TMEM94 (transmembrane protein 94)

Gene

• Entrez ID: 9772
• Gene name: Transmembrane protein 94
• Gene symbol: TMEM94
• Synonyms (NCBI Gene): ERMA, IDDCDF, KIAA0195
• Chromosome: 17
• Chromosome location: 17q25.1

SNPs

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

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
MIRT251716	hsa-miR-15a-3p	PAR-CLIP	24398324
MIRT018963	hsa-miR-335-5p	PAR-CLIP	24398324
MIRT251717	hsa-miR-4308	PAR-CLIP	24398324
MIRT251718	hsa-miR-4292	PAR-CLIP	24398324
MIRT251721	hsa-miR-6791-5p	PAR-CLIP	24398324
MIRT502169	hsa-miR-4299	PAR-CLIP	24398324
MIRT502168	hsa-miR-5008-5p	PAR-CLIP	24398324
MIRT502167	hsa-miR-6089	PAR-CLIP	24398324
MIRT502166	hsa-miR-4792	PAR-CLIP	24398324
MIRT502164	hsa-miR-4710	PAR-CLIP	24398324
MIRT502165	hsa-miR-4316	PAR-CLIP	24398324
MIRT251719	hsa-miR-3657	PAR-CLIP	24398324
MIRT502163	hsa-miR-7855-5p	PAR-CLIP	24398324

Gene ontology (GO)

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
GO:0010961	Process	Intracellular magnesium ion homeostasis	ISS
GO:0015444	Function	P-type magnesium transporter activity	IBA
GO:0015444	Function	P-type magnesium transporter activity	IDA	38513662
GO:0016020	Component	Membrane	IEA
GO:0160176	Process	Magnesium ion transport from cytosol to endoplasmic reticulum	IBA
GO:0160176	Process	Magnesium ion transport from cytosol to endoplasmic reticulum	IMP	38513662

Other IDs

• MIM: 618163
• HGNC: 28983
• e!Ensembl: ENSG00000177728

Protein

• 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.
• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the nervous system	Likely pathogenic	rs2146643195	RCV001814377	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare syndromic intellectual disability	Pathogenic; Likely pathogenic	rs746131112, rs2052160365	RCV004017964 RCV004018280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TMEM94-related disorder	Likely pathogenic; Pathogenic	rs2545865194, rs1352010373, rs1163944538	RCV003982797 RCV000735207 RCV000735206	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arachnodactyly	Arachnodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28619028	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32825426	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	GENOMICS_ENGLAND_DG	30526868		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30526868		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30526868		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28619028	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30526868		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Vessel Tumors	Lymphatic Vessel Tumors	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	30526868		★☆☆☆☆ Found in Text Mining only
Mesenteric Cyst	Mesenteric Cyst	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30526868		★☆☆☆☆ Found in Text Mining only
Optic Nerve Glioma	Optic Nerve Glioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracolumbar scoliosis	Thoracolumbar scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome	Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Orphanet			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only