Gene Gene information from NCBI Gene database.
Entrez ID 3181
Gene name Heterogeneous nuclear ribonucleoprotein A2/B1
Gene symbol HNRNPA2B1
Synonyms (NCBI Gene)
HNRNPA2HNRNPB1HNRPA2HNRPA2B1HNRPB1IBMPFD2OPMD2RNPA2SNRPB1
Chromosome 7
Chromosome location 7p15.2
Summary This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs i
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs397515326 T>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
790
miRTarBase ID miRNA Experiments Reference
MIRT027027 hsa-miR-103a-3p Sequencing 20371350
MIRT031508 hsa-miR-16-5p Sequencing 20371350
MIRT051404 hsa-let-7f-5p CLASH 23622248
MIRT031508 hsa-miR-16-5p CLASH 23622248
MIRT049721 hsa-miR-92a-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
BRCA1 Repression 21099359
MYC Activation 20010808
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IC 9731529, 11991638
GO:0000398 Process MRNA splicing, via spliceosome IMP 26321680
GO:0000781 Component Chromosome, telomeric region ISS
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600124 5033 ENSG00000122566
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22626
Protein name Heterogeneous nuclear ribonucleoproteins A2/B1 (hnRNP A2/B1)
Protein function Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabiliz
PDB 1X4B , 5EN1 , 5HO4 , 5WWE , 5WWF , 5WWG , 6WPQ , 6WQK , 7WM3 , 8DU2 , 8DUW , 8EC7 , 8HNI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 23 92 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 114 183 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MEKTLETVPLERKKREKEQFRKLFIGGLSFETTEESLRNYYEQWGKLTDCVVMRDPASKR
SRGFGFVTFSSMAEVDAAMAARPHSIDGRVVE
PKRAVAREESGKPGAHVTVKKLFVGGIK
EDTEEHHLRDYFEEYGKIDTIEIITDRQSGKKRGFGFVTFDDHDPVDKIVLQKYHTINGH
NAE
VRKALSRQEMQEVQSSRSGRGGNFGFGDSRGGGGNFGPGPGSNFRGGSDGYGSGRGF
GDGYNGYGGGPGGGNFGGSPGYGGGRGGYGGGGPGYGNQGGGYGGGYDNYGGGNYGSGNY
NDFGNYNQQPSNYGPMKSGNFGGSRNMGGPYGGGNYGPGGSGGSGGYGGRSRY
Sequence length 353
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Amyotrophic lateral sclerosis   mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Frontotemporal dementia Likely pathogenic rs1783018501 RCV001810078
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 Likely pathogenic; Pathogenic rs2128109836, rs397515326 RCV002010797
RCV000055652
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculopharyngeal muscular dystrophy 2 Pathogenic rs2535701680, rs2535701912, rs2535702155 RCV003319290
RCV003319291
RCV003319292
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 33746977, 35529270 Associate
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia CTD_human_DG 26437031
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 40183343 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 24612671, 26728149, 27773581, 28389532, 28389692, 28980860, 29131108, 29203801, 29358076
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GENOMICS_ENGLAND_DG 27773581
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 29358076, 35355568 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anaplasia Anaplasia BEFREE 20604928
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 24998203
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia HPO_DG
★☆☆☆☆
Found in Text Mining only