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BTC betacellulin [ Homo sapiens (human) ]

Gene ID: 685, updated on 18-Aug-2020

Summary

Official Symbol
BTCprovided by HGNC
Official Full Name
betacellulinprovided by HGNC
Primary source
HGNC:HGNC:1121
See related
Ensembl:ENSG00000174808 MIM:600345
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
Summary
This gene encodes a member of the epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the secreted growth factor. A secreted form and a membrane-anchored form of this protein bind to multiple different EGF receptors. This protein promotes pancreatic cell proliferation and insulin secretion, as well as retinal vascular permeability. Mutations in this gene may be associated with type 2 diabetes in human patients. [provided by RefSeq, Nov 2015]
Expression
Broad expression in skin (RPKM 3.9), esophagus (RPKM 3.5) and 18 other tissues See more
Orthologs

Genomic context

See BTC in Genome Data Viewer
Location:
4q13.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (74744759..74794718, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (75671448..75719882, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory regions 3589 and 13401 Neighboring gene uncharacterized LOC107986229 Neighboring gene uncharacterized LOC105377278 Neighboring gene uncharacterized LOC105377282

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
epidermal growth factor receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ERBB2 signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell division IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of epidermal growth factor-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of urine volume IEA
Inferred from Electronic Annotation
more info
 
regulation of cell motility TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
clathrin-coated vesicle membrane TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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_001316963.2NP_001303892.1  probetacellulin isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2, also known as BTC-beta or BTC-delta4) lacks the transmembrane domain and a portion of the EGF domain compared to isoform 1.
    Source sequence(s)
    AB109441, AC116645, BI552049, BX114471, S55606
    UniProtKB/Swiss-Prot
    P35070
    UniProtKB/TrEMBL
    A0A0S2Z3I5
    Related
    ENSP00000421747.1, ENST00000512743.1
  2. NM_001729.4NP_001720.1  probetacellulin isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001720.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB109441, AC116645, BX114471, S55606
    Consensus CDS
    CCDS3566.1
    UniProtKB/Swiss-Prot
    P35070
    UniProtKB/TrEMBL
    A0A0S2Z437
    Related
    ENSP00000379092.3, ENST00000395743.8
    Conserved Domains (1) summary
    PHA02887
    Location:50109
    PHA02887; EGF-like protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    74744759..74794718 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532211.1XP_011530513.1  probetacellulin isoform X1

    See identical proteins and their annotated locations for XP_011530513.1

    UniProtKB/Swiss-Prot
    P35070
    UniProtKB/TrEMBL
    A0A0S2Z437
    Conserved Domains (1) summary
    PHA02887
    Location:50109
    PHA02887; EGF-like protein; Provisional
  2. XM_017008568.1XP_016864057.1  probetacellulin isoform X2

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