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

Gene ID: 4808, updated on 12-Aug-2022

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; AllianceGenome:HGNC:7818
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; HH27; NSCL2; bHLHa34
Summary
Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within with a positive effect on apoptotic process; hypothalamus gonadotrophin-releasing hormone neuron development; and peripheral nervous system development. Predicted to act upstream of or within several processes, including cell migration in hindbrain; male gonad development; and male mating behavior. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See NHLH2 in Genome Data Viewer
Location:
1p13.1
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (115831344..115841126, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (115844385..115849134, complement)
105.20220307 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 Sharpr-MPRA regulatory region 4355 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-like

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0490

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of transcription regulator 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)

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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, Q5T1P6
    UniProtKB/TrEMBL
    A0A024R0I7, A1PLF1
    Conserved Domains (1) summary
    cd19702
    Location:63135
    bHLH_TS_HEN2; basic helix-loop-helix (bHLH) domain found in helix-loop-helix protein 2 (HEN-2) and similar proteins
  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, Q5T1P6
    UniProtKB/TrEMBL
    A0A024R0I7, A1PLF1
    Related
    ENSP00000322087.3, ENST00000320238.3
    Conserved Domains (1) summary
    cd19702
    Location:63135
    bHLH_TS_HEN2; basic helix-loop-helix (bHLH) domain found in helix-loop-helix protein 2 (HEN-2) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    115831344..115841126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421407.1XP_047277363.1  helix-loop-helix protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q5T1P6
    UniProtKB/TrEMBL
    A1PLF1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    115844385..115849134 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)