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

Gene ID: 728340, updated on 5-Jan-2022

Summary

Official Symbol
GTF2H2Cprovided by HGNC
Official Full Name
GTF2H2 family member Cprovided by HGNC
Primary source
HGNC:HGNC:31394
See related
Ensembl:ENSG00000183474
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, Nov 2021]
Expression
Ubiquitous expression in testis (RPKM 16.2), thyroid (RPKM 13.7) and 25 other tissues See more
Orthologs
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Genomic context

See GTF2H2C in Genome Data Viewer
Location:
5q13.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (69560191..69595221)
105.20201022 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 small nucleolar RNA, C/D box 13B-1 Neighboring gene NAIP pseudogene 3 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transcription, DNA-templated IEA
Inferred from Electronic Annotation
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
PubMed 

General protein information

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_001098728.3NP_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
    Q6P1K8
    Related
    ENSP00000422907.1, ENST00000510979.5
    Conserved Domains (2) summary
    cl06838
    Location:288388
    C1_4; TFIIH C1-like domain
    pfam04056
    Location:64255
    Ssl1; Ssl1-like
  2. NM_001375998.1NP_001362927.1  general transcription factor IIH subunit 2-like protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Conserved Domains (2) summary
    cl06838
    Location:288388
    C1_4; TFIIH C1-like domain
    pfam04056
    Location:64255
    Ssl1; Ssl1-like
  3. NM_001375999.1NP_001362928.1  general transcription factor IIH subunit 2-like protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Conserved Domains (2) summary
    cl06838
    Location:288388
    C1_4; TFIIH C1-like domain
    pfam04056
    Location:64255
    Ssl1; Ssl1-like
  4. NM_001376000.2NP_001362929.1  general transcription factor IIH subunit 2-like protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Related
    ENSP00000370105.3, ENST00000380729.8
    Conserved Domains (2) summary
    cl06838
    Location:288388
    C1_4; TFIIH C1-like domain
    pfam04056
    Location:64255
    Ssl1; Ssl1-like
  5. NM_001376001.1NP_001362930.1  general transcription factor IIH subunit 2-like protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Conserved Domains (2) summary
    cl06838
    Location:288388
    C1_4; TFIIH C1-like domain
    pfam04056
    Location:64255
    Ssl1; Ssl1-like
  6. NM_001376002.1NP_001362931.1  general transcription factor IIH subunit 2-like protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Conserved Domains (2) summary
    COG5151
    Location:11368
    SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
    cl00057
    Location:64238
    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_001376003.1NP_001362932.1  general transcription factor IIH subunit 2-like protein isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC145102, AC147575
    Conserved Domains (2) summary
    COG5151
    Location:11349
    SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
    cd01453
    Location:56218
    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_001376005.1NP_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:11251
    SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
    cl06838
    Location:154254
    C1_4; TFIIH C1-like domain
  9. NM_001376006.1NP_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:33133
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    pfam04056
    Location:64255
    Ssl1; Ssl1-like
    cl06838
    Location:288346
    C1_4; TFIIH C1-like domain
  2. XM_017009804.1XP_016865293.1  general transcription factor IIH subunit 2-like protein isoform X4

    Conserved Domains (2) summary
    cd01453
    Location:1178
    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 ...
    cl06838
    Location:231331
    C1_4; TFIIH C1-like domain

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p13 ALT_REF_LOCI_1

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