updated on 3-Apr-2024

Summary

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Official Symbol
TINAGprovided by HGNC
Official Full Name
tubulointerstitial nephritis antigenprovided by HGNC
Primary source
HGNC:HGNC:14599
See related
Ensembl:ENSG00000137251 MIM:606749; AllianceGenome:HGNC:14599
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TIN-AG
Summary
This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011]
Expression
Biased expression in kidney (RPKM 36.8), colon (RPKM 4.4) and 2 other tissues See more
Orthologs
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Genomic context

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See TINAG in Genome Data Viewer
Location:
6p12.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (54307862..54390142)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (54147922..54230307)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (54173239..54254940)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene muscular LMNA interacting protein Neighboring gene uncharacterized LOC124901335 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:54127209-54127965 Neighboring gene uncharacterized LOC105375098 Neighboring gene TINAG antisense RNA 1 Neighboring gene chloride nucleotide-sensitive channel 1A pseudogene 1 Neighboring gene ribosomal protein L10 pseudogene 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. TINAG mutation as a genetic cause of pectus excavatum. Tong X, et al. Med Hypotheses, 2020 Apr. PMID 31981812
  2. A tubulointerstitial nephritis antigen gene defect causes childhood-onset chronic renal failure. Takemura Y, et al. Pediatr Nephrol, 2010 Jul. PMID 20157734
  3. Identification of two alternatively spliced forms of human tubulointerstitial nephritis antigen (TIN-Ag). Zhou B, et al. J Am Soc Nephrol, 2000 Apr. PMID 10752525
  4. Tubulointerstitial nephritis antigen (TIN-ag) is expressed in distinct segments of the developing human nephron. Nelson TR, et al. Connect Tissue Res, 1998. PMID 9643646
  5. Identification of a target antigen in human anti-tubular basement membrane nephritis. Fliger FD, et al. Kidney Int, 1987 Mar. PMID 3553704

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TINAG mutation as a genetic cause of pectus excavatum.
    Title: TINAG mutation as a genetic cause of pectus excavatum.
  2. An hTIN-ag defect may be a potent cause of end-stage renal failure in childhood.
    Title: A tubulointerstitial nephritis antigen gene defect causes childhood-onset chronic renal failure.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase activity TAS
Traceable Author Statement
more info
 PubMed 
enables nucleotide binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in basement membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
tubulointerstitial nephritis antigen

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_014464.4 → NP_055279.3  tubulointerstitial nephritis antigen

    See identical proteins and their annotated locations for NP_055279.3

    Status: REVIEWED

    Source sequence(s)
    AK312918, AW027949, BC070278
    Consensus CDS
    CCDS4955.1
    UniProtKB/Swiss-Prot
    Q5T467, Q9UJW1, Q9UJW2, Q9ULZ4
    UniProtKB/TrEMBL
    Q6NSC1
    Related
    ENSP00000259782.4, ENST00000259782.9
    Conserved Domains (3) summary
    cd02620
    Location:218 → 466
    Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...
    pfam01033
    Location:61 → 104
    Somatomedin_B; Somatomedin B domain
    cl17735
    Location:120 → 154
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    54307862..54390142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715062.3 → XP_006715125.1  tubulointerstitial nephritis antigen isoform X1

    UniProtKB/TrEMBL
    Q6NSC1
    Conserved Domains (3) summary
    cd02620
    Location:200 → 448
    Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...
    pfam01033
    Location:43 → 86
    Somatomedin_B; Somatomedin B domain
    cl17735
    Location:102 → 136
    VWC; von Willebrand factor type C domain

  2. XM_017010745.2 → XP_016866234.1  tubulointerstitial nephritis antigen isoform X3

    UniProtKB/TrEMBL
    Q6NSC1

  3. XM_011514497.3 → XP_011512799.1  tubulointerstitial nephritis antigen isoform X4

    UniProtKB/TrEMBL
    Q6NSC1
    Conserved Domains (2) summary
    cd02620
    Location:168 → 416
    Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...
    pfam01033
    Location:61 → 104
    Somatomedin_B; Somatomedin B domain

  4. XM_017010746.2 → XP_016866235.1  tubulointerstitial nephritis antigen isoform X5

    UniProtKB/TrEMBL
    Q6NSC1

  5. XM_017010747.2 → XP_016866236.1  tubulointerstitial nephritis antigen isoform X6

  6. XM_047418653.1 → XP_047274609.1  tubulointerstitial nephritis antigen isoform X2

  7. XM_017010748.2 → XP_016866237.1  tubulointerstitial nephritis antigen isoform X7

RNA

  1. XR_001743344.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    54147922..54230307
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355181.1 → XP_054211156.1  tubulointerstitial nephritis antigen isoform X1

  2. XM_054355186.1 → XP_054211161.1  tubulointerstitial nephritis antigen isoform X6

  3. XM_054355185.1 → XP_054211160.1  tubulointerstitial nephritis antigen isoform X5

  4. XM_054355183.1 → XP_054211158.1  tubulointerstitial nephritis antigen isoform X3

  5. XM_054355184.1 → XP_054211159.1  tubulointerstitial nephritis antigen isoform X4

  6. XM_054355182.1 → XP_054211157.1  tubulointerstitial nephritis antigen isoform X2

  7. XM_054355187.1 → XP_054211162.1  tubulointerstitial nephritis antigen isoform X7

RNA

  1. XR_008487299.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UJW2.3 GenPept UniProtKB/Swiss-Prot:Q9UJW2

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