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HBEGF heparin binding EGF like growth factor [ Homo sapiens (human) ]

Gene ID: 1839, updated on 9-Dec-2024

Summary

Official Symbol
HBEGFprovided by HGNC
Official Full Name
heparin binding EGF like growth factorprovided by HGNC
Primary source
HGNC:HGNC:3059
See related
Ensembl:ENSG00000113070 MIM:126150; AllianceGenome:HGNC:3059
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
DTR; DTS; DTSF; HEGFL
Summary
Enables growth factor activity; heparin binding activity; and transmembrane receptor protein tyrosine kinase activator activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of wound healing. Located in cell surface. Is active in extracellular space. Implicated in glomerulosclerosis and perinatal necrotizing enterocolitis. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Broad expression in gall bladder (RPKM 39.1), esophagus (RPKM 22.6) and 20 other tissues See more
Orthologs
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Genomic context

See HBEGF in Genome Data Viewer
Location:
5q31.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (140332843..140346603, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (140858275..140872035, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (139712428..139726188, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16446 Neighboring gene cysteine rich transmembrane module containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139618811-139619649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139620488-139621326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139621327-139622163 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:139638840-139640039 Neighboring gene prefoldin subunit 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139654428-139654928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139654929-139655429 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:139678515-139679031 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:139682591-139682795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23267 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:139702306-139703505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139742660-139743205 Neighboring gene solute carrier family 4 member 9 Neighboring gene uncharacterized LOC124901087 Neighboring gene ANKHD1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16449

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables epidermal growth factor receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables growth factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables heparin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables receptor ligand activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in ERBB2-EGFR signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in ERBB2-ERBB4 signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in epidermal growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in epidermal growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in muscle organ development TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of elastin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of keratinocyte migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of heart contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in wound healing, spreading of epidermal cells IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell surface NAS
Non-traceable Author Statement
more info
PubMed 
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
located_in endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular space TAS
Traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
proheparin-binding EGF-like growth factor
Names
diphtheria toxin receptor (heparin-binding EGF-like growth factor)
diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)
heparin-binding epidermal growth factor

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_001945.3NP_001936.1  proheparin-binding EGF-like growth factor precursor

    See identical proteins and their annotated locations for NP_001936.1

    Status: VALIDATED

    Source sequence(s)
    AK313202, BC033097, D55114
    Consensus CDS
    CCDS4223.1
    UniProtKB/Swiss-Prot
    B2R821, Q99075
    UniProtKB/TrEMBL
    Q53H93
    Related
    ENSP00000230990.6, ENST00000230990.7
    Conserved Domains (1) summary
    cl28647
    Location:108148
    PHA02887; EGF-like protein; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    140332843..140346603 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    140858275..140872035 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)