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    TMEM245 transmembrane protein 245 [ Homo sapiens (human) ]

    Gene ID: 23731, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM245provided by HGNC
    Official Full Name
    transmembrane protein 245provided by HGNC
    Primary source
    HGNC:HGNC:1363
    See related
    Ensembl:ENSG00000106771 MIM:620252; AllianceGenome:HGNC:1363
    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
    CG2; CG-2; C9orf5
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 48.4), adrenal (RPKM 29.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM245 in Genome Data Viewer
    Location:
    9q31.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (109015135..109119947, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (121184210..121289014, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (111777415..111882227, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20160 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:111713956-111715155 Neighboring gene actin binding transcription modulator Neighboring gene catenin alpha like 1 Neighboring gene uncharacterized LOC105376216 Neighboring gene RNA, 5.8S ribosomal pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:111774967-111775470 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:111798078-111799277 Neighboring gene microRNA 32 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20164 Neighboring gene ferric chelate reductase 1 like Neighboring gene Sharpr-MPRA regulatory region 1434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:111947797-111948296 Neighboring gene erythrocyte membrane protein band 4.1 like 4B Neighboring gene RNA, U6 small nuclear 984, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene. Chadwick BP, et al. Gene, 1999 Nov 15. PMID 10564813
    2. BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies. Xu C, et al. PLoS One, 2013. PMID 23382809, Free PMC Article
    3. Whole genome association scan for genetic polymorphisms influencing information processing speed. Luciano M, et al. Biol Psychol, 2011 Mar. PMID 21130836, Free PMC Article
    4. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Perry JR, et al. Nature, 2014 Oct 2. PMID 25231870, Free PMC Article
    5. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. we detected five SNPs in the first two genes/loci - BCL9 and C9orf5 - strongly associated with negative symptoms of schizophrenia
      Title: BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies.
    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
    BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Whole genome association scan for genetic polymorphisms influencing information processing speed.
    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

    Clone Names

    • FLJ23668, FLJ33224

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 245
    Names
    protein CG-2
    transmembrane protein C9orf5

    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_032012.4 → NP_114401.2  transmembrane protein 245

      See identical proteins and their annotated locations for NP_114401.2

      Status: VALIDATED

      Source sequence(s)
      AL354797, AL358815, AL556162, BC014248, BE675782, BM817899, BP351493, BP360669, DC341553
      Consensus CDS
      CCDS43858.1
      UniProtKB/Swiss-Prot
      B4DSW7, Q5JTQ5, Q5SS43, Q6ZME3, Q8NDJ5, Q96CG6, Q9H330
      Related
      ENSP00000363714.3, ENST00000374586.8
      Conserved Domains (1) summary
      cl00465
      Location:594 → 840
      AI-2E_transport; AI-2E family transporter

    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
      109015135..109119947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423140.1 → XP_047279096.1  transmembrane protein 245 isoform X7

    2. XM_011518449.3 → XP_011516751.1  transmembrane protein 245 isoform X4

      Conserved Domains (1) summary
      cl00465
      Location:555 → 801
      UPF0118; Domain of unknown function DUF20

    3. XM_047423142.1 → XP_047279098.1  transmembrane protein 245 isoform X10

    4. XM_017014572.2 → XP_016870061.1  transmembrane protein 245 isoform X9

    5. XM_011518452.3 → XP_011516754.1  transmembrane protein 245 isoform X8

      Conserved Domains (1) summary
      cl00465
      Location:516 → 762
      UPF0118; Domain of unknown function DUF20

    6. XM_047423139.1 → XP_047279095.1  transmembrane protein 245 isoform X6

    7. XM_017014571.2 → XP_016870060.1  transmembrane protein 245 isoform X3

    8. XM_011518446.3 → XP_011516748.1  transmembrane protein 245 isoform X1

      Conserved Domains (1) summary
      cl00465
      Location:593 → 839
      UPF0118; Domain of unknown function DUF20

    9. XM_011518451.2 → XP_011516753.1  transmembrane protein 245 isoform X5

      Conserved Domains (1) summary
      cl00465
      Location:551 → 797
      UPF0118; Domain of unknown function DUF20

    10. XM_011518447.2 → XP_011516749.1  transmembrane protein 245 isoform X2

      UniProtKB/TrEMBL
      H7C0G1
      Related
      ENSP00000394798.3, ENST00000413712.7
      Conserved Domains (1) summary
      cl00465
      Location:586 → 832
      UPF0118; Domain of unknown function DUF20

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      121184210..121289014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362596.1 → XP_054218571.1  transmembrane protein 245 isoform X7

    2. XM_054362593.1 → XP_054218568.1  transmembrane protein 245 isoform X4

    3. XM_054362599.1 → XP_054218574.1  transmembrane protein 245 isoform X10

    4. XM_054362598.1 → XP_054218573.1  transmembrane protein 245 isoform X9

    5. XM_054362597.1 → XP_054218572.1  transmembrane protein 245 isoform X8

    6. XM_054362595.1 → XP_054218570.1  transmembrane protein 245 isoform X6

    7. XM_054362592.1 → XP_054218567.1  transmembrane protein 245 isoform X3

    8. XM_054362590.1 → XP_054218565.1  transmembrane protein 245 isoform X1

    9. XM_054362594.1 → XP_054218569.1  transmembrane protein 245 isoform X5

    10. XM_054362591.1 → XP_054218566.1  transmembrane protein 245 isoform X2

      UniProtKB/TrEMBL
      H7C0G1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001099734.1: Suppressed sequence

      Description
      NM_001099734.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H330.3 GenPept UniProtKB/Swiss-Prot:Q9H330

    Gene LinkOut

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

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