U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TMEM104 transmembrane protein 104 [ Homo sapiens (human) ]

Gene ID: 54868, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
TMEM104provided by HGNC
Official Full Name
transmembrane protein 104provided by HGNC
Primary source
HGNC:HGNC:25984
See related
Ensembl:ENSG00000109066 AllianceGenome:HGNC:25984
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
SLC38A12
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 2.7), thyroid (RPKM 2.1) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
17q25.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74776499..74839753)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75668389..75731527)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72772638..72835892)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SLC9A3R1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8939 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72745205-72745830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72747322-72747863 Neighboring gene microRNA 3615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72753485-72754231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72754232-72754979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72754980-72755726 Neighboring gene NHERF family PDZ scaffold protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72755727-72756474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72759127-72759878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8941 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779452-72779972 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779973-72780491 Neighboring gene N-acetyltransferase 9 (putative) Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:72781052-72781552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72808337-72809052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72824331-72824831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72827400-72828320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8944 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2C Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72850908-72851103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72856835-72857533 Neighboring gene Sharpr-MPRA regulatory region 86 Neighboring gene ferredoxin reductase

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  2. Defining the human deubiquitinating enzyme interaction landscape. Sowa ME, et al. Cell, 2009 Jul 23. PMID 19615732, Free PMC Article
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Olsen JV, et al. Cell, 2006 Nov 3. PMID 17081983
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ00021, FLJ20255

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
transmembrane protein 104

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_001321264.3 → NP_001308193.1  transmembrane protein 104 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK000262, CN479614, DN999695
    Consensus CDS
    CCDS82201.1
    UniProtKB/Swiss-Prot
    Q8NE00
    Related
    ENSP00000463205.1, ENST00000582773.5

  2. NM_017728.4 → NP_060198.3  transmembrane protein 104 isoform 1

    See identical proteins and their annotated locations for NP_060198.3

    Status: VALIDATED

    Source sequence(s)
    AC068874, AK074029, CN479614, DN999695
    Consensus CDS
    CCDS32723.1
    UniProtKB/Swiss-Prot
    Q8NE00, Q8TEU1, Q9NT56, Q9NXH1
    UniProtKB/TrEMBL
    A8K544
    Related
    ENSP00000334849.5, ENST00000335464.10
    Conserved Domains (1) summary
    cl00456
    Location:209 → 443
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    74776499..74839753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721963.3 → XP_006722026.1  transmembrane protein 104 isoform X1

    UniProtKB/TrEMBL
    A8K544
    Conserved Domains (1) summary
    cl00456
    Location:208 → 442
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  2. XM_047436329.1 → XP_047292285.1  transmembrane protein 104 isoform X4

  3. XM_017024799.3 → XP_016880288.1  transmembrane protein 104 isoform X5

  4. XM_017024798.3 → XP_016880287.1  transmembrane protein 104 isoform X3

  5. XM_017024797.2 → XP_016880286.1  transmembrane protein 104 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    75668389..75731527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316567.1 → XP_054172542.1  transmembrane protein 104 isoform X1

  2. XM_054316570.1 → XP_054172545.1  transmembrane protein 104 isoform X4

  3. XM_054316571.1 → XP_054172546.1  transmembrane protein 104 isoform X5

  4. XM_054316569.1 → XP_054172544.1  transmembrane protein 104 isoform X3

  5. XM_054316568.1 → XP_054172543.1  transmembrane protein 104 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NE00.2 GenPept UniProtKB/Swiss-Prot:Q8NE00

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous