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BTC betacellulin [ Homo sapiens (human) ]

Gene ID: 685, updated on 10-Dec-2024

Summary

Official Symbol
BTCprovided by HGNC
Official Full Name
betacellulinprovided by HGNC
Primary source
HGNC:HGNC:1121
See related
Ensembl:ENSG00000174808 MIM:600345; AllianceGenome:HGNC:1121
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
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Genomic context

See BTC in Genome Data Viewer
Location:
4q13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (74744759..74794523, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (78084851..78134624, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (75669969..75719733, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5058 silencer Neighboring gene amphiregulin Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:75368878-75370077 Neighboring gene Sharpr-MPRA regulatory regions 3589 and 13401 Neighboring gene uncharacterized LOC107986229 Neighboring gene uncharacterized LOC124900716 Neighboring gene Sharpr-MPRA regulatory region 14582 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:75579177-75580376 Neighboring gene Sharpr-MPRA regulatory region 10751 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:75584575-75585774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15478 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

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 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 
Component Evidence Code Pubs
located_in clathrin-coated 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 plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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_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/TrEMBL
    A0A0S2Z3I5, H0Y8Q5
    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, Q96F48
    UniProtKB/TrEMBL
    A0A0S2Z437
    Related
    ENSP00000379092.3, ENST00000395743.8
    Conserved Domains (1) summary
    PHA02887
    Location:50109
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    74744759..74794523 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416103.1XP_047272059.1  probetacellulin isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z3I5, H0Y8Q5
  2. XM_011532211.2XP_011530513.1  probetacellulin isoform X1

    See identical proteins and their annotated locations for XP_011530513.1

    UniProtKB/Swiss-Prot
    P35070, Q96F48
    UniProtKB/TrEMBL
    A0A0S2Z437
    Conserved Domains (1) summary
    PHA02887
    Location:50109
    PHA02887; EGF-like protein; Provisional
  3. XM_017008568.2XP_016864057.1  probetacellulin isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    78084851..78134624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350761.1XP_054206736.1  probetacellulin isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z3I5, H0Y8Q5
  2. XM_054350760.1XP_054206735.1  probetacellulin isoform X1

  3. XM_054350762.1XP_054206737.1  probetacellulin isoform X3