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RUNDC3B RUN domain containing 3B [ Homo sapiens (human) ]

Gene ID: 154661, updated on 5-Aug-2022

Summary

Official Symbol
RUNDC3Bprovided by HGNC
Official Full Name
RUN domain containing 3Bprovided by HGNC
Primary source
HGNC:HGNC:30286
See related
Ensembl:ENSG00000105784 MIM:617295; AllianceGenome:HGNC:30286
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
RPIB9; RPIP9
Expression
Broad expression in adrenal (RPKM 7.8), brain (RPKM 4.9) and 16 other tissues See more
Orthologs
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Genomic context

See RUNDC3B in Genome Data Viewer
Location:
7q21.12
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (87628398..87832296)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (88878278..89082221)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (87257714..87461611)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 Neighboring gene ATP binding cassette subfamily B member 1 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 13989 Neighboring gene solute carrier family 25 member 40 Neighboring gene origin of replication in promoter of DBF4 Neighboring gene DBF4 zinc finger

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

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30671, MGC26655

General protein information

Preferred Names
RUN domain-containing protein 3B
Names
Rap2 binding protein 9
Rap2-interacting protein 9
rap2-binding protein 9

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_001134405.2NP_001127877.1  RUN domain-containing protein 3B isoform b

    See identical proteins and their annotated locations for NP_001127877.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC002457, AC003083, AK055233, AK294039
    Consensus CDS
    CCDS47635.1
    UniProtKB/Swiss-Prot
    Q96NL0
    Related
    ENSP00000378149.3, ENST00000394654.4
    Conserved Domains (2) summary
    TIGR00618
    Location:250395
    sbcc; exonuclease SbcC
    pfam02759
    Location:65186
    RUN; RUN domain
  2. NM_001134406.2NP_001127878.1  RUN domain-containing protein 3B isoform c

    See identical proteins and their annotated locations for NP_001127878.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC002457, AC003083, AK055233, AK294039, BC022520
    Consensus CDS
    CCDS47636.1
    UniProtKB/Swiss-Prot
    Q96NL0
    Related
    ENSP00000420394.1, ENST00000493037.5
    Conserved Domains (1) summary
    pfam02759
    Location:65186
    RUN; RUN domain
  3. NM_001394224.1NP_001381153.1  RUN domain-containing protein 3B isoform d

    Status: VALIDATED

    Source sequence(s)
    AC002457, AC003083
    Conserved Domains (1) summary
    pfam02759
    Location:65203
    RUN; RUN domain
  4. NM_001394225.1NP_001381154.1  RUN domain-containing protein 3B isoform e

    Status: VALIDATED

    Source sequence(s)
    AC002457, AC003083
    Conserved Domains (2) summary
    TIGR00618
    Location:249394
    sbcc; exonuclease SbcC
    smart00593
    Location:125186
    RUN; domain involved in Ras-like GTPase signaling
  5. NM_001394226.1NP_001381155.1  RUN domain-containing protein 3B isoform f

    Status: VALIDATED

    Source sequence(s)
    AC002457, AC003083
    Conserved Domains (1) summary
    pfam02759
    Location:65186
    RUN; RUN domain
  6. NM_001394227.1NP_001381156.1  RUN domain-containing protein 3B isoform g

    Status: VALIDATED

    Source sequence(s)
    AC002457, AC003083
    Conserved Domains (1) summary
    pfam02759
    Location:65203
    RUN; RUN domain
  7. NM_001394228.1NP_001381157.1  RUN domain-containing protein 3B isoform h

    Status: VALIDATED

    Source sequence(s)
    AC002457, AC003083
    Conserved Domains (1) summary
    pfam02759
    Location:172
    RUN; RUN domain
  8. NM_138290.3NP_612147.1  RUN domain-containing protein 3B isoform a

    See identical proteins and their annotated locations for NP_612147.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC002457, AC003083, AK055233, DC304423
    Consensus CDS
    CCDS5609.1
    UniProtKB/Swiss-Prot
    Q8TBG7, Q96NL0
    Related
    ENSP00000337732.3, ENST00000338056.7
    Conserved Domains (1) summary
    pfam02759
    Location:65203
    RUN; RUN domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    87628398..87832296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    88878278..89082221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)