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NHLH2 nescient helix-loop-helix 2 [ Homo sapiens (human) ]

Gene ID: 4808, updated on 7-Jun-2020

Summary

Official Symbol
NHLH2provided by HGNC
Official Full Name
nescient helix-loop-helix 2provided by HGNC
Primary source
HGNC:HGNC:7818
See related
Ensembl:ENSG00000177551 MIM:162361
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEN2; NSCL2; bHLHa34
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See NHLH2 in Genome Data Viewer
Location:
1p13.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (115830777..115841126, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (116378998..116383747, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene VANGL planar cell polarity protein 1 Neighboring gene calsequestrin 2 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 43 Neighboring gene serine palmitoyltransferase small subunit A 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0490

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
mating behavior IEA
Inferred from Electronic Annotation
more info
 
ovulation cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
helix-loop-helix protein 2
Names
HEN-2
NSCL-2
class A basic helix-loop-helix protein 34

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.

mRNA and Protein(s)

  1. NM_001111061.2NP_001104531.1  helix-loop-helix protein 2

    See identical proteins and their annotated locations for NP_001104531.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1.
    Source sequence(s)
    AL449264, BC096360
    Consensus CDS
    CCDS885.1
    UniProtKB/Swiss-Prot
    Q02577
    UniProtKB/TrEMBL
    A0A024R0I7
    Conserved Domains (1) summary
    smart00353
    Location:85134
    HLH; helix loop helix domain
  2. NM_005599.3NP_005590.1  helix-loop-helix protein 2

    See identical proteins and their annotated locations for NP_005590.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AL449264, BC096360, DA608185
    Consensus CDS
    CCDS885.1
    UniProtKB/Swiss-Prot
    Q02577
    UniProtKB/TrEMBL
    A0A024R0I7
    Related
    ENSP00000322087.3, ENST00000320238.3
    Conserved Domains (1) summary
    smart00353
    Location:85134
    HLH; helix loop helix domain

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    115830777..115841126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001370.1XP_016856859.1  helix-loop-helix protein 2 isoform X1

RNA

  1. XR_946659.3 RNA Sequence

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