Provide a comprehensive cross-database identifier and functional mapping reference for human JAK2. This should serve as a definitive lookup resource for researchers. ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 1: GENE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Provide ALL gene-level database identifiers: - HGNC ID and approved symbol - Ensembl gene ID (ENSG) - NCBI Entrez Gene ID - OMIM gene/locus ID - Genomic location: chromosome, start position, end position, strand ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 2: TRANSCRIPT IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL transcript-level identifiers: - Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.) How many total transcripts? - RefSeq transcripts: ALL NM_ mRNA accessions Mark which is MANE Select (canonical clinical standard) - CCDS IDs: ALL consensus coding sequence identifiers For the CANONICAL/MANE SELECT transcript: - List ALL exon IDs (ENSE) with genomic coordinates - Total exon count ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 3: PROTEIN IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL protein-level identifiers: - UniProt accessions: ALL entries (reviewed and unreviewed) Mark the canonical reviewed entry - RefSeq protein: ALL NP_ accessions Protein domains and families: - List ALL annotated domains/families with identifiers - Include: domain name, type (domain/family/superfamily), and ID ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 4: STRUCTURE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Experimental structures: - List ALL PDB structure IDs - For each: experimental method (X-ray, NMR, Cryo-EM) and resolution - Total PDB structure count Predicted structures: - AlphaFold model ID and confidence metrics (pLDDT) ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 5: CROSS-SPECIES ORTHOLOGS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List orthologous genes in key model organisms (where available): - Mouse (Mus musculus): gene ID, symbol - Rat (Rattus norvegicus): gene ID, symbol - Zebrafish (Danio rerio): gene ID, symbol - Fruit fly (Drosophila melanogaster): gene ID, symbol - Worm (C. elegans): gene ID, symbol - Yeast (S. cerevisiae): gene ID, symbol ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Clinical variant annotations: - Total variant count in clinical databases - Breakdown by classification: Pathogenic, Likely Pathogenic, Uncertain Significance (VUS), Likely Benign, Benign - List TOP 50 pathogenic/likely pathogenic variants with: variant ID, HGVS notation, associated condition AI-based variant effect predictions: - Splice effect predictions: Total count List TOP 50 predicted splice-altering variants with delta scores - Missense pathogenicity predictions: Total count List TOP 50 predicted pathogenic missense variants with scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Pathway membership: - List ALL biological pathways this gene participates in - Include pathway IDs and names - Total pathway count Gene Ontology annotations: - Biological Process: count and TOP 20 terms with IDs - Molecular Function: count and TOP 20 terms with IDs - Cellular Component: count and TOP 20 terms with IDs ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Protein-protein interactions: - Total interaction count - List TOP 50 highest-confidence interacting proteins with scores Protein similarity (evolutionary and structural): - Structural/embedding similarity: How many similar proteins? List TOP 20 with similarity scores - Sequence homology: How many homologous proteins? List TOP 20 with identity/similarity scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene encodes a transcription factor: Downstream targets (genes regulated BY this TF): - Total target gene count - List TOP 50 target genes with regulation type (activates/represses) DNA binding profiles: - List ALL known binding motif IDs - Motif family classification Upstream regulators (TFs that regulate THIS gene): - List known transcriptional regulators with evidence type ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 10: DRUG & PHARMACOLOGY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene/protein is a drug target: Targeting molecules: - How many drug/compound molecules target this protein? - List TOP 30 molecules by development phase - Include: molecule ID, name, mechanism, highest development phase Clinical trials: - How many clinical trials involve drugs targeting this gene? - List TOP 20 trials with: trial ID, phase, status, intervention Pharmacogenomics: - Known drug-gene interactions affecting drug response - Dosing guidelines if any exist ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 11: EXPRESSION PROFILES ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Tissue expression: - Which tissues express this gene most highly? - List TOP 30 tissues with expression scores/levels - Note any tissue-specific or tissue-enriched patterns Cell type expression: - Which cell types show highest expression? - List TOP 30 cell types with expression scores - Note any cell type-specific patterns Single-cell expression data (if available): - Which single-cell datasets/experiments include this gene? - Notable cell population patterns ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 12: DISEASE ASSOCIATIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Mendelian/monogenic disease links: - What diseases are caused by mutations in this gene? - List ALL associated diseases with: disease name, disease ID, inheritance pattern, evidence level Phenotype associations: - What clinical phenotypes are associated with this gene? - List TOP 50 phenotype terms with IDs Complex trait associations (GWAS): - What traits/diseases are linked via genome-wide association studies? - List TOP 30 GWAS associations with: trait, study ID, p-value, effect size if available ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ FORMATTING REQUIREMENTS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ - Present each section with clear headers - Use tables for listing multiple items - Always include COUNTS for every category - For lists with 50 items: show total count + TOP 50 - For lists with

Question

Provide a comprehensive cross-database identifier and functional mapping
reference for human JAK2. This should serve as a definitive
lookup resource for researchers.

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 1: GENE IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Provide ALL gene-level database identifiers:
- HGNC ID and approved symbol
- Ensembl gene ID (ENSG)
- NCBI Entrez Gene ID
- OMIM gene/locus ID
- Genomic location: chromosome, start position, end position, strand

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 2: TRANSCRIPT IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List ALL transcript-level identifiers:
- Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.)
  How many total transcripts?
- RefSeq transcripts: ALL NM_ mRNA accessions
  Mark which is MANE Select (canonical clinical standard)
- CCDS IDs: ALL consensus coding sequence identifiers

For the CANONICAL/MANE SELECT transcript:
- List ALL exon IDs (ENSE) with genomic coordinates
- Total exon count

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 3: PROTEIN IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List ALL protein-level identifiers:
- UniProt accessions: ALL entries (reviewed and unreviewed)
  Mark the canonical reviewed entry
- RefSeq protein: ALL NP_ accessions

Protein domains and families:
- List ALL annotated domains/families with identifiers
- Include: domain name, type (domain/family/superfamily), and ID

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 4: STRUCTURE IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Experimental structures:
- List ALL PDB structure IDs
- For each: experimental method (X-ray, NMR, Cryo-EM) and resolution
- Total PDB structure count

Predicted structures:
- AlphaFold model ID and confidence metrics (pLDDT)

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 5: CROSS-SPECIES ORTHOLOGS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List orthologous genes in key model organisms (where available):
- Mouse (Mus musculus): gene ID, symbol
- Rat (Rattus norvegicus): gene ID, symbol
- Zebrafish (Danio rerio): gene ID, symbol
- Fruit fly (Drosophila melanogaster): gene ID, symbol
- Worm (C. elegans): gene ID, symbol
- Yeast (S. cerevisiae): gene ID, symbol

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Clinical variant annotations:
- Total variant count in clinical databases
- Breakdown by classification: Pathogenic, Likely Pathogenic,
  Uncertain Significance (VUS), Likely Benign, Benign
- List TOP 50 pathogenic/likely pathogenic variants with:
  variant ID, HGVS notation, associated condition

AI-based variant effect predictions:
- Splice effect predictions: Total count
  List TOP 50 predicted splice-altering variants with delta scores
- Missense pathogenicity predictions: Total count
  List TOP 50 predicted pathogenic missense variants with scores

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Pathway membership:
- List ALL biological pathways this gene participates in
- Include pathway IDs and names
- Total pathway count

Gene Ontology annotations:
- Biological Process: count and TOP 20 terms with IDs
- Molecular Function: count and TOP 20 terms with IDs
- Cellular Component: count and TOP 20 terms with IDs

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Protein-protein interactions:
- Total interaction count
- List TOP 50 highest-confidence interacting proteins with scores

Protein similarity (evolutionary and structural):
- Structural/embedding similarity: How many similar proteins?
  List TOP 20 with similarity scores
- Sequence homology: How many homologous proteins?
  List TOP 20 with identity/similarity scores

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
If this gene encodes a transcription factor:

Downstream targets (genes regulated BY this TF):
- Total target gene count
- List TOP 50 target genes with regulation type (activates/represses)

DNA binding profiles:
- List ALL known binding motif IDs
- Motif family classification

Upstream regulators (TFs that regulate THIS gene):
- List known transcriptional regulators with evidence type

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 10: DRUG & PHARMACOLOGY DATA
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
If this gene/protein is a drug target:

Targeting molecules:
- How many drug/compound molecules target this protein?
- List TOP 30 molecules by development phase
- Include: molecule ID, name, mechanism, highest development phase

Clinical trials:
- How many clinical trials involve drugs targeting this gene?
- List TOP 20 trials with: trial ID, phase, status, intervention

Pharmacogenomics:
- Known drug-gene interactions affecting drug response
- Dosing guidelines if any exist

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 11: EXPRESSION PROFILES
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Tissue expression:
- Which tissues express this gene most highly?
- List TOP 30 tissues with expression scores/levels
- Note any tissue-specific or tissue-enriched patterns

Cell type expression:
- Which cell types show highest expression?
- List TOP 30 cell types with expression scores
- Note any cell type-specific patterns

Single-cell expression data (if available):
- Which single-cell datasets/experiments include this gene?
- Notable cell population patterns

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 12: DISEASE ASSOCIATIONS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Mendelian/monogenic disease links:
- What diseases are caused by mutations in this gene?
- List ALL associated diseases with: disease name, disease ID,
  inheritance pattern, evidence level

Phenotype associations:
- What clinical phenotypes are associated with this gene?
- List TOP 50 phenotype terms with IDs

Complex trait associations (GWAS):
- What traits/diseases are linked via genome-wide association studies?
- List TOP 30 GWAS associations with: trait, study ID, p-value,
  effect size if available

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
FORMATTING REQUIREMENTS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
- Present each section with clear headers
- Use tables for listing multiple items
- Always include COUNTS for every category
- For lists with >50 items: show total count + TOP 50
- For lists with <50 items: show ALL items
- Always include database identifiers (IDs), not just names
- Mark canonical/primary/reviewed entries where applicable
- If a section has no data available, state "No data available"
  rather than omitting the section

Accepted Answer

COMPREHENSIVE CROSS-DATABASE IDENTIFIER AND FUNCTIONAL MAPPING REFERENCE HUMAN JAK2 (Janus Kinase 2)
Section 1: Gene Identifiers Primary Gene Identifiers
DatabaseIdentifierNotes HGNC IDHGNC:6192Approved symbol HGNC SymbolJAK2Official gene symbol HGNC NameJanus kinase 2Full approved name Ensembl GeneENSG00000096968Human Ensembl gene ID NCBI Entrez Gene3717NCBI Gene ID OMIM147796Gene/locus entry PharmGKB GenePA29989VIP gene (Very Important Pharmacogene) Genomic Location AttributeValue Chromosome9 …

Attribute	Value
Chromosome	9
Cytogenetic Band	9p24.1
Start Position (GRCh38)	4,984,390
End Position (GRCh38)	5,129,948
Strand	+ (forward/positive)
Gene Length	145,558 bp
Biotype	protein_coding

- Locus Group	- Locus Type	- Status	- Aliases	- Gene Groups
protein-coding gene	gene with protein product	Approved	JTK10	SH2 domain containing, FERM domain containing, Jak family tyrosine kinases
					Transcript Identifiers**

Transcript ID	Biotype	Start	End	Strand
ENST00000381652	protein_coding	4,985,272	5,129,948	+
ENST00000476574	protein_coding	4,985,033	5,022,065	+
ENST00000487310	protein_coding_CDS_not_defined	5,125,965	5,126,974	+
ENST00000636127	protein_coding	4,984,390	5,078,444	+
ENST00000870320	protein_coding	4,984,825	5,128,092	+
ENST00000870321	protein_coding	4,984,942	5,128,183	+
ENST00000870322	protein_coding	4,985,090	5,128,183	+
ENST00000870323	protein_coding	4,984,590	5,127,506	+
ENST00000870324	protein_coding	4,985,276	5,128,002	+
ENST00000870325	protein_coding	4,985,254	5,127,517	+
ENST00000963937	protein_coding	4,985,240	5,129,940	+
ENST00000963938	protein_coding	4,984,539	5,127,513	+
ENST00000963939	protein_coding	4,984,930	5,127,323	+
ENST00000963940	protein_coding	4,984,994	5,127,324	+
ENST00000963941	protein_coding	4,985,755	5,127,495	+

RefSeq ID	Status	MANE Select
NM_004972	REVIEWED	✓ Yes (Canonical)
NM_001322194	REVIEWED	No
NM_001322195	REVIEWED	No
NM_001322196	REVIEWED	No
NM_001322198	REVIEWED	No
NM_001322199	REVIEWED	No
NM_001322204	REVIEWED	No

Exon ID	Start	End	Length
ENSE00001489462	4,985,272	4,985,630	358 bp
ENSE00001489459	4,985,940	4,986,022	82 bp
ENSE00001489453	5,021,963	5,022,213	250 bp
ENSE00000687814	5,029,783	5,029,906	123 bp
ENSE00003505962	5,044,403	5,044,520	117 bp
ENSE00003342058	5,050,686	5,050,831	145 bp
ENSE00000687923	5,054,563	5,054,884	321 bp
ENSE00000687929	5,055,669	5,055,788	119 bp
ENSE00001282918	5,064,883	5,065,040	157 bp
ENSE00001282909	5,066,678	5,066,789	111 bp
ENSE00000687945	5,069,022	5,069,208	186 bp
ENSE00001282899	5,069,925	5,070,052	127 bp
ENSE00000687951	5,072,492	5,072,626	134 bp
ENSE00001282890	5,073,698	5,073,785	87 bp
ENSE00001282885	5,077,453	5,077,580	127 bp
ENSE00000687968	5,078,306	5,078,444	138 bp
ENSE00000687973	5,080,229	5,080,380	151 bp
ENSE00001282875	5,080,533	5,080,683	150 bp
ENSE00001282867	5,081,725	5,081,861	136 bp
ENSE00000688013	5,089,674	5,089,863	189 bp
ENSE00000688019	5,090,446	5,090,570	124 bp
ENSE00001282842	5,090,739	5,090,911	172 bp
ENSE00001282833	5,123,004	5,123,121	117 bp
ENSE00001282826	5,126,333	5,126,446	113 bp
ENSE00001489355	5,126,684	5,129,948	3,264 bp

JAK2 Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Notes
HGNC ID	HGNC:6192	Approved symbol
HGNC Symbol	JAK2	Official gene symbol
HGNC Name	Janus kinase 2	Full approved name
Ensembl Gene	ENSG00000096968	Human Ensembl gene ID
NCBI Entrez Gene	3717	NCBI Gene ID
OMIM	147796	Gene/locus entry
PharmGKB Gene	PA29989	VIP gene (Very Important Pharmacogene)

RefSeq Protein	Status	MANE Select
NP_004963	REVIEWED	✓ Yes (Canonical)
NP_001309123	REVIEWED	No
NP_001309124	REVIEWED	No
NP_001309125	REVIEWED	No
NP_001309127	REVIEWED	No
NP_001309128	REVIEWED	No
NP_001309133	REVIEWED	No

InterPro ID	Short Name	Type
IPR000299	FERM_domain	Domain
IPR000719	Prot_kinase_dom	Domain
IPR000980	SH2	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR008266	Tyr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR016251	Tyr_kinase_non-rcpt_Jak/Tyk2	Family
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR019748	FERM_central	Domain
IPR019749	Band_41_domain	Domain
IPR020635	Tyr_kinase_cat_dom	Domain
IPR020693	Tyr_kinase_non-rcpt_Jak2	Family
IPR035588	PTK_Jak2_rpt1	Domain
IPR035589	PTKc_Jak2_rpt2	Domain
IPR035860	JAK2_SH2	Domain
IPR035963	FERM_2	Homologous_superfamily
IPR036860	SH2_dom_sf	Homologous_superfamily
IPR037838	JAK2_FERM_C-lobe	Domain
IPR041046	FERM_F2	Domain
IPR041155	FERM_F1	Domain
IPR041381	JAK1-3/TYK2_PHL_dom	Domain
IPR051286	JAK	Family

PDB ID	Resolution (Å)	Description
8BXH	1.30	JAK2 JH1 + momelotinib
7LL4	1.31	JAK2 JH1 + PN5-114
3UGC	1.34	JAK2 + NVP-BBT594 (type II)
7REE	1.38	JAK2 JH1 + YM2-059
8BA3	1.40	JAK2 JH2 + Bemcentinib
8BX9	1.40	JAK2 JH1 + ilginatinib
7TEU	1.45	JAK2 JH1 + YLIU-04-105-1
4IVA	1.50	JAK2 JH1 + inhibitor
7LL5	1.50	JAK2 JH1 + PN5-150
7RN6	1.50	JAK2 JH1 + BBT594
8B8U	1.50	JAK2 JH2-V617F + HTS-A3
8B9E	1.50	JAK2 JH2-V617F + Z902-A3
8B9H	1.50	JAK2 JH2 + Z902-A3
8BA2	1.50	JAK2 JH2-V617F + Z902-A1
8BM2	1.50	JAK2 JH1 + gandotinib
8BX6	1.50	JAK2 JH1 + cerdulatinib
8EX1	1.50	JAK2 JH2 + Reversine
5I4N	1.54	JAK2 JH2 E596A V617F + Mg-ATP
5UT3	1.50	JAK2 JH2 + IKK-2 Inhibitor VI
6BS0	1.54	JAK2 JH2 + 63552444
7Q7K	1.61	JAK2 + quinazolin derivative
9ND3	1.62	JAK2 JH2 + diaminotriazole
8BAK	1.65	JAK2 JH2-V617F + Reversine
4D1S	1.66	Pyrrole-3-carboxamide inhibitor
8BPV	1.70	JAK2 JH1 + pacritinib
6OBF	1.71	JAK2 JH2 + JAK179
6WTO	1.74	JAK2 JH1 + baricitinib
4FVQ	1.75	JAK2 JH2 + Mg-ATP
6X8E	1.75	JAK2 + Compound 11
5UT2	1.75	JAK2 JH2 + PRT062607
4D0X	1.82	Pyrrole-3-carboxamide
6WTN	1.83	JAK2 JH1 + ruxolitinib
7F7W	1.83	JAK2-JH2
7Q7I	1.78	JAK2 + quinazolin derivative
4D0W	1.77	Pyrrole-3-carboxamide
8BPW	1.80	JAK2 JH1 + lestaurtinib
3E64	1.80	Fragment-based JAK2 inhibitor
3KRR	1.80	JAK2 + quinoxaline inhibitor
6BBV	1.80	JAK2 + compound 25
5WEV	1.85	JAK2 + imidazopyridine
4JIA	1.85	JAK2 JH1 + compound 9
7JYQ	1.86	JAK2 JH2 + JAK020
8BXC	1.90	JAK2 JH1 + itacitinib
6VGL	1.90	JAK2 JH1 + ruxolitinib
6VN8	1.90	JAK2 JH1 + baricitinib
6VNJ	1.90	JAK2 JH1 + PN4-014
3E63	1.90	Fragment-based JAK2 inhibitor
4AQC	1.90	Triazolopyridine inhibitor
4BBE	1.90	Aminoalkylpyrimidine inhibitor
8C09	1.90	JAK2 JH2-I559F

PDB ID	Drug	Resolution
6VGL, 6WTN	Ruxolitinib	1.9Å, 1.83Å
6VN8, 6WTO	Baricitinib	1.9Å, 1.74Å
6VNE	Fedratinib	2.32Å
8BXH	Momelotinib	1.3Å
8BPV	Pacritinib	1.7Å
6AAJ	Peficitinib	2.37Å

Attribute	Value
AlphaFold ID	AF-O60674-F1
Global pLDDT	87.46
Sequence Length	9,192 (model)
Fraction Very High Confidence	68%

Organism	Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000024789	Jak2	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000059968	Jak2	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000018882	jak2b	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000104808	jak2a	protein_coding
Fruit fly (Drosophila)	No direct ortholog	-	JAK/STAT pathway: hop (hopscotch)
Worm (C. elegans)	No direct ortholog	-	-
Yeast (S. cerevisiae)	No ortholog	-	-

Paralogs in Human (32 total)
JAK1, JAK3, TYK2, and other tyrosine kinases
	Clinical Variants & AI Predictions**

Classification	Count
Likely Pathogenic	1
Uncertain Significance (VUS)	18
Likely Benign	6
Benign	2
Conflicting	2
No classification	4

ClinVar ID	HGVS Notation	Review Status
367116	c.-138C>T	criteria provided
376706	c.1691G>T (p.Arg564Leu)	multiple submitters
1337852	c.995A>G (p.Asn332Ser)	multiple submitters
2397682	c.1936A>C (p.Asn646His)	multiple submitters
2637003	c.1407G>T (p.Lys469Asn)	multiple submitters
2748717	c.397C>T (p.Arg133Trp)	multiple submitters
3899461	c.1684G>A (p.Gly562Ser)	criteria provided

Database	Identifier
CCDS	CCDS6457
VEGA	Available
COSMIC	JAK2

Variant ID	Protein Change	Pathogenicity Score
9:5029839:T:A	W95R	0.998
9:5029839:T:C	W95R	0.998
9:5022199:C:A	A71D	0.992
9:5029812:G:C	A86P	0.990
9:5029816:T:C	L87S	0.989
9:5029809:T:C	F85L	0.986
9:5029811:T:A	F85L	0.986
9:5029811:T:G	F85L	0.986
9:5022109:T:A	V41E	0.982
9:5022198:G:C	A71P	0.977
9:5029813:C:A	A86D	0.977
9:5029810:T:C	F85S	0.973
9:5029841:G:C	W95C	0.970
9:5029841:G:T	W95C	0.970
9:5022191:T:G	C68W	0.969
9:5022103:T:C	L39P	0.963
9:5029840:G:C	W95S	0.962
9:5029839:T:G	W95G	0.956
9:5029840:G:T	W95L	0.951
9:5022177:G:C	A64P	0.951
9:5022189:T:C	C68R	0.949
9:5029842:T:G	Y96D	0.947
9:5022187:T:A	I67N	0.943
9:5022187:T:G	I67S	0.936
9:5029809:T:A	F85I	0.935
9:5029786:T:G	I77S	0.934
9:5022103:T:A	L39H	0.929
9:5022201:T:C	S72P	0.929
9:5022117:T:G	Y44D	0.925
9:5029810:T:G	F85C	0.922
9:5022103:T:G	L39R	0.920
9:5022181:A:T	E65V	0.914
9:5029792:C:A	P79H	0.914
9:5022190:G:A	C68Y	0.912
9:5029786:T:A	I77N	0.905
9:5029786:T:C	I77T	0.905
9:5022157:T:C	F57S	0.904
9:5022210:T:C	C75R	0.898
9:5022212:T:G	C75W	0.897
9:5029809:T:G	F85V	0.890

Variant ID	Effect	Delta Score
9:4985465:GGGAT:G	donor_gain	0.99
9:4985466:GGATG:G	donor_gain	0.99
9:4985467:G:T	donor_gain	0.99
9:4985466:GGAT:G	donor_gain	0.98
9:4985467:GATG:G	donor_gain	0.98
9:4985470:G:GG	donor_gain	0.97
9:4985440:G:GT	donor_gain	0.96
9:4985322:GC:G	donor_gain	0.96
9:4985467:GAT:G	donor_gain	0.94
9:4985523:T:TA	donor_gain	0.93
9:4985262:G:GT	donor_gain	0.90
9:4985382:C:A	donor_gain	0.90
9:4985381:T:TA	donor_gain	0.89
9:4985277:G:GT	donor_gain	0.88
9:4985349:TGTTC:T	donor_gain	0.86
9:4985350:GTTCG:G	donor_gain	0.86
9:4985481:C:G	donor_gain	0.85
9:4985519:G:GT	donor_gain	0.84
9:4985296:C:G	donor_gain	0.81
9:4985441:G:T	donor_gain	0.81
9:4985323:C:T	donor_gain	0.75
9:4985289:G:GT	donor_gain	0.72
9:4985251:G:GT	donor_gain	0.67
9:4985442:A:T	donor_gain	0.64
9:4985524:C:CA	donor_gain	0.62
9:4985378:C:A	donor_gain	0.61
9:4985351:TTCGC:T	donor_gain	0.61
9:4985467:GATGT:G	donor_loss	0.60
9:4985468:ATGTG:A	donor_loss	0.60
9:4985469:TG:T	donor_loss	0.60
9:4985470:GTGA:G	donor_loss	0.60
9:4985471:T:G	donor_loss	0.60

Pathway ID	Pathway Name	Disease?
R-HSA-9006335	Signaling by Erythropoietin	No
R-HSA-9027283	Erythropoietin activates STAT5	No
R-HSA-9027284	Erythropoietin activates RAS	No
R-HSA-9027276	Erythropoietin activates PI3K	No
R-HSA-9027277	Erythropoietin activates PLCG	No
R-HSA-877300	Interferon gamma signaling	No
R-HSA-877312	Regulation of IFNG signaling	No
R-HSA-9732724	IFNG signaling activates MAPKs	No
R-HSA-1059683	Interleukin-6 signaling	No
R-HSA-6788467	IL-6-type cytokine receptor ligand interactions	No
R-HSA-512988	Interleukin-3, Interleukin-5 and GM-CSF signaling	No
R-HSA-6785807	Interleukin-4 and Interleukin-13 signaling	No
R-HSA-9020591	Interleukin-12 signaling	No
R-HSA-8854691	Interleukin-20 family signaling	No
R-HSA-9020933	Interleukin-23 signaling	No
R-HSA-9020956	Interleukin-27 signaling	No
R-HSA-8984722	Interleukin-35 Signalling	No
R-HSA-982772	Growth hormone receptor signaling	No
R-HSA-1170546	Prolactin receptor signaling	No
R-HSA-2586552	Signaling by Leptin	No
R-HSA-9674555	Signaling by CSF3 (G-CSF)	No
R-HSA-9705462	Inactivation of CSF3 (G-CSF) signaling	No
R-HSA-1433557	Signaling by SCF-KIT	No
R-HSA-912526	Interleukin receptor SHC signaling	No
R-HSA-69231	Cyclin D associated events in G1	No
R-HSA-110056	MAPK3 (ERK1) activation	No
R-HSA-112411	MAPK1 (ERK2) activation	No
R-HSA-5673000	RAF activation	No
R-HSA-5673001	RAF/MAP kinase cascade	No
R-HSA-3214858	RMTs methylate histone arginines	No
R-HSA-983231	Factors involved in megakaryocyte development	No
R-HSA-6802946	Signaling by moderate kinase activity BRAF mutants	Yes
R-HSA-6802952	Signaling by BRAF and RAF1 fusions	Yes
R-HSA-6802955	Paradoxical activation of RAF signaling	Yes
R-HSA-9649948	Signaling downstream of RAS mutants	Yes
R-HSA-9656223	Signaling by RAF1 mutants	Yes
R-HSA-9670439	Signaling by KIT mutants	Yes
R-HSA-9679191	Potential therapeutics for SARS	Yes

GO ID	Term
GO:0004672	protein kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0004715	non-membrane spanning protein tyrosine kinase activity
GO:0005102	signaling receptor binding
GO:0005131	growth hormone receptor binding
GO:0005143	interleukin-12 receptor binding
GO:0005524	ATP binding
GO:0019901	protein kinase binding
GO:0020037	heme binding
GO:0030546	signaling receptor activator activity
GO:0031702	type 1 angiotensin receptor binding
GO:0033130	acetylcholine receptor binding
GO:0035401	histone H3Y41 kinase activity
GO:0042169	SH2 domain binding
GO:0042393	histone binding
GO:0042802	identical protein binding
GO:0043548	phosphatidylinositol 3-kinase binding
GO:0043560	insulin receptor substrate binding
GO:0046872	metal ion binding
GO:0051428	peptide hormone receptor binding

GO ID	Term
GO:0007259	cell surface receptor signaling pathway via JAK-STAT
GO:0019221	cytokine-mediated signaling pathway
GO:0038162	erythropoietin-mediated signaling pathway
GO:0038163	thrombopoietin-mediated signaling pathway
GO:0060396	growth hormone receptor signaling pathway
GO:0060397	growth hormone receptor signaling via JAK-STAT
GO:0070102	interleukin-6-mediated signaling pathway
GO:0035722	interleukin-12-mediated signaling pathway
GO:0038155	interleukin-23-mediated signaling pathway
GO:0060333	type II interferon-mediated signaling pathway
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein
GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT
GO:0042976	activation of Janus kinase activity
GO:0030218	erythrocyte differentiation
GO:0007165	signal transduction
GO:0035556	intracellular signal transduction
GO:0006955	immune response
GO:0002250	adaptive immune response
GO:0046777	protein autophosphorylation
GO:0043410	positive regulation of MAPK cascade

GO ID	Term
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005901	caveola
GO:0005925	focal adhesion
GO:0009898	cytoplasmic side of plasma membrane
GO:0019897	extrinsic component of plasma membrane
GO:0030526	granulocyte macrophage colony-stimulating factor receptor complex
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane
GO:0031904	endosome lumen
GO:0042022	interleukin-12 receptor complex
GO:0045121	membrane raft
GO:0072536	interleukin-23 receptor complex
GO:0098794	postsynapse
GO:0098978	glutamatergic synapse
GO:0000785	chromatin
GO:0000791	euchromatin

UniProt ID	Gene	Score	Description
P40763	STAT3	999	Signal transducer and activator of transcription 3
O60674	JAK2	999	Self-interaction (homodimerization)
P19235	EPOR	997	Erythropoietin receptor
P42229	STAT5A	997	Signal transducer and activator of transcription 5A
P51692	STAT5B	997	Signal transducer and activator of transcription 5B
O14543	SOCS3	996	Suppressor of cytokine signaling 3
P42224	STAT1	996	Signal transducer and activator of transcription 1
P38484	IFG2R	995	Interferon gamma receptor 2
O15524	SOCS1	994	Suppressor of cytokine signaling 1
P15260	IFNGR1	993	Interferon gamma receptor 1
P01579	IFNG	989	Interferon gamma
P42701	IL12RB1	988	Interleukin-12 receptor subunit beta-1
P10912	GHR	985	Growth hormone receptor
Q99665	IL12RB2	983	Interleukin-12 receptor subunit beta-2
P23458	JAK1	982	Tyrosine-protein kinase JAK1
P29597	TYK2	982	Non-receptor tyrosine-protein kinase TYK2
P78552	IL13RA1	979	Interleukin-13 receptor subunit alpha-1
Q9UQQ2	SH2B3	976	SH2B adapter protein 3 (LNK)
P01588	EPO	974	Erythropoietin
P09919	CSF3	968	Granulocyte colony-stimulating factor
P05231	IL6	953	Interleukin-6
Q5VWK5	IL23R	953	Interleukin-23 receptor
Q9NSE2	CISH	949	Cytokine-inducible SH2-containing protein
Q06124	PTPN11	947	Tyrosine-protein phosphatase non-receptor type 11 (SHP2)
P08700	IL3	941	Interleukin-3
Q9HC73	CRLF2	941	Cytokine receptor-like factor 2
P29354	SRC	937	Proto-oncogene tyrosine-protein kinase Src
P41159	LEP	936	Leptin
Q9NRF2	SOCS7	932	Suppressor of cytokine signaling 7
P16471	PRLR	919	Prolactin receptor
P40225	TPO	919	Thrombopoietin
P40189	IL6ST	916	Interleukin-6 receptor subunit beta (gp130)
Q6N021	SOCS4	906	Suppressor of cytokine signaling 4
P35568	IRS1	904	Insulin receptor substrate 1
P40238	MPL	904	Thrombopoietin receptor
P48357	LEPR	904	Leptin receptor
Q99062	CSF2RB	888	Cytokine receptor common subunit beta
P42226	STAT6	883	Signal transducer and activator of transcription 6
Q8IXJ9	SOCS5	873	Suppressor of cytokine signaling 5
P52630	STAT2	871	Signal transducer and activator of transcription 2
P01236	PRL	868	Prolactin
P29353	SHC1	859	SHC-transforming protein 1
P04141	CSF2	851	Granulocyte-macrophage colony-stimulating factor
P18031	PTPN1	849	Tyrosine-protein phosphatase non-receptor type 1 (PTP1B)
P22301	IL10	833	Interleukin-10
P01343	GH	826	Growth hormone
P05113	IL5	823	Interleukin-5
P42702	LIFR	813	Leukemia inhibitory factor receptor
P12931	SRC	809	Proto-oncogene tyrosine-protein kinase Src
P41212	ETV6	800	Transcription factor ETV6

Interactor	Method
STAT3	Biochemical Activity, Affinity Capture-Western
STAT5A	Two-hybrid, Reconstituted Complex
STAT5B	Two-hybrid
SOCS1	Two-hybrid, Affinity Capture-Western, Reconstituted Complex
SOCS3	Two-hybrid, Affinity Capture-Western, Reconstituted Complex
EPOR	Affinity Capture-Western
IL12RB2	Affinity Capture-Western
PIK3R1	Negative Genetic, Affinity Capture-Western, Reconstituted Complex
CBL	Affinity Capture-Western, Co-localization, Reconstituted Complex
EGFR	Biochemical Activity, Affinity Capture-Western
SH2B1	Affinity Capture-Western
SH2B2	Biochemical Activity
IRS1	Affinity Capture-Western, Biochemical Activity
PTPN11	Biochemical Activity, Reconstituted Complex
PTPN6	Affinity Capture-Western
PTPN12	Affinity Capture-Western
VAV1	Affinity Capture-Western, Biochemical Activity
GRB2	Affinity Capture-Western
CSF2RB	Reconstituted Complex

UniProt ID	Gene	Top Similarity	Avg Similarity
O60674	JAK2	1.000	0.990
P23458	JAK1	0.9999	0.989
P52332	JAK3	0.9999	0.989
O60880	SH2 domain-containing protein 1A	1.000	0.975
Q13418	Integrin-linked protein kinase	1.000	0.985
P29597	TYK2	0.9998	0.991

UniProt ID	Gene	Identity (%)	Bitscore
O60674	JAK2 (human)	99.7%	2316
Q5RB23	JAK2 (macaque)	99.7%	2315
Q62689	Jak2 (rat)	98.1%	2284
Q62120	Jak2 (mouse)	98.1%	2279
O19064	JAK2 (bovine)	95.3%	2239
P23458	JAK1 (human)	93.7%	2192
P52332	JAK3 (human)	93.7%	2181
Q62137	Jak1 (mouse)	94.3%	2124
Q63272	Jak1 (rat)	94.3%	2127
Q75R65	JAK2 (rabbit)	88.1%	2064
Q09178	JAK2 (chicken)	86.8%	2028
O12990	JAK2 (zebrafish)	86.8%	2028
P29597	TYK2 (human)	79.8%	1921
Q9R117	Tyk2 (mouse)	79.8%	1917
P52333	JAK3 (mouse)	83.7%	1868

TF Gene	Regulation Type	Confidence
STAT5A	Unknown	High
STAT5B	Unknown	High
TXK	Unknown	High
YY1	Unknown	High
STAT1	Activation	Low
STAT3	Activation	-
DENR	Activation	-
AR	Unknown	Low
BRCA1	Unknown	-
DNMT1	Unknown	Low
ESR1	Unknown	-
LMO2	Unknown	Low
SPI1	Unknown	Low
TCF3	Unknown	Low
THAP11	Unknown	Low
TP53	Unknown	-

Target ID	Type	Description
CHEMBL2971	SINGLE PROTEIN	Tyrosine-protein kinase JAK2
CHEMBL2363062	PROTEIN FAMILY	Janus Kinase (JAK)
CHEMBL3038492	PROTEIN COMPLEX	JAK2/JAK1
CHEMBL3301390	PROTEIN COMPLEX	JAK1/JAK2/TYK2
CHEMBL3301392	PROTEIN COMPLEX	JAK2/TYK2
CHEMBL4802035	PROTEIN FAMILY	JAK2/JAK3
CHEMBL5482983	PROTEIN COMPLEX	JAK2-STAT3
CHEMBL4630750	PPI	E3 ubiquitin-protein ligase XIAP/JAK2
CHEMBL4742263	PPI	Protein cereblon/JAK2

ChEMBL ID	Drug Name	Mechanism
CHEMBL1789941	RUXOLITINIB	JAK1/JAK2 inhibitor
CHEMBL1795071	RUXOLITINIB PHOSPHATE	JAK1/JAK2 inhibitor
CHEMBL1287853	FEDRATINIB	JAK2 inhibitor
CHEMBL2035187	PACRITINIB	JAK2/FLT3 inhibitor
CHEMBL1078178	MOMELOTINIB	JAK1/JAK2 inhibitor
CHEMBL2105759	BARICITINIB	JAK1/JAK2 inhibitor
CHEMBL221959	TOFACITINIB	Pan-JAK inhibitor
CHEMBL2103743	TOFACITINIB CITRATE	Pan-JAK inhibitor
CHEMBL3301607	FILGOTINIB	JAK1 selective
CHEMBL3622821	UPADACITINIB	JAK1 selective
CHEMBL3655081	ABROCITINIB	JAK1 selective
CHEMBL3137308	PEFICITINIB	Pan-JAK inhibitor
CHEMBL4435170	DEUCRAVACITINIB	TYK2 selective
CHEMBL4596392	CRAVACITINIB	JAK inhibitor
CHEMBL1171837	PONATINIB	Multi-kinase inhibitor
CHEMBL1289926	AXITINIB	Multi-kinase inhibitor
CHEMBL288441	BOSUTINIB	Multi-kinase inhibitor
CHEMBL535	SUNITINIB	Multi-kinase inhibitor
CHEMBL553	ERLOTINIB	Multi-kinase inhibitor
CHEMBL601719	CRIZOTINIB	Multi-kinase inhibitor
CHEMBL477772	PAZOPANIB	Multi-kinase inhibitor
CHEMBL502835	NINTEDANIB	Multi-kinase inhibitor
CHEMBL2028663	DABRAFENIB	Multi-kinase inhibitor
CHEMBL2403108	CERITINIB	Multi-kinase inhibitor
CHEMBL3286830	LORLATINIB	Multi-kinase inhibitor
CHEMBL3545311	BRIGATINIB	Multi-kinase inhibitor
CHEMBL1983268	ENTRECTINIB	Multi-kinase inhibitor
CHEMBL4298138	REPOTRECTINIB	Multi-kinase inhibitor
CHEMBL4582651	PRALSETINIB	Multi-kinase inhibitor
CHEMBL608533	MIDOSTAURIN	Multi-kinase inhibitor

ChEMBL ID	Drug Name
CHEMBL3622820	ITACITINIB
CHEMBL4297477	BREPOCITINIB
CHEMBL4297507	DELGOCITINIB
CHEMBL4297865	ABIVERTINIB
CHEMBL5095079	POVORCITINIB
CHEMBL5095398	IVARMACITINIB
CHEMBL3137331	DEFACTINIB
CHEMBL3265032	ENTOSPLETINIB
CHEMBL428690	ALVOCIDIB
CHEMBL522892	DOVITINIB
CHEMBL603469	LESTAURTINIB

Attribute	Value
PharmGKB ID	PA29989
VIP Gene	Yes (Very Important Pharmacogene)
Has Variant Annotations	Yes
CPIC Guideline	No

Attribute	Value
Expression Breadth	Ubiquitous
Total Present Calls	272
Maximum Expression Score	97.19

Tissue	Expression Score	Quality
Calcaneal tendon	97.19	Gold
Monocyte	95.57	Gold
Blood vessel layer	94.99	Gold
Mononuclear cell	94.89	Gold
Popliteal artery	94.48	Gold
Tibial artery	94.46	Gold
Leukocyte	94.32	Gold
Aorta	92.96	Gold
Gluteal muscle	92.86	Gold
Descending thoracic aorta	92.19	Gold
Thoracic aorta	91.14	Gold
Ascending aorta	90.99	Gold
Sural nerve	90.43	Gold
Tibia	89.72	Gold
Left coronary artery	89.40	Gold
Skeletal muscle tissue of rectus abdominis	89.12	Gold
Right coronary artery	87.93	Gold
Coronary artery	87.70	Gold
Bone marrow cell	87.64	Gold
Tendon	86.88	Gold
Cartilage tissue	86.61	Gold
Superficial temporal artery	86.60	Gold
Right lung	86.52	Gold
Diaphragm	86.09	Gold
Biceps brachii	85.65	Gold
Bone marrow	85.35	Gold
Skin of leg	85.15	Gold
Ectocervix	84.92	Gold
Vermiform appendix	84.88	Gold
Subcutaneous adipose tissue	84.88	Gold

- Hematopoietic System	- Vascular System	- Musculoskeletal	- Ubiquitous
Highest expression in monocytes, leukocytes, bone marrow cells	High expression in arteries (aorta, coronary, tibial)	Present in skeletal muscle, tendons, cartilage	Detected in 272 different anatomical structures
				Disease Associations**

Disease	Classification	Inheritance	Source
Thrombocythemia 3 (OMIM:614521)	Strong	Autosomal dominant	Genomics England PanelApp
Thrombocythemia 3 (OMIM:614521)	Strong	Autosomal dominant	Labcorp Genetics
Familial thrombocytosis (ORPHANET:71493)	Supportive	Autosomal dominant	Orphanet

Orphanet ID	Disease Name	Type	Gene Count
729	Polycythemia vera	Disease	1
824	Primary myelofibrosis	Disease	4
3318	Essential thrombocythemia	Disease	6
71493	Familial thrombocytosis	Disease	3
131	Budd-Chiari syndrome	Disease	3
667662	Breast implant-associated ALCL	Disease	7

HPO ID	Phenotype
HP:0001894	Thrombocytosis
HP:0001901	Polycythemia
HP:0001898	Increased red blood cell mass
HP:0001899	Increased hematocrit
HP:0001900	Increased circulating hemoglobin
HP:0005547	Myeloproliferative disorder
HP:0011974	Myelofibrosis
HP:0001978	Extramedullary hematopoiesis
HP:0005513	Increased megakaryocyte count
HP:0031020	Bone marrow hypercellularity
HP:0001744	Splenomegaly
HP:0002240	Hepatomegaly
HP:0001433	Hepatosplenomegaly
HP:0001907	Thromboembolism
HP:0001977	Abnormal thrombosis
HP:0004420	Arterial thrombosis
HP:0004936	Venous thrombosis
HP:0030242	Portal vein thrombosis
HP:0030243	Hepatic vein thrombosis
HP:0002639	Budd-Chiari syndrome
HP:0001297	Stroke
HP:0002140	Ischemic stroke
HP:0002326	Transient ischemic attack
HP:0002637	Cerebral ischemia
HP:0001342	Cerebral hemorrhage
HP:0001658	Myocardial infarction
HP:0001681	Angina pectoris
HP:0002204	Pulmonary embolism
HP:0032147	Erythromelalgia
HP:0000989	Pruritus
HP:0001892	Abnormal bleeding
HP:0000978	Bruising susceptibility
HP:0000967	Petechiae
HP:0000979	Purpura
HP:0031364	Ecchymosis
HP:0003010	Prolonged bleeding time
HP:0002239	Gastrointestinal hemorrhage
HP:0000421	Epistaxis
HP:0000225	Gingival bleeding
HP:0012378	Fatigue
HP:0003388	Easy fatigability
HP:0001824	Weight loss
HP:0001945	Fever
HP:0011134	Low-grade fever
HP:0002315	Headache
HP:0002076	Migraine
HP:0002321	Vertigo
HP:0000360	Tinnitus
HP:0002027	Abdominal pain
HP:0033842	Early satiety

GWAS Study	Trait	P-value
GCST90000032_10	Myeloproliferative neoplasms	3×10⁻¹²⁸
GCST90002402_169	Platelet count	1×10⁻¹¹²
GCST90002400_50	Plateletcrit	1×10⁻¹²⁰
GCST001725_99	Inflammatory bowel disease	8×10⁻⁴⁵
GCST90002381_32	Eosinophil count	2×10⁻⁴³
GCST90002382_244	Eosinophil percentage	2×10⁻³⁶
GCST90002400_1	Plateletcrit	6×10⁻³⁶
GCST90002402_170	Platelet count	8×10⁻³⁴
GCST90002402_171	Platelet count	3×10⁻²⁸
GCST000964_38	Ulcerative colitis	2×10⁻²⁵
GCST90002400_2	Plateletcrit	6×10⁻²⁴
GCST000357_1	Myeloproliferative neoplasms	4×10⁻²⁰
GCST006611_31	HDL cholesterol	1×10⁻¹⁹
GCST006614_83	Total cholesterol	1×10⁻¹⁸
GCST003622_69	Systemic lupus erythematosus	2×10⁻¹⁷
GCST90002403_56	Red blood cell count	1×10⁻¹⁶
GCST004606_23	Eosinophil count	4×10⁻¹⁶
GCST90002390_346	Mean corpuscular hemoglobin	1×10⁻¹⁴
GCST003622_59	Systemic lupus erythematosus	4×10⁻¹⁴
GCST90002381_33	Eosinophil count	3×10⁻¹⁴
GCST006612_80	LDL cholesterol	9×10⁻¹⁴
GCST90002392_60	Mean corpuscular volume	2×10⁻¹³
GCST000879_49	Crohn's disease	1×10⁻¹³
GCST90002398_495	Neutrophil count	2×10⁻¹²
GCST90002407_32	White blood cell count	7×10⁻¹²
GCST009465_3	Platelet count	3×10⁻¹²
GCST002840_1	Myeloproliferative neoplasms	1×10⁻¹⁰
GCST90002394_561	Monocyte percentage	2×10⁻¹⁰
GCST005038_19	Allergic disease	3×10⁻¹⁰
GCST000207_17	Crohn's disease	3×10⁻⁹

Category	Count
Ensembl Transcripts	15
RefSeq mRNA	7
Exons (canonical)	25
UniProt Entries	1 (reviewed)
InterPro Domains	23
PDB Structures	164+
Orthologs	4 (mouse, rat, zebrafish x2)
Paralogs	32
ClinVar Variants	33+
AlphaMissense Predictions	7,572
SpliceAI Predictions	4,458
Reactome Pathways	38
GO Terms	130
STRING Interactions	5,828
BioGRID Interactions	277+
Approved Drugs (Phase 4)	30+
Phase 3 Candidates	11
HPO Phenotypes	125
GWAS Associations	57
Orphanet Diseases	6