Seroatlas · Human Serome Atlas

TMEM94

Transmembrane protein 94

Also known as: KIAA0195, TMM94_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q12767
Gene: TMEM94
Ensembl: ENSG00000177728
Chromosome: 17
Canonical length: 1356 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm,Nuclear bodies
Quaternary structure: Homooligomer

OverviewNCBI Gene

Enables P-type magnesium transporter activity. Involved in magnesium ion transport from cytosol to endoplasmic reticulum. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1356 residues, UniProt reviewed canonical sequence.

>Q12767|TMEM94
     1  MDLKEKHLGE PPSALGLSTR KALSVLKEQL EAVLEGHLRE RKKCLTWKEV WRSSFLHHSN
    61  RCSCFHWPGA SLMLLAVLLL LGCCGGQPAG SRGVGLVNAS ALFLLLLLNL VLIGRQDRLK
   121  RREVERRLRG IIDQIQDALR DGREIQWPSA MYPDLHMPFA PSWSLHWAYR DGHLVNLPVS
   181  LLVEGDIIAL RPGQESFASL RGIKDDEHIV LEPGDLFPPF SPPPSPRGEV ERGPQSPQQH
   241  RLFRVLETPV IDNIRWCLDM ALSRPVTALD NERFTVQSVM LHYAVPVVLA GFLITNALRF
   301  IFSAPGVTSW QYTLLQLQVN GVLPILPLLF PVLWVLATAC GEARVLAQMS KASPSSLLAK
   361  FSEDTLSSYT EAVSSQEMLR CIWGHFLRVL GGTSPTLSHS SSLLHSLGSV TVLCCVDKQG
   421  ILSWPNPSPE TVLFFSGKVE PPHSSHEDLT DGLSTRSFCH PEPHERDALL AGSLNNTLHL
   481  SNEQERGDWP GEAPKPPEPY SHHKAHGRSK HPSGSNVSFS RDTEGGEEEP SKTQPGMESD
   541  PYEAEDFVCD YHLEMLSLSQ DQQNPSCIQF DDSNWQLHLT SLKPLGLNVL LNLCDASVTE
   601  RLCRFSDHLC NIALQESHSA VLPVHVPWGL CELARLIGFT PGAKELFKQE NHLALYRLPS
   661  AETMKETSLG RLSCVTKRRP PLSHMISLFI KDTTTSTEQM LSHGTADVVL EACTDFWDGA
   721  DIYPLSGSDR KKVLDFYQRA CLSGYCSAFA YKPMNCALSS QLNGKCIELV QVPGQSSIFT
   781  MCELPSTIPI KQNARRSSWS SDEGIGEVLE KEDCMQALSG QIFMGMVSSQ YQARLDIVRL
   841  IDGLVNACIR FVYFSLEDEL KSKVFAEKMG LETGWNCHIS LTPNGDMPGS EIPPSSPSHA
   901  GSLHDDLNQV SRDDAEGLLL MEEEGHSDLI SFQPTDSDIP SFLEDSNRAK LPRGIHQVRP
   961  HLQNIDNVPL LVPLFTDCTP ETMCEMIKIM QEYGEVTCCL GSSANLRNSC LFLQSDISIA
  1021  LDPLYPSRCS WETFGYATSI SMAQASDGLS PLQLSGQLNS LPCSLTFRQE ETISIIRLIE
  1081  QARHATYGIR KCFLFLLQCQ LTLVVIQFLS CLVQLPPLLS TTDILWLSCF CYPLLSISLL
  1141  GKPPHSSIMS MATGKNLQSI PKKTQHYFLL CFLLKFSLTI SSCLICFGFT LQSFCDSSRD
  1201  RNLTNCSSVM LPSNDDRAPA WFEDFANGLL SAQKLTAALI VLHTVFISIT HVHRTKPLWR
  1261  KSPLTNLWWA VTVPVVLLGQ VVQTAVDLQL WTHRDSHVHF GLEDVPLLTW LLGCLSLVLV
  1321  VVTNEIVKLH EIRVRVRYQK RQKLQFETKL GMNSPF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM94 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: Other membrane
Secreted: No
Transmembrane segments: 10
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 71 nTPM

Expression across tissuesHPA

Tissue

basal ganglia: 71 nTPM
cerebral cortex: 70 nTPM
skeletal muscle: 63 nTPM
amygdala: 60 nTPM
adrenal gland: 60 nTPM
cerebellum: 47 nTPM

Single-cell type

retinal bipolar cells: 107 nCPM
cone photoreceptor cells: 104 nCPM
rod photoreceptor cells: 98 nCPM
gonadotrophs: 65 nCPM
astrocytes: 64 nCPM
foveolar cells: 63 nCPM

Immune cell

plasmacytoid DC: 2.9 nTPM
gdT-cell: 2.6 nTPM
naive B-cell: 2.2 nTPM
NK-cell: 2.1 nTPM
total PBMC: 2.1 nTPM
classical monocyte: 2 nTPM

Brain region

amygdala: 69 nTPM
thalamus: 64 nTPM
basal ganglia: 62 nTPM
medulla oblongata: 57 nTPM
cerebral cortex: 56 nTPM
spinal cord: 54 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM94.

Disease | AllUniProt

Conditions TMEM94 is implicated in, by any mechanism.

Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF) MIM:618316

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 326 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual developmental disorder with cardiac defects and dysmorphic facies
TMEM94-related disorder
Inborn genetic diseases
Rare syndromic intellectual disability
Abnormality of the nervous system

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): 0.64
gnomAD pLI: 0
DepMap mean gene effect: -0.03
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

intracellular magnesium ion homeostasis
magnesium ion transport from cytosol to endoplasmic reticulum

Molecular functions

P-type magnesium transporter activity

Cellular components

endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

P-type ATPase, transmembrane domain superfamily
Transmembrane protein 94

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM94 as an antibody target. Whether an autoantibody or antibody against TMEM94 could matter depends on whether native TMEM94 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM94 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TMEM94 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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