TAMALIN
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Summary
TAMALIN (trafficking regulator and scaffold protein tamalin, HGNC:18707) is a protein-coding gene on chromosome 12q13.13, encoding Protein TAMALIN (Q7Z6J2). Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses.
This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.
Source: NCBI Gene 160622 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 88 total
- MANE Select transcript:
NM_181711
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18707 |
| Approved symbol | TAMALIN |
| Name | trafficking regulator and scaffold protein tamalin |
| Location | 12q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000161835 |
| Ensembl biotype | protein_coding |
| OMIM | 612027 |
| Entrez | 160622 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 3 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000293662, ENST00000546756, ENST00000547749, ENST00000548505, ENST00000550809, ENST00000552049, ENST00000552508, ENST00000552963
RefSeq mRNA: 2 — MANE Select: NM_181711
NM_001271856, NM_181711
CCDS: CCDS61124, CCDS8817
Canonical transcript exons
ENST00000293662 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001060706 | 52009190 | 52009239 |
| ENSE00001328100 | 52006946 | 52007265 |
| ENSE00001483521 | 52014694 | 52015889 |
| ENSE00003460491 | 52013687 | 52013780 |
| ENSE00003569538 | 52013877 | 52013943 |
| ENSE00003585956 | 52010881 | 52010935 |
| ENSE00003643984 | 52014135 | 52014201 |
| ENSE00003678666 | 52011039 | 52011141 |
Expression profiles
Bgee: expression breadth ubiquitous, 239 present calls, max score 99.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.5916 / max 1936.9717, expressed in 1255 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 125540 | 22.9479 | 1181 |
| 125542 | 0.6436 | 420 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lung | UBERON:0002167 | 99.10 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.22 | gold quality |
| left uterine tube | UBERON:0001303 | 98.01 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.83 | gold quality |
| tibial nerve | UBERON:0001323 | 96.70 | gold quality |
| omental fat pad | UBERON:0010414 | 96.42 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.39 | gold quality |
| gall bladder | UBERON:0002110 | 96.38 | gold quality |
| peritoneum | UBERON:0002358 | 96.38 | gold quality |
| endocervix | UBERON:0000458 | 95.78 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 95.28 | gold quality |
| ectocervix | UBERON:0012249 | 94.56 | gold quality |
| body of uterus | UBERON:0009853 | 94.48 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.38 | gold quality |
| apex of heart | UBERON:0002098 | 94.26 | gold quality |
| right ovary | UBERON:0002118 | 94.17 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 93.93 | gold quality |
| cardiac atrium | UBERON:0002081 | 93.91 | gold quality |
| left ovary | UBERON:0002119 | 93.87 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.87 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.48 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.48 | silver quality |
| sural nerve | UBERON:0015488 | 93.48 | gold quality |
| right coronary artery | UBERON:0001625 | 93.40 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.29 | gold quality |
| spleen | UBERON:0002106 | 93.18 | gold quality |
| putamen | UBERON:0001874 | 93.14 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.11 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.95 | gold quality |
| nucleus accumbens | UBERON:0001882 | 92.88 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.25 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
36 targeting TAMALIN, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-6801-3P | 98.04 | 64.64 | 805 |
| HSA-MIR-6810-3P | 97.96 | 64.57 | 1023 |
| HSA-MIR-6787-5P | 97.54 | 63.85 | 457 |
| HSA-MIR-4771 | 97.43 | 67.69 | 596 |
| HSA-MIR-939-5P | 97.10 | 65.80 | 1579 |
Literature-anchored findings (GeneRIF, showing 8)
- The crystal structures of the autoinhibitory PDZ domain of Tamalin has implications for the regulation of metabotropic glutamate receptor trafficking. (PMID:17396155)
- protein-protein interaction mediated by ARNO coiled-coil domain required for ARNO induced motility; coiled-coil domain promotes assembly of multiprotein complex containing ARNO and Dock180; assembly of complex requires coiled-coil domain, GRASP and IPCEF (PMID:20016009)
- the structural basis of the phosphoinhibition of GRASP-mediated membrane tethering and provide a mechanism for its allosteric regulation. (PMID:22523075)
- GRASP regulates the non-clathrin/Arf6-dependent, plasma membrane recycling and signalling pathways. (PMID:22931251)
- GRASP bridges the guanine nucleotide exchange factors (GEFs) that activate Arf and Rac, thereby promoting Arf-to-Rac signaling By binding to both cytohesin 2/ARNO and Dock180. (PMID:23441967)
- myristoylated GRASP promoted tethering and exhibited a unique membrane complex. Thus, myristoylation restricts the membrane orientation of the GRASP domain favoring interactions in trans for membrane tethering. (PMID:24505136)
- Schizophrenia subjects compared to controls showed a marked increase in CA1 hippocampal Norbin, and Tamalin proteins (47% and 34% respectively), which are endogenous regulators of mGluR5 signalling and trafficking (PMID:26048293)
- The post-synaptic scaffolding protein tamalin regulates ligand-mediated trafficking of metabotropic glutamate receptors. (PMID:32376687)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tamalin | ENSDARG00000000588 |
| mus_musculus | Tamalin | ENSMUSG00000000531 |
| rattus_norvegicus | Tamalin | ENSRNOG00000007346 |
| drosophila_melanogaster | ssp6 | FBGN0035676 |
| caenorhabditis_elegans | gras-1 | WBGENE00009272 |
Paralogs (1): CYTIP (ENSG00000115165)
Protein
Protein identifiers
Protein TAMALIN — Q7Z6J2 (reviewed: Q7Z6J2)
Alternative names: General receptor for phosphoinositides 1-associated scaffold protein
All UniProt accessions (2): Q7Z6J2, F8VRX5
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses.
Subunit / interactions. Heteromer. Composed of TAMALIN, CYTH2 and at least one GRM1. Also interacts with CYTH3, GRM2, GRM3 and GRM5.
Subcellular location. Cytoplasm. Perinuclear region. Cell membrane. Postsynaptic cell membrane.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z6J2-1 | 1 | yes |
| Q7Z6J2-2 | 2 |
RefSeq proteins (2): NP_001258785, NP_859062* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001478 | PDZ | Domain |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR052122 | Intracell_Traff_Signaling_Reg | Family |
Pfam: PF00595
UniProt features (23 total): modified residue 5, strand 5, region of interest 3, compositionally biased region 3, splice variant 2, helix 2, chain 1, domain 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2PNT | X-RAY DIFFRACTION | 2.15 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z6J2-F1 | 61.45 | 0.19 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (5): 237, 270, 387, 77, 94
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 151 (showing top):
GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GTGCCTT_MIR506, GOBP_REGULATION_OF_RECEPTOR_INTERNALIZATION, ATF1_Q6, GOBP_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS, GOBP_RECEPTOR_INTERNALIZATION, GOBP_REGULATION_OF_ENDOCYTOSIS, RFX1_02, AML1_01, CCAGGGG_MIR331, GOBP_REGULATION_OF_TRANSPORT
GO Biological Process (2): signal transduction (GO:0007165), regulation of postsynaptic neurotransmitter receptor internalization (GO:0099149)
GO Molecular Function (4): PDZ domain binding (GO:0030165), small GTPase binding (GO:0031267), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (8): plasma membrane (GO:0005886), postsynaptic density (GO:0014069), postsynaptic membrane (GO:0045211), perinuclear region of cytoplasm (GO:0048471), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), membrane (GO:0016020), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| regulation of receptor internalization | 1 |
| regulation of biological quality | 1 |
| postsynaptic neurotransmitter receptor internalization | 1 |
| protein domain specific binding | 1 |
| GTPase binding | 1 |
| protein binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| synaptic membrane | 1 |
| postsynapse | 1 |
| cytoplasm | 1 |
| synapse | 1 |
| intracellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
696 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TAMALIN | CYTH2 | Q99418 | 981 |
| TAMALIN | NTRK3 | Q16288 | 894 |
| TAMALIN | CYTH3 | O43739 | 864 |
| TAMALIN | APBA2 | Q99767 | 840 |
| TAMALIN | DLG4 | P78352 | 801 |
| TAMALIN | DLGAP3 | O95886 | 784 |
| TAMALIN | NCDN | Q9UBB6 | 774 |
| TAMALIN | MAGI2 | Q86UL8 | 769 |
| TAMALIN | GRM5 | P41594 | 721 |
| TAMALIN | PEX5L | Q8IYB4 | 685 |
| TAMALIN | RGS12 | O14924 | 683 |
| TAMALIN | FLNA | P21333 | 679 |
| TAMALIN | GRM1 | Q13255 | 639 |
| TAMALIN | CYTH1 | Q15438 | 623 |
| TAMALIN | RABIF | P47224 | 619 |
IntAct
550 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TAMALIN | ACE2 | psi-mi:“MI:0915”(physical association) | 0.610 |
| TAMALIN | ACE2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| TAMALIN | PTEN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FCHSD2 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CACNA1D | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC22A11 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| YAP1 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC1A1 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| WWTR1 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | SLC15A5 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | SHANK3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLEKHH2 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PRKCA | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SHANK1 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | NHERF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| APC | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BCR | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SHROOM3 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC22A9 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RCN2 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RAPGEF2 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAST1 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATP2A2 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC5A12 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (19): PSD (Affinity Capture-Western), SRC (Affinity Capture-Western), PTPN11 (Affinity Capture-Western), GRM1 (Affinity Capture-Western), GRASP (Biochemical Activity), GRASP (Biochemical Activity), SYK (Affinity Capture-Western), GRASP (Affinity Capture-Western), DOCK1 (Reconstituted Complex), GRASP (FRET), GRASP (Protein-peptide), GRASP (Affinity Capture-Western), GRASP (Affinity Capture-MS), GRASP (Affinity Capture-MS), GRASP (Affinity Capture-Western)
ESM2 similar proteins: A0A8I5KY20, A2A9T0, A2IDD5, B0BNK9, B8ZZ34, C9JI98, C9JLR9, F5GYI3, O18734, P0CG25, P84157, Q0IIA6, Q0PHV7, Q0X0E2, Q13387, Q1RMK9, Q2M3D2, Q2TAM9, Q3ZCQ3, Q4VA45, Q673H1, Q69YZ2, Q6NS60, Q6P6N5, Q6PJ61, Q7Z6J2, Q80ZJ8, Q810I0, Q86SX3, Q86UD0, Q86XT2, Q8BNN1, Q8IUW3, Q8N4Y2, Q8N6N2, Q8QZV0, Q8R4T5, Q8TF61, Q8VCR9, Q8WXF8
Diamond homologs: A1A5G4, A5PKA5, A8JQ65, A8MUH7, B3LXF2, B3NYS4, B4I4Y1, B4JHJ7, B4K6T8, B4PRE2, B4R0A5, B7WN72, D3YXJ0, D3YZU1, E9PUQ8, O14745, O43639, O55033, O55043, P15498, P16333, P27870, P54100, P70441, Q08DN7, Q14155, Q15052, Q15599, Q16760, Q28619, Q3SZK8, Q3T0X8, Q3UHD6, Q4ACU6, Q4R6G4, Q52KW0, Q570Y9, Q5F488, Q5RCF7, Q5T2W1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 190 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Trafficking of AMPA receptors | 5 | 22.1× | 5e-04 |
| Neurexins and neuroligins | 8 | 12.8× | 1e-04 |
| Neurotransmitter receptors and postsynaptic signal transmission | 8 | 6.5× | 3e-03 |
| Transmission across Chemical Synapses | 9 | 5.6× | 3e-03 |
| Neuronal System | 14 | 5.0× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of synaptic transmission, glutamatergic | 7 | 25.0× | 8e-06 |
| obsolete organic anion transport | 5 | 22.9× | 6e-04 |
| establishment or maintenance of epithelial cell apical/basal polarity | 5 | 16.6× | 2e-03 |
| adult behavior | 6 | 16.1× | 6e-04 |
| positive regulation of excitatory postsynaptic potential | 5 | 15.1× | 3e-03 |
| synapse organization | 9 | 14.4× | 8e-06 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 5 | 14.2× | 3e-03 |
| synapse assembly | 8 | 10.6× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
88 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1504 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:52010869:T:TA | acceptor_gain | 1.0000 |
| 12:52010877:GCA:G | acceptor_loss | 1.0000 |
| 12:52010878:CA:C | acceptor_loss | 1.0000 |
| 12:52010879:AG:A | acceptor_gain | 1.0000 |
| 12:52010880:GG:G | acceptor_gain | 1.0000 |
| 12:52010880:GGAA:G | acceptor_gain | 1.0000 |
| 12:52010880:GGAAA:G | acceptor_gain | 1.0000 |
| 12:52013681:T:TA | acceptor_gain | 1.0000 |
| 12:52013682:G:A | acceptor_gain | 1.0000 |
| 12:52013682:GGCA:G | acceptor_loss | 1.0000 |
| 12:52013684:CAGG:C | acceptor_loss | 1.0000 |
| 12:52013685:A:AG | acceptor_gain | 1.0000 |
| 12:52013685:AG:A | acceptor_gain | 1.0000 |
| 12:52013685:AGG:A | acceptor_gain | 1.0000 |
| 12:52013685:AGGG:A | acceptor_gain | 1.0000 |
| 12:52013686:G:GT | acceptor_gain | 1.0000 |
| 12:52013686:GG:G | acceptor_gain | 1.0000 |
| 12:52013686:GGG:G | acceptor_gain | 1.0000 |
| 12:52013686:GGGG:G | acceptor_gain | 1.0000 |
| 12:52013777:TCAGG:T | donor_loss | 1.0000 |
| 12:52013778:CAGGT:C | donor_loss | 1.0000 |
| 12:52013779:AGGTA:A | donor_loss | 1.0000 |
| 12:52013780:GGTA:G | donor_loss | 1.0000 |
| 12:52013781:G:T | donor_loss | 1.0000 |
| 12:52013782:T:A | donor_loss | 1.0000 |
| 12:52013869:A:AG | acceptor_gain | 1.0000 |
| 12:52013875:A:AG | acceptor_gain | 1.0000 |
| 12:52013875:AGACT:A | acceptor_gain | 1.0000 |
| 12:52013876:G:GG | acceptor_gain | 1.0000 |
| 12:52013876:GA:G | acceptor_gain | 1.0000 |
AlphaMissense
2478 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:52010924:T:C | F114L | 1.000 |
| 12:52010925:T:C | F114S | 1.000 |
| 12:52010926:T:A | F114L | 1.000 |
| 12:52010926:T:G | F114L | 1.000 |
| 12:52011091:T:A | V135D | 1.000 |
| 12:52011133:T:C | L149P | 1.000 |
| 12:52013696:T:A | I155N | 1.000 |
| 12:52013705:T:A | V158D | 1.000 |
| 12:52013756:T:A | I175N | 1.000 |
| 12:52013918:T:C | L197P | 1.000 |
| 12:52013930:T:C | L201P | 1.000 |
| 12:52013939:T:C | L204P | 1.000 |
| 12:52014172:T:C | L218P | 1.000 |
| 12:52010918:T:C | F112L | 0.999 |
| 12:52010920:C:A | F112L | 0.999 |
| 12:52010920:C:G | F112L | 0.999 |
| 12:52010921:G:C | G113R | 0.999 |
| 12:52010922:G:T | G113V | 0.999 |
| 12:52010931:T:A | I116N | 0.999 |
| 12:52010931:T:C | I116T | 0.999 |
| 12:52010931:T:G | I116S | 0.999 |
| 12:52010934:A:C | Q117P | 0.999 |
| 12:52011040:C:T | T118I | 0.999 |
| 12:52011042:T:G | Y119D | 0.999 |
| 12:52011046:G:A | G120D | 0.999 |
| 12:52011087:T:C | F134L | 0.999 |
| 12:52011089:T:A | F134L | 0.999 |
| 12:52011089:T:G | F134L | 0.999 |
| 12:52011100:T:A | V138D | 0.999 |
| 12:52011118:C:A | A144D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000183216 (12:52009771 G>C), RS1000525479 (12:52008168 T>C), RS1000527770 (12:52015510 C>T), RS1000719644 (12:52008555 TG>T), RS1000823845 (12:52015296 G>A), RS1001041457 (12:52008418 C>A), RS1001173134 (12:52008291 G>A), RS1001187300 (12:52011394 C>T), RS1001303436 (12:52011757 A>T), RS1001774344 (12:52015925 T>C), RS1002074883 (12:52009080 G>A), RS1002159028 (12:52014338 C>G,T), RS1002885157 (12:52005270 G>A), RS1003025775 (12:52007823 G>A), RS1003517478 (12:52013000 C>T)
Disease associations
OMIM: gene MIM:612027 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (1): Microphthalmia-anophthalmia-coloboma (Orphanet:98555)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002491_14 | Age-related hearing impairment | 5.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| afuresertib | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Air Pollutants, Occupational | increases expression | 1 |
| Arsenic | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Nickel | increases expression | 1 |
| Niclosamide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): presbycusis