HNRNPAB

Summary

HNRNPAB (heterogeneous nuclear ribonucleoprotein A/B, HGNC:5034) is a protein-coding gene on chromosome 5q35.3, encoding Heterogeneous nuclear ribonucleoprotein A/B (Q99729). Binds single-stranded RNA.

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are produced by RNA polymerase II and are components of the heterogeneous nuclear RNA (hnRNA) complexes. They are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene, which binds to one of the components of the multiprotein editosome complex, has two repeats of quasi-RRM (RNA recognition motif) domains that bind to RNAs. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Source: NCBI Gene 3182 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 57 total
• Druggable target: yes
• MANE Select transcript: NM_031266

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5034
Approved symbol	HNRNPAB
Name	heterogeneous nuclear ribonucleoprotein A/B
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	ABBP1, FLJ40338
Ensembl gene	ENSG00000197451
Ensembl biotype	protein_coding
OMIM	602688
Entrez	3182

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 18 protein_coding, 1 retained_intron

ENST00000355836, ENST00000358344, ENST00000504796, ENST00000504898, ENST00000506259, ENST00000506339, ENST00000514633, ENST00000515193, ENST00000885118, ENST00000885119, ENST00000885120, ENST00000885121, ENST00000916337, ENST00000916338, ENST00000916339, ENST00000916340, ENST00000916341, ENST00000916342, ENST00000916343

RefSeq mRNA: 2 — MANE Select: NM_031266 NM_004499, NM_031266

CCDS: CCDS34309, CCDS34310

Canonical transcript exons

ENST00000358344 — 8 exons

Exon	Start	End
ENSE00001155951	178210132	178210272
ENSE00001155955	178209330	178209447
ENSE00001155967	178206732	178206890
ENSE00001155975	178205842	178206010
ENSE00001218722	178207094	178207225
ENSE00001425036	178204815	178205046
ENSE00002040415	178210553	178211163
ENSE00002068046	178204533	178204740

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 195.0581 / max 1544.1456, expressed in 1828 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
60522	187.4075	1828
60521	4.4440	1686
60520	3.2067	1610

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of sigmoid colon	UBERON:0004993	99.37	gold quality
colonic mucosa	UBERON:0000317	99.19	gold quality
embryo	UBERON:0000922	98.86	gold quality
ganglionic eminence	UBERON:0004023	98.81	gold quality
penis	UBERON:0000989	98.73	gold quality
ileal mucosa	UBERON:0000331	98.56	gold quality
cortical plate	UBERON:0005343	98.34	gold quality
ventricular zone	UBERON:0003053	98.32	gold quality
mucosa of transverse colon	UBERON:0004991	98.30	gold quality
rectum	UBERON:0001052	98.24	gold quality
mammalian vulva	UBERON:0000997	98.23	gold quality
upper leg skin	UBERON:0004262	98.19	gold quality
gingiva	UBERON:0001828	98.18	gold quality
thymus	UBERON:0002370	98.11	gold quality
gingival epithelium	UBERON:0001949	98.09	gold quality
nipple	UBERON:0002030	98.07	gold quality
epithelium of esophagus	UBERON:0001976	98.01	gold quality
esophagus squamous epithelium	UBERON:0006920	97.99	gold quality
transverse colon	UBERON:0001157	97.97	gold quality
caecum	UBERON:0001153	97.86	gold quality
pharyngeal mucosa	UBERON:0000355	97.80	gold quality
trabecular bone tissue	UBERON:0002483	97.78	gold quality
endometrium epithelium	UBERON:0004811	97.77	gold quality
skin of hip	UBERON:0001554	97.75	gold quality
nasal cavity epithelium	UBERON:0005384	97.73	gold quality
vermiform appendix	UBERON:0001154	97.72	gold quality
duodenum	UBERON:0002114	97.65	gold quality
esophagus mucosa	UBERON:0002469	97.57	gold quality
nasal cavity mucosa	UBERON:0001826	97.56	gold quality
large intestine	UBERON:0000059	97.53	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-GEOD-130473	yes	530.39
E-HCAD-4	yes	146.02
E-HCAD-6	yes	47.75
E-HCAD-13	yes	22.05
E-CURD-122	yes	19.47
E-MTAB-8271	yes	10.31
E-CURD-114	yes	7.17
E-CURD-88	yes	5.37
E-GEOD-36552	no	902.43
E-MTAB-10290	no	375.82
E-MTAB-7008	no	374.70
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

5 targets.

Target	Regulation
AVP
HNRNPA2B1
HRAS
PANK2
SPP1

miRNA regulators (miRDB)

44 targeting HNRNPAB, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-8054	99.48	70.81	2084
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-4480	99.42	66.02	735
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954

Literature-anchored findings (GeneRIF, showing 8)

• physical association of p63alpha and ABBP1 led to a specific shift of FGFR-2 alternative splicing toward the K-SAM isoform essential for epithelial differentiation (PMID:12692135)
• Findings define HNRNPAB as an activator of EMT and metastasis in HCC that predicts poor clinical outcomes. (PMID:24638979)
• In HCC [hepatocellular carcinoma ] cells, hnRNPAB and Kap1 form protein complexes. The expression levels of hnRNPAB alone or in combination with Kap1 in HCC patients are important because they provide not only a predictor for HCC prognosis but also a therapeutic target for future studies. (PMID:28763864)
• findings offer new insights into the regulatory mechanisms that underlie HNRNPAB cancer-promoting activities and demonstrate that lnc-ELF209 is a HNRNPAB-regulated lncRNA that may play an important role in the inhibition of hepatocellular carcinoma progression (PMID:31090062)
• MicroRNA8063 targets heterogeneous nuclear ribonucleoprotein AB to inhibit the selfrenewal of colorectal cancer stem cells via the Wnt/betacatenin pathway. (PMID:34396427)
• Knockdown of hnRNPAB reduces the stem cell properties and enhances the chemosensitivity of human colorectal cancer stem cells. (PMID:37165920)
• Impact of heterogeneous nuclear ribonucleoprotein A/B subtype overexpression on the expression of cancer stem cell markers CD133 and CD44 and cellular proliferation capacity. (PMID:38279469)
• hnRNPAB Promotes Pancreatic Ductal Adenocarcinoma Extravasation and Liver Metastasis by Stabilizing MYC mRNA. (PMID:38967522)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	hnrnpaba	ENSDARG00000007960
danio_rerio	hnrnpabb	ENSDARG00000099865
mus_musculus	Hnrnpab	ENSMUSG00000020358
rattus_norvegicus	Hnrnpab	ENSRNOG00000003645

Paralogs (36): DAZAP1 (ENSG00000071626), CIRBP (ENSG00000099622), RBM23 (ENSG00000100461), RBM3 (ENSG00000102317), NCL (ENSG00000115053), TIA1 (ENSG00000116001), HNRNPA2B1 (ENSG00000122566), RBM19 (ENSG00000122965), RBM39 (ENSG00000131051), MSI1 (ENSG00000135097), HNRNPA1 (ENSG00000135486), HNRNPD (ENSG00000138668), HNRNPA1L2 (ENSG00000139675), RBMX (ENSG00000147274), A1CF (ENSG00000148584), TIAL1 (ENSG00000151923), RBM46 (ENSG00000151962), HNRNPDL (ENSG00000152795), MSI2 (ENSG00000153944), RBM47 (ENSG00000163694), RBMY1F (ENSG00000169800), HNRNPA3 (ENSG00000170144), RBMXL2 (ENSG00000170748), RBM4B (ENSG00000173914), RBM4 (ENSG00000173933), RBMXL3 (ENSG00000175718), HNRNPA0 (ENSG00000177733), TRNAU1AP (ENSG00000180098), RBMXL1 (ENSG00000213516), HNRNPA1L3 (ENSG00000224578), RBMY1J (ENSG00000226941), RBMY1A1 (ENSG00000234414), RBMY1E (ENSG00000242389), RBMY1B (ENSG00000242875), RBMY1D (ENSG00000244395), DND1 (ENSG00000256453)

Protein

Protein identifiers

Heterogeneous nuclear ribonucleoprotein A/B — Q99729 (reviewed: Q99729)

Alternative names: APOBEC1-binding protein 1

All UniProt accessions (4): D6R9P3, D6RBZ0, D6RD18, Q99729

UniProt curated annotations — full annotation on UniProt →

Function. Binds single-stranded RNA. Has a high affinity for G-rich and U-rich regions of hnRNA. Also binds to APOB mRNA transcripts around the RNA editing site.

Subunit / interactions. Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Interacts with APOBEC1.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Ubiquitous.

Post-translational modifications. Dimethylation at Arg-322 is probably asymmetric.

Isoforms (4)

UniProt ID	Names	Canonical?
Q99729-1	1	yes
Q99729-2	2
Q99729-3	3
Q99729-4	4

RefSeq proteins (2): NP_004490, NP_112556* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR012956	CARG-binding_factor_N	Domain
IPR034846	hnRNPAB_RRM1	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076, PF08143

UniProt features (41 total): modified residue 19, strand 5, splice variant 3, region of interest 3, domain 2, cross-link 2, helix 2, turn 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3S7R	X-RAY DIFFRACTION	2.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99729-F1	65.30	0.13

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 (21): 242, 245, 245, 250, 253, 318, 322, 322, 322, 130, 203, 250, 253, 255, 271, 251, 254, 256, 272, 81 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 289 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, MORF_MTA1, MORF_ESPL1, MORF_SMC1L1, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_RESPONSE_TO_ACID_CHEMICAL, BASSO_B_LYMPHOCYTE_NETWORK, MORF_UBE2I, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, MORF_HDAC1, MORF_UBE2N, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MORF_RAD21, MORF_CDK2

GO Biological Process (11): epithelial to mesenchymal transition (GO:0001837), regulation of gene expression (GO:0010468), mRNA modification (GO:0016556), positive regulation of DNA-templated transcription (GO:0045893), regulation of cellular localization (GO:0060341), cellular response to amino acid stimulus (GO:0071230), chromosomal 5-methylcytosine DNA demethylation pathway (GO:0141166), regulation of intracellular mRNA localization (GO:1904580), negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623), positive regulation of macromolecule biosynthetic process (GO:0010557), negative regulation of RNA metabolic process (GO:0051253)

GO Molecular Function (6): RNA binding (GO:0003723), mRNA binding (GO:0003729), protein-containing complex binding (GO:0044877), sequence-specific double-stranded DNA binding (GO:1990837), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (10): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), dendrite (GO:0030425), mRNA editing complex (GO:0045293), neuronal ribonucleoprotein granule (GO:0071598), RNA polymerase II transcription regulator complex (GO:0090575), ribonucleoprotein complex (GO:1990904), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	3
cellular anatomical structure	3
regulation of macromolecule biosynthetic process	2
regulation of localization	2
mesenchymal cell differentiation	1
gene expression	1
RNA modification	1
mRNA metabolic process	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
regulation of cellular process	1
cellular localization	1
response to amino acid	1
cellular response to acid chemical	1
DNA metabolic process	1
intracellular mRNA localization	1
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	1
negative regulation of mRNA catabolic process	1
regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	1
macromolecule biosynthetic process	1
positive regulation of biosynthetic process	1
positive regulation of macromolecule metabolic process	1
negative regulation of macromolecule metabolic process	1
RNA metabolic process	1
negative regulation of nucleobase-containing compound metabolic process	1
regulation of RNA metabolic process	1
nucleic acid binding	1
RNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
neuron projection	1
dendritic tree	1
catalytic complex	1
cytoplasmic ribonucleoprotein granule	1
neuron projection cytoplasm	1

Protein interactions and networks

STRING

3258 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HNRNPAB	HNRNPC	P07910	913
HNRNPAB	HNRNPH1	P31943	771
HNRNPAB	HNRNPU	Q00839	723
HNRNPAB	SRSF1	Q07955	718
HNRNPAB	HNRNPK	P61978	711
HNRNPAB	HNRNPF	P52597	705
HNRNPAB	HNRNPH2	P55795	702
HNRNPAB	HNRNPM	P52272	675
HNRNPAB	RBFOX2	O43251	667
HNRNPAB	APOBEC1	P41238	661
HNRNPAB	PTBP1	P26599	657
HNRNPAB	HNRNPH3	P31942	655
HNRNPAB	RBFOX1	Q9NWB1	629
HNRNPAB	APOB	P04114	614
HNRNPAB	SFPQ	P23246	609

IntAct

247 interactions, top by confidence:

A	B	Type	Score
HNRNPC	KPNA3	psi-mi:“MI:0914”(association)	0.850
IFIT2	IFIT3	psi-mi:“MI:0914”(association)	0.780
N	HNRNPR	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
USE1	NBAS	psi-mi:“MI:0914”(association)	0.640
IGF2BP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
NCBP1	KPNA3	psi-mi:“MI:0914”(association)	0.640
HNRNPAB	TP63	psi-mi:“MI:0915”(physical association)	0.570
TP63	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.570
CHEK2	PPM1G	psi-mi:“MI:0914”(association)	0.560
HNRNPA2B1	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.560
HNRNPAB	TP63	psi-mi:“MI:0915”(physical association)	0.560
N	RBM47	psi-mi:“MI:0914”(association)	0.530
HNRNPAB	TP63	psi-mi:“MI:0915”(physical association)	0.520
HNRNPAB	E7	psi-mi:“MI:0915”(physical association)	0.490
RBM45	HNRNPDL	psi-mi:“MI:0914”(association)	0.460
ABCD1	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.400
TACSTD2	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.400
DHRS9	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.400
KIAA2013	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.400
KLHL41	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.400
CHRNB3	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.400
HNRNPDL	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (527): HNRNPAB (Affinity Capture-RNA), HNRNPAB (Affinity Capture-RNA), HNRNPAB (Affinity Capture-RNA), HNRNPAB (Protein-peptide), HNRNPAB (Affinity Capture-MS), HNRNPAB (Affinity Capture-MS), HNRNPAB (Affinity Capture-MS), HNRNPAB (Affinity Capture-MS), HNRNPAB (Affinity Capture-MS), HNRNPAB (Affinity Capture-MS), HNRNPAB (Affinity Capture-MS), HNRNPAB (Affinity Capture-MS), HNRNPAB (Affinity Capture-RNA), HNRNPAB (Co-fractionation), HNRNPAB (Co-fractionation)

ESM2 similar proteins: A0A2R8Y4L2, A5A6H4, A7VJC2, O88569, O89086, P04256, P07909, P09651, P09867, P17130, P21522, P22626, P48810, P49312, P51968, P51989, P51990, P51991, P51992, P60824, P60825, P60826, P98179, Q13151, Q14011, Q14103, Q22037, Q24491, Q28521, Q28IQ9, Q2HJ60, Q32P51, Q3SWU3, Q5RBU8, Q5RF83, Q5ZI72, Q640A2, Q6NU14, Q6URK4, Q7ZX83

Diamond homologs: A0A0D1C8Z4, A0A2R8Y4L2, A5A6H4, A7VJC2, D0VWM8, G5EFS2, O14979, O43347, O88569, O89086, O93235, O94432, P04256, P07909, P09405, P09651, P09867, P13383, P17130, P19338, P19682, P19683, P21522, P22626, P28644, P41891, P48809, P48810, P49312, P51968, P51989, P51990, P51991, P51992, P60824, P60825, P60826, P98179, Q02926, Q03878

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
HNRNPAB	“form complex”	“C-to-U editosome complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 161 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Processing of Capped Intron-Containing Pre-mRNA	15	10.1×	1e-08
mRNA Polyadenylation	14	10.1×	2e-08
mRNA Splicing - Major Pathway	17	7.6×	2e-08
mRNA Splicing	8	7.2×	2e-03
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	6	7.2×	9e-03
Neddylation	15	5.8×	6e-06
Dengue Virus-Host Interactions	12	4.5×	2e-03
Metabolism of RNA	11	3.8×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of cytoplasmic translation	5	35.1×	8e-05
mRNA stabilization	6	15.6×	3e-04
intrinsic apoptotic signaling pathway	6	15.3×	3e-04
autophagosome maturation	6	14.9×	3e-04
mitophagy	6	13.5×	4e-04
translational initiation	5	12.7×	2e-03
mRNA export from nucleus	6	12.6×	6e-04
regulation of alternative mRNA splicing, via spliceosome	7	12.1×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1209 predictions. Top by Δscore:

Variant	Effect	Δscore
5:178205036:G:GT	donor_gain	1.0000
5:178205039:G:GT	donor_gain	1.0000
5:178205042:GCGGG:G	donor_gain	1.0000
5:178205044:GGG:G	donor_gain	1.0000
5:178205045:GG:G	donor_gain	1.0000
5:178205045:GGG:G	donor_gain	1.0000
5:178205045:GGGTA:G	donor_loss	1.0000
5:178205046:GG:G	donor_gain	1.0000
5:178205046:GGTA:G	donor_loss	1.0000
5:178205047:GT:G	donor_loss	1.0000
5:178205048:T:G	donor_loss	1.0000
5:178206721:T:TA	acceptor_gain	1.0000
5:178206724:T:A	acceptor_gain	1.0000
5:178206730:A:AC	acceptor_loss	1.0000
5:178206730:A:AG	acceptor_gain	1.0000
5:178206730:AG:A	acceptor_gain	1.0000
5:178206731:G:A	acceptor_loss	1.0000
5:178206731:G:GA	acceptor_gain	1.0000
5:178206731:GG:G	acceptor_gain	1.0000
5:178206731:GGT:G	acceptor_gain	1.0000
5:178206731:GGTC:G	acceptor_gain	1.0000
5:178206731:GGTCC:G	acceptor_gain	1.0000
5:178206855:G:GT	donor_gain	1.0000
5:178206856:A:T	donor_gain	1.0000
5:178206865:GGGA:G	donor_gain	1.0000
5:178206866:G:GT	donor_loss	1.0000
5:178206866:GGAG:G	donor_gain	1.0000
5:178206886:GGGAG:G	donor_gain	1.0000
5:178206887:GGAG:G	donor_gain	1.0000
5:178206887:GGAGG:G	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000294138 (5:178210965 T>C), RS1000559336 (5:178210000 G>A,C), RS1000899703 (5:178211555 G>T), RS1001508270 (5:178204396 A>AGCGC), RS1001636041 (5:178208764 C>G), RS1001958837 (5:178204510 G>A,C,T), RS1002288004 (5:178204414 G>A,C), RS1002442466 (5:178205274 CTGCCAG>C), RS1002617880 (5:178211178 G>A), RS1003275158 (5:178203066 A>T), RS1003306016 (5:178202794 C>T), RS1003514293 (5:178206131 A>C,T), RS1003530203 (5:178206879 G>A), RS1004082894 (5:178205631 G>A), RS1004112274 (5:178205479 T>A)

Disease associations

OMIM: gene MIM:602688 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST006585_2852	Blood protein levels	1.000000e-09
GCST90002387_313	Immature fraction of reticulocytes	7.000000e-19
GCST90002405_163	Reticulocyte count	3.000000e-18
GCST90002406_190	Reticulocyte fraction of red cells	3.000000e-21

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067395 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.67	Kd	21.46	nM	CHEMBL3752910
7.67	ED50	21.46	nM	CHEMBL3752910
5.87	Kd	1361	nM	CHEMBL5653589
5.87	ED50	1361	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148527: Binding affinity to human HNRNPAB incubated for 45 mins by Kinobead based pull down assay	kd	0.0215	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148527: Binding affinity to human HNRNPAB incubated for 45 mins by Kinobead based pull down assay	kd	1.3614	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
bisphenol A	decreases expression, affects cotreatment	2
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Acrolein	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Estradiol	increases expression	2
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Tobacco Smoke Pollution	increases expression, affects expression	2
Aflatoxin B1	increases expression	2
afuresertib	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	decreases sumoylation	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
geraniol	decreases expression	1
methylselenic acid	decreases expression	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
trichostatin A	affects expression	1
afimoxifene	decreases reaction, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
bleomycetin	increases expression	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
chloropicrin	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
abrine	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651569	Binding	Binding affinity to human HNRNPAB incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2Z1	Abcam HEK293T HNRNPAB KO	Transformed cell line	Female

Clinical trials (associated diseases)

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