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Gene Gene information from NCBI Gene database.
Entrez ID 221092
Gene name Heterogeneous nuclear ribonucleoprotein U like 2
Gene symbol HNRNPUL2
Synonyms (NCBI Gene)
HNRPUL2SAF-A2
Chromosome 11
Chromosome location 11q12.3
miRNA miRNA information provided by mirtarbase database.
355 Show/Hide all (355)
miRTarBase ID miRNA Experiments Reference
MIRT019244 hsa-miR-331-3p Sequencing 20371350
MIRT043657 hsa-miR-326 CLASH 23622248
MIRT1052231 hsa-miR-1182 CLIP-seq
MIRT1052232 hsa-miR-1183 CLIP-seq
MIRT1052233 hsa-miR-1205 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9 Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q1KMD3
Protein name Heterogeneous nuclear ribonucleoprotein U-like protein 2 (Scaffold-attachment factor A2) (SAF-A2)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00622 SPRY 291 → 417 SPRY domain Family
PF02037 SAP 3 → 37 SAP domain Family
PF13671 AAA_33 454 → 599 Domain
Sequence
MEVKRLKVTELRSELQRRGLDSRGLKVDLAQRLQEALDAEMLEDEAGGGGAGPGGACKAE
PRPVAASGGGPGGDEEEDEEEEEEDEEALLEDEDEEPPPAQALGQAAQPPPEPPEAAAME
AAAEPDASEKPAEATAGSGGVNGGEEQGLGKREEDEPEERSGDETPGSEVPGDKAAEEQG
DDQDSEKSKPAGSDGERRGVKRQRDEKDEHGRAYYEFREEAYHSRSKSPLPPEEEAKDEE
EDQTLVNLDTYTSDLHFQVSKDRYGGQPLFSEKFPTLWSGARSTYGVTKGKVCFEAKVTQ
NLPMKEGCTEVSLLRVGWSVDFSRPQLGEDEFSYGFDGRGLKAENGQFEEFGQTFGENDV
IGCFANFETEEVELSFSKNGEDLGVAFWISKDSLADRALLPHVLCKNCVVELNFGQK
EEP
FFPPPEEFVFIHAVPVEERVRTAVPPKTIEECEVILMVGLPGSGKTQWALKYAKENPEKR
YNVLGAETVLNQMRMKGLEEPEMDPKSRDLLVQQASQCLSKLVQIASRTKRNFILDQCNV
YNSGQRRKLLLFKTFSRKVVVVVPNEEDWKKRLELRKEVEGDDVPESIMLEMKANFSLP
E
KCDYMDEVTYGELEKEEAQPIVTKYKEEARKLLPPSEKRTNRRNNRNKRNRQNRSRGQGY
VGGQRRGYDNRAYGQQYWGQPGNRGGYRNFYDRYRGDYDRFYGRDYEYNRYRDYYRQYNR
DWQSYYYHHPQDRDRYYRNYYGYQGYR
Sequence length 747
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
HNRNPUL2-related disorder Likely pathogenic rs763589221 RCV003410761
★★★★★
★★★★☆
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 Reference Evidence Score
AUTISTIC DISORDER — CTD, Disgenet
CTD, Disgenet
35982159
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER — GenCC —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE — GWAS catalog 38102678
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY — Disgenet —
★★★★★
★★☆☆☆
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
Autistic Disorder Autism Pubtator 35982159 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cognition Disorders Cognition disorder Pubtator 35982159 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28594403
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 30957125
★★★★★
★☆☆☆☆
Found in Text Mining only