ITIH3
gene geneOn this page
Also known as H3P
Summary
ITIH3 (inter-alpha-trypsin inhibitor heavy chain 3, HGNC:6168) is a protein-coding gene on chromosome 3p21.1, encoding Inter-alpha-trypsin inhibitor heavy chain H3 (Q06033). May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological p….
This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3.
Source: NCBI Gene 3699 — RefSeq curated summary.
At a glance
- GWAS associations: 36
- Clinical variants (ClinVar): 149 total
- MANE Select transcript:
NM_002217
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6168 |
| Approved symbol | ITIH3 |
| Name | inter-alpha-trypsin inhibitor heavy chain 3 |
| Location | 3p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | H3P |
| Ensembl gene | ENSG00000162267 |
| Ensembl biotype | protein_coding |
| OMIM | 146650 |
| Entrez | 3699 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 6 protein_coding, 6 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000416872, ENST00000449956, ENST00000463893, ENST00000464804, ENST00000465243, ENST00000465314, ENST00000467268, ENST00000475931, ENST00000493136, ENST00000495622, ENST00000703834, ENST00000889655, ENST00000889656, ENST00000956185
RefSeq mRNA: 10 — MANE Select: NM_002217
NM_001392019, NM_001392020, NM_001392021, NM_001392022, NM_001392023, NM_001392024, NM_001392025, NM_001392026, NM_001392027, NM_002217
CCDS: CCDS46845, CCDS93287, CCDS93288
Canonical transcript exons
ENST00000449956 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000421360 | 52797105 | 52797267 |
| ENSE00000860983 | 52796481 | 52796647 |
| ENSE00000860984 | 52796739 | 52796843 |
| ENSE00000860994 | 52802334 | 52802519 |
| ENSE00000967008 | 52803855 | 52804009 |
| ENSE00001063865 | 52795603 | 52795623 |
| ENSE00001887856 | 52794796 | 52794896 |
| ENSE00002335101 | 52804726 | 52804734 |
| ENSE00002372748 | 52805808 | 52805840 |
| ENSE00002394019 | 52797817 | 52797930 |
| ENSE00002419924 | 52808552 | 52808797 |
| ENSE00003470521 | 52806103 | 52806138 |
| ENSE00003477026 | 52800538 | 52800663 |
| ENSE00003526461 | 52799372 | 52799488 |
| ENSE00003533227 | 52808110 | 52808221 |
| ENSE00003599454 | 52807747 | 52807916 |
| ENSE00003610693 | 52802667 | 52802806 |
| ENSE00003613664 | 52800965 | 52801146 |
| ENSE00003649140 | 52798966 | 52799091 |
| ENSE00003671701 | 52806293 | 52806406 |
| ENSE00003678787 | 52799753 | 52799921 |
| ENSE00003687999 | 52806901 | 52807105 |
Expression profiles
Bgee: expression breadth ubiquitous, 178 present calls, max score 99.67.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 5.6938 / max 2609.3115, expressed in 82 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36906 | 5.6424 | 81 |
| 36908 | 0.0289 | 5 |
| 36909 | 0.0225 | 4 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 99.67 | gold quality |
| liver | UBERON:0002107 | 99.52 | gold quality |
| right coronary artery | UBERON:0001625 | 97.87 | gold quality |
| popliteal artery | UBERON:0002250 | 97.78 | gold quality |
| tibial artery | UBERON:0007610 | 97.78 | gold quality |
| left coronary artery | UBERON:0001626 | 94.87 | gold quality |
| coronary artery | UBERON:0001621 | 94.37 | gold quality |
| saphenous vein | UBERON:0007318 | 93.36 | gold quality |
| aorta | UBERON:0000947 | 88.31 | gold quality |
| tibial nerve | UBERON:0001323 | 86.08 | gold quality |
| sural nerve | UBERON:0015488 | 85.73 | gold quality |
| spleen | UBERON:0002106 | 84.58 | gold quality |
| blood vessel layer | UBERON:0004797 | 84.00 | gold quality |
| sperm | CL:0000019 | 80.19 | silver quality |
| right lung | UBERON:0002167 | 80.11 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 78.86 | gold quality |
| endocervix | UBERON:0000458 | 78.30 | gold quality |
| gastrocnemius | UBERON:0001388 | 78.30 | gold quality |
| male germ cell | CL:0000015 | 77.69 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.64 | gold quality |
| left testis | UBERON:0004533 | 77.44 | gold quality |
| muscle of leg | UBERON:0001383 | 77.26 | gold quality |
| right testis | UBERON:0004534 | 76.92 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.89 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 76.53 | gold quality |
| thoracic aorta | UBERON:0001515 | 76.32 | gold quality |
| body of uterus | UBERON:0009853 | 76.25 | gold quality |
| ascending aorta | UBERON:0001496 | 76.13 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 75.68 | gold quality |
| testis | UBERON:0000473 | 75.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ATF4, GLI1, KLF4, SP1
miRNA regulators (miRDB)
14 targeting ITIH3, 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-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-6126 | 99.62 | 68.09 | 996 |
| HSA-MIR-6895-3P | 98.79 | 65.69 | 996 |
| HSA-MIR-4297 | 98.77 | 66.95 | 2013 |
| HSA-MIR-8060 | 98.61 | 66.93 | 1187 |
| HSA-MIR-5008-5P | 98.42 | 65.87 | 1019 |
| HSA-MIR-4277 | 98.34 | 67.17 | 1323 |
| HSA-MIR-4308 | 97.56 | 67.13 | 1385 |
| HSA-MIR-558 | 97.50 | 67.16 | 977 |
| HSA-MIR-2467-5P | 97.36 | 67.71 | 991 |
| HSA-MIR-4749-3P | 96.40 | 66.24 | 798 |
| HSA-MIR-5009-5P | 94.82 | 63.89 | 775 |
| HSA-MIR-8058 | 94.76 | 63.41 | 632 |
Literature-anchored findings (GeneRIF, showing 14)
- Transfection into H460M Human large cell lung carcinoma line decreased tumor metastasis in nude mice (PMID:11807786)
- ITIH3 single-nucleotide polymorphism is a novel genetic risk factor of myocardial infarction. (PMID:17211523)
- Widespread heavy chain 3 was only present in urinary stone formers (PMID:17898697)
- ITIH3 protein was found to be more highly expressed in plasma of tumor bearing mice compared to control. (PMID:20515073)
- This study demonistrated that Genome-wide significant associations in schizophrenia to ITIH3/4 and extensive replication of associations reported by the Schizophrenia. (PMID:22614287)
- Study showed the association of a polymorphism (rs2535629) of ITIH3 with psychiatric disorders in an Asian population and that rs2535629 influences the susceptibility to psychiatric disorders by affecting the expression level of GLT8D1 (PMID:24373612)
- A novel association between suicide attempt and the ITIH3/4-region in a combined group of patients with bipolar disorder, schizophrenia and related psychosis spectrum disorders. (PMID:24461634)
- confirmed the association of schizophrenia with ITIH3/4 in a Han Chinese population (PMID:26206863)
- ITIH3 rs2535629 SNP was genotyped in N=256 patients receiving various antipsychotics for up to 26weeks. Study found no association of genotype with overall changes in Brief Psychiatric Rating Scale scores, but greater improvement of negative symptoms in minor allele carriers indicates that rs2535629 may help to identify a subset of schizophrenia patients with better treatment response to clozapine. (PMID:27396837)
- ITIH3 SNPs rs2535629 and rs736408 were studied in pregnant depressed Japanese women. Neither was related to depressive symptoms during pregnancy.The GCCT haplotype of rs2535629, rs736408, rs3821831, and rs2239547 was significantly positively associated with depressive symptoms during pregnancy. (PMID:29992445)
- Integrative analyses indicate an association between ITIH3 polymorphisms with autism spectrum disorder. (PMID:32251353)
- A functional missense variant in ITIH3 affects protein expression and neurodevelopment and confers schizophrenia risk in the Han Chinese population. (PMID:32712163)
- Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression. (PMID:34978167)
- A psychiatric disorder risk polymorphism of ITIH3 is associated with multiple neuroimaging phenotypes in young healthy adults. (PMID:35261121)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | itih3a.1 | ENSDARG00000055036 |
| danio_rerio | itih3a.2 | ENSDARG00000055053 |
| mus_musculus | Itih3 | ENSMUSG00000006522 |
| rattus_norvegicus | Itih3 | ENSRNOG00000017689 |
Paralogs (11): ITIH4 (ENSG00000055955), ITIH1 (ENSG00000055957), ITIH6 (ENSG00000102313), PARP4 (ENSG00000102699), VWA5A (ENSG00000110002), ITIH5 (ENSG00000123243), VWA5B2 (ENSG00000145198), ITIH2 (ENSG00000151655), VWA5B1 (ENSG00000158816), VWA3B (ENSG00000168658), VWA3A (ENSG00000175267)
Protein
Protein identifiers
Inter-alpha-trypsin inhibitor heavy chain H3 — Q06033 (reviewed: Q06033)
Alternative names: Serum-derived hyaluronan-associated protein
All UniProt accessions (3): A0A994J439, E7ET33, Q06033
UniProt curated annotations — full annotation on UniProt →
Function. May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.
Subunit / interactions. I-alpha-I plasma protease inhibitors are assembled from one or two heavy chains (HC) and one light chain, bikunin. Pre-alpha-inhibitor (P-alpha-I) is composed of ITIH3/HC3 and bikunin.
Subcellular location. Secreted.
Post-translational modifications. Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage.
Similarity. Belongs to the ITIH family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q06033-1 | 1 | yes |
| Q06033-2 | 2 |
RefSeq proteins (10): NP_001378948, NP_001378949, NP_001378950, NP_001378951, NP_001378952, NP_001378953, NP_001378954, NP_001378955, NP_001378956, NP_002208* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002035 | VWF_A | Domain |
| IPR010600 | ITI_HC_C | Domain |
| IPR013694 | VIT | Domain |
| IPR036465 | vWFA_dom_sf | Homologous_superfamily |
| IPR050934 | ITIH | Family |
Pfam: PF00092, PF06668, PF08487
UniProt features (23 total): sequence conflict 7, sequence variant 6, propeptide 2, domain 2, glycosylation site 2, signal peptide 1, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q06033-F1 | 83.13 | 0.53 |
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 (1): 651
Glycosylation sites (2): 91, 580
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-114608 | Platelet degranulation |
| R-HSA-109582 | Hemostasis |
| R-HSA-76002 | Platelet activation, signaling and aggregation |
| R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
MSigDB gene sets: 162 (showing top):
MORF_MSH3, GNF2_GSTM1, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GNF2_HPN, MORF_BRCA1, MODULE_453, GGGTGGRR_PAX4_03, MORF_RAD51L3, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GHO_ATF5_TARGETS_UP, GOBP_HYALURONAN_METABOLIC_PROCESS, WANG_RESPONSE_TO_BEXAROTENE_DN, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN
GO Biological Process (1): hyaluronan metabolic process (GO:0030212)
GO Molecular Function (4): endopeptidase inhibitor activity (GO:0004866), serine-type endopeptidase inhibitor activity (GO:0004867), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)
GO Cellular Component (3): extracellular region (GO:0005576), platelet dense granule lumen (GO:0031089), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Response to elevated platelet cytosolic Ca2+ | 1 |
| Hemostasis | 1 |
| Platelet activation, signaling and aggregation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| glycosaminoglycan metabolic process | 1 |
| endopeptidase activity | 1 |
| peptidase inhibitor activity | 1 |
| endopeptidase regulator activity | 1 |
| serine-type endopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| binding | 1 |
| enzyme inhibitor activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| cellular anatomical structure | 1 |
| secretory granule lumen | 1 |
| platelet dense granule | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1898 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ITIH3 | AMBP | P00977 | 881 |
| ITIH3 | APOA1 | P02647 | 734 |
| ITIH3 | APOE | P02649 | 679 |
| ITIH3 | TENM4 | Q6N022 | 646 |
| ITIH3 | APOL1 | O14791 | 627 |
| ITIH3 | NEK4 | P51957 | 612 |
| ITIH3 | ITIH2 | P19823 | 609 |
| ITIH3 | ITIH1 | P19827 | 593 |
| ITIH3 | SERPINA10 | Q9UK55 | 563 |
| ITIH3 | NT5C2 | P49902 | 534 |
| ITIH3 | GLT8D1 | Q68CQ7 | 517 |
| ITIH3 | SYNE1 | Q8NF91 | 509 |
| ITIH3 | TRANK1 | O15050 | 509 |
| ITIH3 | GC | P02774 | 509 |
| ITIH3 | TRIM26 | Q12899 | 493 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CST7 | CTSL | psi-mi:“MI:0914”(association) | 0.530 |
| ITIH3 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| EP300 | ITIH3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 | |
| MAPT | LANCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| TNFAIP6 | ZMYM6 | psi-mi:“MI:0914”(association) | 0.350 |
| ITIH3 | HSP90B1 | psi-mi:“MI:0914”(association) | 0.350 |
| TNFAIP6 | ITIH2 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD6 | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (33): ITIH3 (Affinity Capture-MS), ITIH3 (Affinity Capture-MS), ITIH3 (Affinity Capture-MS), ITIH3 (Affinity Capture-MS), ITIH3 (Two-hybrid), ITIH3 (Affinity Capture-MS), ITIH3 (Affinity Capture-MS), ITIH3 (Affinity Capture-MS), ITIH3 (Affinity Capture-MS), ITIH3 (Affinity Capture-MS), ITIH3 (Affinity Capture-MS), IKBIP (Affinity Capture-MS), METAP1 (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), HSP90B1 (Affinity Capture-MS)
ESM2 similar proteins: A0AAQ4VMX2, A0RZC6, A8K7I4, C9XI63, C9XI66, I2C090, J3S836, P01023, P01024, P01025, P01026, P01027, P01029, P01030, P01031, P06684, P06756, P08649, P08650, P0C0L4, P0C0L5, P12247, P12387, P19069, P20740, P26007, P26008, P56652, P80746, P97280, P98093, Q01833, Q06033, Q0ZZJ6, Q2UVX4, Q3UU35, Q5RB37, Q61704, Q61739, Q63041
Diamond homologs: A2VE29, A6X935, O02668, P19823, P19827, P56652, P79263, P97278, P97279, P97280, Q06033, Q0VCM5, Q14624, Q29052, Q3T052, Q5RB37, Q5RER0, Q61702, Q61703, Q61704, Q63416, Q6UXX5, Q86UX2, Q8BJD1, Q9GLY5, P56651, A1A5Q7, Q5RJF7, A6NCI4, Q8CFG5, Q8IZS8, Q9Z1L5, Q3UVV9, A8XP97, P34374, Q9ZQ46
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
149 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 135 |
| Likely benign | 3 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3590 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:52795621:GGG:G | donor_gain | 1.0000 |
| 3:52795622:GGG:G | donor_gain | 1.0000 |
| 3:52796592:G:GT | donor_gain | 1.0000 |
| 3:52796644:CCTT:C | donor_gain | 1.0000 |
| 3:52796646:TT:T | donor_gain | 1.0000 |
| 3:52796648:G:GG | donor_gain | 1.0000 |
| 3:52796734:TGCAG:T | acceptor_loss | 1.0000 |
| 3:52796735:GCAGG:G | acceptor_loss | 1.0000 |
| 3:52796737:A:AG | acceptor_gain | 1.0000 |
| 3:52796737:AG:A | acceptor_gain | 1.0000 |
| 3:52796737:AGGAC:A | acceptor_loss | 1.0000 |
| 3:52796738:G:GC | acceptor_gain | 1.0000 |
| 3:52796738:GG:G | acceptor_gain | 1.0000 |
| 3:52796738:GGA:G | acceptor_gain | 1.0000 |
| 3:52796738:GGAC:G | acceptor_gain | 1.0000 |
| 3:52796738:GGACC:G | acceptor_gain | 1.0000 |
| 3:52796839:GTCAA:G | donor_gain | 1.0000 |
| 3:52796840:TC:T | donor_gain | 1.0000 |
| 3:52796840:TCAA:T | donor_gain | 1.0000 |
| 3:52796841:CAA:C | donor_gain | 1.0000 |
| 3:52796841:CAAG:C | donor_loss | 1.0000 |
| 3:52796842:AA:A | donor_gain | 1.0000 |
| 3:52796844:G:GG | donor_gain | 1.0000 |
| 3:52796844:GT:G | donor_loss | 1.0000 |
| 3:52796848:G:GG | donor_gain | 1.0000 |
| 3:52797098:T:TA | acceptor_gain | 1.0000 |
| 3:52797805:T:TA | acceptor_gain | 1.0000 |
| 3:52797810:A:AG | acceptor_gain | 1.0000 |
| 3:52797813:TCAG:T | acceptor_loss | 1.0000 |
| 3:52797815:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
5930 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:52800646:A:T | D395V | 0.998 |
| 3:52799451:A:C | D290A | 0.997 |
| 3:52799451:A:T | D290V | 0.997 |
| 3:52799452:C:A | D290E | 0.997 |
| 3:52799452:C:G | D290E | 0.997 |
| 3:52799456:A:C | S292R | 0.997 |
| 3:52799458:C:A | S292R | 0.997 |
| 3:52799458:C:G | S292R | 0.997 |
| 3:52799819:T:C | F325L | 0.997 |
| 3:52799821:C:A | F325L | 0.997 |
| 3:52799821:C:G | F325L | 0.997 |
| 3:52800643:C:T | T394I | 0.997 |
| 3:52799450:G:C | D290H | 0.996 |
| 3:52799457:G:T | S292I | 0.996 |
| 3:52800541:C:T | T360I | 0.996 |
| 3:52800555:G:T | G365W | 0.996 |
| 3:52800647:T:A | D395E | 0.996 |
| 3:52800647:T:G | D395E | 0.996 |
| 3:52797179:T:C | L154P | 0.995 |
| 3:52799457:G:A | S292N | 0.995 |
| 3:52803943:T:C | S600P | 0.995 |
| 3:52797130:T:C | F138L | 0.994 |
| 3:52797132:C:A | F138L | 0.994 |
| 3:52797132:C:G | F138L | 0.994 |
| 3:52799766:T:C | L307P | 0.994 |
| 3:52799840:T:A | W332R | 0.994 |
| 3:52799840:T:C | W332R | 0.994 |
| 3:52799842:G:C | W332C | 0.994 |
| 3:52799842:G:T | W332C | 0.994 |
| 3:52800640:T:C | L393P | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000008868 (3:52803885 C>A,T), RS1000036222 (3:52802120 T>C), RS1000226377 (3:52803710 T>C), RS1000601227 (3:52797596 T>A), RS1000921728 (3:52794196 G>A), RS1001013190 (3:52805404 T>C), RS1001388848 (3:52797026 G>T), RS1001408044 (3:52808928 T>C), RS1001419602 (3:52803517 C>T), RS1001487574 (3:52799541 G>A,C,T), RS1001662652 (3:52802178 G>A), RS1001941526 (3:52792914 C>A), RS1001974899 (3:52793242 G>A,C), RS1002306343 (3:52798886 C>T), RS1002448276 (3:52804795 G>C)
Disease associations
OMIM: gene MIM:146650 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
36 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001241_15 | Bipolar disorder | 2.000000e-06 |
| GCST001242_6 | Schizophrenia | 6.000000e-08 |
| GCST001535_1 | Immune reponse to smallpox (secreted IL-2) | 2.000000e-09 |
| GCST001877_7 | Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) | 3.000000e-12 |
| GCST002149_14 | Schizophrenia | 1.000000e-08 |
| GCST002539_48 | Schizophrenia | 4.000000e-11 |
| GCST002647_89 | Height | 5.000000e-17 |
| GCST004521_123 | Autism spectrum disorder or schizophrenia | 3.000000e-12 |
| GCST004521_201 | Autism spectrum disorder or schizophrenia | 4.000000e-08 |
| GCST004521_259 | Autism spectrum disorder or schizophrenia | 6.000000e-09 |
| GCST004601_41 | Red blood cell count | 2.000000e-09 |
| GCST004902_20 | Parkinson’s disease | 3.000000e-08 |
| GCST004904_157 | Body mass index | 2.000000e-12 |
| GCST006803_55 | Schizophrenia | 1.000000e-11 |
| GCST007201_166 | Schizophrenia | 1.000000e-10 |
| GCST007255_2 | Broad depression or bipolar disorder | 1.000000e-09 |
| GCST007257_5 | Broad depression or schizophrenia | 2.000000e-11 |
| GCST007483_25 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 2.000000e-12 |
| GCST007487_51 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 5.000000e-14 |
| GCST007492_12 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 3.000000e-06 |
| GCST007494_1 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 7.000000e-08 |
| GCST007500_42 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 2.000000e-08 |
| GCST007502_39 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 1.000000e-08 |
| GCST008103_3 | Bipolar disorder | 7.000000e-11 |
| GCST009600_27 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 5.000000e-17 |
| GCST010083_295 | Hemoglobin levels | 3.000000e-11 |
| GCST010698_14 | Subcortical volume (min-P) | 8.000000e-09 |
| GCST010699_73 | Brain morphology (min-P) | 1.000000e-18 |
| GCST010701_137 | Cortical surface area (MOSTest) | 8.000000e-10 |
| GCST010702_70 | Subcortical volume (MOSTest) | 2.000000e-11 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004645 | response to vaccine |
| EFO:0004873 | cytokine measurement |
| EFO:0004305 | erythrocyte count |
| EFO:0004340 | body mass index |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0005670 | smoking initiation |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs2535629 | Efficacy | 3 | clozapine | Schizophrenia |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2535629 | ITIH3 | 3 | 1.50 | 1 | clozapine |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression, decreases expression | 3 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| trimellitic anhydride | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| periodate-oxidized adenosine | affects expression | 1 |
| triadimefon | decreases expression | 1 |
| ciglitazone | affects binding, increases expression | 1 |
| 2,3-dimethoxy-1,4-naphthoquinone | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Antimony | decreases expression | 1 |
| Antimony Potassium Tartrate | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Bleomycin | increases expression | 1 |
| Chenodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Chromium | decreases expression | 1 |
| Deoxycholic Acid | increases expression, affects cotreatment | 1 |
| Glycochenodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Glycocholic Acid | affects cotreatment, increases expression | 1 |
| Glycodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Mercury | decreases expression | 1 |
| Nickel | affects binding | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.