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    TBC1D22A TBC1 domain family member 22A [ Homo sapiens (human) ]

    Gene ID: 25771, updated on 6-Jun-2024

    Summary

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    Official Symbol
    TBC1D22Aprovided by HGNC
    Official Full Name
    TBC1 domain family member 22Aprovided by HGNC
    Primary source
    HGNC:HGNC:1309
    See related
    Ensembl:ENSG00000054611 MIM:616879; AllianceGenome:HGNC:1309
    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
    C22orf4; HSC79E021
    Summary
    Enables 14-3-3 protein binding activity and protein homodimerization activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in spleen (RPKM 2.7), lymph node (RPKM 2.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D22A in Genome Data Viewer
    Location:
    22q13.31
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (46762650..47175699)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (47250621..47665617)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (47158547..47571342)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47131961-47132534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47134630-47135288 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:47150047-47150223 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:47157594-47158428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47164922-47165802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47165803-47166681 Neighboring gene ceramide kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47169536-47170051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19258 Neighboring gene TBC1D22A divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47169021-47169535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19259 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:47179260-47179426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47194214-47194714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47210780-47211732 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:47223143-47223301 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47298559-47299204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47304205-47305098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47305099-47305992 Neighboring gene TBC1D22A antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:47310467-47310968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:47310969-47311468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19266 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47330185-47331384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47331751-47332316 Neighboring gene uncharacterized LOC105369161 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47345253-47345850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47345851-47346446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47361678-47362356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47378875-47379375 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47389156-47389984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47395371-47395872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47395873-47396372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47411357-47411986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47411987-47412614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47424077-47424843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47426380-47426908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47426909-47427436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47427933-47428524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47441137-47441652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47442170-47442685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47447799-47448784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47448785-47449768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47451683-47452225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19268 Neighboring gene uncharacterized LOC124905141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47462501-47463001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47485844-47486817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47510887-47511388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47511389-47511888 Neighboring gene uncharacterized protein UNQ6126/PRO20091 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47519502-47520188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47521565-47522252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47522253-47522938 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47525234-47526433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47526945-47527808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47532865-47533804 Neighboring gene uncharacterized LOC124905140 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:47550202-47551401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47560499-47561076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47566897-47567396 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:47571494-47572693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47588168-47588668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47608371-47608872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47643595-47644094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47677397-47677897 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47724406-47725605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19269 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47765496-47766695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47771462-47771962 Neighboring gene uncharacterized LOC339685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47803821-47804321 Neighboring gene Sharpr-MPRA regulatory region 13395 Neighboring gene long intergenic non-protein coding RNA 1644

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Genome-wide linkage and regional association study of obesity-related phenotypes: the GenSalt study. Liu AY, et al. Obesity (Silver Spring), 2014 Feb. PMID 23526746, Free PMC Article
    2. First crystallographic models of human TBC domains in the context of a family-wide structural analysis. Tempel W, et al. Proteins, 2008 Apr. PMID 18186464
    3. ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding. Greninger AL, et al. mBio, 2013 Apr 9. PMID 23572552, Free PMC Article
    4. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. Collins JE, et al. Genome Res, 2003 Jan. PMID 12529303, Free PMC Article
    5. Joint influence of small-effect genetic variants on human longevity. Yashin AI, et al. Aging (Albany NY), 2010 Sep. PMID 20834067, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. genetic association studies in population in Han Chinese: Data suggest that SNPs in TBC1D22A (rs7755450 and rs11758293) are associated with body mass index in obese females; other SNPs in TBC1D22A are associated with body mass index in obese males.
      Title: Genome-wide linkage and regional association study of obesity-related phenotypes: the GenSalt study.
    2. Using affinity purification-mass spectrometry, we identified the putative Rab33 GTPase-activating proteins TBC1D22A and TBC1D22B as ACBD3-interacting factors.
      Title: ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. crystal structures of the first two mammalian TBCs, human TBC1 family members 22A (TBC1D22A) and 14 (TBC1D14)
      Title: First crystallographic models of human TBC domains in the context of a family-wide structural analysis.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Joint influence of small-effect genetic variants on human longevity.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 14-3-3 protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TBC1 domain family member 22A
    Names
    putative GTPase activator

    NCBI Reference Sequences (RefSeq)

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    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_001284303.2 → NP_001271232.1  TBC1 domain family member 22A isoform b

      See identical proteins and their annotated locations for NP_001271232.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
      Consensus CDS
      CCDS63511.1
      UniProtKB/TrEMBL
      B3KP29
      Related
      ENSP00000347932.3, ENST00000355704.7
      Conserved Domains (1) summary
      smart00164
      Location:141 → 391
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    2. NM_001284304.2 → NP_001271233.1  TBC1 domain family member 22A isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an additional exon in the 5' region, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
      Consensus CDS
      CCDS74877.1
      UniProtKB/TrEMBL
      A0A0A0MRY0, B2RE30, B3KP29
      Related
      ENSP00000370383.2, ENST00000380995.5
      Conserved Domains (1) summary
      smart00164
      Location:189 → 439
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    3. NM_001284305.2 → NP_001271234.1  TBC1 domain family member 22A isoform d

      See identical proteins and their annotated locations for NP_001271234.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
      Consensus CDS
      CCDS63512.1
      UniProtKB/TrEMBL
      B2RE30, B3KP29
      Related
      ENSP00000385634.1, ENST00000406733.1
      Conserved Domains (1) summary
      smart00164
      Location:172 → 422
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    4. NM_001410803.1 → NP_001397732.1  TBC1 domain family member 22A isoform e

      Status: VALIDATED

      Source sequence(s)
      AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
      Consensus CDS
      CCDS93180.1
      UniProtKB/TrEMBL
      B0QYI1, B3KP29
      Related
      ENSP00000384036.3, ENST00000407381.7

    5. NM_014346.5 → NP_055161.1  TBC1 domain family member 22A isoform a

      See identical proteins and their annotated locations for NP_055161.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
      Consensus CDS
      CCDS14078.1
      UniProtKB/Swiss-Prot
      B0QYI2, B0QYI3, B9A6M3, Q5TE47, Q6ZUH2, Q8WUA7, Q92680, Q9BVD6, Q9UGG0, Q9UGT2, Q9UGU6, Q9UH25, Q9Y4W5
      UniProtKB/TrEMBL
      B2RE30, B3KP29
      Related
      ENSP00000336724.4, ENST00000337137.9
      Conserved Domains (1) summary
      smart00164
      Location:219 → 469
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    RNA

    1. NR_104292.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK125705, AL118516, DB339610, FP325331

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      46762650..47175699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028742.3 → XP_016884231.1  TBC1 domain family member 22A isoform X2

      UniProtKB/TrEMBL
      B2RE30, B3KP29
      Conserved Domains (1) summary
      pfam00566
      Location:279 → 501
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. XM_047441306.1 → XP_047297262.1  TBC1 domain family member 22A isoform X1

      UniProtKB/TrEMBL
      B2RE30, B3KP29

    3. XM_017028743.3 → XP_016884232.1  TBC1 domain family member 22A isoform X3

      UniProtKB/TrEMBL
      B2RE30, B3KP29

    4. XM_011530100.4 → XP_011528402.1  TBC1 domain family member 22A isoform X5

      Conserved Domains (1) summary
      smart00164
      Location:219 → 400
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    5. XM_047441307.1 → XP_047297263.1  TBC1 domain family member 22A isoform X4

    6. XM_011530102.4 → XP_011528404.1  TBC1 domain family member 22A isoform X9

      Conserved Domains (1) summary
      smart00164
      Location:219 → 333
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    7. XM_047441308.1 → XP_047297264.1  TBC1 domain family member 22A isoform X9

    8. XM_047441309.1 → XP_047297265.1  TBC1 domain family member 22A isoform X10

    9. XM_017028746.3 → XP_016884235.1  TBC1 domain family member 22A isoform X6

    10. XM_011530101.4 → XP_011528403.1  TBC1 domain family member 22A isoform X7

      Conserved Domains (1) summary
      smart00164
      Location:219 → 372
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    11. XM_017028747.3 → XP_016884236.1  TBC1 domain family member 22A isoform X8

    RNA

    1. XR_007067971.1 RNA Sequence

    2. XR_007067970.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      47250621..47665617
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325466.1 → XP_054181441.1  TBC1 domain family member 22A isoform X2

      UniProtKB/TrEMBL
      B2RE30, B3KP29

    2. XM_054325465.1 → XP_054181440.1  TBC1 domain family member 22A isoform X1

      UniProtKB/TrEMBL
      B2RE30, B3KP29

    3. XM_054325467.1 → XP_054181442.1  TBC1 domain family member 22A isoform X3

      UniProtKB/TrEMBL
      B2RE30, B3KP29

    4. XM_054325469.1 → XP_054181444.1  TBC1 domain family member 22A isoform X5

    5. XM_054325468.1 → XP_054181443.1  TBC1 domain family member 22A isoform X4

    6. XM_054325475.1 → XP_054181450.1  TBC1 domain family member 22A isoform X9

    7. XM_054325474.1 → XP_054181449.1  TBC1 domain family member 22A isoform X9

    8. XM_054325476.1 → XP_054181451.1  TBC1 domain family member 22A isoform X10

    9. XM_054325470.1 → XP_054181445.1  TBC1 domain family member 22A isoform X6

    10. XM_054325471.1 → XP_054181446.1  TBC1 domain family member 22A isoform X7

    11. XM_054325473.1 → XP_054181448.1  TBC1 domain family member 22A isoform X8

    12. XM_054325472.1 → XP_054181447.1  TBC1 domain family member 22A isoform X11

    RNA

    1. XR_008485383.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUA7.2 GenPept UniProtKB/Swiss-Prot:Q8WUA7

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