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GTF2H2C GTF2H2 family member C [ Homo sapiens (human) ]

Gene ID: 728340, updated on 3-Apr-2024

Summary

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Official Symbol
GTF2H2Cprovided by HGNC
Official Full Name
GTF2H2 family member Cprovided by HGNC
Primary source
HGNC:HGNC:31394
See related
Ensembl:ENSG00000183474 AllianceGenome:HGNC:31394
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
GTF2H2C_2
Summary
Predicted to enable zinc ion binding activity. Predicted to be involved in nucleotide-excision repair and regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 16.2), thyroid (RPKM 13.7) and 25 other tissues See more
Orthologs
all
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Genomic context

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See GTF2H2C in Genome Data Viewer
Location:
5q13.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (69560191..69595221)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (70385969..70420970)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (68856018..68891048)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene occludin Neighboring gene RNA, U6 small nuclear 724, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:68833541-68834040 Neighboring gene small nucleolar RNA, C/D box 13B-1 Neighboring gene NAIP pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68928896-68929561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68929562-68930228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68930229-68930894 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Fetal lung and placental methylation is associated with in utero nicotine exposure. Chhabra D, et al. Epigenetics, 2014 Nov. PMID 25482056, Free PMC Article
  2. Lineage-specific gene duplication and loss in human and great ape evolution. Fortna A, et al. PLoS Biol, 2004 Jul. PMID 15252450, Free PMC Article
  3. Identification of Novel Nuclear Factor of Activated T Cell (NFAT)-associated Proteins in T Cells. Gabriel CH, et al. J Biol Chem, 2016 Nov 11. PMID 27637333, Free PMC Article
  4. Histone methyltransferase DOT1L coordinates AR and MYC stability in prostate cancer. Vatapalli R, et al. Nat Commun, 2020 Aug 19. PMID 32814769, Free PMC Article
  5. Reciprocal interaction between SIRT6 and APC/C regulates genomic stability. Wang H, et al. Sci Rep, 2021 Jul 9. PMID 34244565, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ77682, MGC102806, MGC198575, DKFZp686P18101

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
part_of transcription factor TFIIH core complex IEA
Inferred from Electronic Annotation
more info
  
part_of transcription factor TFIIH holo complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
general transcription factor IIH subunit 2-like protein
Names
general transcription factor IIH polypeptide 2-like protein
general transcription factor IIH, polypeptide 2C

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)

  1. NM_001098728.3 → NP_001092198.1  general transcription factor IIH subunit 2-like protein isoform 1

    See identical proteins and their annotated locations for NP_001092198.1

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Consensus CDS
    CCDS43325.1
    UniProtKB/Swiss-Prot
    A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8
    UniProtKB/TrEMBL
    B7ZW82
    Related
    ENSP00000422907.1, ENST00000510979.5
    Conserved Domains (2) summary
    cl06838
    Location:288 → 388
    C1_4; TFIIH C1-like domain
    pfam04056
    Location:64 → 255
    Ssl1; Ssl1-like

  2. NM_001375998.1 → NP_001362927.1  general transcription factor IIH subunit 2-like protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Consensus CDS
    CCDS43325.1
    UniProtKB/Swiss-Prot
    A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8
    UniProtKB/TrEMBL
    B7ZW82
    Conserved Domains (2) summary
    cl06838
    Location:288 → 388
    C1_4; TFIIH C1-like domain
    pfam04056
    Location:64 → 255
    Ssl1; Ssl1-like

  3. NM_001375999.1 → NP_001362928.1  general transcription factor IIH subunit 2-like protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Consensus CDS
    CCDS43325.1
    UniProtKB/Swiss-Prot
    A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8
    UniProtKB/TrEMBL
    B7ZW82
    Conserved Domains (2) summary
    cl06838
    Location:288 → 388
    C1_4; TFIIH C1-like domain
    pfam04056
    Location:64 → 255
    Ssl1; Ssl1-like

  4. NM_001376000.2 → NP_001362929.1  general transcription factor IIH subunit 2-like protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Consensus CDS
    CCDS43325.1
    UniProtKB/Swiss-Prot
    A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8
    UniProtKB/TrEMBL
    B7ZW82
    Related
    ENSP00000370105.3, ENST00000380729.8
    Conserved Domains (2) summary
    cl06838
    Location:288 → 388
    C1_4; TFIIH C1-like domain
    pfam04056
    Location:64 → 255
    Ssl1; Ssl1-like

  5. NM_001376001.1 → NP_001362930.1  general transcription factor IIH subunit 2-like protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Consensus CDS
    CCDS43325.1
    UniProtKB/Swiss-Prot
    A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8
    UniProtKB/TrEMBL
    B7ZW82
    Conserved Domains (2) summary
    cl06838
    Location:288 → 388
    C1_4; TFIIH C1-like domain
    pfam04056
    Location:64 → 255
    Ssl1; Ssl1-like

  6. NM_001376002.1 → NP_001362931.1  general transcription factor IIH subunit 2-like protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    UniProtKB/TrEMBL
    B7ZW82
    Conserved Domains (2) summary
    COG5151
    Location:11 → 368
    SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
    cl00057
    Location:64 → 238
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

  7. NM_001376003.1 → NP_001362932.1  general transcription factor IIH subunit 2-like protein isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    UniProtKB/TrEMBL
    B7ZW82
    Conserved Domains (2) summary
    COG5151
    Location:11 → 349
    SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
    cd01453
    Location:56 → 218
    vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...

  8. NM_001376005.1 → NP_001362934.1  general transcription factor IIH subunit 2-like protein isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Conserved Domains (2) summary
    COG5151
    Location:11 → 251
    SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
    cl06838
    Location:154 → 254
    C1_4; TFIIH C1-like domain

  9. NM_001376006.1 → NP_001362935.1  general transcription factor IIH subunit 2-like protein isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Conserved Domains (1) summary
    cl06838
    Location:33 → 133
    C1_4; TFIIH C1-like domain

RNA

  1. NR_164749.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575

  2. NR_164750.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575

  3. NR_164751.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575

  4. NR_164752.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    69560191..69595221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543615.2 → XP_011541917.1  general transcription factor IIH subunit 2-like protein isoform X2

    Conserved Domains (2) summary
    pfam04056
    Location:64 → 255
    Ssl1; Ssl1-like
    cl06838
    Location:288 → 346
    C1_4; TFIIH C1-like domain

  2. XM_047417684.1 → XP_047273640.1  general transcription factor IIH subunit 2-like protein isoform X1

    UniProtKB/Swiss-Prot
    A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791777.1 Reference GRCh38.p14 PATCHES

    Range
    226906..261912
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333039.1 → XP_054189014.1  general transcription factor IIH subunit 2-like protein isoform X3

  2. XM_054333038.1 → XP_054189013.1  general transcription factor IIH subunit 2-like protein isoform X3

  3. XM_054333037.1 → XP_054189012.1  general transcription factor IIH subunit 2-like protein isoform X3

  4. XM_054333036.1 → XP_054189011.1  general transcription factor IIH subunit 2-like protein isoform X1

    UniProtKB/Swiss-Prot
    A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8

  5. XM_054333040.1 → XP_054189015.1  general transcription factor IIH subunit 2-like protein isoform X3

  6. XM_054333041.1 → XP_054189016.1  general transcription factor IIH subunit 2-like protein isoform X4

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    343139..378173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329549.1 → XP_054185524.1  general transcription factor IIH subunit 2-like protein isoform X2

  2. XM_054329547.1 → XP_054185522.1  general transcription factor IIH subunit 2-like protein isoform X2

  3. XM_054329548.1 → XP_054185523.1  general transcription factor IIH subunit 2-like protein isoform X2

  4. XM_054329546.1 → XP_054185521.1  general transcription factor IIH subunit 2-like protein isoform X1

    UniProtKB/Swiss-Prot
    Q13888, Q15570, Q15571, Q9BS41

  5. XM_054329550.1 → XP_054185525.1  general transcription factor IIH subunit 2-like protein isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    70385969..70420970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353397.1 → XP_054209372.1  general transcription factor IIH subunit 2-like protein isoform X2

  2. XM_054353395.1 → XP_054209370.1  general transcription factor IIH subunit 2-like protein isoform X2

  3. XM_054353396.1 → XP_054209371.1  general transcription factor IIH subunit 2-like protein isoform X2

  4. XM_054353394.1 → XP_054209369.1  general transcription factor IIH subunit 2-like protein isoform X2

  5. XM_054353393.1 → XP_054209368.1  general transcription factor IIH subunit 2-like protein isoform X1

    UniProtKB/Swiss-Prot
    A6NED9, A8K8J6, B2RCU4, B7ZW39, Q6P1K8

  6. XM_054353398.1 → XP_054209373.1  general transcription factor IIH subunit 2-like protein isoform X2

  7. XM_054353399.1 → XP_054209374.1  general transcription factor IIH subunit 2-like protein isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P1K8.1 GenPept UniProtKB/Swiss-Prot:Q6P1K8

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