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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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    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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