U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TBC1D9B TBC1 domain family member 9B [ Homo sapiens (human) ]

Gene ID: 23061, updated on 3-May-2025
Official Symbol
TBC1D9Bprovided by HGNC
Official Full Name
TBC1 domain family member 9Bprovided by HGNC
Primary source
HGNC:HGNC:29097
See related
Ensembl:ENSG00000197226 MIM:618039; AllianceGenome:HGNC:29097
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
GRAMD9B
Summary
Predicted to enable GTPase activator activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, May 2025]
Expression
Ubiquitous expression in fat (RPKM 32.0), thyroid (RPKM 25.0) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table
See TBC1D9B in Genome Data Viewer
Location:
5q35.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (179862071..179907897, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (180417215..180462876, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (179289071..179334897, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr5:179278643-179278802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23765 Neighboring gene RN7SK pseudogene 150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16752 Neighboring gene MRN complex interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179294147-179294673 Neighboring gene MRNIP divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:179302124-179303323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179320466-179320966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179320967-179321467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179329571-179330070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179333851-179334628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179344075-179344992 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:179352751-179353251 Neighboring gene ring finger protein 130 Neighboring gene dnaJ homolog subfamily B member 6-like Neighboring gene ribosomal protein S15a pseudogene 18

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Interaction of TBC1D9B with Mammalian ATG8 Homologues Regulates Autophagic Flux. Liao Y, et al. Sci Rep, 2018 Sep 10. PMID 30202024, Free PMC Article
  2. Rab GTPase-activating proteins in autophagy: regulation of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. Popovic D, et al. Mol Cell Biol, 2012 May. PMID 22354992, Free PMC Article
  3. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. Ishibashi K, et al. Genes Cells, 2009 Jan. PMID 19077034
  4. Functional dissection of Rab GTPases involved in primary cilium formation. Yoshimura S, et al. J Cell Biol, 2007 Jul 30. PMID 17646400, Free PMC Article
  5. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Ishikawa K, et al. DNA Res, 1998 Jun 30. PMID 9734811

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41880, KIAA0676, MGC157757

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
NOT involved_in regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
TBC1 domain family member 9B
Names
TBC1 domain family, member 9B (with GRAM domain)

NEW Try the new Transcript table

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_015043.4 → NP_055858.2  TBC1 domain family member 9B isoform b

    See identical proteins and their annotated locations for NP_055858.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame coding 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)
    AC008393, AC010285
    Consensus CDS
    CCDS4450.1
    UniProtKB/TrEMBL
    A1L3A9
    Related
    ENSP00000347375.3, ENST00000355235.8
    Conserved Domains (4) summary
    smart00164
    Location:505 → 715
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13354
    Location:299 → 394
    PH-GRAM2_TCB1D9_TCB1D9B; TBC1 domain family members 9 and 9B (TBC1D9 and TBC1D9B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13351
    Location:153 → 251
    PH-GRAM1_TCB1D9_TCB1D9B; TBC1 domain family members 9 and 9B (TBC1D9 and TBC1D9B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
    cl08302
    Location:855 → 906
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

  2. NM_198868.3 → NP_942568.2  TBC1 domain family member 9B isoform a

    See identical proteins and their annotated locations for NP_942568.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC008393, AC010285
    Consensus CDS
    CCDS43408.1
    UniProtKB/Swiss-Prot
    D3DWQ5, D3DWQ6, O75163, Q53EY0, Q66K14, Q6MZI2, Q96H49
    UniProtKB/TrEMBL
    B9A6K8
    Related
    ENSP00000349291.3, ENST00000356834.7
    Conserved Domains (4) summary
    smart00164
    Location:505 → 715
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13354
    Location:299 → 394
    PH-GRAM2_TCB1D9_TCB1D9B; TBC1 domain family members 9 and 9B (TBC1D9 and TBC1D9B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13351
    Location:153 → 251
    PH-GRAM1_TCB1D9_TCB1D9B; TBC1 domain family members 9 and 9B (TBC1D9 and TBC1D9B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
    cl08302
    Location:855 → 906
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    179862071..179907897 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107298.1 Reference GRCh38.p14 PATCHES

    Range
    627631..670372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    180417215..180462876 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q66K14.3 GenPept UniProtKB/Swiss-Prot:Q66K14

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools