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KLHL2 kelch like family member 2 [ Homo sapiens (human) ]

Gene ID: 11275, updated on 17-Jun-2019

Summary

Official Symbol
KLHL2provided by HGNC
Official Full Name
kelch like family member 2provided by HGNC
Primary source
HGNC:HGNC:6353
See related
Ensembl:ENSG00000109466 MIM:605774
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
MAV; MAYVEN; ABP-KELCH
Expression
Ubiquitous expression in brain (RPKM 27.3), esophagus (RPKM 8.4) and 24 other tissues See more
Orthologs

Genomic context

See KLHL2 in Genome Data Viewer
Location:
4q32.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (165207561..165323156)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (166128770..166244308)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 75, pseudogene Neighboring gene transmembrane protein 192 Neighboring gene RNA, U4 small nuclear 87, pseudogene Neighboring gene glycerol kinase 3 pseudogene Neighboring gene uncharacterized LOC105377519 Neighboring gene methylsterol monooxygenase 1

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
ruffle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
kelch-like protein 2
Names
actin-binding protein Mayven
kelch-like 2, Mayven

NCBI Reference Sequences (RefSeq)

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_001161521.1NP_001154993.1  kelch-like protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001154993.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AI814691, AK294103, BC036468, DA250099
    Consensus CDS
    CCDS54815.1
    UniProtKB/Swiss-Prot
    O95198
    Related
    ENSP00000424198.1, ENST00000514860.5
    Conserved Domains (2) summary
    sd00038
    Location:490534
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:60577
    BTB; Broad-Complex, Tramtrack and Bric a brac
  2. NM_001161522.1NP_001154994.1  kelch-like protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001154994.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AI814691, BC036468, BX647776, DA250099
    Consensus CDS
    CCDS54816.1
    UniProtKB/Swiss-Prot
    O95198
    Related
    ENSP00000437526.1, ENST00000538127.5
    Conserved Domains (2) summary
    sd00038
    Location:398442
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:22485
    BTB; Broad-Complex, Tramtrack and Bric a brac
  3. NM_001331023.1NP_001317952.1  kelch-like protein 2 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and lacks two consecutive exons in the 5' coding region compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (4) that has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AI814691, AL541403, BC022503, BC036468
    Consensus CDS
    CCDS82975.1
    UniProtKB/Swiss-Prot
    O95198
    UniProtKB/TrEMBL
    B4DFZ5
    Related
    ENSP00000424108.1, ENST00000506761.1
    Conserved Domains (2) summary
    sd00038
    Location:320364
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:1407
    BTB; Broad-Complex, Tramtrack and Bric a brac
  4. NM_001331024.1NP_001317953.1  kelch-like protein 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and lacks an exon in the 5' coding region compared to variant 1. This variant represents translation initiation at an alternate start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (5) that has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AI814691, AL541403, BC022503, BC036468, BP276971
    Consensus CDS
    CCDS82974.1
    UniProtKB/Swiss-Prot
    O95198
    UniProtKB/TrEMBL
    E9PEX9
    Conserved Domains (2) summary
    sd00038
    Location:389433
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:32476
    BTB; Broad-Complex, Tramtrack and Bric a brac
  5. NM_007246.4NP_009177.3  kelch-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_009177.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AC055120, AI814691, AL541403, BC022503, BC036468
    Consensus CDS
    CCDS34094.1
    UniProtKB/Swiss-Prot
    O95198
    Related
    ENSP00000226725.6, ENST00000226725.11
    Conserved Domains (2) summary
    sd00038
    Location:486530
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:56573
    BTB; Broad-Complex, Tramtrack and Bric a brac

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    165207561..165323156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007676.1XP_016863165.1  kelch-like protein 2 isoform X4

    UniProtKB/Swiss-Prot
    O95198
    Conserved Domains (2) summary
    sd00038
    Location:398442
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:22485
    BTB; Broad-Complex, Tramtrack and Bric a brac
  2. XM_017007674.1XP_016863163.1  kelch-like protein 2 isoform X1

    Conserved Domains (2) summary
    sd00038
    Location:448492
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:18535
    BTB; Broad-Complex, Tramtrack and Bric a brac
  3. XM_011531572.2XP_011529874.1  kelch-like protein 2 isoform X2

    Conserved Domains (7) summary
    smart00612
    Location:537583
    Kelch; Kelch domain
    PHA03098
    Location:89613
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:526570
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:90189
    BTB; BTB/POZ domain
    pfam01344
    Location:429474
    Kelch_1; Kelch motif
    pfam07707
    Location:198300
    BACK; BTB And C-terminal Kelch
    pfam13900
    Location:5790
    GVQW; Putative domain of unknown function
  4. XM_024453881.1XP_024309649.1  kelch-like protein 2 isoform X1

    Conserved Domains (2) summary
    sd00038
    Location:448492
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:18535
    BTB; Broad-Complex, Tramtrack and Bric a brac
  5. XM_017007675.2XP_016863164.1  kelch-like protein 2 isoform X3

  6. XM_011531576.3XP_011529878.1  kelch-like protein 2 isoform X5

    See identical proteins and their annotated locations for XP_011529878.1

    UniProtKB/TrEMBL
    E9PEX9
    Related
    ENSP00000408974.2, ENST00000421009.6
    Conserved Domains (2) summary
    sd00038
    Location:389433
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:32476
    BTB; Broad-Complex, Tramtrack and Bric a brac

RNA

  1. XR_001741101.2 RNA Sequence

  2. XR_001741102.1 RNA Sequence

  3. XR_002959703.1 RNA Sequence

    Related
    ENST00000506824.5
  4. XR_002959705.1 RNA Sequence

  5. XR_002959704.1 RNA Sequence

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