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    TEX2 testis expressed 2 [ Homo sapiens (human) ]

    Gene ID: 55852, updated on 7-Apr-2024

    Summary

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    Official Symbol
    TEX2provided by HGNC
    Official Full Name
    testis expressed 2provided by HGNC
    Primary source
    HGNC:HGNC:30884
    See related
    Ensembl:ENSG00000136478 MIM:619929; AllianceGenome:HGNC:30884
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HT008; TMEM96
    Summary
    Predicted to enable lipid binding activity. Predicted to be involved in lipid transport. Predicted to be located in endoplasmic reticulum membrane and nuclear membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 15.4), thyroid (RPKM 12.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q23.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (64147227..64263260, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (65016989..65133047, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62224587..62340620, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62223017-62223571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12587 Neighboring gene small nucleolar RNA, C/D box 104 Neighboring gene small nucleolar RNA, H/ACA box 50C Neighboring gene small nucleolar RNA host gene 25 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62293569-62294401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62294402-62295233 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62317605-62317814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8841 Neighboring gene Sharpr-MPRA regulatory region 13166 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62398397-62398608 Neighboring gene ribosomal protein L31 pseudogene 57 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12589 Neighboring gene platelet and endothelial cell adhesion molecule 1

    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. A catalog of single nucleotide changes distinguishing modern humans from archaic hominins. Kuhlwilm M, et al. Sci Rep, 2019 Jun 11. PMID 31186485, Free PMC Article
    2. Inter-organelle ER-endolysosomal contact sites in metabolism and disease across evolution. Hariri H, et al. Commun Integr Biol, 2016 May-Jun. PMID 27489577, Free PMC Article
    3. Diverse membrane-associated proteins contain a novel SMP domain. Lee I, et al. FASEB J, 2006 Feb. PMID 16449791
    4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
    5. Spatial proteomics reveal that the protein phosphatase PTP1B interacts with and may modify tyrosine phosphorylation of the rhomboid protease RHBDL4. Ikeda KN, et al. J Biol Chem, 2019 Jul 26. PMID 31177093, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Clone Names

    • KIAA1738, DKFZp781G0721

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in sphingolipid metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    testis-expressed protein 2
    Names
    testis expressed sequence 2
    testis-expressed sequence 2 protein
    transmembrane protein 96

    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_001288732.2 → NP_001275661.1  testis-expressed protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001275661.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 1. The resulting shorter isoform (2) lacks a 7 aa protein segment compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AA825291, AC025362, AL834251, BC036672, BC040521
      Consensus CDS
      CCDS74131.1
      UniProtKB/Swiss-Prot
      Q6AHZ5, Q8IWB9, Q8N3L0, Q9C0C5
      Related
      ENSP00000463001.1, ENST00000584379.6
      Conserved Domains (1) summary
      pfam10296
      Location:825 → 914
      DUF2404; Putative integral membrane protein conserved region (DUF2404)

    2. NM_001288733.2 → NP_001275662.1  testis-expressed protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001275662.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' non-coding exon and uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 1. The resulting shorter isoform (2) lacks a 7 aa protein segment compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AA825291, AC025362, BC036672, BC040521, CR627433
      Consensus CDS
      CCDS74131.1
      UniProtKB/Swiss-Prot
      Q6AHZ5, Q8IWB9, Q8N3L0, Q9C0C5
      Related
      ENSP00000462665.1, ENST00000583097.5
      Conserved Domains (1) summary
      pfam10296
      Location:825 → 914
      DUF2404; Putative integral membrane protein conserved region (DUF2404)

    3. NM_018469.5 → NP_060939.3  testis-expressed protein 2 isoform 1

      See identical proteins and their annotated locations for NP_060939.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA825291, AC025362, BC036672, BC040521
      Consensus CDS
      CCDS11658.1
      UniProtKB/Swiss-Prot
      Q8IWB9
      Related
      ENSP00000258991.3, ENST00000258991.7
      Conserved Domains (1) summary
      pfam10296
      Location:832 → 921
      DUF2404; Putative integral membrane protein conserved region (DUF2404)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      64147227..64263260 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024846.3 → XP_016880335.1  testis-expressed protein 2 isoform X4

    2. XM_011525000.3 → XP_011523302.1  testis-expressed protein 2 isoform X2

      Conserved Domains (1) summary
      pfam10296
      Location:832 → 921
      DUF2404; Putative integral membrane protein conserved region (DUF2404)

    3. XM_047436397.1 → XP_047292353.1  testis-expressed protein 2 isoform X4

    4. XM_047436394.1 → XP_047292350.1  testis-expressed protein 2 isoform X3

      UniProtKB/Swiss-Prot
      Q6AHZ5, Q8IWB9, Q8N3L0, Q9C0C5

    5. XM_047436395.1 → XP_047292351.1  testis-expressed protein 2 isoform X3

      UniProtKB/Swiss-Prot
      Q6AHZ5, Q8IWB9, Q8N3L0, Q9C0C5

    6. XM_011524999.2 → XP_011523301.1  testis-expressed protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011523301.1

      UniProtKB/Swiss-Prot
      Q8IWB9
      Conserved Domains (1) summary
      pfam10296
      Location:832 → 921
      DUF2404; Putative integral membrane protein conserved region (DUF2404)

    7. XM_047436393.1 → XP_047292349.1  testis-expressed protein 2 isoform X1

    8. XM_047436396.1 → XP_047292352.1  testis-expressed protein 2 isoform X3

      UniProtKB/Swiss-Prot
      Q6AHZ5, Q8IWB9, Q8N3L0, Q9C0C5

    9. XM_011524998.2 → XP_011523300.1  testis-expressed protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011523300.1

      UniProtKB/Swiss-Prot
      Q8IWB9
      Conserved Domains (1) summary
      pfam10296
      Location:832 → 921
      DUF2404; Putative integral membrane protein conserved region (DUF2404)

    10. XM_047436392.1 → XP_047292348.1  testis-expressed protein 2 isoform X1

    11. XM_017024847.3 → XP_016880336.1  testis-expressed protein 2 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      65016989..65133047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316663.1 → XP_054172638.1  testis-expressed protein 2 isoform X3

      UniProtKB/Swiss-Prot
      Q6AHZ5, Q8IWB9, Q8N3L0, Q9C0C5

    2. XM_054316665.1 → XP_054172640.1  testis-expressed protein 2 isoform X4

    3. XM_054316661.1 → XP_054172636.1  testis-expressed protein 2 isoform X3

      UniProtKB/Swiss-Prot
      Q6AHZ5, Q8IWB9, Q8N3L0, Q9C0C5

    4. XM_054316664.1 → XP_054172639.1  testis-expressed protein 2 isoform X4

    5. XM_054316660.1 → XP_054172635.1  testis-expressed protein 2 isoform X2

    6. XM_054316658.1 → XP_054172633.1  testis-expressed protein 2 isoform X1

    7. XM_054316662.1 → XP_054172637.1  testis-expressed protein 2 isoform X3

      UniProtKB/Swiss-Prot
      Q6AHZ5, Q8IWB9, Q8N3L0, Q9C0C5

    8. XM_054316657.1 → XP_054172632.1  testis-expressed protein 2 isoform X1

    9. XM_054316659.1 → XP_054172634.1  testis-expressed protein 2 isoform X1

    10. XM_054316666.1 → XP_054172641.1  testis-expressed protein 2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWB9.2 GenPept UniProtKB/Swiss-Prot:Q8IWB9

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