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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
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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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