TMEM94 (transmembrane protein 94)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 9772
Gene name Transmembrane protein 94
Gene symbol TMEM94
Synonyms (NCBI Gene)
ERMAIDDCDFKIAA0195
Chromosome 17
Chromosome location 17q25.1
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs557746506 C>A,G,T Pathogenic Synonymous variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1163944538 ->A Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
rs1352010373 G>C Pathogenic Splice acceptor variant, genic upstream transcript variant
rs1567950778 C>- Pathogenic 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598394988 ->GC Pathogenic 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
18
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
miRTarBase ID miRNA Experiments Reference
MIRT234621 hsa-miR-181b-5p PAR-CLIP 24398324
MIRT234620 hsa-miR-181a-5p PAR-CLIP 24398324
MIRT234624 hsa-miR-4262 PAR-CLIP 24398324
MIRT234623 hsa-miR-181d-5p PAR-CLIP 24398324
MIRT234622 hsa-miR-181c-5p PAR-CLIP 24398324
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 38513662
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0006811 Process Monoatomic ion transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618163 28983 ENSG00000177728
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12767
Protein name Transmembrane protein 94 (Endoplasmic reticulum magnesium ATPase)
Protein function Could function in the uptake of Mg(2+) from the cytosol into the endoplasmic reticulum and regulate intracellular Mg(2+) homeostasis.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed ubiquitously. {ECO:0000269|PubMed:8724849}.
Sequence 
MDLKEKHLGEPPSALGLSTRKALSVLKEQLEAVLEGHLRERKKCLTWKEVWRSSFLHHSN
RCSCFHWPGASLMLLAVLLLLGCCGGQPAGSRGVGLVNASALFLLLLLNLVLIGRQDRLK
RREVERRLRGIIDQIQDALRDGREIQWPSAMYPDLHMPFAPSWSLHWAYRDGHLVNLPVS
LLVEGDIIALRPGQESFASLRGIKDDEHIVLEPGDLFPPFSPPPSPRGEVERGPQSPQQH
RLFRVLETPVIDNIRWCLDMALSRPVTALDNERFTVQSVMLHYAVPVVLAGFLITNALRF
IFSAPGVTSWQYTLLQLQVNGVLPILPLLFPVLWVLATACGEARVLAQMSKASPSSLLAK
FSEDTLSSYTEAVSSQEMLRCIWGHFLRVLGGTSPTLSHSSSLLHSLGSVTVLCCVDKQG
ILSWPNPSPETVLFFSGKVEPPHSSHEDLTDGLSTRSFCHPEPHERDALLAGSLNNTLHL
SNEQERGDWPGEAPKPPEPYSHHKAHGRSKHPSGSNVSFSRDTEGGEEEPSKTQPGMESD
PYEAEDFVCDYHLEMLSLSQDQQNPSCIQFDDSNWQLHLTSLKPLGLNVLLNLCDASVTE
RLCRFSDHLCNIALQESHSAVLPVHVPWGLCELARLIGFTPGAKELFKQENHLALYRLPS
AETMKETSLGRLSCVTKRRPPLSHMISLFIKDTTTSTEQMLSHGTADVVLEACTDFWDGA
DIYPLSGSDRKKVLDFYQRACLSGYCSAFAYKPMNCALSSQLNGKCIELVQVPGQSSIFT
MCELPSTIPIKQNARRSSWSSDEGIGEVLEKEDCMQALSGQIFMGMVSSQYQARLDIVRL
IDGLVNACIRFVYFSLEDELKSKVFAEKMGLETGWNCHISLTPNGDMPGSEIPPSSPSHA
GSLHDDLNQVSRDDAEGLLLMEEEGHSDLISFQPTDSDIPSFLEDSNRAKLPRGIHQVRP
HLQNIDNVPLLVPLFTDCTPETMCEMIKIMQEYGEVTCCLGSSANLRNSCLFLQSDISIA
LDPLYPSRCSWETFGYATSISMAQASDGLSPLQLSGQLNSLPCSLTFRQEETISIIRLIE
QARHATYGIRKCFLFLLQCQLTLVVIQFLSCLVQLPPLLSTTDILWLSCFCYPLLSISLL
GKPPHSSIMSMATGKNLQSIPKKTQHYFLLCFLLKFSLTISSCLICFGFTLQSFCDSSRD
RNLTNCSSVMLPSNDDRAPAWFEDFANGLLSAQKLTAALIVLHTVFISITHVHRTKPLWR
KSPLTNLWWAVTVPVVLLGQVVQTAVDLQLWTHRDSHVHFGLEDVPLLTWLLGCLSLVLV
VVTNEIVKLHEIRVRVRYQKRQKLQFETKLGMNSPF
Sequence length 1356
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
75
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic rs2146643195 RCV001814377
Intellectual developmental disorder with cardiac defects and dysmorphic facies Pathogenic; Likely pathogenic rs2146620645, rs2146831964, rs2052160365, rs1352010373, rs1163944538, rs557746506, rs1567950778, rs1567985127, rs2052296892 RCV001533217
RCV001533218
RCV004764860
RCV000754832
RCV000754831
RCV000754829
RCV000754830
RCV000754833
RCV001169893
Rare syndromic intellectual disability Pathogenic; Likely pathogenic rs746131112, rs2052160365 RCV004017964
RCV004018280
TMEM94-related disorder Likely pathogenic; Pathogenic rs2545865194, rs1352010373, rs1163944538 RCV003982797
RCV000735207
RCV000735206
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Benign rs35709918 RCV005904968
Gastric cancer Likely benign; Benign rs148064514, rs35709918 RCV005922699
RCV005904970
Germ cell tumor of testis Benign rs4078474 RCV005920624
Hepatocellular carcinoma Benign rs4078474 RCV005920623
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 28619028
Congenital Abnormalities Associate 32825426
Hypoxia Associate 28619028