KRT76 keratin 76 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT76provided by HGNC
Official Full Name: keratin 76provided by HGNC
Primary source: HGNC:HGNC:24430
See related: Ensembl:ENSG00000185069 MIM:616671; AllianceGenome:HGNC:24430
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: KRT2B; KRT2P; HUMCYT2A
Summary: Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009]
Expression: Low expression observed in reference dataset See more
Orthologs: 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 (52768155..52777345, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52732608..52741798, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53161939..53171129, 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
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?

K2P2.1 is a regulator of inflammatory cell responses in idiopathic inflammatory myopathies.
Title: K(2P)2.1 is a regulator of inflammatory cell responses in idiopathic inflammatory myopathies.
Data shows that immunomodulatory role of Keratin 76 in oral and gastric cancer.
Title: Immunomodulatory role of Keratin 76 in oral and gastric 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

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

D12S1935 (e-PCR)
- UniSTS:28303

G15846 (e-PCR)
- UniSTS:12468

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

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
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
involved_in pigmentation	IEA Inferred from Electronic Annotation more info
involved_in sebaceous gland development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in intermediate filament	NAS Non-traceable Author Statement more info	PubMed
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: keratin, type II cytoskeletal 2 oral

Names: CK-2P; K2P; K76; cytokeratin 2; cytokeratin-2P; keratin 2p; keratin 76, type II; type-II keratin Kb9

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_012420.1 RefSeqGene

Range

5001..14191

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015848.4 → NP_056932.2 keratin, type II cytoskeletal 2 oral

See identical proteins and their annotated locations for NP_056932.2

Status: REVIEWED

Source sequence(s)

AK299390, M99063

Consensus CDS

CCDS8838.1

UniProtKB/Swiss-Prot

B4DRR3, Q01546, Q7Z795

Related

ENSP00000330101.2, ENST00000332411.2

Conserved Domains (3) summary

pfam00038
Location:182 → 495

Filament; Intermediate filament protein

pfam16208
Location:16 → 179

Keratin_2_head; Keratin type II head

cl23720
Location:408 → 469

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)