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BOC BOC cell adhesion associated, oncogene regulated [ Homo sapiens (human) ]

Gene ID: 91653, updated on 13-Mar-2020

Summary

Official Symbol
BOCprovided by HGNC
Official Full Name
BOC cell adhesion associated, oncogene regulatedprovided by HGNC
Primary source
HGNC:HGNC:17173
See related
Ensembl:ENSG00000144857 MIM:608708
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
CDON2
Summary
The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
Expression
Broad expression in skin (RPKM 11.2), prostate (RPKM 10.0) and 23 other tissues See more
Orthologs

Genomic context

See BOC in Genome Data Viewer
Location:
3q13.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (113211003..113287463)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112929850..113006306)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986114 Neighboring gene VISTA enhancer hs1685 Neighboring gene uncharacterized LOC102723430 Neighboring gene long intergenic non-protein coding RNA 2044 Neighboring gene cilia and flagella associated protein 44 Neighboring gene Rab geranylgeranyltransferase subunit beta pseudogene Neighboring gene PHD finger protein 5D pseudogene Neighboring gene CFAP44 antisense RNA 1 Neighboring gene microRNA 8076

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association scan of dental caries in the permanent dentition.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axon guidance IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of muscle cell differentiation TAS
Traceable Author Statement
more info
 
positive regulation of myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axonal growth cone IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
brother of CDO
Names
Boc homolog
brother of CDON
cell adhesion associated, oncogene regulated 2

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_001301861.2NP_001288790.1  brother of CDO isoform 1 precursor

    See identical proteins and their annotated locations for NP_001288790.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA716090, AC026329, AK074556, AY027658, AY358328, BC075829, DA247804, DB349011
    Consensus CDS
    CCDS77788.1
    UniProtKB/Swiss-Prot
    Q9BWV1
    Related
    ENSP00000273395.4, ENST00000273395.8
    Conserved Domains (7) summary
    smart00408
    Location:245306
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:486559
    FN3; Fibronectin type 3 domain
    smart00410
    Location:137212
    IG_like; Immunoglobulin like
    cd00063
    Location:607698
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:323406
    I-set; Immunoglobulin I-set domain
    pfam16625
    Location:409473
    ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
    cl11960
    Location:143204
    Ig; Immunoglobulin domain
  2. NM_001301867.2NP_001288796.1  brother of CDO isoform 3 precursor

    See identical proteins and their annotated locations for NP_001288796.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC026329, AK056359, BC034614, BC075829, DA721979
    Consensus CDS
    CCDS77789.1
    UniProtKB/TrEMBL
    Q96DN7
    Related
    ENSP00000420154.1, ENST00000485230.5
    Conserved Domains (1) summary
    pfam13927
    Location:36109
    Ig_3; Immunoglobulin domain
  3. NM_001378073.1NP_001365002.1  brother of CDO isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC026329
  4. NM_001378074.1NP_001365003.1  brother of CDO isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC026329
  5. NM_001378075.1NP_001365004.1  brother of CDO isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC026329
  6. NM_033254.4NP_150279.1  brother of CDO isoform 2 precursor

    See identical proteins and their annotated locations for NP_150279.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AA716090, AK074556, AY027658, AY358328, BC075829, DA721979, DB349011
    Consensus CDS
    CCDS2971.1
    UniProtKB/Swiss-Prot
    Q9BWV1
    Related
    ENSP00000418663.1, ENST00000495514.5
    Conserved Domains (7) summary
    smart00408
    Location:245306
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:137212
    IG_like; Immunoglobulin like
    cd00063
    Location:606697
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:323406
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:486559
    fn3; Fibronectin type III domain
    pfam16625
    Location:409473
    ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
    cl11960
    Location:143204
    Ig; Immunoglobulin 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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    113211003..113287463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007446.1XP_016862935.1  brother of CDO isoform X1

  2. XM_017007448.1XP_016862937.1  brother of CDO isoform X1

  3. XM_017007454.2XP_016862943.1  brother of CDO isoform X8

    Conserved Domains (6) summary
    cd00063
    Location:431522
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:310384
    fn3; Fibronectin type III domain
    pfam13927
    Location:51124
    Ig_3; Immunoglobulin domain
    pfam16625
    Location:235297
    ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
    cl11960
    Location:125
    Ig; Immunoglobulin domain
    cl28434
    Location:144227
    I-set; Immunoglobulin I-set domain
  4. XM_017007441.2XP_016862930.1  brother of CDO isoform X1

  5. XM_017007450.2XP_016862939.1  brother of CDO isoform X2

  6. XM_011513305.3XP_011511607.1  brother of CDO isoform X4

    See identical proteins and their annotated locations for XP_011511607.1

    UniProtKB/Swiss-Prot
    Q9BWV1
    Related
    ENSP00000347546.3, ENST00000355385.7
    Conserved Domains (7) summary
    smart00408
    Location:245306
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:137212
    IG_like; Immunoglobulin like
    cd00063
    Location:606697
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:323406
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:486559
    fn3; Fibronectin type III domain
    pfam16625
    Location:409473
    ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
    cl11960
    Location:143204
    Ig; Immunoglobulin domain
  7. XM_005247897.3XP_005247954.1  brother of CDO isoform X5

    Conserved Domains (7) summary
    smart00408
    Location:245306
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:395468
    FN3; Fibronectin type 3 domain
    smart00410
    Location:137212
    IG_like; Immunoglobulin like
    cd00063
    Location:516607
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:36125
    I-set; Immunoglobulin I-set domain
    pfam16625
    Location:321382
    ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
    cl11960
    Location:143204
    Ig; Immunoglobulin domain
  8. XM_017007442.2XP_016862931.1  brother of CDO isoform X1

  9. XM_024453818.1XP_024309586.1  brother of CDO isoform X7

    Conserved Domains (6) summary
    cd00063
    Location:610701
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:489563
    fn3; Fibronectin type III domain
    pfam13927
    Location:230303
    Ig_3; Immunoglobulin domain
    pfam16625
    Location:414476
    ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
    cl11960
    Location:143204
    Ig; Immunoglobulin domain
    cl28434
    Location:323406
    I-set; Immunoglobulin I-set domain
  10. XM_017007443.1XP_016862932.1  brother of CDO isoform X1

  11. XM_017007445.1XP_016862934.1  brother of CDO isoform X1

  12. XM_017007447.1XP_016862936.1  brother of CDO isoform X1

  13. XM_017007452.1XP_016862941.1  brother of CDO isoform X6

  14. XM_017007453.1XP_016862942.1  brother of CDO isoform X6

  15. XM_017007449.1XP_016862938.1  brother of CDO isoform X1

  16. XM_017007455.1XP_016862944.1  brother of CDO isoform X9

    UniProtKB/TrEMBL
    Q96DN7
    Related
    ENSP00000417337.1, ENST00000484034.1
    Conserved Domains (1) summary
    pfam13927
    Location:36109
    Ig_3; Immunoglobulin domain
  17. XM_017007444.1XP_016862933.1  brother of CDO isoform X1

  18. XM_024453819.1XP_024309587.1  brother of CDO isoform X8

    Conserved Domains (6) summary
    cd00063
    Location:431522
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:310384
    fn3; Fibronectin type III domain
    pfam13927
    Location:51124
    Ig_3; Immunoglobulin domain
    pfam16625
    Location:235297
    ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
    cl11960
    Location:125
    Ig; Immunoglobulin domain
    cl28434
    Location:144227
    I-set; Immunoglobulin I-set domain

RNA

  1. XR_001740359.2 RNA Sequence

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