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    TMEM268 transmembrane protein 268 [ Homo sapiens (human) ]

    Gene ID: 203197, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM268provided by HGNC
    Official Full Name
    transmembrane protein 268provided by HGNC
    Primary source
    HGNC:HGNC:24513
    See related
    Ensembl:ENSG00000157693 AllianceGenome:HGNC:24513
    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
    C9orf91
    Summary
    Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.4), spleen (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM268 in Genome Data Viewer
    Location:
    9q32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (114603904..114646422)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (126796322..126838835)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (117373571..117408702)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376229 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:117345492-117345996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117348508-117349327 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117349328-117350146 Neighboring gene ATPase H+ transporting V1 subunit G1 Neighboring gene MPRA-validated peak7324 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28873 Neighboring gene NANOG hESC enhancer GRCh37_chr9:117415620-117416126 Neighboring gene uncharacterized LOC107987121 Neighboring gene testis expressed 53

    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 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. Deletion of TMEM268 inhibits growth of gastric cancer cells by downregulating the ITGB4 signaling pathway. Hong D, et al. Cell Death Differ, 2019 Aug. PMID 30361615, Free PMC Article
    2. Deletion of Tmem268 in mice suppresses anti-infectious immune responses by downregulating CD11b signaling. Duan M, et al. EMBO Rep, 2024 Jun. PMID 38730209, Free PMC Article
    3. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
    4. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    5. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deletion of TMEM268 inhibits growth of gastric cancer cells by downregulating the ITGB4 signaling pathway.
      Title: Deletion of TMEM268 inhibits growth of gastric cancer cells by downregulating the ITGB4 signaling pathway.
    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

    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

    • FLJ38045, MGC129868, MGC129869, DKFZp547P234

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 268
    Names
    transmembrane protein C9orf91

    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_001330760.2 → NP_001317689.1  transmembrane protein 268 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL160275, AL557166, AL834412, AW963631, BC010029, CB121579, DB199443, HY066490
      Consensus CDS
      CCDS83405.1
      UniProtKB/TrEMBL
      A8K018
      Related
      ENSP00000363161.4, ENST00000374049.4

    2. NM_153045.4 → NP_694590.2  transmembrane protein 268 isoform 1

      See identical proteins and their annotated locations for NP_694590.2

      Status: VALIDATED

      Source sequence(s)
      AK095364, AL160275, BC010029, BC107133, DB199443
      Consensus CDS
      CCDS6808.1
      UniProtKB/Swiss-Prot
      A0PJA3, Q3KNS4, Q5VZI2, Q5VZI3, Q6P5Z7, Q8N1P3, Q8ND43
      UniProtKB/TrEMBL
      A8K018
      Related
      ENSP00000288502.4, ENST00000288502.9
      Conserved Domains (1) summary
      pfam14800
      Location:38 → 328
      DUF4481; Domain of unknown function (DUF4481)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      114603904..114646422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518351.3 → XP_011516653.1  transmembrane protein 268 isoform X1

      See identical proteins and their annotated locations for XP_011516653.1

      UniProtKB/TrEMBL
      A8K018
      Conserved Domains (1) summary
      pfam14800
      Location:104 → 395
      DUF4481; Domain of unknown function (DUF4481)

    2. XM_047422925.1 → XP_047278881.1  transmembrane protein 268 isoform X6

      UniProtKB/Swiss-Prot
      A0PJA3, Q3KNS4, Q5VZI2, Q5VZI3, Q6P5Z7, Q8N1P3, Q8ND43

    3. XM_011518350.2 → XP_011516652.1  transmembrane protein 268 isoform X1

      See identical proteins and their annotated locations for XP_011516652.1

      UniProtKB/TrEMBL
      A8K018
      Conserved Domains (1) summary
      pfam14800
      Location:104 → 395
      DUF4481; Domain of unknown function (DUF4481)

    4. XM_011518353.2 → XP_011516655.1  transmembrane protein 268 isoform X3

      UniProtKB/TrEMBL
      A8K018
      Conserved Domains (1) summary
      pfam14800
      Location:104 → 358
      DUF4481; Domain of unknown function (DUF4481)

    5. XM_011518352.2 → XP_011516654.1  transmembrane protein 268 isoform X2

      UniProtKB/TrEMBL
      A8K018
      Conserved Domains (1) summary
      pfam14800
      Location:104 → 394
      DUF4481; Domain of unknown function (DUF4481)

    6. XM_047422923.1 → XP_047278879.1  transmembrane protein 268 isoform X4

    7. XM_047422927.1 → XP_047278883.1  transmembrane protein 268 isoform X9

    8. XM_047422928.1 → XP_047278884.1  transmembrane protein 268 isoform X10

    9. XM_024447441.1 → XP_024303209.1  transmembrane protein 268 isoform X6

      UniProtKB/Swiss-Prot
      A0PJA3, Q3KNS4, Q5VZI2, Q5VZI3, Q6P5Z7, Q8N1P3, Q8ND43
      UniProtKB/TrEMBL
      A8K018
      Conserved Domains (1) summary
      pfam14800
      Location:38 → 328
      DUF4481; Domain of unknown function (DUF4481)

    10. XM_047422924.1 → XP_047278880.1  transmembrane protein 268 isoform X5

    11. XM_011518354.2 → XP_011516656.1  transmembrane protein 268 isoform X7

      UniProtKB/TrEMBL
      A8K018
      Conserved Domains (1) summary
      pfam14800
      Location:17 → 308
      DUF4481; Domain of unknown function (DUF4481)

    12. XM_047422929.1 → XP_047278885.1  transmembrane protein 268 isoform X11

    13. XM_011518355.2 → XP_011516657.1  transmembrane protein 268 isoform X8

      See identical proteins and their annotated locations for XP_011516657.1

      UniProtKB/TrEMBL
      A8K018
      Conserved Domains (1) summary
      pfam14800
      Location:17 → 307
      DUF4481; Domain of unknown function (DUF4481)

    14. XM_017014430.2 → XP_016869919.1  transmembrane protein 268 isoform X12

    RNA

    1. XR_001746225.2 RNA Sequence

    2. XR_007061260.1 RNA Sequence

    3. XR_001746226.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      126796322..126838835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362258.1 → XP_054218233.1  transmembrane protein 268 isoform X1

    2. XM_054362263.1 → XP_054218238.1  transmembrane protein 268 isoform X6

      UniProtKB/Swiss-Prot
      A0PJA3, Q3KNS4, Q5VZI2, Q5VZI3, Q6P5Z7, Q8N1P3, Q8ND43

    3. XM_054362257.1 → XP_054218232.1  transmembrane protein 268 isoform X1

    4. XM_054362260.1 → XP_054218235.1  transmembrane protein 268 isoform X3

    5. XM_054362259.1 → XP_054218234.1  transmembrane protein 268 isoform X2

    6. XM_054362261.1 → XP_054218236.1  transmembrane protein 268 isoform X4

    7. XM_054362267.1 → XP_054218242.1  transmembrane protein 268 isoform X9

    8. XM_054362268.1 → XP_054218243.1  transmembrane protein 268 isoform X10

    9. XM_054362264.1 → XP_054218239.1  transmembrane protein 268 isoform X6

      UniProtKB/Swiss-Prot
      A0PJA3, Q3KNS4, Q5VZI2, Q5VZI3, Q6P5Z7, Q8N1P3, Q8ND43

    10. XM_054362262.1 → XP_054218237.1  transmembrane protein 268 isoform X5

    11. XM_054362265.1 → XP_054218240.1  transmembrane protein 268 isoform X7

    12. XM_054362269.1 → XP_054218244.1  transmembrane protein 268 isoform X11

    13. XM_054362266.1 → XP_054218241.1  transmembrane protein 268 isoform X8

    14. XM_054362270.1 → XP_054218245.1  transmembrane protein 268 isoform X12

    RNA

    1. XR_008487959.1 RNA Sequence

    2. XR_008487960.1 RNA Sequence

    3. XR_008487961.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VZI3.1 GenPept UniProtKB/Swiss-Prot:Q5VZI3

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