Format

Send to:

Choose Destination

GALK2 galactokinase 2 [ Homo sapiens (human) ]

Gene ID: 2585, updated on 24-Nov-2020

Summary

Official Symbol
GALK2provided by HGNC
Official Full Name
galactokinase 2provided by HGNC
Primary source
HGNC:HGNC:4119
See related
Ensembl:ENSG00000156958 MIM:137028
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
GK2
Summary
This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]
Expression
Ubiquitous expression in kidney (RPKM 4.3), duodenum (RPKM 3.4) and 25 other tissues See more
Orthologs

Genomic context

See GALK2 in Genome Data Viewer
Location:
15q21.1-q21.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (49155774..49367883)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (49447974..49659955)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SECIS binding protein 2 like Neighboring gene RNA, 7SL, cytoplasmic 577, pseudogene Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 1 Neighboring gene COP9 signalosome subunit 2 Neighboring gene microRNA 4716 Neighboring gene ribosomal protein L15 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 307, pseudogene Neighboring gene signal peptide peptidase like 2A pseudogene Neighboring gene family with sequence similarity 227 member B Neighboring gene uncharacterized LOC105370811 Neighboring gene fibroblast growth factor 7

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1745

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
N-acetylgalactosamine kinase activity IEA
Inferred from Electronic Annotation
more info
 
galactokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
galactokinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
carbohydrate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
galactose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
N-acetylgalactosamine kinase
Names
galNAc kinase
NP_001001556.1
NP_001275959.1
NP_001275960.1
NP_001338976.1
NP_001338977.1
NP_002035.1
XP_005254336.1
XP_005254337.1
XP_005254341.1
XP_006720524.1
XP_006720525.1
XP_006720526.1
XP_006720527.1
XP_011519743.1
XP_016877551.1
XP_016877552.1
XP_016877553.1
XP_024305660.1
XP_024305661.1
XP_024305662.1
XP_024305663.1

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_001001556.3NP_001001556.1  N-acetylgalactosamine kinase isoform 2

    See identical proteins and their annotated locations for NP_001001556.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. The encoded isoform (2) has a shorter and alternate N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC022306, AF461816, AL832745, BX096260, BX455251, CA841825, DC390737
    Consensus CDS
    CCDS32236.1
    UniProtKB/Swiss-Prot
    Q01415
    Related
    ENSP00000316632.3, ENST00000327171.7
    Conserved Domains (3) summary
    PLN02521
    Location:7444
    PLN02521; galactokinase
    pfam08544
    Location:339419
    GHMP_kinases_C; GHMP kinases C terminal
    pfam10509
    Location:1362
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  2. NM_001289030.2NP_001275959.1  N-acetylgalactosamine kinase isoform 3

    See identical proteins and their annotated locations for NP_001275959.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' exon and uses a downstream translation start codon, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus, compared to isoform 1. Variants 3 and 4 encode the same protein.
    Source sequence(s)
    AC022306, AK316440, DB457948, EB386877
    Consensus CDS
    CCDS73724.1
    UniProtKB/TrEMBL
    B7ZAX5
    Related
    ENSP00000440312.1, ENST00000544523.5
    Conserved Domains (3) summary
    PLN02521
    Location:2431
    PLN02521; galactokinase
    pfam08544
    Location:326406
    GHMP_kinases_C; GHMP kinases C terminal
    pfam10509
    Location:249
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  3. NM_001289031.1NP_001275960.1  N-acetylgalactosamine kinase isoform 3

    See identical proteins and their annotated locations for NP_001275960.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region, and uses a downstream translation start codon, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus, compared to isoform 1. Variants 3 and 4 encode the same protein.
    Source sequence(s)
    AC022306, AK301361, BQ921903, DB457948, DC298656
    Consensus CDS
    CCDS73724.1
    UniProtKB/TrEMBL
    B4DW43, B7ZAX5
    Related
    ENSP00000379766.2, ENST00000396509.6
    Conserved Domains (3) summary
    PLN02521
    Location:2431
    PLN02521; galactokinase
    pfam08544
    Location:326406
    GHMP_kinases_C; GHMP kinases C terminal
    pfam10509
    Location:249
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  4. NM_001352047.1NP_001338976.1  N-acetylgalactosamine kinase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC013452, AC022306
    Conserved Domains (1) summary
    cl26519
    Location:1319
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  5. NM_001352048.2NP_001338977.1  N-acetylgalactosamine kinase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC013452, AC022306
    Conserved Domains (1) summary
    cl26519
    Location:1319
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  6. NM_002044.4NP_002035.1  N-acetylgalactosamine kinase isoform 1

    See identical proteins and their annotated locations for NP_002035.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC022306, AL832745, BC005141, BX096260, BX455251, CA841825, DB457948
    Consensus CDS
    CCDS42034.1
    UniProtKB/Swiss-Prot
    Q01415
    Related
    ENSP00000453129.1, ENST00000560031.6
    Conserved Domains (1) summary
    cl26519
    Location:18455
    GalKase_gal_bdg; Galactokinase galactose-binding signature

RNA

  1. NR_147895.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC013452, AC022306

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    49155774..49367883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254284.4XP_005254341.1  N-acetylgalactosamine kinase isoform X6

    Conserved Domains (3) summary
    PLN02521
    Location:7407
    PLN02521; galactokinase
    pfam08544
    Location:306386
    GHMP_kinases_C; GHMP kinases C terminal
    pfam10509
    Location:1362
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  2. XM_017022063.2XP_016877552.1  N-acetylgalactosamine kinase isoform X11

  3. XM_024449893.1XP_024305661.1  N-acetylgalactosamine kinase isoform X7

    Conserved Domains (1) summary
    cl26519
    Location:7404
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  4. XM_005254280.4XP_005254337.1  N-acetylgalactosamine kinase isoform X3

    Conserved Domains (3) summary
    PLN02521
    Location:7440
    PLN02521; galactokinase
    pfam08544
    Location:339419
    GHMP_kinases_C; GHMP kinases C terminal
    pfam10509
    Location:1362
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  5. XM_024449894.1XP_024305662.1  N-acetylgalactosamine kinase isoform X8

    Conserved Domains (1) summary
    cl26519
    Location:2394
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  6. XM_011521441.3XP_011519743.1  N-acetylgalactosamine kinase isoform X12

    Conserved Domains (2) summary
    PLN02521
    Location:1322
    PLN02521; galactokinase
    pfam08544
    Location:221301
    GHMP_kinases_C; GHMP kinases C terminal
  7. XM_024449892.1XP_024305660.1  N-acetylgalactosamine kinase isoform X4

    Conserved Domains (1) summary
    cl26519
    Location:2427
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  8. XM_024449895.1XP_024305663.1  N-acetylgalactosamine kinase isoform X13

    Conserved Domains (1) summary
    cl26519
    Location:1293
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  9. XM_005254279.4XP_005254336.1  N-acetylgalactosamine kinase isoform X1

    Conserved Domains (3) summary
    PLN02521
    Location:18451
    PLN02521; galactokinase
    pfam08544
    Location:350430
    GHMP_kinases_C; GHMP kinases C terminal
    pfam10509
    Location:2473
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  10. XM_006720461.4XP_006720524.1  N-acetylgalactosamine kinase isoform X2

    Conserved Domains (3) summary
    PLN02521
    Location:18448
    PLN02521; galactokinase
    pfam08544
    Location:350430
    GHMP_kinases_C; GHMP kinases C terminal
    pfam10509
    Location:2473
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  11. XM_006720463.4XP_006720526.1  N-acetylgalactosamine kinase isoform X5

    Conserved Domains (3) summary
    PLN02521
    Location:18418
    PLN02521; galactokinase
    pfam08544
    Location:317397
    GHMP_kinases_C; GHMP kinases C terminal
    pfam10509
    Location:2473
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  12. XM_006720464.4XP_006720527.1  N-acetylgalactosamine kinase isoform X10

    Conserved Domains (3) summary
    PLN02521
    Location:18367
    PLN02521; galactokinase
    pfam08544
    Location:266346
    GHMP_kinases_C; GHMP kinases C terminal
    pfam10509
    Location:2473
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  13. XM_006720462.4XP_006720525.1  N-acetylgalactosamine kinase isoform X4

    Conserved Domains (1) summary
    cl26519
    Location:2427
    GalKase_gal_bdg; Galactokinase galactose-binding signature
  14. XM_017022062.2XP_016877551.1  N-acetylgalactosamine kinase isoform X9

  15. XM_017022064.2XP_016877553.1  N-acetylgalactosamine kinase isoform X12

    Conserved Domains (2) summary
    PLN02521
    Location:1322
    PLN02521; galactokinase
    pfam08544
    Location:221301
    GHMP_kinases_C; GHMP kinases C terminal

RNA

  1. XR_001751208.2 RNA Sequence

  2. XR_001751206.2 RNA Sequence

  3. XR_001751202.2 RNA Sequence

  4. XR_002957633.1 RNA Sequence

  5. XR_001751205.2 RNA Sequence

  6. XR_001751204.2 RNA Sequence

  7. XR_001751207.2 RNA Sequence

Support Center