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

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. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward testis (RPKM 9.5) See more
Orthologs: mouse all
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Genomic context

Location:: 6q27

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (167325086..167342688)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (168707721..168725329)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (167738574..167756176)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Characterization of another human tubulin tyrosine ligase-like gene family member
Title: Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91835 (e-PCR)
- UniSTS:89696

SHGC-89287 (e-PCR)
- UniSTS:104925

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
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

Component	Evidence Code	Pubs
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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.