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PKNOX2

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Summary

PKNOX2 (PBX/knotted 1 homeobox 2, HGNC:16714) is a protein-coding gene on chromosome 11q24.2, encoding Homeobox protein PKNOX2 (Q96KN3).

Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).

Source: NCBI Gene 63876 — RefSeq curated summary.

At a glance

  • GWAS associations: 19
  • Clinical variants (ClinVar): 59 total
  • MANE Select transcript: NM_001382323

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16714
Approved symbolPKNOX2
NamePBX/knotted 1 homeobox 2
Location11q24.2
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000165495
Ensembl biotypeprotein_coding
OMIM613066
Entrez63876

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 15 protein_coding, 7 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000298282, ENST00000526955, ENST00000527238, ENST00000530517, ENST00000531116, ENST00000531212, ENST00000532623, ENST00000557814, ENST00000558705, ENST00000558729, ENST00000559662, ENST00000561115, ENST00000561298, ENST00000561399, ENST00000878493, ENST00000878494, ENST00000878495, ENST00000878496, ENST00000878497, ENST00000878498, ENST00000878499, ENST00000878500, ENST00000920818, ENST00000920819, ENST00000950472

RefSeq mRNA: 19 — MANE Select: NM_001382323 NM_001382323, NM_001382324, NM_001382325, NM_001382326, NM_001382327, NM_001382328, NM_001382329, NM_001382330, NM_001382331, NM_001382332, NM_001382333, NM_001382334, NM_001382335, NM_001382336, NM_001382337, NM_001382338, NM_001382339, NM_001382340, NM_001382341

CCDS: CCDS41730

Canonical transcript exons

ENST00000298282 — 13 exons

ExonStartEnd
ENSE00001432054125235045125235115
ENSE00001432959125331819125331925
ENSE00002153508125164751125164776
ENSE00002177190125431166125433389
ENSE00003695059125429012125429088
ENSE00003695303125351284125351392
ENSE00003695322125410196125410325
ENSE00003696880125385551125385722
ENSE00003696931125397874125398062
ENSE00003697988125411746125411865
ENSE00003698674125429963125430141
ENSE00003698731125367846125367985
ENSE00003700979125410779125410876

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 89.81.

FANTOM5 (CAGE): breadth broad, TPM avg 7.3789 / max 300.8850, expressed in 739 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
1174384.4718624
1174371.7061536
1174360.9318424
1174390.139861
1174400.129464

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
pigmented layer of retinaUBERON:000178289.81gold quality
sural nerveUBERON:001548889.10gold quality
right frontal lobeUBERON:000281088.40gold quality
primary visual cortexUBERON:000243688.12gold quality
prefrontal cortexUBERON:000045187.46gold quality
frontal cortexUBERON:000187086.90gold quality
cartilage tissueUBERON:000241886.34gold quality
neocortexUBERON:000195086.32gold quality
dorsolateral prefrontal cortexUBERON:000983486.19gold quality
Brodmann (1909) area 9UBERON:001354085.66gold quality
Brodmann (1909) area 23UBERON:001355485.63gold quality
superior frontal gyrusUBERON:000266185.44gold quality
tibialis anteriorUBERON:000138585.19gold quality
Brodmann (1909) area 46UBERON:000648385.17gold quality
middle temporal gyrusUBERON:000277184.99gold quality
gastrocnemiusUBERON:000138884.98gold quality
occipital lobeUBERON:000202184.92gold quality
anterior cingulate cortexUBERON:000983584.80gold quality
cingulate cortexUBERON:000302784.78gold quality
hindlimb stylopod muscleUBERON:000425284.62gold quality
muscle of legUBERON:000138384.52gold quality
postcentral gyrusUBERON:000258184.06gold quality
cerebral cortexUBERON:000095683.97gold quality
muscle organUBERON:000163083.73gold quality
orbitofrontal cortexUBERON:000416783.35gold quality
endothelial cellCL:000011582.61gold quality
right hemisphere of cerebellumUBERON:001489082.46gold quality
cortical plateUBERON:000534382.42gold quality
parietal lobeUBERON:000187282.34gold quality
quadriceps femorisUBERON:000137782.11gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ENAD-17no109.58
E-GEOD-111727no24.15
E-ANND-3no4.77

Regulation

Is transcription factor: yes

JASPAR motifs

MotifNameFamily
MA0783.1PKNOX2TALE-type homeo domain factors

JASPAR matrix evidence (PMIDs): PMID:25233378

Literature-anchored findings (GeneRIF, showing 6)

  • This novel PKNOX-related protein may interact with PBX proteins and play a role in tissue-specific regulation of transcription. (PMID:11549286)
  • Using data from several genomewide case-control studies, we identified a strong and significant association signal with a novel gene, PKNOX2, on chromosome 11 with the composite phenotype in European-origin women (PMID:21298047)
  • We identified four new loci (PKNOX2, MYH13, PHF2, and GPC6) associated with formal thought disorder in schizophrenia. (PMID:22648509)
  • PKNOX2 was significantly downregulated in Fanconi anemia cells compared to donors. (PMID:30515693)
  • PKNOX2 is a tumor suppressor in gastric cancer by activation of IGFBP5 and p53 signaling pathways (PMID:30745575)
  • PBX/Knotted 1 homeobox-2 (PKNOX2) is a novel regulator of myocardial fibrosis. (PMID:38644381)

Cross-species orthologs

10 orthologs

OrganismSymbolGene ID
danio_reriopknox2ENSDARG00000055349
mus_musculusPknox2ENSMUSG00000035934
rattus_norvegicusPknox2ENSRNOG00000028856
drosophila_melanogasterexdFBGN0000611
drosophila_melanogasterhthFBGN0001235
drosophila_melanogastervisFBGN0033748
drosophila_melanogasterachiFBGN0033749
caenorhabditis_elegansWBGENE00000443
caenorhabditis_elegansWBGENE00006796
caenorhabditis_elegansWBGENE00017690

Paralogs (13): MEIS3 (ENSG00000105419), PBX4 (ENSG00000105717), TGIF2 (ENSG00000118707), MEIS2 (ENSG00000134138), MEIS1 (ENSG00000143995), TGIF2LX (ENSG00000153779), PKNOX1 (ENSG00000160199), PBX3 (ENSG00000167081), TGIF2LY (ENSG00000176679), TGIF1 (ENSG00000177426), PBX1 (ENSG00000185630), MEIS3P2 (ENSG00000188013), PBX2 (ENSG00000204304)

Protein

Protein identifiers

Homeobox protein PKNOX2 — Q96KN3 (reviewed: Q96KN3)

Alternative names: Homeobox protein PREP-2, PBX/knotted homeobox 2

All UniProt accessions (5): E9PKL2, E9PQS4, E9PRB6, Q96KN3, H0YLX0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Similarity. Belongs to the TALE/MEIS homeobox family.

Isoforms (2)

UniProt IDNamesCanonical?
Q96KN3-11yes
Q96KN3-22

RefSeq proteins (19): NP_001369252, NP_001369253, NP_001369254, NP_001369255, NP_001369256, NP_001369257, NP_001369258, NP_001369259, NP_001369260, NP_001369261, NP_001369262, NP_001369263, NP_001369264, NP_001369265, NP_001369266, NP_001369267, NP_001369268, NP_001369269, NP_001369270 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001356HDDomain
IPR008422KN_HDDomain
IPR009057Homeodomain-like_sfHomologous_superfamily
IPR032453PKNOX/Meis_NDomain
IPR050224TALE_homeoboxFamily

Pfam: PF05920, PF16493

UniProt features (15 total): compositionally biased region 4, region of interest 4, sequence variant 2, chain 1, domain 1, splice variant 1, sequence conflict 1, DNA-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96KN3-F161.380.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 113 (showing top): BENPORATH_ES_WITH_H3K27ME3, TGACCTY_ERR1_Q2, CEBP_Q2, CAGCAGG_MIR370, AGGAGTG_MIR483, TGANTCA_AP1_C, GOMF_ACTIN_BINDING, ATAACCT_MIR154, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GRYDER_PAX3FOXO1_TOP_ENHANCERS, BLALOCK_ALZHEIMERS_DISEASE_DN, GOMF_CYTOSKELETAL_PROTEIN_BINDING, chr11q24, GOMF_ACTIN_MONOMER_BINDING, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_UP

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (7): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), actin monomer binding (GO:0003785), actin filament binding (GO:0051015), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (6): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), microtubule cytoskeleton (GO:0015630), intercellular bridge (GO:0045171), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
actin binding2
cytoskeleton2
regulation of DNA-templated transcription1
transcription by RNA polymerase II1
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
transcription cis-regulatory region binding1
protein-containing complex binding1
double-stranded DNA binding1
sequence-specific DNA binding1
nucleic acid binding1
binding1
DNA binding1
nuclear lumen1
intracellular anatomical structure1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

914 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PKNOX2HYLS1Q96M11907
PKNOX2DDX25Q9UHL0903
PKNOX2HOXB1P14653759
PKNOX2HOXB2P10913757
PKNOX2PBX1P40424620
PKNOX2PECRQ9BY49536
PKNOX2KIAA0040Q15053524
PKNOX2MYBBP1AQ9BQG0496
PKNOX2EGR2P11161431
PKNOX2SLC37A2Q8TED4429
PKNOX2CPAPQ9HC77423
PKNOX2HMBOX1Q6NT76421
PKNOX2TBPP20226415
PKNOX2SOX5P35711406
PKNOX2YY1P25490401

IntAct

127 interactions, top by confidence:

ABTypeScore
PKNOX2PBX4psi-mi:“MI:0915”(physical association)0.670
CCDC120AIPpsi-mi:“MI:0914”(association)0.640
CCDC185PKNOX2psi-mi:“MI:0915”(physical association)0.560
PKNOX2PICK1psi-mi:“MI:0915”(physical association)0.560
VPS37CPKNOX2psi-mi:“MI:0915”(physical association)0.560
ARFIP2PKNOX2psi-mi:“MI:0915”(physical association)0.560
MYO15BPKNOX2psi-mi:“MI:0915”(physical association)0.560
MBD3PKNOX2psi-mi:“MI:0915”(physical association)0.560
PKNOX2DDA1psi-mi:“MI:0915”(physical association)0.560
NRIP1PKNOX2psi-mi:“MI:0915”(physical association)0.560
CREBL2PKNOX2psi-mi:“MI:0915”(physical association)0.560
PKNOX2TSG101psi-mi:“MI:0915”(physical association)0.560
PKNOX2CSTF2Tpsi-mi:“MI:0915”(physical association)0.560
PKNOX2NUP58psi-mi:“MI:0915”(physical association)0.560
CCDC196PKNOX2psi-mi:“MI:0915”(physical association)0.560
HGSPKNOX2psi-mi:“MI:0915”(physical association)0.560
FAM110BPKNOX2psi-mi:“MI:0915”(physical association)0.560
PKNOX2CTTNBP2NLpsi-mi:“MI:0915”(physical association)0.560
CCDC116PKNOX2psi-mi:“MI:0915”(physical association)0.560
USHBP1PKNOX2psi-mi:“MI:0915”(physical association)0.560
SMARCD1PKNOX2psi-mi:“MI:0915”(physical association)0.560
IQGAP1PKNOX2psi-mi:“MI:0915”(physical association)0.560
MCRS1PKNOX2psi-mi:“MI:0915”(physical association)0.560
FHL2PKNOX2psi-mi:“MI:0915”(physical association)0.560
PKNOX2PAATpsi-mi:“MI:0915”(physical association)0.560
NUP54PKNOX2psi-mi:“MI:0915”(physical association)0.560
PKNOX2TRIB3psi-mi:“MI:0915”(physical association)0.560

BioGRID (52): PKNOX2 (Affinity Capture-MS), PKNOX2 (Affinity Capture-MS), PKNOX2 (Affinity Capture-MS), PKNOX2 (Affinity Capture-MS), PKNOX2 (Affinity Capture-MS), PKNOX2 (Affinity Capture-MS), PKNOX2 (Affinity Capture-RNA), PKNOX2 (Two-hybrid), PKNOX2 (Two-hybrid), PKNOX2 (Two-hybrid), PKNOX2 (Two-hybrid), PKNOX2 (Two-hybrid), PKNOX2 (Two-hybrid), PKNOX2 (Two-hybrid), PKNOX2 (Two-hybrid)

ESM2 similar proteins: A0A096MJY4, A0A8C0NGY6, A0A8I3PQN6, A1L1N5, A1ZAU8, A2BEA6, A2ICN5, A2VDZ3, A4IFD2, A4UTP7, D6C652, H2LBU8, O75030, O88368, P19484, P23899, P27889, P35680, P46936, P46937, P46938, P58462, Q02078, Q03365, Q03413, Q05041, Q06413, Q08874, Q1L8J7, Q2EJA0, Q2LE08, Q2MJT0, Q32NJ6, Q4VYR7, Q4VYS1, Q58NQ4, Q5R444, Q5R6L1, Q5RER5, Q5W1J5

Diamond homologs: A1YGI6, A6NDR6, A8K0S8, A8WL06, B7ZRT8, O00470, O04136, O14770, O22300, O42261, O46339, O65685, O70477, P41779, P41817, P46606, P48000, P48001, P48002, P48731, P53147, P54269, P55347, P56659, P56660, P56664, P56665, P56669, P70284, P78412, P78413, P78414, P78415, P79937, P81067, P81068, P97367, P97368, Q0E3C3, Q0J6N4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance49
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3166 predictions. Top by Δscore:

VariantEffectΔscore
11:125331926:G:GGdonor_gain1.0000
11:125351389:ACAGG:Adonor_loss1.0000
11:125351390:CAGGT:Cdonor_loss1.0000
11:125351393:G:GGdonor_gain1.0000
11:125351394:T:Adonor_loss1.0000
11:125367840:CTGCA:Cacceptor_loss1.0000
11:125367841:TGCAG:Tacceptor_loss1.0000
11:125367842:GCA:Gacceptor_loss1.0000
11:125367843:CAGA:Cacceptor_loss1.0000
11:125367844:A:AGacceptor_gain1.0000
11:125367844:A:Cacceptor_loss1.0000
11:125367845:G:GGacceptor_gain1.0000
11:125367845:GA:Gacceptor_gain1.0000
11:125367982:ACAGG:Adonor_loss1.0000
11:125367983:CAG:Cdonor_loss1.0000
11:125367984:AGG:Adonor_loss1.0000
11:125367985:GG:Gdonor_loss1.0000
11:125367987:T:Adonor_loss1.0000
11:125385719:TCTGG:Tdonor_loss1.0000
11:125385724:T:Cdonor_loss1.0000
11:125397871:CAGAT:Cacceptor_loss1.0000
11:125397872:A:AGacceptor_gain1.0000
11:125397872:A:Tacceptor_loss1.0000
11:125397872:AGAT:Aacceptor_gain1.0000
11:125397873:G:GGacceptor_gain1.0000
11:125397873:GA:Gacceptor_gain1.0000
11:125397873:GAT:Gacceptor_gain1.0000
11:125397873:GATG:Gacceptor_gain1.0000
11:125398005:G:GTdonor_gain1.0000
11:125398006:A:Tdonor_gain1.0000

AlphaMissense

3140 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
11:125367971:G:CK71N1.000
11:125367971:G:TK71N1.000
11:125367979:T:AV74E1.000
11:125385552:C:GH77D1.000
11:125385553:A:GH77R1.000
11:125385554:C:AH77Q1.000
11:125385554:C:GH77Q1.000
11:125385559:T:AL79H1.000
11:125385559:T:CL79P1.000
11:125385561:T:CF80L1.000
11:125385562:T:CF80S1.000
11:125385562:T:GF80C1.000
11:125385563:C:AF80L1.000
11:125385563:C:GF80L1.000
11:125385568:T:AL82H1.000
11:125385568:T:CL82P1.000
11:125385571:T:CL83P1.000
11:125385571:T:GL83R1.000
11:125385577:T:CL85P1.000
11:125385580:T:AL86Q1.000
11:125385580:T:CL86P1.000
11:125385580:T:GL86R1.000
11:125385591:T:CC90R1.000
11:125385592:G:AC90Y1.000
11:125385592:G:TC90F1.000
11:125385593:T:GC90W1.000
11:125385600:G:CA93P1.000
11:125385636:T:CF105L1.000
11:125385637:T:CF105S1.000
11:125385637:T:GF105C1.000

dbSNP variants (sampled 300 via entrez): RS1000001741 (11:125254965 G>A), RS1000003430 (11:125327860 G>A), RS1000005306 (11:125225496 G>A), RS1000025591 (11:125292415 C>T), RS1000031529 (11:125181333 T>C), RS1000034210 (11:125371975 T>C), RS1000057855 (11:125366843 A>T), RS1000058162 (11:125292687 G>T), RS1000071947 (11:125403431 G>C), RS1000085058 (11:125322218 G>A), RS1000088151 (11:125265242 G>A), RS1000097112 (11:125407001 A>C,G), RS1000101854 (11:125249143 T>C), RS1000107225 (11:125219754 T>C), RS1000112267 (11:125211549 A>C)

Disease associations

OMIM: gene MIM:613066 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

StudyTraitp-value
GCST000956_1Substance dependence7.000000e-08
GCST001121_2Alcohol dependence1.000000e-06
GCST001254_3Alcohol dependence8.000000e-06
GCST001471_6Alcohol and nicotine co-dependence2.000000e-06
GCST001549_1Formal thought disorder in schizophrenia4.000000e-07
GCST001565_12Schizophrenia7.000000e-07
GCST001762_6Obesity-related traits2.000000e-06
GCST002711_7Sleep duration5.000000e-06
GCST002775_7Alzheimer’s disease (survival time)8.000000e-06
GCST002861_2Breast cancer (survival)1.000000e-09
GCST003538_5Alcohol dependence symptom count2.000000e-06
GCST003992_4Photic sneeze reflex1.000000e-10
GCST004635_22Testicular germ cell tumor2.000000e-12
GCST004751_15Serum uric acid levels in response to allopurinol in gout4.000000e-06
GCST005359_19Disease progression in age-related macular degeneration5.000000e-06
GCST005759_8Dimensional psychopathology (Social)4.000000e-07
GCST006085_52Prostate cancer2.000000e-11
GCST006979_234Heel bone mineral density6.000000e-15
GCST011741_58LDL cholesterol levels in HIV infection9.000000e-06

EFO canonical traits (10, from GWAS)

EFO IDTrait name
EFO:0004805formal thought disorder
EFO:0004626IGFBP-3 measurement
EFO:0000714survival time
EFO:0007835alcohol dependence measurement
EFO:0007887autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0004761uric acid measurement
EFO:0008336disease progression measurement
EFO:0009100social domain measurement
EFO:0009270heel bone mineral density
EFO:0004611low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, decreases expression, increases expression4
mercuric bromideaffects cotreatment, decreases expression2
Panobinostataffects cotreatment, increases expression2
Benzo(a)pyreneincreases methylation, affects methylation2
p-Chloromercuribenzoic Acidaffects cotreatment, decreases expression2
methylmercuric chloridedecreases expression1
bisphenol Aaffects methylation1
2,5,2’,5’-tetrachlorobiphenyldecreases expression1
sodium arseniteincreases expression1
benzo(e)pyreneincreases methylation1
aflatoxin B2increases methylation1
4-aminophenylarsenoxideaffects binding, decreases reaction1
CGP 52608affects binding, increases reaction1
entinostatincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression, increases expression1
abrineincreases expression1
dorsomorphinincreases expression, affects cotreatment, decreases expression1
bisphenol Sdecreases methylation, affects cotreatment, increases methylation1
Resveratrolaffects cotreatment, decreases expression1
Arsenic Trioxideaffects binding, decreases reaction1
Fulvestrantaffects cotreatment, increases methylation1
Acetaminophenincreases expression1
Arsenicaffects methylation1
Calcitrioldecreases expression, affects cotreatment1
Doxorubicindecreases expression1
Methapyrileneincreases methylation1
Nickeldecreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Silicon Dioxideincreases expression1
Testosteroneaffects cotreatment, decreases expression1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_A5J8SEES3-1V human PKNOX2, clone1Embryonic stem cellMale
CVCL_A5J9SEES3-1V human PKNOX2, clone2Embryonic stem cellMale
CVCL_A5K0SEES3-1V human PKNOX2, clone3Embryonic stem cellMale

Clinical trials (associated diseases)

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

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
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 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_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot