BBX BBX high mobility group box domain containing [Homo sapiens (human)] - Gene

Summary

Official Symbol: BBXprovided by HGNC
Official Full Name: BBX high mobility group box domain containingprovided by HGNC
Primary source: HGNC:HGNC:14422
See related: Ensembl:ENSG00000114439 AllianceGenome:HGNC:14422
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: HBP2; ARTC1; MDS001; HSPC339
Summary: Enables 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 bone development. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 26.5), thyroid (RPKM 14.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.12

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (107522962..107811339)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (110242748..110531095)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (107241809..107530186)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide and candidate gene association study of cigarette smoking behaviors. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G63088 (e-PCR)
- UniSTS:140063

RH123097 (e-PCR)
- UniSTS:135477

D3S2308 (e-PCR)
- UniSTS:149070

BBX (e-PCR)
- UniSTS:278098

WI-16360 (e-PCR)
- UniSTS:73561

SHGC-77195 (e-PCR)
- UniSTS:77159

D3S3499 (e-PCR)
- UniSTS:154216

STS-N31990 (e-PCR)
- UniSTS:79213

SHGC-58059 (e-PCR)
- UniSTS:52849

D3S4229 (e-PCR)
- UniSTS:82586

WI-16426 (e-PCR)
- UniSTS:83369

WI-17954 (e-PCR)
- UniSTS:3253

D3S3099 (e-PCR)
- UniSTS:5813

D3S2443 (e-PCR)
- UniSTS:14279

SHGC-144489 (e-PCR)
- UniSTS:172269

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bone development	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: HMG box transcription factor BBX

Names: Ag recognized by Treg cells 1; BBX, HMG-box containing; HMG box-containing protein 2; bobby sox homolog; x 001 protein

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)

NM_001142568.3 → NP_001136040.1 HMG box transcription factor BBX isoform 1

See identical proteins and their annotated locations for NP_001136040.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC072044, AC117477, AI168295, AK291757, AW131333, DA218136

Consensus CDS

CCDS46881.1

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Related

ENSP00000319974.8, ENST00000325805.13

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
NM_001276286.2 → NP_001263215.1 HMG box transcription factor BBX isoform 3

See identical proteins and their annotated locations for NP_001263215.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the coding region, which results in a frameshift, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC117477, AI168295, AW131333, BC131718, DA218136

Consensus CDS

CCDS63712.1

UniProtKB/Swiss-Prot

Q8WY36

Related

ENSP00000403860.2, ENST00000416476.6

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 303

DUF2028; Domain of unknown function (DUF2028)
NM_020235.7 → NP_064620.2 HMG box transcription factor BBX isoform 2

See identical proteins and their annotated locations for NP_064620.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

AC117477, AF454941, AI168295, AW131333

Consensus CDS

CCDS2950.1

UniProtKB/TrEMBL

C9JA69

Related

ENSP00000408358.2, ENST00000415149.6

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

107522962..107811339

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024453646.2 → XP_024309414.1 HMG box transcription factor BBX isoform X3

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_011513001.3 → XP_011511303.1 HMG box transcription factor BBX isoform X3

See identical proteins and their annotated locations for XP_011511303.1

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_047448599.1 → XP_047304555.1 HMG box transcription factor BBX isoform X8

Related

ENSP00000385530.1, ENST00000406780.5
XM_005247644.5 → XP_005247701.1 HMG box transcription factor BBX isoform X3

See identical proteins and their annotated locations for XP_005247701.1

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_024453648.2 → XP_024309416.1 HMG box transcription factor BBX isoform X3

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_024453647.2 → XP_024309415.1 HMG box transcription factor BBX isoform X3

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_005247642.5 → XP_005247699.1 HMG box transcription factor BBX isoform X3

See identical proteins and their annotated locations for XP_005247699.1

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_005247643.5 → XP_005247700.1 HMG box transcription factor BBX isoform X3

See identical proteins and their annotated locations for XP_005247700.1

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_024453653.2 → XP_024309421.1 HMG box transcription factor BBX isoform X3

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_047448597.1 → XP_047304553.1 HMG box transcription factor BBX isoform X3

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6
XM_024453651.2 → XP_024309419.1 HMG box transcription factor BBX isoform X3

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_024453649.2 → XP_024309417.1 HMG box transcription factor BBX isoform X3

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_011513000.3 → XP_011511302.1 HMG box transcription factor BBX isoform X3

See identical proteins and their annotated locations for XP_011511302.1

UniProtKB/Swiss-Prot

A2RRM7, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:79 → 150

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam09667
Location:191 → 323

DUF2028; Domain of unknown function (DUF2028)
XM_047448598.1 → XP_047304554.1 HMG box transcription factor BBX isoform X5
XM_047448600.1 → XP_047304556.1 HMG box transcription factor BBX isoform X10
XM_024453663.2 → XP_024309431.1 HMG box transcription factor BBX isoform X12

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 315

DUF2028; Domain of unknown function (DUF2028)
XM_024453645.2 → XP_024309413.1 HMG box transcription factor BBX isoform X2

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 335

DUF2028; Domain of unknown function (DUF2028)
XM_024453664.2 → XP_024309432.1 HMG box transcription factor BBX isoform X13

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 315

DUF2028; Domain of unknown function (DUF2028)
XM_024453656.2 → XP_024309424.1 HMG box transcription factor BBX isoform X4

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 335

DUF2028; Domain of unknown function (DUF2028)
XM_024453658.2 → XP_024309426.1 HMG box transcription factor BBX isoform X7

UniProtKB/TrEMBL

C9JA69

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 335

DUF2028; Domain of unknown function (DUF2028)
XM_024453667.2 → XP_024309435.1 HMG box transcription factor BBX isoform X15

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 315

DUF2028; Domain of unknown function (DUF2028)
XM_024453661.2 → XP_024309429.1 HMG box transcription factor BBX isoform X9

UniProtKB/TrEMBL

C9JA69

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 335

DUF2028; Domain of unknown function (DUF2028)
XM_024453644.2 → XP_024309412.1 HMG box transcription factor BBX isoform X1

UniProtKB/TrEMBL

A8K6U2

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 335

DUF2028; Domain of unknown function (DUF2028)
XM_024453657.2 → XP_024309425.1 HMG box transcription factor BBX isoform X6

UniProtKB/TrEMBL

C9JA69

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 335

DUF2028; Domain of unknown function (DUF2028)
XM_024453662.2 → XP_024309430.1 HMG box transcription factor BBX isoform X11

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 315

DUF2028; Domain of unknown function (DUF2028)
XM_024453665.2 → XP_024309433.1 HMG box transcription factor BBX isoform X14

Conserved Domains (2) summary

cd01388
Location:91 → 162

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam09667
Location:203 → 315

DUF2028; Domain of unknown function (DUF2028)