Seroatlas · Human Serome Atlas

TMEM147

BOS complex subunit TMEM147

Also known as: MGC1936, NIFIE14, TM147_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BVK8
Gene: TMEM147
Ensembl: ENSG00000105677
Chromosome: 19
Canonical length: 224 aa
Protein class: Disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Enables ribosome binding activity. Involved in multi-pass transmembrane protein insertion into ER membrane and protein localization to nuclear inner membrane. Located in nuclear membrane. Part of multi-pass translocon complex. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

224 residues, UniProt reviewed canonical sequence.

>Q9BVK8|TMEM147
     1  MTLFHFGNCF ALAYFPYFIT YKCSGLSEYN AFWKCVQAGV TYLFVQLCKM LFLATFFPTW
    61  EGGIYDFIGE FMKASVDVAD LIGLNLVMSR NAGKGEYKIM VAALGWATAE LIMSRCIPLW
   121  VGARGIEFDW KYIQMSIDSN ISLVHYIVAS AQVWMITRYD LYHTFRPAVL LLMFLSVYKA
   181  FVMETFVHLC SLGSWAALLA RAVVTGLLAL STLALYVAVV NVHS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM147 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 7
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 272 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 272 nTPM
adrenal gland: 149 nTPM
pancreas: 143 nTPM
skeletal muscle: 138 nTPM
parathyroid gland: 121 nTPM
skin: 118 nTPM

Single-cell type

esophageal apical cells: 703 nCPM
late spermatids: 561 nCPM
esophageal suprabasal cells: 513 nCPM
early primary spermatocytes: 348 nCPM
hofbauer cells: 295 nCPM
esophageal basal cells: 283 nCPM

Immune cell

plasmacytoid DC: 238 nTPM
total PBMC: 238 nTPM
classical monocyte: 220 nTPM
intermediate monocyte: 213 nTPM
myeloid DC: 200 nTPM
memory B-cell: 178 nTPM

Brain region

choroid plexus: 139 nTPM
cerebellum: 69 nTPM
white matter: 69 nTPM
hypothalamus: 66 nTPM
spinal cord: 62 nTPM
medulla oblongata: 62 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM147.

Disease | AllUniProt

Conditions TMEM147 is implicated in, by any mechanism.

Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly (NEDFLPH) MIM:620075

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 68 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Abnormal facial shape
Absent speech
Severe intellectual disability
Motor delay

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.07
gnomAD pLI: 0
gnomAD missense Z: 0.49
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

ribosome binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Transmembrane protein 147
Predicted membrane protein (DUF2053)

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TMEM147 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM147 as an antibody target. Whether an autoantibody or antibody against TMEM147 could matter depends on whether native TMEM147 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM147 is annotated at the cell surface, where native TMEM147 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TMEM147 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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