TMEM94 (transmembrane protein 94)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9772
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 94
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM94
Synonyms (NCBI Gene) Gene synonyms aliases
ERMA, IDDCDF, KIAA0195
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDCDF
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
GO ID Ontology Definition Evidence Reference
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618163 28983 ENSG00000177728
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (14)
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321
View all (13 more)		 30526868
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)		 30526868
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Specific learning disorder Specific learning disability ClinVar
Cardiac Defects intellectual developmental disorder with cardiac defects and dysmorphic facies GenCC
Dementia Dementia GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 28619028
Congenital Abnormalities Associate 32825426
Hypoxia Associate 28619028