U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    TMEM249 transmembrane protein 249 [ Homo sapiens (human) ]

    Gene ID: 340393, updated on 5-Mar-2024

    Summary

    Official Symbol
    TMEM249provided by HGNC
    Official Full Name
    transmembrane protein 249provided by HGNC
    Primary source
    HGNC:HGNC:44155
    See related
    Ensembl:ENSG00000261587 AllianceGenome:HGNC:44155
    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
    C8ORFK29
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 4.2), duodenum (RPKM 1.6) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TMEM249 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144353228..144354931, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145521857..145523560, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145576888..145578591, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28093 Neighboring gene diacylglycerol O-acyltransferase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145543593-145544435 Neighboring gene microRNA 6848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145555531-145556238 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145556239-145556947 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145556948-145557655 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145558559-145559174 Neighboring gene scratch family transcriptional repressor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145559298-145559484 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145566939-145567080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145579988-145580524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19677 Neighboring gene F-box and leucine rich repeat protein 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145583746-145584281 Neighboring gene solute carrier family 52 member 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    General protein information

    Preferred Names
    cation channel sperm-associated auxiliary subunit TMEM249
    Names
    putative transmembrane protein C8orfK29

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001252402.3NP_001239331.1  cation channel sperm-associated auxiliary subunit TMEM249 isoform 1

      See identical proteins and their annotated locations for NP_001239331.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 4 encoded the same isoform (1).
      Source sequence(s)
      AA781425, BC127763, BX089061, HY019398
      Consensus CDS
      CCDS59117.1
      UniProtKB/Swiss-Prot
      Q2WGJ8
      Related
      ENSP00000454468.1, ENST00000565365.1
      Conserved Domains (1) summary
      pfam15158
      Location:27209
      DUF4579; Domain of unknown function (DUF4579)
    2. NM_001252404.3NP_001239333.1  cation channel sperm-associated auxiliary subunit TMEM249 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA781425, BC127763, HY019398
      UniProtKB/TrEMBL
      A0A075B740
      Related
      ENSP00000457580.1, ENST00000562477.1
      Conserved Domains (1) summary
      pfam15158
      Location:2750
      DUF4579; Domain of unknown function (DUF4579)
    3. NM_001280561.2NP_001267490.1  cation channel sperm-associated auxiliary subunit TMEM249 isoform 1

      See identical proteins and their annotated locations for NP_001267490.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AC233992
      Consensus CDS
      CCDS59117.1
      UniProtKB/Swiss-Prot
      Q2WGJ8
      Related
      ENSP00000512438.1, ENST00000696146.1
      Conserved Domains (1) summary
      pfam15158
      Location:27209
      DUF4579; Domain of unknown function (DUF4579)

    RNA

    1. NR_047684.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA781425, BC141966, HY019398
      Related
      ENST00000696145.1

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144353228..144354931 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654716.1 Reference GRCh38.p14 PATCHES

      Range
      83831..85534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145521857..145523560 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)