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    TMEM249 transmembrane protein 249 [ Homo sapiens (human) ]

    Gene ID: 340393, updated on 10-Dec-2024

    Summary

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    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 located in sperm principal piece. Predicted to be part of CatSper complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 4.2), duodenum (RPKM 1.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM249 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144353228..144354931, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145521857..145523560, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of CatSper complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm principal piece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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

    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_001252402.3 → NP_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:27 → 209
      DUF4579; Domain of unknown function (DUF4579)

    2. NM_001252404.3 → NP_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:27 → 50
      DUF4579; Domain of unknown function (DUF4579)

    3. NM_001280561.2 → NP_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:27 → 209
      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_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2WGJ8.1 GenPept UniProtKB/Swiss-Prot:Q2WGJ8

    Gene LinkOut

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