TMEM94
entrez
9772
canonical
uniprot
Q12767
canonical
ensembl
ENSG00000177728
resolver
ensp
ENSP00000313885
resolver
ensp
ENSP00000364397
resolver
ensp
ENSP00000463487
resolver
ensp
ENSP00000464437
resolver
ensp
ENSP00000464679
resolver
ensp
ENSP00000531589
resolver
ensp
ENSP00000531590
resolver
ensp
ENSP00000531591
resolver
ensp
ENSP00000531594
resolver
ensp
ENSP00000531595
resolver
ensp
ENSP00000531596
resolver
ensp
ENSP00000531597
resolver
ensp
ENSP00000531600
resolver
ensp
ENSP00000531605
resolver
ensp
ENSP00000531606
resolver
ensp
ENSP00000531609
resolver
ensp
ENSP00000607137
resolver
enst
ENST00000577247
resolver
enst
ENST00000578853
resolver
enst
ENST00000580918
resolver
genesymbol
TMEM94
resolver
genesymbol_syn
ERMA
resolver
genesymbol_syn
KIAA0195
resolver
hgnc
HGNC:28983
resolver
uniprot
B7Z9U5
resolver
uniprot
C9JL75
resolver
uniprot
J3QLC5
resolver
uniprot
J3QRY7
resolver
uniprot
J3QSG7
resolver
uniprot
O75536
resolver
uniprot
Q86XF1
resolver
uniprot_entry
B7Z9U5_HUMAN
resolver
uniprot_entry
J3QLC5_HUMAN
resolver
uniprot_entry
J3QRY7_HUMAN
resolver
uniprot_entry
J3QSG7_HUMAN
resolver
uniprot_entry
TMM94_HUMAN
resolver
uniprot_sec
C9JL75
resolver
uniprot_sec
O75536
resolver
uniprot_sec
Q86XF1
resolver
amino_acid_sequence
MDLKEKHLGEPPSALGLSTRKALSVLKEQLEAVLEGHLRERKKCLTWKEVWRSSFLHHSNRCSCFHWPGASLMLLAVLLLLGCCGGQPAGSRGVGLVNASALFLLLLLNLVLIGRQDRLKRREVERRLRGIIDQIQDALRDGREIQWPSAMYPDLHMPFAPSWSLHWAYRDGHLVNLPVSLLVEGDIIALRPGQESFASLRGIKDDEHIVLEPGDLFPPFSPPPSPRGEVERGPQSPQQHRLFRVLETPVIDNIRWCLDMALSRPVTALDNERFTVQSVMLHYAVPVVLAGFLITNALRFIFSAPGVTSWQYTLLQLQVNGVLPILPLLFPVLWVLATACGEARVLAQMSKASPSSLLAKFSEDTLSSYTEAVSSQEMLRCIWGHFLRVLGGTSPTLSHSSSLLHSLGSVTVLCCVDKQGILSWPNPSPETVLFFSGKVEPPHSSHEDLTDGLSTRSFCHPEPHERDALLAGSLNNTLHLSNEQERGDWPGEAPKPPEPYSHHKAHGRSKHPSGSNVSFSRDTEGGEEEPSKTQPGMESDPYEAEDFVCDYHLEMLSLSQDQQNPSCIQFDDSNWQLHLTSLKPLGLNVLLNLCDASVTERLCRFSDHLCNIALQESHSAVLPVHVPWGLCELARLIGFTPGAKELFKQENHLALYRLPSAETMKETSLGRLSCVTKRRPPLSHMISLFIKDTTTSTEQMLSHGTADVVLEACTDFWDGADIYPLSGSDRKKVLDFYQRACLSGYCSAFAYKPMNCALSSQLNGKCIELVQVPGQSSIFTMCELPSTIPIKQNARRSSWSSDEGIGEVLEKEDCMQALSGQIFMGMVSSQYQARLDIVRLIDGLVNACIRFVYFSLEDELKSKVFAEKMGLETGWNCHISLTPNGDMPGSEIPPSSPSHAGSLHDDLNQVSRDDAEGLLLMEEEGHSDLISFQPTDSDIPSFLEDSNRAKLPRGIHQVRPHLQNIDNVPLLVPLFTDCTPETMCEMIKIMQEYGEVTCCLGSSANLRNSCLFLQSDISIALDPLYPSRCSWETFGYATSISMAQASDGLSPLQLSGQLNSLPCSLTFRQEETISIIRLIEQARHATYGIRKCFLFLLQCQLTLVVIQFLSCLVQLPPLLSTTDILWLSCFCYPLLSISLLGKPPHSSIMSMATGKNLQSIPKKTQHYFLLCFLLKFSLTISSCLICFGFTLQSFCDSSRDRNLTNCSSVMLPSNDDRAPAWFEDFANGLLSAQKLTAALIVLHTVFISITHVHRTKPLWRKSPLTNLWWAVTVPVVLLGQVVQTAVDLQLWTHRDSHVHFGLEDVPLLTWLLGCLSLVLVVVTNEIVKLHEIRVRVRYQKRQKLQFETKLGMNSPF
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF) [MIM:618316]: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, congenital heart malformations, and facial dysmorphism. Dysmorphic features include triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism. {ECO:0000269|PubMed:30526868}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Could function in the uptake of Mg(2+) from the cytosol into the endoplasmic reticulum and regulate intracellular Mg(2+) homeostasis. {ECO:0000269|PubMed:38513662}.
uniprot
proteins
mass_dalton
151151
uniprot
proteins
mutagenesis
MUTAGEN 417..418; /note="DK->AN: Loss of function in magnesium transport."; /evidence="ECO:0000305|PubMed:38513662"; MUTAGEN 1132; /note="Y->A: Loss of function in magnesium transport."; /evidence="ECO:0000305|PubMed:38513662"; MUTAGEN 1351..1353; /note="GMN->IKL: Loss of function in magnesium transport. Increased degradation. No effect on homooligomerization."; /evidence="ECO:0000305|PubMed:38513662"; MUTAGEN 1353; /note="N->W: No effect on function in magnesium transport."; /evidence="ECO:0000305|PubMed:38513662
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30526868
uniprot
proteins
pubmed
38513662
uniprot
proteins
pubmed
38879951
uniprot
proteins
pubmed
8724849
uniprot
proteins
sequence_length
1356
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:38513662}; Multi-pass membrane protein {ECO:0000269|PubMed:38513662}.
uniprot
proteins
transmembrane_region
TRANSMEM 65..85; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 93..113; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 274..294; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 321..341; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1093..1113; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1121..1141; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1168..1188; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1229..1249; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1262..1282; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1307..1327; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins