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TEX48 testis expressed 48 [ Homo sapiens (human) ]

Gene ID: 100505478, updated on 17-Sep-2024

Summary

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Official Symbol
TEX48provided by HGNC
Official Full Name
testis expressed 48provided by HGNC
Primary source
HGNC:HGNC:52393
See related
Ensembl:ENSG00000230601 AllianceGenome:HGNC:52393
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
Expression
Restricted expression toward testis (RPKM 6.4) See more
Orthologs
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Genomic context

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See TEX48 in Genome Data Viewer
Location:
9q32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (114666434..114682192, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (126858843..126874605, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (117428714..117444472, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987121 Neighboring gene testis expressed 53 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117452852-117454051 Neighboring gene uncharacterized LOC105376231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28878 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117480617-117481816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28880 Neighboring gene TNF superfamily member 15

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
  • 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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Related articles in PubMed

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

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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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
testis-expressed protein 48

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_001199233.2 → NP_001186162.1  testis-expressed protein 48 isoform 1

    See identical proteins and their annotated locations for NP_001186162.1

    Status: VALIDATED

    Source sequence(s)
    AL160275
    Consensus CDS
    CCDS83406.1
    UniProtKB/Swiss-Prot
    A0A1B0GUV7
    Related
    ENSP00000490263.1, ENST00000436752.3

  2. NM_001371884.1 → NP_001358813.1  testis-expressed protein 48 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL160275

RNA

  1. NR_133056.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL160275

  2. NR_144867.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL160275
    Related
    ENST00000612244.5

  3. NR_163988.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL160275

  4. NR_163989.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL160275

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
    114666434..114682192 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    126858843..126874605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A1B0GUV7.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GUV7

Gene LinkOut

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

Molecular Biology Databases
Research Materials