TRAK2 trafficking kinesin protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRAK2provided by HGNC
Official Full Name: trafficking kinesin protein 2provided by HGNC
Primary source: HGNC:HGNC:13206
See related: Ensembl:ENSG00000115993 MIM:607334; AllianceGenome:HGNC:13206
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: GRIF1; MILT2; OIP98; CALS-C; GRIF-1; ALS2CR3
Summary: Predicted to enable GABA receptor binding activity and myosin binding activity. Predicted to be involved in several processes, including mitochondrion distribution; organelle transport along microtubule; and protein O-linked glycosylation. Predicted to be located in cytoplasm; nucleus; and plasma membrane. Predicted to be active in cytoplasmic vesicle; dendrite; and mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in heart (RPKM 26.1), thyroid (RPKM 23.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q33.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (201377207..201451458, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (201857884..201933333, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (202241930..202316181, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Mitochondrial adaptor TRAK2 activates and functionally links opposing kinesin and dynein motors.
Title: Mitochondrial adaptor TRAK2 activates and functionally links opposing kinesin and dynein motors.
miR-487b and TRAK2 that form an axis to regulate the aggressiveness of osteosarcoma, are potential therapeutic targets and prognostic biomarkers.
Title: miR-487b and TRAK2 that form an axis to regulate the aggressiveness of osteosarcoma, are potential therapeutic targets and prognostic biomarkers.
TRAK2 is a novel regulator of LXR-mediated ABCA1 expression, cholesterol efflux, and HDL biogenesis. TRAK2 may therefore be an important target in the development of anti-atherosclerotic therapies.
Title: TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis.
Full-length APC promotes assembly of the Miro-1/Milton-2 complex.
Title: APC binds the Miro/Milton motor complex to stimulate transport of mitochondria to the plasma membrane.
This study showed that the TRAK2 was more prevalent in dendrites of hippocampal neurons. In cortical neurons, TRAK2 was equally distributed between axons and dendrites.
Title: Localization of the kinesin adaptor proteins trafficking kinesin proteins 1 and 2 in primary cultures of hippocampal pyramidal and cortical neurons.
The results of this study established a key role for mammalian TRAK2 proteins in axonal and dendritic targeting of mitochondria.
Title: TRAK/Milton motor-adaptor proteins steer mitochondrial trafficking to axons and dendrites.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
These data suggest that Miro1 and the kinesin adaptor Grif-1 play an important role in regulating mitochondrial transport in neurons.
Title: GTPase dependent recruitment of Grif-1 by Miro1 regulates mitochondrial trafficking in hippocampal neurons.
Binds to Kir2.1 and facilitates trafficking of this channel to the cell surface.
Title: Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

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

SGC31954 (e-PCR)
- UniSTS:61481

G54455 (e-PCR)
- UniSTS:140843

D2S1622E (e-PCR)
- UniSTS:57406

D2S1985 (e-PCR)
- UniSTS:595

SHGC-37476 (e-PCR)
- UniSTS:1196

D2S1678E (e-PCR)
- UniSTS:150710

RH91268 (e-PCR)
- UniSTS:89531

D2S1706E (e-PCR)
- UniSTS:150735

G20458 (e-PCR)
- UniSTS:49640

A005S03 (e-PCR)
- UniSTS:49641

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables GABA receptor binding	NAS Non-traceable Author Statement more info	PubMed
enables myosin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in anterograde axonal transport of mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion distribution	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein targeting	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle transport along microtubule	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: trafficking kinesin-binding protein 2

Names: O-linked N-acetylglucosamine transferase interacting protein 98; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein; gamma-aminobutyric acid(A) receptor-interacting factor; milton homolog 2; trafficking protein, kinesin binding 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)

NM_015049.3 → NP_055864.2 trafficking kinesin-binding protein 2

See identical proteins and their annotated locations for NP_055864.2

Status: VALIDATED

Source sequence(s)

AB011121, AB038951, AC007256, CA396280, DA314514, DA414989, DA575492

Consensus CDS

CCDS2347.1

UniProtKB/Swiss-Prot

E7EV21, O60296, Q8WVH7, Q96NS2, Q9C0K5, Q9C0K6

UniProtKB/TrEMBL

Q8IU62

Related

ENSP00000328875.3, ENST00000332624.8

Conserved Domains (2) summary

pfam04849
Location:50 → 353

HAP1_N; HAP1 N-terminal conserved region

pfam12448
Location:427 → 567

Milton; Kinesin associated protein

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

201377207..201451458 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047445578.1 → XP_047301534.1 trafficking kinesin-binding protein 2 isoform X1

UniProtKB/Swiss-Prot

E7EV21, O60296, Q8WVH7, Q96NS2, Q9C0K5, Q9C0K6

UniProtKB/TrEMBL

Q8IU62
XM_047445579.1 → XP_047301535.1 trafficking kinesin-binding protein 2 isoform X2

UniProtKB/TrEMBL

Q86TA0

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

201857884..201933333 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343511.1 → XP_054199486.1 trafficking kinesin-binding protein 2 isoform X1

UniProtKB/TrEMBL

Q8IU62
XM_054343508.1 → XP_054199483.1 trafficking kinesin-binding protein 2 isoform X1

UniProtKB/TrEMBL

Q8IU62
XM_054343510.1 → XP_054199485.1 trafficking kinesin-binding protein 2 isoform X1

UniProtKB/TrEMBL

Q8IU62
XM_054343509.1 → XP_054199484.1 trafficking kinesin-binding protein 2 isoform X1

UniProtKB/TrEMBL

Q8IU62
XM_054343512.1 → XP_054199487.1 trafficking kinesin-binding protein 2 isoform X2

UniProtKB/TrEMBL

Q86TA0