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ELAVL2 ELAV like RNA binding protein 2 [ Homo sapiens (human) ]

Gene ID: 1993, updated on 5-Apr-2020

Summary

Official Symbol
ELAVL2provided by HGNC
Official Full Name
ELAV like RNA binding protein 2provided by HGNC
Primary source
HGNC:HGNC:3313
See related
Ensembl:ENSG00000107105 MIM:601673
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HUB; HELN1; HEL-N1
Summary
The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Expression
Biased expression in testis (RPKM 13.9) and brain (RPKM 8.2) See more
Orthologs

Genomic context

See ELAVL2 in Genome Data Viewer
Location:
9p21.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (23690099..23850708, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (23690097..23826342, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929563 Neighboring gene SUMO2 pseudogene 2 Neighboring gene NOP56 ribonucleoprotein pseudogene 2 Neighboring gene uncharacterized LOC105375992 Neighboring gene uncharacterized LOC105375993 Neighboring gene zinc finger protein 791 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-11-28)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2018-11-28)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
mRNA 3'-UTR binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
ribonucleoprotein complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ELAV-like protein 2
Names
ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)
ELAV like neuron-specific RNA binding protein 2
ELAV-like neuronal protein 1 isoform Hel-N2
hu-antigen B
nervous system-specific RNA-binding protein Hel-N1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016425.2 RefSeqGene

    Range
    29335..165537
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171195.2NP_001164666.1  ELAV-like protein 2 isoform b

    See identical proteins and their annotated locations for NP_001164666.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode the same isoform.
    Source sequence(s)
    AL161628, AL445623
    Consensus CDS
    CCDS55298.1
    UniProtKB/Swiss-Prot
    Q12926
    Conserved Domains (1) summary
    TIGR01661
    Location:36345
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  2. NM_001171197.2NP_001164668.1  ELAV-like protein 2 isoform b

    See identical proteins and their annotated locations for NP_001164668.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2, 3, 26 and 27 encode the same protein (isoform b).
    Source sequence(s)
    AL161628, AL445623
    Consensus CDS
    CCDS55298.1
    UniProtKB/Swiss-Prot
    Q12926
    Related
    ENSP00000223951.5, ENST00000223951.10
    Conserved Domains (1) summary
    TIGR01661
    Location:36345
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  3. NM_001351455.2NP_001338384.1  ELAV-like protein 2 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Consensus CDS
    CCDS87645.1
    Conserved Domains (1) summary
    TIGR01661
    Location:65388
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  4. NM_001351456.2NP_001338385.1  ELAV-like protein 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL365204, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:65387
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  5. NM_001351457.2NP_001338386.1  ELAV-like protein 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:65387
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  6. NM_001351458.1NP_001338387.1  ELAV-like protein 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AB209294, AL161628, BC035004, BP201925, EG328530
    Conserved Domains (1) summary
    TIGR01661
    Location:65387
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  7. NM_001351459.2NP_001338388.1  ELAV-like protein 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:65387
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  8. NM_001351460.2NP_001338389.1  ELAV-like protein 2 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL365204, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:64387
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  9. NM_001351461.2NP_001338390.1  ELAV-like protein 2 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:64387
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  10. NM_001351462.2NP_001338391.1  ELAV-like protein 2 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL365204, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:64386
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  11. NM_001351463.2NP_001338392.1  ELAV-like protein 2 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:64386
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  12. NM_001351464.2NP_001338393.1  ELAV-like protein 2 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:65374
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  13. NM_001351465.2NP_001338394.1  ELAV-like protein 2 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:65374
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  14. NM_001351466.2NP_001338395.1  ELAV-like protein 2 isoform h

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL365204, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:50372
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  15. NM_001351467.2NP_001338396.1  ELAV-like protein 2 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:36359
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  16. NM_001351468.2NP_001338397.1  ELAV-like protein 2 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:36359
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  17. NM_001351469.1NP_001338398.1  ELAV-like protein 2 isoform i

    Status: REVIEWED

    Source sequence(s)
    AB209294, AL161628, AL445623, BC035004, EG328530, HY113544
    Conserved Domains (1) summary
    TIGR01661
    Location:36359
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  18. NM_001351470.2NP_001338399.1  ELAV-like protein 2 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:36359
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  19. NM_001351471.2NP_001338400.1  ELAV-like protein 2 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL161628, AL445623
    Conserved Domains (1) summary
    TIGR01661
    Location:36359
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  20. NM_001351472.2NP_001338401.1  ELAV-like protein 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant differs in the 5' UTR compared to variant 1. Variants 1, 21, 22, 23, 24 and 25 encode the same protein (isoform a).
    Source sequence(s)
    AL161628, AL445623
    Consensus CDS
    CCDS6515.1
    Related
    ENSP00000369460.1, ENST00000380117.5
    Conserved Domains (1) summary
    TIGR01661
    Location:36358
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  21. NM_001351473.1NP_001338402.1  ELAV-like protein 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22) differs in the 5' UTR compared to variant 1. Variants 1, 21, 22, 23, 24 and 25 encode the same protein (isoform a).
    Source sequence(s)
    AB209294, AL161628, BC035004, EG328530, HY113544
    Consensus CDS
    CCDS6515.1
    Conserved Domains (1) summary
    TIGR01661
    Location:36358
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  22. NM_001351474.1NP_001338403.1  ELAV-like protein 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (23) differs in the 5' UTR compared to variant 1. Variants 1, 21, 22, 23, 24 and 25 encode the same protein (isoform a).
    Source sequence(s)
    AB209294, AL161628, BC035004, EG328530, HY113544
    Consensus CDS
    CCDS6515.1
    Conserved Domains (1) summary
    TIGR01661
    Location:36358
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  23. NM_001351475.1NP_001338404.1  ELAV-like protein 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (24) differs in the 5' UTR compared to variant 1. Variants 1, 21, 22, 23, 24 and 25 encode the same protein (isoform a).
    Source sequence(s)
    AB209294, BC035004, BI458066
    Consensus CDS
    CCDS6515.1
    Related
    ENSP00000440998.1, ENST00000544538.5
    Conserved Domains (1) summary
    TIGR01661
    Location:36358
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  24. NM_001351476.2NP_001338405.1  ELAV-like protein 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (25) differs in the 5' UTR compared to variant 1. Variants 1, 21, 22, 23, 24 and 25 encode the same protein (isoform a).
    Source sequence(s)
    AL161628, AL445623
    Consensus CDS
    CCDS6515.1
    Conserved Domains (1) summary
    TIGR01661
    Location:36358
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  25. NM_001351477.2NP_001338406.1  ELAV-like protein 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (26) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2, 3, 26 and 27 encode the same protein (isoform b).
    Source sequence(s)
    AL161628, AL445623
    Consensus CDS
    CCDS55298.1
    Conserved Domains (1) summary
    TIGR01661
    Location:36345
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  26. NM_001351478.1NP_001338407.1  ELAV-like protein 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (27) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2, 3, 26 and 27 encode the same protein (isoform b).
    Source sequence(s)
    AB209294, AL161628, BC035004, CN256188, EG328530, HY113544
    Consensus CDS
    CCDS55298.1
    Conserved Domains (1) summary
    TIGR01661
    Location:36345
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  27. NM_004432.5NP_004423.2  ELAV-like protein 2 isoform a

    See identical proteins and their annotated locations for NP_004423.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform (a). Variants 1, 21, 22, 23, 24 and 25 encode the same protein (isoform a).
    Source sequence(s)
    AL161628, AL445623
    Consensus CDS
    CCDS6515.1
    UniProtKB/Swiss-Prot
    Q12926
    Related
    ENSP00000380479.2, ENST00000397312.7
    Conserved Domains (1) summary
    TIGR01661
    Location:36358
    ELAV_HUD_SF; ELAV/HuD family splicing factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    23690099..23850708 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517783.3XP_011516085.1  ELAV-like protein 2 isoform X5

    See identical proteins and their annotated locations for XP_011516085.1

    Conserved Domains (1) summary
    TIGR01661
    Location:50373
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  2. XM_011517779.3XP_011516081.1  ELAV-like protein 2 isoform X3

    See identical proteins and their annotated locations for XP_011516081.1

    UniProtKB/TrEMBL
    A0A0A0MRX1
    Conserved Domains (1) summary
    TIGR01661
    Location:65388
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  3. XM_006716735.4XP_006716798.1  ELAV-like protein 2 isoform X3

    See identical proteins and their annotated locations for XP_006716798.1

    UniProtKB/TrEMBL
    A0A0A0MRX1
    Related
    ENSP00000369453.4, ENST00000380110.8
    Conserved Domains (1) summary
    TIGR01661
    Location:65388
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  4. XM_011517785.2XP_011516087.1  ELAV-like protein 2 isoform X6

    See identical proteins and their annotated locations for XP_011516087.1

    Conserved Domains (1) summary
    TIGR01661
    Location:36359
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  5. XM_011517778.2XP_011516080.2  ELAV-like protein 2 isoform X2

  6. XM_017014415.1XP_016869904.1  ELAV-like protein 2 isoform X4

  7. XM_011517780.3XP_011516082.1  ELAV-like protein 2 isoform X3

    See identical proteins and their annotated locations for XP_011516082.1

    UniProtKB/TrEMBL
    A0A0A0MRX1
    Conserved Domains (1) summary
    TIGR01661
    Location:65388
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  8. XM_011517786.2XP_011516088.1  ELAV-like protein 2 isoform X6

    See identical proteins and their annotated locations for XP_011516088.1

    Conserved Domains (1) summary
    TIGR01661
    Location:36359
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  9. XM_005251393.3XP_005251450.1  ELAV-like protein 2 isoform X6

    See identical proteins and their annotated locations for XP_005251450.1

    Conserved Domains (1) summary
    TIGR01661
    Location:36359
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  10. XM_011517776.2XP_011516078.1  ELAV-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011516078.1

    Conserved Domains (1) summary
    TIGR01661
    Location:65375
    ELAV_HUD_SF; ELAV/HuD family splicing factor
  11. XM_024447438.1XP_024303206.1  ELAV-like protein 2 isoform X8

    Conserved Domains (1) summary
    cl25887
    Location:1210
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
  12. XM_017014426.1XP_016869915.1  ELAV-like protein 2 isoform X7

    Conserved Domains (1) summary
    TIGR01661
    Location:1224
    ELAV_HUD_SF; ELAV/HuD family splicing factor

RNA

  1. XR_002956763.1 RNA Sequence

  2. XR_929212.2 RNA Sequence

  3. XR_929211.1 RNA Sequence

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