HIC2 HIC ZBTB transcriptional repressor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HIC2provided by HGNC
Official Full Name: HIC ZBTB transcriptional repressor 2provided by HGNC
Primary source: HGNC:HGNC:18595
See related: Ensembl:ENSG00000169635 MIM:607712; AllianceGenome:HGNC:18595
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: HRG22; ZBTB30; ZNF907
Summary: Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in placenta (RPKM 3.4), testis (RPKM 2.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (21417371..21451463)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (21896880..21930996, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (21771660..21805752)

Chromosome 22 - NC_000022.11 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching.
Title: let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching.
Hypermethylation of HIC2 is a potential prognostic biomarker and tumor suppressor of glioma based on bioinformatics analysis and experiments.
Title: Hypermethylation of HIC2 is a potential prognostic biomarker and tumor suppressor of glioma based on bioinformatics analysis and experiments.
HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription.
Title: HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription.
HIC2 is a pivotal transcriptional activator of SIRT1
Title: HIC2, a new transcription activator of SIRT1.
data suggest that HIC2 haploinsufficiency likely contributes to the cardiac defects seen in distal 22q11 deletion syndrome
Title: HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.
HIC1 and HRG22 define a subgroup of BTB/POZ domains unable to recruit repressing complexes containing a histone deacetylase activity.
Title: Characterization of HRG22, a human homologue of the putative tumor suppressor gene HIC1.

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
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. 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

A009D08 (e-PCR)
- UniSTS:53252

G20786 (e-PCR)
- UniSTS:35708

A006G19 (e-PCR)
- UniSTS:35709

HIC2__6718 (e-PCR)
- UniSTS:463611

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cytokine production	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of immune system process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: hypermethylated in cancer 2 protein

Names: HIC1-related gene on chromosome 22 protein; hic-2; hic-3; zinc finger and BTB domain-containing protein 30

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_015094.3 → NP_055909.2 hypermethylated in cancer 2 protein

See identical proteins and their annotated locations for NP_055909.2

Status: VALIDATED

Source sequence(s)

AP000552, AP000556, AP000557, BC094787, BM675330, CN373403

Consensus CDS

CCDS13789.1

UniProtKB/Swiss-Prot

Q504T6, Q96JB3, Q96KR3, Q9NSM9, Q9UPX9

Related

ENSP00000385319.2, ENST00000407464.7

Conserved Domains (7) summary

smart00225
Location:47 → 141

BTB; Broad-Complex, Tramtrack and Bric a brac

COG5048
Location:559 → 613

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:535 → 555

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:533 → 555

zf-C2H2; Zinc finger, C2H2 type

pfam00651
Location:40 → 140

BTB; BTB/POZ domain

pfam13465
Location:576 → 600

zf-H2C2_2; Zinc-finger double domain

pfam15724
Location:300 → 395

TMEM119; TMEM119 family

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_000022.11 Reference GRCh38.p14 Primary Assembly

Range

21417371..21451463

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017028669.3 → XP_016884158.1 hypermethylated in cancer 2 protein isoform X2

UniProtKB/Swiss-Prot

Q96JB3
XM_011530008.4 → XP_011528310.1 hypermethylated in cancer 2 protein isoform X1

See identical proteins and their annotated locations for XP_011528310.1

UniProtKB/Swiss-Prot

Q504T6, Q96JB3, Q96KR3, Q9NSM9, Q9UPX9

Related

ENSP00000384889.2, ENST00000407598.2

Conserved Domains (7) summary

smart00225
Location:47 → 141

BTB; Broad-Complex, Tramtrack and Bric a brac

COG5048
Location:559 → 613

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:535 → 555

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:533 → 555

zf-C2H2; Zinc finger, C2H2 type

pfam00651
Location:40 → 140

BTB; BTB/POZ domain

pfam13465
Location:576 → 600

zf-H2C2_2; Zinc-finger double domain

pfam15724
Location:300 → 395

TMEM119; TMEM119 family
XM_011530009.2 → XP_011528311.1 hypermethylated in cancer 2 protein isoform X1

See identical proteins and their annotated locations for XP_011528311.1

UniProtKB/Swiss-Prot

Q504T6, Q96JB3, Q96KR3, Q9NSM9, Q9UPX9

Conserved Domains (7) summary

smart00225
Location:47 → 141

BTB; Broad-Complex, Tramtrack and Bric a brac

COG5048
Location:559 → 613

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:535 → 555

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:533 → 555

zf-C2H2; Zinc finger, C2H2 type

pfam00651
Location:40 → 140

BTB; BTB/POZ domain

pfam13465
Location:576 → 600

zf-H2C2_2; Zinc-finger double domain

pfam15724
Location:300 → 395

TMEM119; TMEM119 family