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TPGS2 tubulin polyglutamylase complex subunit 2 [ Homo sapiens (human) ]

Gene ID: 25941, updated on 15-Jun-2019

Summary

Official Symbol
TPGS2provided by HGNC
Official Full Name
tubulin polyglutamylase complex subunit 2provided by HGNC
Primary source
HGNC:HGNC:24561
See related
Ensembl:ENSG00000134779
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
L17; PGs2; C18orf10; HMFN0601
Summary
This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
Expression
Broad expression in testis (RPKM 16.4), brain (RPKM 5.6) and 24 other tissues See more
Orthologs

Genomic context

See TPGS2 in Genome Data Viewer
Location:
18q12.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (36777647..36829216, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (34359513..34409179, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene WDR45-like pseudogene Neighboring gene formin homology 2 domain containing 3 Neighboring gene uncharacterized LOC105372071 Neighboring gene KIAA1328 Neighboring gene uncharacterized LOC105372069 Neighboring gene VISTA enhancer hs590

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586M1523

Gene Ontology Provided by GOA

Process Evidence Code Pubs
protein polyglutamylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
tubulin polyglutamylase complex subunit 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_001271949.1NP_001258878.1  tubulin polyglutamylase complex subunit 2 isoform 2

    See identical proteins and their annotated locations for NP_001258878.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AC009854, AC090333, AK295817, BG723541, BU627145, BX107606
    Consensus CDS
    CCDS62422.1
    UniProtKB/Swiss-Prot
    Q68CL5
    Related
    ENSP00000467392.1, ENST00000593035.5
    Conserved Domains (1) summary
    smart00860
    Location:44157
    SMI1_KNR4; SMI1 / KNR4 family
  2. NM_001271950.1NP_001258879.1  tubulin polyglutamylase complex subunit 2 isoform 3

    See identical proteins and their annotated locations for NP_001258879.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region compared to variant 1. It encodes isoform 3 which is shorter than isoform 1.
    Source sequence(s)
    AB073382, AC009854, AC090333, BG723541, BU627145, BX107606
    Consensus CDS
    CCDS62421.1
    UniProtKB/Swiss-Prot
    Q68CL5
    Related
    ENSP00000372530.2, ENST00000383056.7
    Conserved Domains (1) summary
    smart00860
    Location:44149
    SMI1_KNR4; SMI1 / KNR4 family
  3. NM_001271951.1NP_001258880.1  tubulin polyglutamylase complex subunit 2 isoform 4

    See identical proteins and their annotated locations for NP_001258880.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 3' terminal exon compared to variant 1. It encodes isoform 4 which has a distinct and longer C-terminus compared to isoform 1.
    Source sequence(s)
    AC009854, AC090333, AW206050, BG420782, BG723541, BQ670058
    Consensus CDS
    CCDS62424.1
    UniProtKB/Swiss-Prot
    Q68CL5
    Related
    ENSP00000464780.1, ENST00000590842.5
    Conserved Domains (1) summary
    smart00860
    Location:44192
    SMI1_KNR4; SMI1 / KNR4 family
  4. NM_001271952.1NP_001258881.1  tubulin polyglutamylase complex subunit 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in the 5' coding region compared to variant 1 and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR. These differences cause translation initiation at a downstream AUG and result in an isoform (5) which has a shorter N-terminus and a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC009854, BC022199, BG723541, CX783476
    UniProtKB/Swiss-Prot
    Q68CL5
    Conserved Domains (1) summary
    smart00860
    Location:2144
    SMI1_KNR4; SMI1 / KNR4 family
  5. NM_001271953.2NP_001258882.1  tubulin polyglutamylase complex subunit 2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate 3' terminal exon compared to variant 1. It encodes isoform 6 which has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA677381, AC009854, AC090333, BU543495, CA425930
    Related
    ENSP00000468292.1, ENST00000591906.5
    Conserved Domains (1) summary
    smart00860
    Location:44192
    SMI1_KNR4; SMI1 / KNR4 family
  6. NM_001271954.1NP_001258883.1  tubulin polyglutamylase complex subunit 2 isoform 7

    See identical proteins and their annotated locations for NP_001258883.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 3' coding region and the 3' UTR; its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 7 which has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC009854, BC022199, BG723541
    Consensus CDS
    CCDS62423.1
    UniProtKB/Swiss-Prot
    Q68CL5
    Related
    ENSP00000466973.1, ENST00000589049.5
    Conserved Domains (1) summary
    smart00860
    Location:44192
    SMI1_KNR4; SMI1 / KNR4 family
  7. NM_001271955.1NP_001258884.1  tubulin polyglutamylase complex subunit 2 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks three alternate exons in the 3' coding region and contains an alternate 3' terminal exon compared to variant 1. It encodes isoform 8 which has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC009854, AC090333, AW206050, BG420782, BG723541
    Consensus CDS
    CCDS74214.1
    UniProtKB/TrEMBL
    A0A087X1R7
    Related
    ENSP00000484407.1, ENST00000610723.4
    Conserved Domains (1) summary
    smart00860
    Location:4484
    SMI1_KNR4; SMI1 / KNR4 family
  8. NM_001271956.1NP_001258885.1  tubulin polyglutamylase complex subunit 2 isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) contains an alternate 3' terminal exon compared to variant 1. It encodes isoform 9 which has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC009854, AC090333, BG723541, BM796279, DA512668
    Consensus CDS
    CCDS74215.1
    UniProtKB/TrEMBL
    A0A087WUC8
    Related
    ENSP00000478553.1, ENST00000614939.4
    Conserved Domains (1) summary
    smart00860
    Location:44192
    SMI1_KNR4; SMI1 / KNR4 family
  9. NM_001330572.2NP_001317501.1  tubulin polyglutamylase complex subunit 2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC009854, AC090333
    Consensus CDS
    CCDS82248.1
    UniProtKB/TrEMBL
    K7EKC0
    Related
    ENSP00000465551.1, ENST00000587129.5
  10. NM_015476.4NP_056291.2  tubulin polyglutamylase complex subunit 2 isoform 1

    See identical proteins and their annotated locations for NP_056291.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AC009854, AC090333, BC015178, BX107606
    Consensus CDS
    CCDS32817.1
    UniProtKB/Swiss-Prot
    Q68CL5
    Related
    ENSP00000335144.3, ENST00000334295.9
    Conserved Domains (1) summary
    smart00860
    Location:44192
    SMI1_KNR4; SMI1 / KNR4 family

RefSeqs of Annotated Genomes: Homo sapiens 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_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    36777647..36829216 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025702.2XP_016881191.1  tubulin polyglutamylase complex subunit 2 isoform X5

  2. XM_017025703.2XP_016881192.1  tubulin polyglutamylase complex subunit 2 isoform X6

    Conserved Domains (1) summary
    smart00860
    Location:2144
    SMI1_KNR4; SMI1 / KNR4 family
  3. XM_017025701.2XP_016881190.1  tubulin polyglutamylase complex subunit 2 isoform X4

    Conserved Domains (1) summary
    smart00860
    Location:44192
    SMI1_KNR4; SMI1 / KNR4 family
  4. XM_011525917.3XP_011524219.1  tubulin polyglutamylase complex subunit 2 isoform X2

    Conserved Domains (1) summary
    smart00860
    Location:2144
    SMI1_KNR4; SMI1 / KNR4 family
  5. XM_005258242.4XP_005258299.1  tubulin polyglutamylase complex subunit 2 isoform X1

    Conserved Domains (1) summary
    smart00860
    Location:44149
    SMI1_KNR4; SMI1 / KNR4 family
  6. XM_017025699.2XP_016881188.1  tubulin polyglutamylase complex subunit 2 isoform X3

    Conserved Domains (1) summary
    smart00860
    Location:2144
    SMI1_KNR4; SMI1 / KNR4 family

RNA

  1. XR_001753180.2 RNA Sequence

  2. XR_001753181.2 RNA Sequence

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