Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23254
Gene name Gene Name - the full gene name approved by the HGNC.	Kazrin, periplakin interacting protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KAZN
Synonyms (NCBI Gene) Gene synonyms aliases	C1orf196, KAZ
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein locali

Show/Hide all(231)

miRTarBase ID	miRNA	Experiments
MIRT1079251	hsa-miR-103a	CLIP-seq
MIRT1079252	hsa-miR-106a	CLIP-seq
MIRT1079253	hsa-miR-106b	CLIP-seq
MIRT1079254	hsa-miR-107	CLIP-seq
MIRT1079255	hsa-miR-1178	CLIP-seq
MIRT1079256	hsa-miR-1182	CLIP-seq
MIRT1079257	hsa-miR-1225-5p	CLIP-seq
MIRT1079258	hsa-miR-1273g	CLIP-seq
MIRT1079259	hsa-miR-15a	CLIP-seq
MIRT1079260	hsa-miR-15b	CLIP-seq
MIRT1079261	hsa-miR-16	CLIP-seq
MIRT1079262	hsa-miR-17	CLIP-seq
MIRT1079263	hsa-miR-188-3p	CLIP-seq
MIRT1079264	hsa-miR-194	CLIP-seq
MIRT1079265	hsa-miR-195	CLIP-seq
MIRT1079266	hsa-miR-20a	CLIP-seq
MIRT1079267	hsa-miR-20b	CLIP-seq
MIRT1079268	hsa-miR-2113	CLIP-seq
MIRT1079269	hsa-miR-3065-3p	CLIP-seq
MIRT1079270	hsa-miR-3126-5p	CLIP-seq
MIRT1079271	hsa-miR-3132	CLIP-seq
MIRT1079272	hsa-miR-3148	CLIP-seq
MIRT1079273	hsa-miR-3164	CLIP-seq
MIRT1079274	hsa-miR-3178	CLIP-seq
MIRT1079275	hsa-miR-3180	CLIP-seq
MIRT1079276	hsa-miR-3180-3p	CLIP-seq
MIRT1079277	hsa-miR-3196	CLIP-seq
MIRT1079278	hsa-miR-3609	CLIP-seq
MIRT1079279	hsa-miR-3613-3p	CLIP-seq
MIRT1079280	hsa-miR-361-3p	CLIP-seq
MIRT1079281	hsa-miR-3663-5p	CLIP-seq
MIRT1079282	hsa-miR-377	CLIP-seq
MIRT1079283	hsa-miR-3913-3p	CLIP-seq
MIRT1079284	hsa-miR-424	CLIP-seq
MIRT1079285	hsa-miR-4259	CLIP-seq
MIRT1079286	hsa-miR-4281	CLIP-seq
MIRT1079287	hsa-miR-4321	CLIP-seq
MIRT1079288	hsa-miR-4433	CLIP-seq
MIRT1079289	hsa-miR-4436a	CLIP-seq
MIRT1079290	hsa-miR-4488	CLIP-seq
MIRT1079291	hsa-miR-4520b-3p	CLIP-seq
MIRT1079292	hsa-miR-4524	CLIP-seq
MIRT1079293	hsa-miR-4529-3p	CLIP-seq
MIRT1079294	hsa-miR-4668-5p	CLIP-seq
MIRT1079295	hsa-miR-4697-5p	CLIP-seq
MIRT1079296	hsa-miR-4716-3p	CLIP-seq
MIRT1079297	hsa-miR-4727-5p	CLIP-seq
MIRT1079298	hsa-miR-4728-5p	CLIP-seq
MIRT1079299	hsa-miR-4733-3p	CLIP-seq
MIRT1079300	hsa-miR-4769-3p	CLIP-seq
MIRT1079301	hsa-miR-4796-3p	CLIP-seq
MIRT1079302	hsa-miR-4797-5p	CLIP-seq
MIRT1079303	hsa-miR-4804-5p	CLIP-seq
MIRT1079304	hsa-miR-483-5p	CLIP-seq
MIRT1079305	hsa-miR-497	CLIP-seq
MIRT1079306	hsa-miR-503	CLIP-seq
MIRT1079307	hsa-miR-519d	CLIP-seq
MIRT1079308	hsa-miR-548ah	CLIP-seq
MIRT1079309	hsa-miR-625	CLIP-seq
MIRT1079310	hsa-miR-635	CLIP-seq
MIRT1079311	hsa-miR-646	CLIP-seq
MIRT1079312	hsa-miR-665	CLIP-seq
MIRT1079313	hsa-miR-759	CLIP-seq
MIRT1079314	hsa-miR-767-3p	CLIP-seq
MIRT1079315	hsa-miR-93	CLIP-seq
MIRT1079316	hsa-miR-943	CLIP-seq
MIRT1079251	hsa-miR-103a	CLIP-seq
MIRT1079254	hsa-miR-107	CLIP-seq
MIRT1079255	hsa-miR-1178	CLIP-seq
MIRT1079257	hsa-miR-1225-5p	CLIP-seq
MIRT1079317	hsa-miR-1252	CLIP-seq
MIRT1079318	hsa-miR-1254	CLIP-seq
MIRT1079319	hsa-miR-1273	CLIP-seq
MIRT1079320	hsa-miR-1293	CLIP-seq
MIRT1079321	hsa-miR-1297	CLIP-seq
MIRT1079322	hsa-miR-1305	CLIP-seq
MIRT1079259	hsa-miR-15a	CLIP-seq
MIRT1079260	hsa-miR-15b	CLIP-seq
MIRT1079261	hsa-miR-16	CLIP-seq
MIRT1079323	hsa-miR-185	CLIP-seq
MIRT1079324	hsa-miR-1909	CLIP-seq
MIRT1079325	hsa-miR-1910	CLIP-seq
MIRT1079264	hsa-miR-194	CLIP-seq
MIRT1079265	hsa-miR-195	CLIP-seq
MIRT1079326	hsa-miR-205	CLIP-seq
MIRT1079327	hsa-miR-26a	CLIP-seq
MIRT1079328	hsa-miR-26b	CLIP-seq
MIRT1079269	hsa-miR-3065-3p	CLIP-seq
MIRT1079329	hsa-miR-3116	CLIP-seq
MIRT1079271	hsa-miR-3132	CLIP-seq
MIRT1079330	hsa-miR-3173-3p	CLIP-seq
MIRT1079331	hsa-miR-3175	CLIP-seq
MIRT1079332	hsa-miR-326	CLIP-seq
MIRT1079333	hsa-miR-330-5p	CLIP-seq
MIRT1079334	hsa-miR-3614-5p	CLIP-seq
MIRT1079335	hsa-miR-3619-3p	CLIP-seq
MIRT1079336	hsa-miR-3676	CLIP-seq
MIRT1079282	hsa-miR-377	CLIP-seq
MIRT1079284	hsa-miR-424	CLIP-seq
MIRT1079337	hsa-miR-4254	CLIP-seq
MIRT1079338	hsa-miR-4257	CLIP-seq
MIRT1079285	hsa-miR-4259	CLIP-seq
MIRT1079339	hsa-miR-4274	CLIP-seq
MIRT1079340	hsa-miR-4275	CLIP-seq
MIRT1079341	hsa-miR-4300	CLIP-seq
MIRT1079342	hsa-miR-4306	CLIP-seq
MIRT1079343	hsa-miR-4419a	CLIP-seq
MIRT1079344	hsa-miR-4428	CLIP-seq
MIRT1079288	hsa-miR-4433	CLIP-seq
MIRT1079289	hsa-miR-4436a	CLIP-seq
MIRT1079345	hsa-miR-4465	CLIP-seq
MIRT1079346	hsa-miR-4483	CLIP-seq
MIRT1079347	hsa-miR-4510	CLIP-seq
MIRT1079291	hsa-miR-4520b-3p	CLIP-seq
MIRT1079292	hsa-miR-4524	CLIP-seq
MIRT1079293	hsa-miR-4529-3p	CLIP-seq
MIRT1079348	hsa-miR-4535	CLIP-seq
MIRT1079349	hsa-miR-4636	CLIP-seq
MIRT1079350	hsa-miR-4644	CLIP-seq
MIRT1079351	hsa-miR-4672	CLIP-seq
MIRT1079352	hsa-miR-4699-3p	CLIP-seq
MIRT1079297	hsa-miR-4727-5p	CLIP-seq
MIRT1079353	hsa-miR-4747-5p	CLIP-seq
MIRT1079300	hsa-miR-4769-3p	CLIP-seq
MIRT1079354	hsa-miR-4776-5p	CLIP-seq
MIRT1079355	hsa-miR-4779	CLIP-seq
MIRT1079302	hsa-miR-4797-5p	CLIP-seq
MIRT1079304	hsa-miR-483-5p	CLIP-seq
MIRT1079305	hsa-miR-497	CLIP-seq
MIRT1079356	hsa-miR-498	CLIP-seq
MIRT1079357	hsa-miR-499-3p	CLIP-seq
MIRT1079358	hsa-miR-499a-3p	CLIP-seq
MIRT1079306	hsa-miR-503	CLIP-seq
MIRT1079359	hsa-miR-5096	CLIP-seq
MIRT1079360	hsa-miR-520d-5p	CLIP-seq
MIRT1079361	hsa-miR-524-5p	CLIP-seq
MIRT1079311	hsa-miR-646	CLIP-seq
MIRT1079312	hsa-miR-665	CLIP-seq
MIRT1079362	hsa-miR-765	CLIP-seq
MIRT1079314	hsa-miR-767-3p	CLIP-seq
MIRT1079363	hsa-miR-920	CLIP-seq
MIRT1079316	hsa-miR-943	CLIP-seq
MIRT738601	hsa-miR-3064-3p	CLIP-seq
MIRT738603	hsa-miR-4317	CLIP-seq
MIRT738602	hsa-miR-4715-3p	CLIP-seq
MIRT738601	hsa-miR-3064-3p	CLIP-seq
MIRT738603	hsa-miR-4317	CLIP-seq
MIRT738602	hsa-miR-4715-3p	CLIP-seq
MIRT2019738	hsa-miR-1202	CLIP-seq
MIRT2019739	hsa-miR-1227	CLIP-seq
MIRT1079268	hsa-miR-2113	CLIP-seq
MIRT2019740	hsa-miR-3194-5p	CLIP-seq
MIRT1079282	hsa-miR-377	CLIP-seq
MIRT2019741	hsa-miR-3972	CLIP-seq
MIRT2019742	hsa-miR-4738-5p	CLIP-seq
MIRT1079302	hsa-miR-4797-5p	CLIP-seq
MIRT1079256	hsa-miR-1182	CLIP-seq
MIRT2251639	hsa-miR-1224-3p	CLIP-seq
MIRT1079319	hsa-miR-1273	CLIP-seq
MIRT1079320	hsa-miR-1293	CLIP-seq
MIRT1079323	hsa-miR-185	CLIP-seq
MIRT1079263	hsa-miR-188-3p	CLIP-seq
MIRT1079324	hsa-miR-1909	CLIP-seq
MIRT1079270	hsa-miR-3126-5p	CLIP-seq
MIRT1079331	hsa-miR-3175	CLIP-seq
MIRT1079275	hsa-miR-3180	CLIP-seq
MIRT1079276	hsa-miR-3180-3p	CLIP-seq
MIRT2251640	hsa-miR-3185	CLIP-seq
MIRT1079277	hsa-miR-3196	CLIP-seq
MIRT1079332	hsa-miR-326	CLIP-seq
MIRT1079333	hsa-miR-330-5p	CLIP-seq
MIRT1079279	hsa-miR-3613-3p	CLIP-seq
MIRT2251641	hsa-miR-3660	CLIP-seq
MIRT1079281	hsa-miR-3663-5p	CLIP-seq
MIRT1079282	hsa-miR-377	CLIP-seq
MIRT1079283	hsa-miR-3913-3p	CLIP-seq
MIRT2251642	hsa-miR-421	CLIP-seq
MIRT1079338	hsa-miR-4257	CLIP-seq
MIRT1079340	hsa-miR-4275	CLIP-seq
MIRT1079286	hsa-miR-4281	CLIP-seq
MIRT1079341	hsa-miR-4300	CLIP-seq
MIRT1079342	hsa-miR-4306	CLIP-seq
MIRT1079287	hsa-miR-4321	CLIP-seq
MIRT1079288	hsa-miR-4433	CLIP-seq
MIRT1079289	hsa-miR-4436a	CLIP-seq
MIRT1079346	hsa-miR-4483	CLIP-seq
MIRT1079291	hsa-miR-4520b-3p	CLIP-seq
MIRT1079292	hsa-miR-4524	CLIP-seq
MIRT2251643	hsa-miR-4526	CLIP-seq
MIRT1079293	hsa-miR-4529-3p	CLIP-seq
MIRT1079349	hsa-miR-4636	CLIP-seq
MIRT1079350	hsa-miR-4644	CLIP-seq
MIRT2251644	hsa-miR-4709-5p	CLIP-seq
MIRT1079297	hsa-miR-4727-5p	CLIP-seq
MIRT1079298	hsa-miR-4728-5p	CLIP-seq
MIRT1079353	hsa-miR-4747-5p	CLIP-seq
MIRT1079300	hsa-miR-4769-3p	CLIP-seq
MIRT1079302	hsa-miR-4797-5p	CLIP-seq
MIRT1079303	hsa-miR-4804-5p	CLIP-seq
MIRT1079304	hsa-miR-483-5p	CLIP-seq
MIRT1079357	hsa-miR-499-3p	CLIP-seq
MIRT1079358	hsa-miR-499a-3p	CLIP-seq
MIRT2251645	hsa-miR-505	CLIP-seq
MIRT1079312	hsa-miR-665	CLIP-seq
MIRT1079363	hsa-miR-920	CLIP-seq
MIRT2389584	hsa-miR-1205	CLIP-seq
MIRT2389585	hsa-miR-1228	CLIP-seq
MIRT2389586	hsa-miR-1321	CLIP-seq
MIRT1079324	hsa-miR-1909	CLIP-seq
MIRT2389587	hsa-miR-3176	CLIP-seq
MIRT1079282	hsa-miR-377	CLIP-seq
MIRT2389588	hsa-miR-3922-3p	CLIP-seq
MIRT2389589	hsa-miR-3928	CLIP-seq
MIRT2389590	hsa-miR-4270	CLIP-seq
MIRT2389591	hsa-miR-4292	CLIP-seq
MIRT2389592	hsa-miR-4441	CLIP-seq
MIRT1079290	hsa-miR-4488	CLIP-seq
MIRT1079295	hsa-miR-4697-5p	CLIP-seq
MIRT1079299	hsa-miR-4733-3p	CLIP-seq
MIRT2389593	hsa-miR-4739	CLIP-seq
MIRT2389594	hsa-miR-4756-5p	CLIP-seq
MIRT2554947	hsa-miR-1538	CLIP-seq
MIRT2554948	hsa-miR-328	CLIP-seq
MIRT2554949	hsa-miR-3922-5p	CLIP-seq
MIRT2554950	hsa-miR-4745-3p	CLIP-seq
MIRT2683196	hsa-miR-3065-5p	CLIP-seq
MIRT1079283	hsa-miR-3913-3p	CLIP-seq
MIRT2683197	hsa-miR-4464	CLIP-seq
MIRT2683198	hsa-miR-4748	CLIP-seq
MIRT1079357	hsa-miR-499-3p	CLIP-seq
MIRT1079358	hsa-miR-499a-3p	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA	15337775
GO:0005515	Function	Protein binding	IPI	21653829, 25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030057	Component	Desmosome	IDA	15337775
GO:0030057	Component	Desmosome	IEA
GO:0031424	Process	Keratinization	IEA
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
618301	29173	ENSG00000189337

Protein

UniProt ID

Q674X7

Protein name

Kazrin

Protein function

Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00536	SAM_1	444 → 509	SAM domain (Sterile alpha motif)	Domain
PF00536	SAM_1	524 → 585	SAM domain (Sterile alpha motif)	Domain
PF07647	SAM_2	609 → 672	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 2, isoform 3 and isoform 4 are expressed in several cell lines including keratinocytes and bladder and epidermoid carcinoma (at protein level). Isoform 2, isoform 3 and isoform 4 are expressed in hair follicle and interfollicul

Sequence

MMEDNKQLALRIDGAVQSASQEVTNLRAELTATNRRLAELSGGGGPGPGPGAAASASAAG
DSAATNMENPQLGAQVLLREEVSRLQEEVHLLRQMKEMLAKDLEESQGGKSSEVLSATEL
RVQLAQKEQELARAKEALQAMKADRKRLKGEKTDLVSQMQQLYATLESREEQLRDFIRNY
EQHRKESEDAVKALAKEKDLLEREKWELRRQAKEATDHATALRSQLDLKDNRMKELEAEL
AMAKQSLATLTKDVPKRHSLAMPGETVLNGNQEWVVQADLPLTAAIRQSQQTLYHSHPPH
PADRQAVRVSPCHSRQPSVISDASAAEGDRSSTPSDINSPRHRTHSLCNGDSPGPVQKNL
HNPIVQSLEDLEDQKRKKKKEKMGFGSISRVFARGKQRKSLDPGLFDDSDSQCSPTRQSL
SLSEGEEQMDRLQQVELVRTTPMSHWKAGTVQAWLEVVMAMPMYVKACTENVKSGKVLLS
LSDEDLQLGLGVCSSLHRRKLRLAIEDYRDAEAGRSLSKAAELDHHWVAKAWLNDIGLSQ
YSQAFQNHLVDGRMLNSLMKRDLEKHLNVSKKFHQVSILLGIELLYQVNFSREALQERRA
RCETQNIDPVVWTNQRVLKWVRDIDLKEYADNLTNSGVHGAVLVLEPTFNAEAMATALGI
PSGKHILRRHLAEEMSAVFHPANSTGIREAERFGTPPGRASSVTRAGKEENSSGLKYKAG
RLPLGKIGRGFSSKDPDFHDDYGSLQNEDCGDDDPQSRLEQCRLEGYNSLEVTNV

Sequence length

775

Interactions

View interactions

	Reactome
			Formation of the cornified envelope

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes, Acute ischemic stroke x type 2 diabetes interaction	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Leprosy	Leprosy	N/A	N/A	GWAS
Moyamoya Disease	Moyamoya disease	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Stress Disorder	Post-traumatic stress disorder	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bartter Syndrome	Associate	21937999
Carcinoma Hepatocellular	Associate	38302914
Carcinoma Ovarian Epithelial	Associate	35710397
Colorectal Neoplasms	Associate	36171645
Endometriosis	Associate	30044155
Fibrosis	Associate	38302914
Neoplasms	Associate	34859285, 35710397
Nonsyndromic sensorineural hearing loss	Associate	21937999
Ovarian Neoplasms	Associate	35710397
Psoriasis	Associate	30092825
Squamous Cell Carcinoma of Head and Neck	Associate	33618612

KAZN (kazrin, periplakin interacting protein)