TMEM147
geneOn this page
Also known as NIFIE14MGC1936
Summary
TMEM147 (transmembrane protein 147, HGNC:30414) is a protein-coding gene on chromosome 19q13.12, encoding BOS complex subunit TMEM147 (Q9BVK8). Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes.
Enables ribosome binding activity. Involved in multi-pass transmembrane protein insertion into ER membrane and protein localization to nuclear inner membrane. Located in nuclear membrane. Part of multi-pass translocon complex. Is active in endoplasmic reticulum membrane.
Source: NCBI Gene 10430 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 2
- Clinical variants (ClinVar): 67 total — 10 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 44
- MANE Select transcript:
NM_032635
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30414 |
| Approved symbol | TMEM147 |
| Name | transmembrane protein 147 |
| Location | 19q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NIFIE14, MGC1936 |
| Ensembl gene | ENSG00000105677 |
| Ensembl biotype | protein_coding |
| OMIM | 613585 |
| Entrez | 10430 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 10 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay
ENST00000222284, ENST00000392204, ENST00000392205, ENST00000477168, ENST00000593027, ENST00000595180, ENST00000595467, ENST00000596232, ENST00000599895, ENST00000909147, ENST00000909148, ENST00000909149, ENST00000928928, ENST00000928929, ENST00000928930, ENST00000928931
RefSeq mRNA: 3 — MANE Select: NM_032635
NM_001242597, NM_001242598, NM_032635
CCDS: CCDS12466, CCDS56091
Canonical transcript exons
ENST00000222284 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000700065 | 35546945 | 35547029 |
| ENSE00000700066 | 35546672 | 35546808 |
| ENSE00003105979 | 35545626 | 35545816 |
| ENSE00003620791 | 35547119 | 35547240 |
| ENSE00003651027 | 35547324 | 35547526 |
| ENSE00003669239 | 35545888 | 35545957 |
| ENSE00003754992 | 35546526 | 35546585 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 98.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 63.9178 / max 340.2157, expressed in 1822 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175346 | 60.6523 | 1822 |
| 175347 | 1.6615 | 1065 |
| 175345 | 1.2514 | 760 |
| 175348 | 0.3526 | 136 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland | UBERON:0001233 | 98.44 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.34 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.25 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.24 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.24 | gold quality |
| apex of heart | UBERON:0002098 | 98.01 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.99 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.91 | gold quality |
| body of pancreas | UBERON:0001150 | 97.88 | gold quality |
| skin of leg | UBERON:0001511 | 97.76 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.73 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.62 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.58 | gold quality |
| adrenal gland | UBERON:0002369 | 97.47 | gold quality |
| zone of skin | UBERON:0000014 | 97.16 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.13 | gold quality |
| left coronary artery | UBERON:0001626 | 97.12 | gold quality |
| thyroid gland | UBERON:0002046 | 97.08 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.04 | gold quality |
| body of stomach | UBERON:0001161 | 97.02 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.99 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.99 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.97 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.96 | gold quality |
| pancreas | UBERON:0001264 | 96.88 | gold quality |
| ascending aorta | UBERON:0001496 | 96.85 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.85 | gold quality |
| right coronary artery | UBERON:0001625 | 96.82 | gold quality |
| right testis | UBERON:0004534 | 96.81 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.81 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8271 | yes | 7.04 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 5)
- TMEM147 is a novel core component of the Nicalin-NOMO complex, further emphasizing its similarity with gamma-secretase. (PMID:20538592)
- Regulation of ER Composition and Extent, and Putative Action in Protein Networks by ER/NE Protein TMEM147. (PMID:34638576)
- Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huet anomaly. (PMID:36044892)
- TMEM147 Correlates with Immune Infiltration and Serve as a Potential Prognostic Biomarker in Hepatocellular Carcinoma. (PMID:37305689)
- A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. (PMID:37668766)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem147 | ENSDARG00000039913 |
| mus_musculus | Tmem147 | ENSMUSG00000006315 |
| rattus_norvegicus | Tmem147 | ENSRNOG00000021006 |
| drosophila_melanogaster | CG5861 | FBGN0015338 |
| caenorhabditis_elegans | WBGENE00022734 |
Protein
Protein identifiers
BOS complex subunit TMEM147 — Q9BVK8 (reviewed: Q9BVK8)
Alternative names: Protein NIFIE 14, Transmembrane protein 147
All UniProt accessions (3): Q9BVK8, A8MU21, K7ELX3
UniProt curated annotations — full annotation on UniProt →
Function. Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes. The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions. Also acts as a negative regulator of CHRM3 function, most likely by interfering with its trafficking to the cell membrane. Negatively regulates CHRM3-mediated calcium mobilization and activation of RPS6KA1/p90RSK activity. Regulates LBR localization to the nucleus inner membrane.
Subunit / interactions. Component of the back of Sec61 (BOS) complex, composed of NCLN/Nicalin, NOMO (NOMO1, NOMO2 or NOMO3) and TMEM147. The BOS complex is part of the multi-pass translocon (MPT) complex, composed of three subcomplexes, the GEL complex (composed of RAB5IF/OPTI and TMCO1), the BOS complex (composed of NCLN/Nicalin, NOMO and TMEM147) and the PAT complex (composed of WDR83OS/Asterix and CCDC47). The MPT complex associates with the SEC61 complex. Interacts with CHRM3, CHRM1 and AVPR2. Interacts with LBR; promoting LBR localization to the nucleus inner membrane. Interacts with DHCR7.
Subcellular location. Endoplasmic reticulum membrane. Nucleus membrane. Cell membrane.
Disease relevance. Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly (NEDFLPH) [MIM:620075] An autosomal recessive disorder with onset in infancy and characterized by global developmental delay, intellectual disability, dysmorphic facial features, coarse facies, and behavioral problems. Affected individuals may have variable findings on brain imaging, such as cortical atrophy, thin corpus callosum and enlarged ventricles. Laboratory studies show nuclear lobulation defects in a subset of neutrophils, indicating a pseudo-Pelger-Huet anomaly. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the TMEM147 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BVK8-1 | 1 | yes |
| Q9BVK8-2 | 2 |
RefSeq proteins (3): NP_001229526, NP_001229527, NP_116024* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019164 | TMEM147 | Family |
Pfam: PF09767
UniProt features (28 total): transmembrane region 7, topological domain 7, sequence variant 7, sequence conflict 5, chain 1, splice variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9C7U | ELECTRON MICROSCOPY | 3.65 |
| 6W6L | ELECTRON MICROSCOPY | 3.84 |
| 9C7V | ELECTRON MICROSCOPY | 6.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BVK8-F1 | 92.38 | 0.74 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 288 (showing top):
FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, KAAB_FAILED_HEART_ATRIUM_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, CREB_Q4, MORF_ATOX1, ATF1_Q6, WTGAAAT_UNKNOWN, LUI_TARGETS_OF_PAX8_PPARG_FUSION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, MORF_PPP2R4, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, ATF3_Q6, MORF_GPX4, HFH1_01, FREAC4_01
GO Biological Process (2): protein localization to nuclear inner membrane (GO:0036228), multi-pass transmembrane protein insertion into ER membrane (GO:0160063)
GO Molecular Function (2): ribosome binding (GO:0043022), protein binding (GO:0005515)
GO Cellular Component (8): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), nuclear membrane (GO:0031965), protein-containing complex (GO:0032991), multi-pass translocon complex (GO:0160064), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| organelle membrane | 2 |
| intracellular membrane-bounded organelle | 2 |
| protein localization to membrane | 1 |
| protein localization to nuclear envelope | 1 |
| protein insertion into ER membrane | 1 |
| ribonucleoprotein complex binding | 1 |
| binding | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| cellular_component | 1 |
| ER membrane insertion complex | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1308 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM147 | NCLN | Q969V3 | 991 |
| TMEM147 | NOMO2 | Q5JPE7 | 986 |
| TMEM147 | NOMO3 | P69849 | 718 |
| TMEM147 | TMEM63A | O94886 | 651 |
| TMEM147 | ERG28 | Q9UKR5 | 624 |
| TMEM147 | NOMO1 | P78421 | 611 |
| TMEM147 | YIPF6 | Q96EC8 | 593 |
| TMEM147 | EMC7 | Q9NPA0 | 587 |
| TMEM147 | GALM | Q96C23 | 578 |
| TMEM147 | IER3IP1 | Q9Y5U9 | 573 |
| TMEM147 | TMEM53 | Q6P2H8 | 556 |
| TMEM147 | XYLT1 | Q86Y38 | 549 |
| TMEM147 | TMEM223 | A0PJW6 | 540 |
| TMEM147 | CCDC47 | Q96A33 | 534 |
| TMEM147 | KRTCAP2 | Q8N6L1 | 477 |
IntAct
177 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LDLRAD1 | TMEM147 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CREB3L1 | TMEM147 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TMEM147 | LDLRAD1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TMEM147 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TMEM147 | PACC1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| HTR2C | TMEM147 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ABHD16A | TMEM147 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TMEM147 | SYNE4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNE4 | TMEM147 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM147 | GPR37L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM147 | CLRN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM147 | SHISA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM147 | SLC10A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM147 | LHFPL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM147 | PVR | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM147 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TMEM147 | TEX29 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM147 | IL3RA | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (104): CREB3L1 (Two-hybrid), SYNE4 (Two-hybrid), LDLRAD1 (Two-hybrid), TMEM147 (Two-hybrid), ABI3 (Two-hybrid), TMEM147 (Affinity Capture-MS), TMEM147 (Affinity Capture-MS), TMEM147 (Positive Genetic), TMEM147 (Two-hybrid), TMEM147 (Two-hybrid), TMEM147 (Two-hybrid), TMEM147 (Two-hybrid), TMEM147 (Two-hybrid), TMEM147 (Two-hybrid), TSPAN12 (Two-hybrid)
ESM2 similar proteins: A0A078H868, A0A8I3MKU8, A1C7T5, A1DIF7, A2R616, A6S950, B0XUW3, B2B2N5, B6HJA3, B8N6H2, B9RK42, C0NLX2, C0RZV6, C1G565, C1GZK1, C4JDF8, C5FZ62, C5GN10, C5JCV0, C5PEI5, C6H4B5, C7Z7C3, D1ZIW5, D4AT37, D4DGR3, I6VSD2, O94673, O96005, Q0CVD7, Q0IJ20, Q28FY5, Q29BL9, Q2H0U8, Q2TA63, Q2UDE5, Q3SZR6, Q4WZS1, Q5BBC6, Q5BIY5, Q6DFI2
Diamond homologs: A0A8I3MKU8, I6VSD2, Q28FY5, Q2TA63, Q3SZR6, Q6DFI2, Q6DGL7, Q9BVK8, Q9CQG6
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TMEM147 | “form complex” | “BOS complex, NOMO1 variant” | binding |
| TMEM147 | “form complex” | “BOS complex, NOMO2 variant” | binding |
| TMEM147 | “form complex” | “BOS complex, NOMO3 variant” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 10 |
| Likely pathogenic | 1 |
| Uncertain significance | 37 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (11)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1708019 | NM_032635.4(TMEM147):c.100_118del (p.Lys34fs) | Pathogenic |
| 1708020 | NM_032635.4(TMEM147):c.419dup (p.Asn140fs) | Pathogenic |
| 1708024 | NM_032635.4(TMEM147):c.345-1G>T | Pathogenic |
| 1708025 | NM_032635.4(TMEM147):c.390G>A (p.Trp130Ter) | Pathogenic |
| 1708026 | NM_032635.4(TMEM147):c.540_543dup (p.Val182fs) | Pathogenic |
| 1708028 | NM_032635.4(TMEM147):c.486C>G (p.Tyr162Ter) | Pathogenic |
| 1711114 | NM_032635.4(TMEM147):c.169_172del (p.Phe57fs) | Pathogenic |
| 1712322 | NM_032635.4(TMEM147):c.163_172del (p.Thr55fs) | Pathogenic |
| 3602549 | NM_032635.4(TMEM147):c.429+2T>C | Pathogenic |
| 3778700 | NM_032635.4(TMEM147):c.208-8_222delinsCT | Pathogenic |
| 3374729 | NM_032635.4(TMEM147):c.430-2A>T | Likely pathogenic |
SpliceAI
642 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:35545812:GGCCT:G | donor_gain | 1.0000 |
| 19:35545813:GCCT:G | donor_gain | 1.0000 |
| 19:35545813:GCCTG:G | donor_gain | 1.0000 |
| 19:35545817:G:GG | donor_gain | 1.0000 |
| 19:35545956:AGGT:A | donor_loss | 1.0000 |
| 19:35545959:T:A | donor_loss | 1.0000 |
| 19:35546670:A:AG | acceptor_gain | 1.0000 |
| 19:35546670:AG:A | acceptor_gain | 1.0000 |
| 19:35546671:G:GG | acceptor_gain | 1.0000 |
| 19:35546671:GG:G | acceptor_gain | 1.0000 |
| 19:35546671:GGA:G | acceptor_gain | 1.0000 |
| 19:35546749:A:T | donor_gain | 1.0000 |
| 19:35546805:CCCGG:C | donor_loss | 1.0000 |
| 19:35546807:CGG:C | donor_loss | 1.0000 |
| 19:35546809:G:GA | donor_loss | 1.0000 |
| 19:35546809:G:GG | donor_gain | 1.0000 |
| 19:35547025:GTCTG:G | donor_gain | 1.0000 |
| 19:35547227:GCC:G | donor_gain | 1.0000 |
| 19:35547238:GGA:G | donor_gain | 1.0000 |
| 19:35547239:GAG:G | donor_gain | 1.0000 |
| 19:35547241:G:GG | donor_gain | 1.0000 |
| 19:35546583:GGG:G | donor_gain | 0.9900 |
| 19:35546584:GG:G | donor_gain | 0.9900 |
| 19:35546584:GGG:G | donor_gain | 0.9900 |
| 19:35546585:GG:G | donor_gain | 0.9900 |
| 19:35546585:GGTGA:G | donor_loss | 0.9900 |
| 19:35546586:G:GA | donor_loss | 0.9900 |
| 19:35546587:T:A | donor_loss | 0.9900 |
| 19:35546671:GGAGT:G | acceptor_gain | 0.9900 |
| 19:35546747:G:GT | donor_gain | 0.9900 |
AlphaMissense
1466 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:35545925:G:A | G39R | 1.000 |
| 19:35545925:G:C | G39R | 1.000 |
| 19:35546777:G:C | G105R | 1.000 |
| 19:35546780:T:A | W106R | 1.000 |
| 19:35546780:T:C | W106R | 1.000 |
| 19:35546782:G:C | W106C | 1.000 |
| 19:35546782:G:T | W106C | 1.000 |
| 19:35546958:T:A | W120R | 1.000 |
| 19:35546958:T:C | W120R | 1.000 |
| 19:35546982:T:C | F128L | 1.000 |
| 19:35546983:T:C | F128S | 1.000 |
| 19:35546983:T:G | F128C | 1.000 |
| 19:35546984:T:A | F128L | 1.000 |
| 19:35546984:T:G | F128L | 1.000 |
| 19:35546988:T:A | W130R | 1.000 |
| 19:35546988:T:C | W130R | 1.000 |
| 19:35545759:G:A | G7E | 0.999 |
| 19:35545763:C:A | N8K | 0.999 |
| 19:35545763:C:G | N8K | 0.999 |
| 19:35545764:T:C | C9R | 0.999 |
| 19:35545765:G:A | C9Y | 0.999 |
| 19:35545766:C:G | C9W | 0.999 |
| 19:35545771:C:A | A11D | 0.999 |
| 19:35545774:T:A | L12H | 0.999 |
| 19:35545786:C:A | P16H | 0.999 |
| 19:35545800:T:G | Y21D | 0.999 |
| 19:35545917:T:A | V36D | 0.999 |
| 19:35545926:G:A | G39E | 0.999 |
| 19:35545950:T:C | L47P | 0.999 |
| 19:35545952:T:C | C48R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000513581 (19:35546017 G>A), RS1001088815 (19:35544644 C>T), RS1001207725 (19:35547327 C>A,T), RS1002625632 (19:35547908 G>C), RS1003549329 (19:35546066 C>T), RS1003653580 (19:35546700 C>G), RS1005633805 (19:35547079 C>G), RS1005727157 (19:35546790 C>T), RS1006746426 (19:35545442 C>T), RS1007107284 (19:35545363 C>T), RS1007615253 (19:35544424 G>A,C), RS1007858150 (19:35546408 A>G), RS1008108980 (19:35543642 G>A), RS1009845012 (19:35544442 T>G), RS1010161018 (19:35544575 T>C)
Disease associations
OMIM: gene MIM:613585 | disease phenotypes: MIM:620075
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | Strong | Autosomal recessive |
| complex neurodevelopmental disorder | Moderate | Autosomal recessive |
Mondo (2): neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly (MONDO:0859298), complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (1): Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome (Orphanet:698085)
HPO phenotypes
44 total (30 of 44 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000154 | Wide mouth |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000232 | Everted lower lip vermilion |
| HP:0000276 | Long face |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000343 | Long philtrum |
| HP:0000369 | Low-set ears |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000664 | Synophrys |
| HP:0000718 | Aggressive behavior |
| HP:0000739 | Anxiety |
| HP:0000750 | Delayed speech and language development |
| HP:0000752 | Hyperactivity |
| HP:0000954 | Single transverse palmar crease |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001335 | Bimanual synkinesia |
| HP:0001344 | Absent speech |
| HP:0001631 | Atrial septal defect |
| HP:0001655 | Patent foramen ovale |
| HP:0002188 | Delayed CNS myelination |
| HP:0002212 | Curly hair |
| HP:0002751 | Kyphoscoliosis |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90011898_58 | Alanine aminotransferase levels | 6.000000e-12 |
| GCST90013405_116 | Liver enzyme levels (alanine transaminase) | 2.000000e-16 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, increases methylation | 3 |
| sodium arsenite | decreases expression | 2 |
| bisphenol A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3JI | Abcam HEK293T TMEM147 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder, neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly