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GALNT8

gene
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Also known as GALNAC-T8

Summary

GALNT8 (polypeptide N-acetylgalactosaminyltransferase 8, HGNC:4130) is a protein-coding gene on chromosome 12p13.32, encoding Probable polypeptide N-acetylgalactosaminyltransferase 8 (Q9NY28). Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression.

Source: NCBI Gene 26290 — RefSeq curated summary.

At a glance

  • GWAS associations: 21
  • Clinical variants (ClinVar): 109 total — 1 likely-pathogenic
  • MANE Select transcript: NM_017417

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:4130
Approved symbolGALNT8
Namepolypeptide N-acetylgalactosaminyltransferase 8
Location12p13.32
Locus typegene with protein product
StatusApproved
AliasesGALNAC-T8
Ensembl geneENSG00000130035
Ensembl biotypeprotein_coding
OMIM606250
Entrez26290

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000252318, ENST00000535354, ENST00000541339, ENST00000542998, ENST00000648865, ENST00000902363

RefSeq mRNA: 1 — MANE Select: NM_017417 NM_017417

CCDS: CCDS8533

Canonical transcript exons

ENST00000252318 — 11 exons

ExonStartEnd
ENSE0000089310747204004720888
ENSE0000089311047445174744700
ENSE0000089311147454294745626
ENSE0000089311247461444746258
ENSE0000089311347609584761143
ENSE0000089311447632534763390
ENSE0000089311547639524764047
ENSE0000089311647653794765546
ENSE0000089311747724454772726
ENSE0000351774847391634739329
ENSE0000363661347265324726829

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 89.54.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1757 / max 35.1181, expressed in 73 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
1235900.415272
1235850.125361
1235890.053120
1235820.041013
1235880.031215
1235830.00944

Top tissues by expression

260 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534389.54gold quality
vena cavaUBERON:000408789.15silver quality
rectumUBERON:000105288.35gold quality
right frontal lobeUBERON:000281088.35gold quality
dorsolateral prefrontal cortexUBERON:000983488.32gold quality
Brodmann (1909) area 9UBERON:001354088.19gold quality
prefrontal cortexUBERON:000045188.01gold quality
anterior cingulate cortexUBERON:000983588.00gold quality
cingulate cortexUBERON:000302787.99gold quality
neocortexUBERON:000195086.80gold quality
ponsUBERON:000098886.78gold quality
frontal cortexUBERON:000187086.78gold quality
cerebellar vermisUBERON:000472086.78silver quality
endothelial cellCL:000011586.47silver quality
tongue squamous epitheliumUBERON:000691986.27silver quality
substantia nigra pars compactaUBERON:000196586.05gold quality
substantia nigra pars reticulataUBERON:000196685.91gold quality
cerebral cortexUBERON:000095685.59gold quality
Brodmann (1909) area 46UBERON:000648385.49gold quality
occipital lobeUBERON:000202185.43gold quality
primary visual cortexUBERON:000243685.11gold quality
ventral tegmental areaUBERON:000269184.55silver quality
dorsal root ganglionUBERON:000004484.13gold quality
orbitofrontal cortexUBERON:000416784.08silver quality
subthalamic nucleusUBERON:000190684.07silver quality
lateral globus pallidusUBERON:000247683.89silver quality
hypothalamusUBERON:000189883.88gold quality
medulla oblongataUBERON:000189683.63silver quality
inferior olivary complexUBERON:000212783.30silver quality
left testisUBERON:000453383.24gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes3.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting GALNT8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-365999.7067.97694
HSA-MIR-464399.4967.631791
HSA-MIR-3160-5P99.2869.071938
HSA-MIR-320E97.4965.96865
HSA-MIR-122-5P97.2364.921024
HSA-MIR-3192-5P96.9865.761926
HSA-MIR-4436B-5P96.7168.371346
HSA-MIR-125896.0867.74700

Literature-anchored findings (GeneRIF, showing 6)

  • This enzyme initiates O-glycan synthesis in IgA1 the hinge region. (PMID:12438318)
  • GALNT8 variants were associated with treatment outcome independently of HCV genotype. (PMID:23034592)
  • we integrated different computational tools to perform the in silico analysis of clinically significant mutations (nsSNPs/single amino acid change) at both functional and structural levels, found in human GALNT3, GALNT8, GALNT12, and GALNT13 genes. (PMID:24038392)
  • Dynamic tuning of chromatin co-drives the activation of a gene cluster that includes the lncRNA GAU1 and the protein-coding gene GALNT8, thereby inducing tumorigenesis. (PMID:29741668)
  • Expression of GALNT8 and O-glycosylation of BMP receptor 1A suppress breast cancer cell proliferation by upregulating ERalpha levels. (PMID:34743989)
  • GALNT8 suppresses breast cancer cell metastasis potential by regulating EGFR O-GalNAcylation. (PMID:35220009)

Cross-species orthologs

9 orthologs

OrganismSymbolGene ID
danio_reriogalnt8a.2ENSDARG00000011869
danio_reriogalnt8a.1ENSDARG00000012355
danio_reriogalnt8b.1ENSDARG00000045851
danio_reriogalnt8b.2ENSDARG00000095324
danio_rerioGALNT8ENSDARG00000115940
drosophila_melanogasterPgant5FBGN0031681
drosophila_melanogasterPgant9FBGN0050463
caenorhabditis_elegansWBGENE00001628
caenorhabditis_elegansWBGENE00001630

Paralogs (19): GALNT16 (ENSG00000100626), GALNTL5 (ENSG00000106648), GALNT7 (ENSG00000109586), GALNT18 (ENSG00000110328), GALNT3 (ENSG00000115339), GALNT12 (ENSG00000119514), GALNT15 (ENSG00000131386), GALNT5 (ENSG00000136542), GALNT6 (ENSG00000139629), GALNT1 (ENSG00000141429), GALNT2 (ENSG00000143641), GALNT13 (ENSG00000144278), GALNT14 (ENSG00000158089), GALNT10 (ENSG00000164574), GALNTL6 (ENSG00000174473), GALNT11 (ENSG00000178234), GALNT9 (ENSG00000182870), GALNT17 (ENSG00000185274), GALNT4 (ENSG00000257594)

Protein

Protein identifiers

Probable polypeptide N-acetylgalactosaminyltransferase 8 — Q9NY28 (reviewed: Q9NY28)

Alternative names: Polypeptide GalNAc transferase 8, Protein-UDP acetylgalactosaminyltransferase 8, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8

All UniProt accessions (3): Q9NY28, H0YFU9, H0YGU9

UniProt curated annotations — full annotation on UniProt →

Function. Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Widely expressed. Expressed in heart, skeletal muscle, kidney, liver, small intestine and placenta. Weakly expressed in colon, thymus, spleen, lung and leukocyte.

Domain organisation. There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding. The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.

RefSeq proteins (1): NP_059113* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000772Ricin_B_lectinDomain
IPR001173Glyco_trans_2-likeDomain
IPR029044Nucleotide-diphossugar_transHomologous_superfamily
IPR035992Ricin_B-like_lectinsHomologous_superfamily
IPR045885GalNAc-TDomain

Pfam: PF00535, PF00652

Catalyzed reactions (Rhea), 2 shown:

  • L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + UDP + H(+) (RHEA:23956)
  • L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + UDP + H(+) (RHEA:52424)

UniProt features (32 total): sequence variant 10, binding site 7, disulfide bond 5, glycosylation site 3, topological domain 2, region of interest 2, chain 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9NY28-F186.440.75

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (7): 280; 409; 412; 417; 221; 255; 278

Disulfide bonds (5): 171–404, 395–474, 509–525, 556–571, 599–617

Glycosylation sites (3): 85, 107, 160

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-913709O-linked glycosylation of mucins

MSigDB gene sets: 36 (showing top): ROVERSI_GLIOMA_COPY_NUMBER_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, WAGNER_APO2_SENSITIVITY, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GOMF_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_POLYPEPTIDE_N_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY, GOMF_UDP_GLYCOSYLTRANSFERASE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION

GO Biological Process (3): protein O-linked glycosylation (GO:0006493), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (5): polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653), carbohydrate binding (GO:0030246), metal ion binding (GO:0046872), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
O-linked glycosylation1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
glycoprotein biosynthetic process1
protein O-linked glycosylation1
acetylgalactosaminyltransferase activity1
catalytic activity, acting on a protein1
binding1
cation binding1
catalytic activity1
transferase activity1
Golgi apparatus1
bounding membrane of organelle1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
cellular anatomical structure1

Protein interactions and networks

STRING

330 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GALNT8B4GALNT1Q00973850
GALNT8TCEA1P23193392
GALNT8C1GALT1Q9NS00386
GALNT8CANT1Q8WVQ1377
GALNT8DNAJC17Q9NVM6337
GALNT8GCNT3O95395319
GALNT8GCNT1Q02742319
GALNT8C1GALT1C1Q96EU7319
GALNT8ST6GALNAC1Q9NSC7316
GALNT8SLC15A5A6NIM6313
GALNT8CDADC1Q9BWV3302
GALNT8UBIAD1Q9Y5Z9273
GALNT8PIGLQ9Y2B2271
GALNT8SPDYE16A6NNV3266
GALNT8GANABQ14697260

IntAct

4 interactions, top by confidence:

ABTypeScore
CSNK2A2CNOT1psi-mi:“MI:0914”(association)0.350
GALNT8CANXpsi-mi:“MI:0914”(association)0.350
CSNK2A2MEN1psi-mi:“MI:0914”(association)0.350

BioGRID (11): GALNT8 (Affinity Capture-MS), DOLK (Two-hybrid), ITPRIP (Affinity Capture-MS), ATL3 (Affinity Capture-MS), SLC9A8 (Affinity Capture-MS), RMND1 (Affinity Capture-MS), CANX (Affinity Capture-MS), TMEM164 (Affinity Capture-MS), GALNT8 (Affinity Capture-MS), GALNT8 (Cross-Linking-MS (XL-MS)), GALNT8 (Affinity Capture-RNA)

ESM2 similar proteins: A0A2D0TC04, A1A4K5, A2VDP5, A8K7I4, J3SBP3, J3SEZ3, O14638, P06802, P0DQQ4, P15396, P18563, P18564, P22413, P54793, P97259, P97675, Q08834, Q09328, Q13822, Q14CN2, Q1RPR6, Q29444, Q2TU62, Q32KH8, Q3SZI1, Q4FZV0, Q5FYA8, Q5GF25, Q5R5M5, Q64610, Q6AYF4, Q6DDW2, Q6DYE8, Q6NXH2, Q6PT52, Q6Q473, Q863C4, Q8BTJ4, Q8K1B9, Q8K2I4

Diamond homologs: A8Y236, H0ZAB5, O08832, O08912, O45293, O45947, O61394, O61397, O88422, P34678, P70419, Q07537, Q10471, Q10472, Q10473, Q14435, Q29121, Q49A17, Q5EA41, Q5RFJ6, Q6DJR8, Q6IS24, Q6P6V1, Q6P9A2, Q6P9S7, Q6PB93, Q6UE39, Q6WV16, Q6WV17, Q6WV19, Q6WV20, Q7K755, Q7TT15, Q7Z4T8, Q7Z7M9, Q80VA0, Q86SF2, Q86SR1, Q8BGT9, Q8BVG5

SIGNOR signaling

1 interactions.

AEffectBMechanism
GALNT8“down-regulates activity”EGFRglycosylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

109 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance91
Likely benign5
Benign5

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
563976GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1Likely pathogenic

SpliceAI

2447 predictions. Top by Δscore:

VariantEffectΔscore
12:4720882:GATC:Gdonor_gain1.0000
12:4720887:GA:Gdonor_gain1.0000
12:4720889:G:GGdonor_gain1.0000
12:4739158:TATA:Tacceptor_loss1.0000
12:4739159:ATAG:Aacceptor_loss1.0000
12:4739160:TAGA:Tacceptor_loss1.0000
12:4739161:A:AGacceptor_gain1.0000
12:4739161:AGA:Aacceptor_loss1.0000
12:4739161:AGATG:Aacceptor_loss1.0000
12:4739162:G:GGacceptor_gain1.0000
12:4739162:G:GTacceptor_loss1.0000
12:4739162:GAT:Gacceptor_gain1.0000
12:4739326:AATGG:Adonor_loss1.0000
12:4739327:ATGGT:Adonor_loss1.0000
12:4739329:GGTGA:Gdonor_loss1.0000
12:4739330:GT:Gdonor_loss1.0000
12:4739331:T:Adonor_loss1.0000
12:4744698:GTG:Gdonor_gain1.0000
12:4745622:GTGAA:Gdonor_gain1.0000
12:4745627:G:GGdonor_gain1.0000
12:4760953:T:TAacceptor_gain1.0000
12:4760955:CA:Cacceptor_loss1.0000
12:4760956:A:ACacceptor_loss1.0000
12:4760956:A:AGacceptor_gain1.0000
12:4760956:AG:Aacceptor_gain1.0000
12:4760957:G:GAacceptor_gain1.0000
12:4760957:GG:Gacceptor_gain1.0000
12:4760957:GGT:Gacceptor_gain1.0000
12:4760957:GGTGT:Gacceptor_gain1.0000
12:4761140:CCAGG:Cdonor_loss1.0000

AlphaMissense

4196 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:4745555:G:CW329C0.996
12:4745555:G:TW329C0.996
12:4745553:T:AW329R0.995
12:4745553:T:CW329R0.995
12:4746250:A:CS389R0.995
12:4746252:C:AS389R0.995
12:4746252:C:GS389R0.995
12:4745547:T:CF327L0.991
12:4745549:T:AF327L0.991
12:4745549:T:GF327L0.991
12:4746240:C:AN385K0.991
12:4746240:C:GN385K0.991
12:4761082:C:AA433D0.990
12:4761090:T:AW436R0.990
12:4761090:T:CW436R0.990
12:4763313:T:AC474S0.990
12:4763314:G:CC474S0.990
12:4772549:G:CW622C0.990
12:4772549:G:TW622C0.990
12:4746145:A:CS354R0.989
12:4746147:T:AS354R0.989
12:4746147:T:GS354R0.989
12:4760961:T:AW393R0.988
12:4760961:T:CW393R0.988
12:4744699:T:AW287R0.987
12:4744699:T:CW287R0.987
12:4761076:G:CR431P0.987
12:4763331:T:GY480D0.987
12:4765534:G:CW583C0.987
12:4765534:G:TW583C0.987

dbSNP variants (sampled 300 via entrez): RS1000033466 (12:4740412 T>G), RS1000086677 (12:4740713 A>G,T), RS1000124317 (12:4764838 C>G,T), RS1000173811 (12:4767505 T>C), RS1000224886 (12:4771708 C>T), RS1000371831 (12:4727201 G>C), RS1000377831 (12:4746875 A>C,G), RS1000484628 (12:4754025 C>A,T), RS1000518479 (12:4746469 G>T), RS1000625540 (12:4735608 G>A,C), RS1000823493 (12:4728469 G>A), RS1000846543 (12:4753708 T>A), RS1000873385 (12:4755950 C>G,T), RS1000929864 (12:4748354 G>T), RS1001085009 (12:4728705 C>T)

Disease associations

OMIM: gene MIM:606250 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

21 associations (top):

StudyTraitp-value
GCST003875_10Gut microbiota (bacterial taxa)7.000000e-09
GCST010796_5354Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-12
GCST010796_5355Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-12
GCST010796_5356Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-12
GCST010796_5357Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-11
GCST010796_5358Electrocardiogram morphology (amplitude at temporal datapoints)6.000000e-12
GCST010796_5359Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-12
GCST010796_5360Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-10
GCST010796_5361Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-10
GCST010796_5362Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-10
GCST010796_5363Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-09
GCST010796_5364Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-08
GCST010796_5365Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-08
GCST010796_5366Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-09
GCST010796_5367Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-09
GCST010796_5368Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-10
GCST010796_5369Electrocardiogram morphology (amplitude at temporal datapoints)6.000000e-11
GCST010796_5370Electrocardiogram morphology (amplitude at temporal datapoints)6.000000e-10
GCST010796_5371Electrocardiogram morphology (amplitude at temporal datapoints)4.000000e-09
GCST010796_5372Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-09
GCST010796_5373Electrocardiogram morphology (amplitude at temporal datapoints)7.000000e-10

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0007874gut microbiome measurement
EFO:0007883taxonomic microbiome measurement
EFO:0004327electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, increases methylation2
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
arseniteincreases methylation1
benzo(e)pyreneincreases methylation1
Sunitinibdecreases expression1
Diethylhexyl Phthalatedecreases expression1
Folic Acidincreases expression1
Methapyrileneincreases methylation1
Aflatoxin B1decreases methylation1
Antirheumatic Agentsdecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot