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RHBDF2 rhomboid 5 homolog 2 [ Homo sapiens (human) ]

Gene ID: 79651, updated on 17-Oct-2021

Summary

Official Symbol
RHBDF2provided by HGNC
Official Full Name
rhomboid 5 homolog 2provided by HGNC
Primary source
HGNC:HGNC:20788
See related
Ensembl:ENSG00000129667 MIM:614404
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
TEC; TOC; TOCG; RHBDL5; RHBDL6; iRhom2
Expression
Broad expression in spleen (RPKM 8.7), appendix (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

See RHBDF2 in Genome Data Viewer
Location:
17q25.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (76470893..76501440, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74466975..74497509, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 O Neighboring gene ribosomal protein L7 pseudogene 49 Neighboring gene aralkylamine N-acetyltransferase Neighboring gene cytoglobin Neighboring gene photoreceptor disc component Neighboring gene small nucleolar RNA, C/D box 1C Neighboring gene small nucleolar RNA host gene 16

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22341

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables growth factor binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein transporter activity TAS
Traceable Author Statement
more info
 
NOT enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of inflammatory response to antigenic stimulus TAS
Traceable Author Statement
more info
 
involved_in negative regulation of protein secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
inactive rhomboid protein 2
Names
rhomboid family member 2
rhomboid veinlet-like protein 5
rhomboid veinlet-like protein 6

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.

Genomic

  1. NG_032852.1 RefSeqGene

    Range
    5001..35535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_532

mRNA and Protein(s)

  1. NM_001005498.4NP_001005498.2  inactive rhomboid protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001005498.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate, in frame splice site in the 5' coding region compared to isoform 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC015802
    Consensus CDS
    CCDS32744.1
    UniProtKB/Swiss-Prot
    Q6PJF5
    Related
    ENSP00000501790.1, ENST00000675367.1
    Conserved Domains (3) summary
    pfam01694
    Location:622762
    Rhomboid; Rhomboid family
    pfam12595
    Location:99305
    Rhomboid_SP; Rhomboid serine protease
    cl21488
    Location:716812
    ECF_trnsprt; ECF transporter, substrate-specific component
  2. NM_001376228.1NP_001363157.1  inactive rhomboid protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC015802
    Conserved Domains (3) summary
    pfam01694
    Location:622762
    Rhomboid; Rhomboid family
    pfam12595
    Location:99305
    Rhomboid_SP; Rhomboid serine protease
    cl21488
    Location:716812
    ECF_trnsprt; ECF transporter, substrate-specific component
  3. NM_001376229.1NP_001363158.1  inactive rhomboid protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC015802
    Conserved Domains (3) summary
    pfam01694
    Location:622762
    Rhomboid; Rhomboid family
    pfam12595
    Location:99305
    Rhomboid_SP; Rhomboid serine protease
    cl21488
    Location:716812
    ECF_trnsprt; ECF transporter, substrate-specific component
  4. NM_001376230.1NP_001363159.1  inactive rhomboid protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC015802
    Conserved Domains (3) summary
    pfam01694
    Location:622762
    Rhomboid; Rhomboid family
    pfam12595
    Location:99305
    Rhomboid_SP; Rhomboid serine protease
    cl21488
    Location:716812
    ECF_trnsprt; ECF transporter, substrate-specific component
  5. NM_024599.5NP_078875.4  inactive rhomboid protein 2 isoform 1

    See identical proteins and their annotated locations for NP_078875.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC015802, AK292135, AL833680, BC035829, DC337840, DC348660
    Consensus CDS
    CCDS32743.1
    UniProtKB/Swiss-Prot
    Q6PJF5
    Related
    ENSP00000322775.3, ENST00000313080.8
    Conserved Domains (3) summary
    pfam01694
    Location:648789
    Rhomboid; Rhomboid family
    pfam12595
    Location:128334
    Rhomboid_SP; Rhomboid serine protease
    cl19823
    Location:748832
    GtrA; GtrA-like protein

RNA

  1. NR_164785.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC015802
  2. NR_164786.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC015802
  3. NR_164787.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC015802

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    76470893..76501440 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525250.2XP_011523552.1  inactive rhomboid protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011523552.1

    UniProtKB/Swiss-Prot
    Q6PJF5
    Conserved Domains (3) summary
    pfam01694
    Location:622762
    Rhomboid; Rhomboid family
    pfam12595
    Location:99305
    Rhomboid_SP; Rhomboid serine protease
    cl21488
    Location:716812
    ECF_trnsprt; ECF transporter, substrate-specific component
  2. XM_011525251.2XP_011523553.1  inactive rhomboid protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011523553.1

    UniProtKB/Swiss-Prot
    Q6PJF5
    Conserved Domains (3) summary
    pfam01694
    Location:622762
    Rhomboid; Rhomboid family
    pfam12595
    Location:99305
    Rhomboid_SP; Rhomboid serine protease
    cl21488
    Location:716812
    ECF_trnsprt; ECF transporter, substrate-specific component
  3. XM_005257669.3XP_005257726.1  inactive rhomboid protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005257726.1

    UniProtKB/Swiss-Prot
    Q6PJF5
    Conserved Domains (3) summary
    pfam01694
    Location:648789
    Rhomboid; Rhomboid family
    pfam12595
    Location:128334
    Rhomboid_SP; Rhomboid serine protease
    cl19823
    Location:748832
    GtrA; GtrA-like protein
  4. XM_011525249.2XP_011523551.1  inactive rhomboid protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011523551.1

    UniProtKB/Swiss-Prot
    Q6PJF5
    Conserved Domains (3) summary
    pfam01694
    Location:622762
    Rhomboid; Rhomboid family
    pfam12595
    Location:99305
    Rhomboid_SP; Rhomboid serine protease
    cl21488
    Location:716812
    ECF_trnsprt; ECF transporter, substrate-specific component

RNA

  1. XR_001752625.2 RNA Sequence

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