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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
    mouse all
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    Genomic context

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    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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    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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