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    TMEM225B transmembrane protein 225B [ Homo sapiens (human) ]

    Gene ID: 100289187, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM225Bprovided by HGNC
    Official Full Name
    transmembrane protein 225Bprovided by HGNC
    Primary source
    HGNC:HGNC:53075
    See related
    Ensembl:ENSG00000244219 AllianceGenome:HGNC:53075
    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
    GS1-259H13.2
    Summary
    Predicted to be involved in negative regulation of phosphatase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 71.2) See more
    Orthologs
    all
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    Genomic context

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    See TMEM225B in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99598058..99611045)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100837398..100850372)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99195890..99208668)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26326 Neighboring gene family with sequence similarity 200 member A Neighboring gene zinc finger protein 655 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:99213715-99214694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99227460-99228106 Neighboring gene zinc finger and SCAN domain containing 25 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99236540-99236705 Neighboring gene ARF GTPase 6 pseudogene Neighboring gene cytochrome P450 family 3 subfamily A member 5 Neighboring gene CYP3A5 promoter

    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. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. Polasek O, et al. Croat Med J, 2009 Feb. PMID 19260139, Free PMC Article
    2. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. Hou P, et al. Cancer Res, 2017 Aug 15. PMID 28625976, Free PMC Article
    3. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
    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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 225B
    Names
    transmembrane protein 225-like

    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_001195541.3 → NP_001182470.1  transmembrane protein 225B

      See identical proteins and their annotated locations for NP_001182470.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 all encode the same protein.
      Source sequence(s)
      AA781117, DB462723, DB477974, HY200726
      Consensus CDS
      CCDS87525.1
      UniProtKB/Swiss-Prot
      P0DP42
      Related
      ENSP00000492416.1, ENST00000431679.6
      Conserved Domains (1) summary
      cl21598
      Location:26 → 170
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    2. NM_001195542.3 → NP_001182471.1  transmembrane protein 225B

      See identical proteins and their annotated locations for NP_001182471.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 all encode the same protein.
      Source sequence(s)
      AI028251, BG461486, DB456868, DB477974, HY200726
      Consensus CDS
      CCDS87525.1
      UniProtKB/Swiss-Prot
      P0DP42
      Conserved Domains (1) summary
      cl21598
      Location:26 → 170
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    3. NM_001195543.3 → NP_001182472.1  transmembrane protein 225B

      See identical proteins and their annotated locations for NP_001182472.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 all encode the same protein.
      Source sequence(s)
      AA781117, AI028251, BI559535, DB477974, HY200726
      Consensus CDS
      CCDS87525.1
      UniProtKB/Swiss-Prot
      P0DP42
      Related
      ENSP00000491691.1, ENST00000453227.5
      Conserved Domains (1) summary
      cl21598
      Location:26 → 170
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      99598058..99611045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515697.2 → XP_011513999.1  transmembrane protein 225B isoform X2

      See identical proteins and their annotated locations for XP_011513999.1

      Conserved Domains (1) summary
      cl21598
      Location:41 → 185
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    2. XM_005250088.6 → XP_005250145.1  transmembrane protein 225B isoform X3

      See identical proteins and their annotated locations for XP_005250145.1

      UniProtKB/Swiss-Prot
      P0DP42
      Conserved Domains (1) summary
      cl21598
      Location:26 → 170
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    3. XM_047419688.1 → XP_047275644.1  transmembrane protein 225B isoform X2

    4. XM_024446625.2 → XP_024302393.1  transmembrane protein 225B isoform X3

      UniProtKB/Swiss-Prot
      P0DP42

    5. XM_011515696.3 → XP_011513998.1  transmembrane protein 225B isoform X2

      See identical proteins and their annotated locations for XP_011513998.1

      Conserved Domains (1) summary
      cl21598
      Location:41 → 185
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    6. XM_011515699.3 → XP_011514001.1  transmembrane protein 225B isoform X3

      See identical proteins and their annotated locations for XP_011514001.1

      UniProtKB/Swiss-Prot
      P0DP42
      Conserved Domains (1) summary
      cl21598
      Location:26 → 170
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    7. XM_024446622.2 → XP_024302390.1  transmembrane protein 225B isoform X2

    8. XM_047419690.1 → XP_047275646.1  transmembrane protein 225B isoform X3

      UniProtKB/Swiss-Prot
      P0DP42

    9. XM_047419687.1 → XP_047275643.1  transmembrane protein 225B isoform X2

    10. XM_024446624.2 → XP_024302392.1  transmembrane protein 225B isoform X3

      UniProtKB/Swiss-Prot
      P0DP42

    11. XM_047419689.1 → XP_047275645.1  transmembrane protein 225B isoform X2

    12. XM_047419691.1 → XP_047275647.1  transmembrane protein 225B isoform X3

      UniProtKB/Swiss-Prot
      P0DP42

    13. XM_011515691.3 → XP_011513993.1  transmembrane protein 225B isoform X2

      See identical proteins and their annotated locations for XP_011513993.1

      Conserved Domains (1) summary
      cl21598
      Location:41 → 185
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    14. XM_011515692.3 → XP_011513994.1  transmembrane protein 225B isoform X2

      See identical proteins and their annotated locations for XP_011513994.1

      Conserved Domains (1) summary
      cl21598
      Location:41 → 185
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    15. XM_011515695.3 → XP_011513997.1  transmembrane protein 225B isoform X2

      See identical proteins and their annotated locations for XP_011513997.1

      Conserved Domains (1) summary
      cl21598
      Location:41 → 185
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    16. XM_011515694.3 → XP_011513996.1  transmembrane protein 225B isoform X2

      See identical proteins and their annotated locations for XP_011513996.1

      Conserved Domains (1) summary
      cl21598
      Location:41 → 185
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    17. XM_024446623.2 → XP_024302391.1  transmembrane protein 225B isoform X3

      UniProtKB/Swiss-Prot
      P0DP42

    18. XM_024446621.2 → XP_024302389.1  transmembrane protein 225B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      100837398..100850372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356961.1 → XP_054212936.1  transmembrane protein 225B isoform X3

      UniProtKB/Swiss-Prot
      P0DP42

    2. XM_054356957.1 → XP_054212932.1  transmembrane protein 225B isoform X2

    3. XM_054356959.1 → XP_054212934.1  transmembrane protein 225B isoform X3

      UniProtKB/Swiss-Prot
      P0DP42

    4. XM_054356960.1 → XP_054212935.1  transmembrane protein 225B isoform X3

      UniProtKB/Swiss-Prot
      P0DP42

    5. XM_054356962.1 → XP_054212937.1  transmembrane protein 225B isoform X3

      UniProtKB/Swiss-Prot
      P0DP42

    6. XM_054356958.1 → XP_054212933.1  transmembrane protein 225B isoform X2

    7. XM_054356953.1 → XP_054212928.1  transmembrane protein 225B isoform X2

    8. XM_054356954.1 → XP_054212929.1  transmembrane protein 225B isoform X2

    9. XM_054356955.1 → XP_054212930.1  transmembrane protein 225B isoform X2

    10. XM_054356956.1 → XP_054212931.1  transmembrane protein 225B isoform X2

    11. XM_054356963.1 → XP_054212938.1  transmembrane protein 225B isoform X3

      UniProtKB/Swiss-Prot
      P0DP42

    12. XM_054356952.1 → XP_054212927.1  transmembrane protein 225B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DP42.1 GenPept UniProtKB/Swiss-Prot:P0DP42

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