U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GLIS3 GLIS family zinc finger 3 [ Homo sapiens (human) ]

Gene ID: 169792, updated on 1-Oct-2024

Summary

Official Symbol
GLIS3provided by HGNC
Official Full Name
GLIS family zinc finger 3provided by HGNC
Primary source
HGNC:HGNC:28510
See related
Ensembl:ENSG00000107249 MIM:610192; AllianceGenome:HGNC:28510
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
NDH; ZNF515
Summary
This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]
Expression
Biased expression in thyroid (RPKM 8.8), gall bladder (RPKM 2.6) and 13 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See GLIS3 in Genome Data Viewer
Location:
9p24.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (3824127..4490465, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (3828153..4494104, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (3824127..4300068, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:3674142-3675341 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:3696328-3696940 Neighboring gene RFX3 divergent transcript Neighboring gene uncharacterized LOC105375962 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:3862633-3863832 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:3927295-3928494 Neighboring gene GLIS3 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr9:3954464-3954984 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:3968328-3969527 Neighboring gene uncharacterized LOC105375964 Neighboring gene uncharacterized LOC124902111 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:4136663-4137862 Neighboring gene GLIS3 intron CAGE-defined low expression enhancer Neighboring gene NANOG hESC enhancer GRCh37_chr9:4237960-4238479 Neighboring gene Sharpr-MPRA regulatory region 13837 Neighboring gene Sharpr-MPRA regulatory region 3194 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:4329035-4330234 Neighboring gene Sharpr-MPRA regulatory region 3538 Neighboring gene GLIS3 antisense RNA 2 Neighboring gene Sharpr-MPRA regulatory region 14111 Neighboring gene RNA, U6 small nuclear 694, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28147 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:4514651-4515591 Neighboring gene solute carrier family 1 member 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:4605494-4606693 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:4630798-4631350 Neighboring gene spermatogenesis associated 6 like Neighboring gene ribosomal protein S6 pseudogene 11

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neonatal diabetes mellitus with congenital hypothyroidism
MedGen: C1857775 OMIM: 610199 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
EBI GWAS Catalog
A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
EBI GWAS Catalog
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
EBI GWAS Catalog
Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
EBI GWAS Catalog
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
EBI GWAS Catalog
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
EBI GWAS Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
EBI GWAS Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
EBI GWAS Catalog
Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.
EBI GWAS Catalog
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
EBI GWAS Catalog
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ38999, FLJ90578, MGC33662

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
zinc finger protein GLIS3
Names
GLI-similar 3
OK/KNS-cl.4
zinc finger protein 515

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_011782.3 RefSeqGene

    Range
    195397..671338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042413.2NP_001035878.1  zinc finger protein GLIS3 isoform a

    See identical proteins and their annotated locations for NP_001035878.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AA933816, AK075059, AL133283, AL137071, AL162419, BC033899, DQ438886
    Consensus CDS
    CCDS43784.1
    UniProtKB/Swiss-Prot
    Q8NEA6
    UniProtKB/TrEMBL
    Q1PHJ8
    Related
    ENSP00000371398.3, ENST00000381971.8
    Conserved Domains (2) summary
    COG5189
    Location:558652
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:569591
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_152629.4NP_689842.3  zinc finger protein GLIS3 isoform b

    See identical proteins and their annotated locations for NP_689842.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter N-terminus when compared to isoform 1.
    Source sequence(s)
    AA933816, AL133283, AL137071, BC033899
    Consensus CDS
    CCDS6451.1
    UniProtKB/Swiss-Prot
    B1AL19, Q1PHK5, Q8NEA6
    UniProtKB/TrEMBL
    A0A0S2Z649, A0A0S2Z689
    Related
    ENSP00000325494.10, ENST00000324333.14
    Conserved Domains (2) summary
    COG5189
    Location:403497
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:414436
    ZF_C2H2; C2H2 Zn finger [structural motif]

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

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    3824127..4490465 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422890.1XP_047278846.1  zinc finger protein GLIS3 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z649
  2. XM_011517763.3XP_011516065.1  zinc finger protein GLIS3 isoform X1

    See identical proteins and their annotated locations for XP_011516065.1

    UniProtKB/Swiss-Prot
    Q8NEA6
    Conserved Domains (2) summary
    COG5189
    Location:558652
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:569591
    ZF_C2H2; C2H2 Zn finger [structural motif]
  3. XM_005251386.5XP_005251443.1  zinc finger protein GLIS3 isoform X3

    See identical proteins and their annotated locations for XP_005251443.1

    UniProtKB/Swiss-Prot
    B1AL19, Q1PHK5, Q8NEA6
    UniProtKB/TrEMBL
    A0A0S2Z649, A0A0S2Z689
    Related
    ENSP00000507306.1, ENST00000682749.1
    Conserved Domains (2) summary
    COG5189
    Location:403497
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:414436
    ZF_C2H2; C2H2 Zn finger [structural motif]
  4. XM_011517764.3XP_011516066.1  zinc finger protein GLIS3 isoform X1

    See identical proteins and their annotated locations for XP_011516066.1

    UniProtKB/Swiss-Prot
    Q8NEA6
    Conserved Domains (2) summary
    COG5189
    Location:558652
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:569591
    ZF_C2H2; C2H2 Zn finger [structural motif]
  5. XM_047422889.1XP_047278845.1  zinc finger protein GLIS3 isoform X1

  6. XM_011517766.3XP_011516068.1  zinc finger protein GLIS3 isoform X3

    See identical proteins and their annotated locations for XP_011516068.1

    UniProtKB/Swiss-Prot
    B1AL19, Q1PHK5, Q8NEA6
    UniProtKB/TrEMBL
    A0A0S2Z649, A0A0S2Z689
    Conserved Domains (2) summary
    COG5189
    Location:403497
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:414436
    ZF_C2H2; C2H2 Zn finger [structural motif]
  7. XM_017014361.2XP_016869850.1  zinc finger protein GLIS3 isoform X3

    UniProtKB/Swiss-Prot
    B1AL19, Q1PHK5, Q8NEA6
    UniProtKB/TrEMBL
    A0A0S2Z649, A0A0S2Z689
    Conserved Domains (2) summary
    COG5189
    Location:403497
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:414436
    ZF_C2H2; C2H2 Zn finger [structural motif]
  8. XM_047422892.1XP_047278848.1  zinc finger protein GLIS3 isoform X5

  9. XM_047422891.1XP_047278847.1  zinc finger protein GLIS3 isoform X4

  10. XM_047422893.1XP_047278849.1  zinc finger protein GLIS3 isoform X6

RNA

  1. XR_007061257.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    3828153..4494104 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362214.1XP_054218189.1  zinc finger protein GLIS3 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z649
  2. XM_054362211.1XP_054218186.1  zinc finger protein GLIS3 isoform X1

  3. XM_054362215.1XP_054218190.1  zinc finger protein GLIS3 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z649
  4. XM_054362213.1XP_054218188.1  zinc finger protein GLIS3 isoform X1

  5. XM_054362212.1XP_054218187.1  zinc finger protein GLIS3 isoform X1

  6. XM_054362217.1XP_054218192.1  zinc finger protein GLIS3 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z649
  7. XM_054362216.1XP_054218191.1  zinc finger protein GLIS3 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z649
  8. XM_054362218.1XP_054218193.1  zinc finger protein GLIS3 isoform X5