TMEM104 transmembrane protein 104 [Homo sapiens (human)] - Gene

Summary

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
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
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Genomic context

Location:: 17q25.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (74776499..74839753)
110	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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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Markers

RH119143 (e-PCR)
- UniSTS:139035

AF007378 (e-PCR)
- UniSTS:13562

Homology

Homologs of the TMEM104 gene: The TMEM104 gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 461 organisms have orthologs with human gene TMEM104
Orthologs

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

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Preferred Names: transmembrane protein 104

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)

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
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, Q9NXH1

UniProtKB/TrEMBL

A0A024R8L3

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: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

74776499..74839753

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

cl00456
Location:208 → 442

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_047436329.1 → XP_047292285.1 transmembrane protein 104 isoform X4
XM_017024799.3 → XP_016880288.1 transmembrane protein 104 isoform X5
XM_017024798.3 → XP_016880287.1 transmembrane protein 104 isoform X3
XM_017024797.2 → XP_016880286.1 transmembrane protein 104 isoform X2