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

Summary

Official Symbol: KLHDC7Bprovided by HGNC
Official Full Name: kelch domain containing 7Bprovided by HGNC
Primary source: HGNC:HGNC:25145
See related: Ensembl:ENSG00000130487 MIM:620521; 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: mouse all
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Genomic context

Location:: 22q13.33

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (50545899..50551023)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (51056466..51061530)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (50984328..50989452)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KLHDC7B as a novel diagnostic biomarker in urine exosomal mRNA promotes bladder urothelial carcinoma cell proliferation and migration, inhibits apoptosis.
Title: KLHDC7B as a novel diagnostic biomarker in urine exosomal mRNA promotes bladder urothelial carcinoma cell proliferation and migration, inhibits apoptosis.
HPV E7 affects the function of cervical cancer cells via the TAL1/lncEBIC/KLHDC7B axis.
Title: HPV E7 affects the function of cervical cancer cells via the TAL1/lnc‑EBIC/KLHDC7B axis.
Hs.137007 gene is a novel gene specifically expressed in the breast that has a role in epigenetic regulation of breast cancer [Hs.137007]
Title: Hs.137007 is a novel epigenetic marker hypermethylated and up-regulated in breast cancer.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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

General protein information

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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)

NM_138433.5 → NP_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:986 → 1032

Kelch; KELCH repeat [structural motif]

cl26464
Location:52 → 421

Atrophin-1; Atrophin-1 family

cl28614
Location:966 → 1138

BTB; Broad-Complex, Tramtrack and Bric a brac