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TMEM249 transmembrane protein 249 [ Homo sapiens (human) ]

Gene ID: 340393, updated on 25-Jan-2022

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, Nov 2021]
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

See TMEM249 in Genome Data Viewer
Location:
8q24.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144353228..144354931, complement)
105.20201022 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 diacylglycerol O-acyltransferase 1 Neighboring gene microRNA 6848 Neighboring gene scratch family transcriptional repressor 1 Neighboring gene F-box and leucine rich repeat protein 6 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 gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
transmembrane protein 249
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_001252402.3NP_001239331.1  transmembrane protein 249 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  transmembrane protein 249 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
    Related
    ENSP00000457580.1, ENST00000562477.1
    Conserved Domains (1) summary
    pfam15158
    Location:2750
    DUF4579; Domain of unknown function (DUF4579)
  3. NM_001280561.2NP_001267490.1  transmembrane protein 249 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
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654716.1 Reference GRCh38.p13 PATCHES

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