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TMEM249 transmembrane protein 249 [ Homo sapiens (human) ]

Gene ID: 340393, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in testis (RPKM 4.2), duodenum (RPKM 1.6) and 23 other tissues See more
Orthologs
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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: 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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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)

Genotypes

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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