KRT82 keratin 82 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT82provided by HGNC
Official Full Name: keratin 82provided by HGNC
Primary source: HGNC:HGNC:6459
See related: Ensembl:ENSG00000161850 MIM:601078; AllianceGenome:HGNC:6459
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HB2; Hb-2; KRTHB2
Summary: The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52393931..52406335, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52357844..52370247, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52787715..52800119, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.
Title: Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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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Markers

NoName (e-PCR)
- UniSTS:480785

NoName (e-PCR)
- UniSTS:484314

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of skin epidermis	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of skin epidermis	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in keratin filament	IDA Inferred from Direct Assay more info	PubMed
located_in keratin filament	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: keratin, type II cuticular Hb2

Names: K82; hard keratin, type II, 2; keratin 82, type II; keratin, hair, basic, 2; type II hair keratin Hb2; type-II keratin Kb22

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

NG_012298.1 RefSeqGene

Range

5058..17462

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_033033.4 → NP_149022.3 keratin, type II cuticular Hb2

See identical proteins and their annotated locations for NP_149022.3

Status: REVIEWED

Source sequence(s)

AC078865

Consensus CDS

CCDS8826.1

UniProtKB/Swiss-Prot

Q9NSB4

UniProtKB/TrEMBL

Q701L7

Related

ENSP00000257974.3, ENST00000257974.3

Conserved Domains (3) summary

pfam00038
Location:120 → 430

Filament; Intermediate filament protein

pfam16208
Location:61 → 116

Keratin_2_head; Keratin type II head

cl12057
Location:327 → 396

Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain