Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3181
Gene name Gene Name - the full gene name approved by the HGNC.
Heterogeneous nuclear ribonucleoprotein A2/B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HNRNPA2B1
Synonyms (NCBI Gene) Gene synonyms aliases
HNRNPA2, HNRNPB1, HNRPA2, HNRPA2B1, HNRPB1, IBMPFD2, OPMD2, RNPA2, SNRPB1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IBMPFD2, OPMD2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
BRCA1 Repression 21099359
MYC Activation 20010808
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000398 Process MRNA splicing, via spliceosome IC 9731529, 11991638
GO:0000398 Process MRNA splicing, via spliceosome IMP 26321680
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0000781 Component Chromosome, telomeric region ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600124 5033 ENSG00000122566
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
27773581
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Frontotemporal dementia Frontotemporal dementia rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092
View all (31 more)
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Oculopharyngeal Muscular Dystrophy oculopharyngeal muscular dystrophy 2 GenCC
Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia inclusion body myopathy with Paget disease of bone and frontotemporal dementia GenCC
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 28542905, 35637421
Adenocarcinoma of Lung Stimulate 32086933
Adenocarcinoma of Lung Associate 35343834, 35529270, 36061307
Adrenocortical Carcinoma Associate 33746977, 35529270
Alzheimer Disease Associate 40183343
Amyotrophic Lateral Sclerosis Associate 29358076, 35355568
Bone Diseases Associate 36451863
Breast Neoplasms Stimulate 31263129
Breast Neoplasms Associate 34273466, 35529270
Carcinogenesis Associate 37308993, 38070488, 8631886