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KLHDC7B kelch domain containing 7B [ Homo sapiens (human) ]

Gene ID: 113730, updated on 26-Oct-2022

Summary

Official Symbol
KLHDC7Bprovided by HGNC
Official Full Name
kelch domain containing 7Bprovided by HGNC
Primary source
HGNC:HGNC:25145
See related
Ensembl:ENSG00000130487 AllianceGenome:HGNC:25145
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
Orthologs
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Genomic context

See KLHDC7B in Genome Data Viewer
Location:
22q13.33
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50545899..50551023)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51056466..51061530)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50984328..50989452)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724608 Neighboring gene Sharpr-MPRA regulatory region 5393 Neighboring gene KLHDC7B divergent transcript Neighboring gene synaptonemal complex central element protein 3 Neighboring gene uncharacterized LOC107985568 Neighboring gene CHKB-CPT1B readthrough (NMD candidate) Neighboring gene carnitine palmitoyltransferase 1B

Genomic regions, transcripts, and products

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC16635

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
kelch domain-containing protein 7B

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_138433.5NP_612442.3  kelch domain-containing protein 7B

    Status: VALIDATED

    Source sequence(s)
    AW014875, U62317
    Consensus CDS
    CCDS14097.3
    UniProtKB/TrEMBL
    A0A3B3ISF6
    Related
    ENSP00000497256.1, ENST00000648057.3
    Conserved Domains (3) summary
    sd00038
    Location:9861032
    Kelch; KELCH repeat [structural motif]
    cl26464
    Location:52421
    Atrophin-1; Atrophin-1 family
    cl28614
    Location:9661138
    BTB; Broad-Complex, Tramtrack and Bric a brac

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    50545899..50551023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    51056466..51061530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)