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TTLL2 tubulin tyrosine ligase like 2 [ Homo sapiens (human) ]

Gene ID: 83887, updated on 23-Nov-2023

Summary

Official Symbol
TTLL2provided by HGNC
Official Full Name
tubulin tyrosine ligase like 2provided by HGNC
Primary source
HGNC:HGNC:21211
See related
Ensembl:ENSG00000120440 AllianceGenome:HGNC:21211
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
C6orf104; NYD-TSPG; dJ366N23.3
Summary
Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization and protein polyglutamylation. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 9.5) See more
Orthologs
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Genomic context

See TTLL2 in Genome Data Viewer
Location:
6q27
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (167325086..167342688)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (168707721..168725329)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (167738574..167756176)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102725048 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:167658429-167659398 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:167681138-167682337 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:167693405-167693918 Neighboring gene unc-93 homolog A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167694745-167695246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167695247-167695746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:167701027-167701535 Neighboring gene Sharpr-MPRA regulatory region 7476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167707065-167707966 Neighboring gene Sharpr-MPRA regulatory region 10682 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:167727314-167728288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167730158-167730953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167738113-167738614 Neighboring gene mitotic arrest deficient 2 like 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 6086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:167769573-167770114 Neighboring gene t-complex 10 like 3 (pseudogene)

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

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables tubulin-glutamic acid ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein modification process IEA
Inferred from Electronic Annotation
more info
 
involved_in protein polyglutamylation IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
probable tubulin polyglutamylase TTLL2
Names
testis-specific protein NYD-TSPG
tubulin tyrosine ligase-like family, member 2
tubulin--tyrosine ligase-like protein 2

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_001410948.1NP_001397877.1  probable tubulin polyglutamylase TTLL2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL021331
    Consensus CDS
    CCDS94032.1
    UniProtKB/TrEMBL
    A0A3B3IRU1, B4DX04
    Related
    ENSP00000497040.1, ENST00000649884.1
  2. NM_031949.5NP_114155.4  probable tubulin polyglutamylase TTLL2 isoform 1

    See identical proteins and their annotated locations for NP_114155.4

    Status: VALIDATED

    Source sequence(s)
    AK093039, AL021331
    Consensus CDS
    CCDS5301.1
    UniProtKB/Swiss-Prot
    B2RB11, B3KS77, Q7Z6R8, Q86X22, Q9BWV7
    UniProtKB/TrEMBL
    B4DX04
    Related
    ENSP00000239587.5, ENST00000239587.10
    Conserved Domains (1) summary
    pfam03133
    Location:140412
    TTL; Tubulin-tyrosine ligase family

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    167325086..167342688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    168707721..168725329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)