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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3852
Gene name Gene Name - the full gene name approved by the HGNC.	Keratin 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KRT5
Synonyms (NCBI Gene) Gene synonyms aliases	CK5, DDD, DDD1, EBS1, EBS2, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F, K5, KRT5A
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep

Show/Hide all(37)

SNP ID	Visualize variation	Clinical significance	Consequence
rs57348201	T>A,G	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs57499817	G>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57599352	A>G	Pathogenic	Missense variant, coding sequence variant
rs57890479	G>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58058996	A>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs58072617	A>G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58163069	C>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58619430	C>T	Pathogenic	Missense variant, coding sequence variant
rs58751565	G>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs59115483	C>T	Pathogenic	Missense variant, coding sequence variant
rs59190510	C>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs59730172	G>A,T	Not-provided, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs60271599	A>G	Pathogenic	Missense variant, coding sequence variant
rs60586163	G>A,C,T	Not-provided, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs60715293	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61126080	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs61297109	G>A,C,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61348424	->T	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs61348633	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs111448623	T>C,G	Likely-pathogenic	Intron variant
rs121912474	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs121912475	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121912476	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs267607448	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs267607451	C>G	Pathogenic	Missense variant, coding sequence variant
rs267607456	C>A,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs754242209	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs763608512	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs886039403	C>T	Pathogenic	Splice donor variant
rs1064793977	T>C	Pathogenic	Missense variant, initiator codon variant
rs1131691471	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1294665232	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1555156076	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555156100	TGTTCCTGGCATCCTTGAGGGCCAGCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555156480	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1565593355	C>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1592193619	->T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all(71)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000221	hsa-miR-196a-5p	Review	20026422
MIRT003353	hsa-miR-196b-5p	Review	20026422
MIRT000221	hsa-miR-196a-5p	Luciferase reporter assay, qRT-PCR	19342367
MIRT017843	hsa-miR-335-5p	Microarray	18185580
MIRT732780	hsa-let-7a-5p	Luciferase reporter assay, Western blotting	32965722
MIRT1101320	hsa-let-7a	CLIP-seq
MIRT1101321	hsa-let-7b	CLIP-seq
MIRT1101322	hsa-let-7c	CLIP-seq
MIRT1101323	hsa-let-7d	CLIP-seq
MIRT1101324	hsa-let-7e	CLIP-seq
MIRT1101325	hsa-let-7f	CLIP-seq
MIRT1101326	hsa-let-7g	CLIP-seq
MIRT1101327	hsa-let-7i	CLIP-seq
MIRT1101328	hsa-miR-103a	CLIP-seq
MIRT1101329	hsa-miR-107	CLIP-seq
MIRT1101330	hsa-miR-127-5p	CLIP-seq
MIRT1101331	hsa-miR-1299	CLIP-seq
MIRT1101332	hsa-miR-1301	CLIP-seq
MIRT1101333	hsa-miR-1343	CLIP-seq
MIRT1101334	hsa-miR-196a	CLIP-seq
MIRT1101335	hsa-miR-196b	CLIP-seq
MIRT1101336	hsa-miR-1976	CLIP-seq
MIRT1101337	hsa-miR-2682	CLIP-seq
MIRT1101338	hsa-miR-3122	CLIP-seq
MIRT1101339	hsa-miR-3164	CLIP-seq
MIRT1101340	hsa-miR-3170	CLIP-seq
MIRT1101341	hsa-miR-3202	CLIP-seq
MIRT1101342	hsa-miR-342-5p	CLIP-seq
MIRT1101343	hsa-miR-34a	CLIP-seq
MIRT1101344	hsa-miR-34c-5p	CLIP-seq
MIRT1101345	hsa-miR-3614-5p	CLIP-seq
MIRT1101346	hsa-miR-3675-5p	CLIP-seq
MIRT1101347	hsa-miR-3689d	CLIP-seq
MIRT1101348	hsa-miR-3714	CLIP-seq
MIRT1101349	hsa-miR-3913-5p	CLIP-seq
MIRT1101350	hsa-miR-4282	CLIP-seq
MIRT1101351	hsa-miR-4283	CLIP-seq
MIRT1101352	hsa-miR-4325	CLIP-seq
MIRT1101353	hsa-miR-4458	CLIP-seq
MIRT1101354	hsa-miR-4489	CLIP-seq
MIRT1101355	hsa-miR-4492	CLIP-seq
MIRT1101356	hsa-miR-4498	CLIP-seq
MIRT1101357	hsa-miR-449a	CLIP-seq
MIRT1101358	hsa-miR-449b	CLIP-seq
MIRT1101359	hsa-miR-449c	CLIP-seq
MIRT1101360	hsa-miR-4500	CLIP-seq
MIRT1101361	hsa-miR-4505	CLIP-seq
MIRT1101362	hsa-miR-450b-3p	CLIP-seq
MIRT1101363	hsa-miR-4533	CLIP-seq
MIRT1101364	hsa-miR-4646-5p	CLIP-seq
MIRT1101365	hsa-miR-4651	CLIP-seq
MIRT1101366	hsa-miR-4664-5p	CLIP-seq
MIRT1101367	hsa-miR-4782-5p	CLIP-seq
MIRT1101368	hsa-miR-4786-5p	CLIP-seq
MIRT1101369	hsa-miR-5047	CLIP-seq
MIRT1101370	hsa-miR-516b	CLIP-seq
MIRT1101371	hsa-miR-564	CLIP-seq
MIRT1101372	hsa-miR-608	CLIP-seq
MIRT1101373	hsa-miR-762	CLIP-seq
MIRT1101374	hsa-miR-769-3p	CLIP-seq
MIRT1101375	hsa-miR-890	CLIP-seq
MIRT1101376	hsa-miR-98	CLIP-seq
MIRT1556602	hsa-miR-1909	CLIP-seq
MIRT1556603	hsa-miR-214	CLIP-seq
MIRT1556604	hsa-miR-3619-5p	CLIP-seq
MIRT1556605	hsa-miR-4291	CLIP-seq
MIRT1556606	hsa-miR-4648	CLIP-seq
MIRT1556607	hsa-miR-4654	CLIP-seq
MIRT1556608	hsa-miR-4769-5p	CLIP-seq
MIRT1556609	hsa-miR-761	CLIP-seq
MIRT1556610	hsa-miR-922	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
BRCA1	Unknown	16241993;19882246
SP1	Activation	12024040
TFAP2A	Activation	12024040

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	7520042
GO:0005515	Function	Protein binding	IPI	10727209, 10852826, 15671067, 15731013, 22705788, 24940650, 25416956, 31995743, 32296183, 37671092
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IDA	20128788, 22170488
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IDA	10852826
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	TAS	7520042
GO:0008544	Process	Epidermis development	TAS	7520042
GO:0009612	Process	Response to mechanical stimulus	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030334	Process	Regulation of cell migration	ISS
GO:0031424	Process	Keratinization	IBA
GO:0032880	Process	Regulation of protein localization	ISS
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IDA	7679677, 22705788
GO:0045095	Component	Keratin filament	IEA
GO:0045107	Process	Intermediate filament polymerization	ISS
GO:0045109	Process	Intermediate filament organization	IBA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0097110	Function	Scaffold protein binding	IPI	10852826

MIM	HGNC	e!Ensembl
148040	6442	ENSG00000186081

Protein

UniProt ID

P13647

Protein name

Keratin, type II cytoskeletal 5 (58 kDa cytokeratin) (Cytokeratin-5) (CK-5) (Keratin-5) (K5) (Type-II keratin Kb5)

Protein function

Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress (By similarity). Regulates the recruitment of Langerhans cells to the epidermis, potentially

PDB

3TNU , 6JFV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16208	Keratin_2_head	16 → 164	Keratin type II head	Family
PF00038	Filament	167 → 480	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Expressed in corneal epithelium (at protein level) (PubMed:26758872). Expressed in keratinocytes (at protein level) (PubMed:20128788, PubMed:31302245). {ECO:0000269|PubMed:20128788, ECO:0000269|PubMed:26758872, ECO:0000269|PubMed:31302

Sequence

MSRQSSVSFRSGGSRSFSTASAITPSVSRTSFTSVSRSGGGGGGGFGRVSLAGACGVGGY
GSRSLYNLGGSKRISISTSGGSFRNRFGAGAGGGYGFGGGAGSGFGFGGGAGGGFGLGGG
AGFGGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPSIQRVRTEEREQIKTLNNKFA
SFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRL
DSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVDAAYMNKVELEAKVDALMDEI
NFMKMFFDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIANRSRTEAESW
YQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAEIDNVKKQCANLQNAIADAEQR
GELALKDARNKLAELEEALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGEECR
LSGEGVGPVNISVVTSSVSSGYGSGSGYGGGLGGGLGGGLGGGLAGGSSGSYYSSSSGGV
GLGGGLSVGGSGFSASSGRGLGVGFGSGGGSSSSVKFVSTTSSSRKSFKS

Sequence length

590

Interactions

View interactions

	Reactome
			Type I hemidesmosome assembly Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Epidermolysis Bullosa Simplex	Epidermolysis bullosa simplex 2B, generalized intermediate, epidermolysis bullosa simplex, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 1A, generalized severe, EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE	rs121912474, rs267607458, rs61297109, rs57499817, rs59243757, rs1555156076, rs60715293, rs62642056, rs1565593355, rs121912475, rs56922686, rs57599352, rs57348201, rs267607456, rs267607457 View all (9 more)	N/A
Epidermolysis Bullosa Simplex With Migratory Circinate Erythema	epidermolysis bullosa simplex with migratory circinate erythema	rs61126080	N/A

Show/Hide Unknown Diseases (3)

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.
Carcinoma	Basal cell carcinoma, Squamous cell carcinoma	N/A	N/A	GWAS
Dowling-Degos Disease	Dowling-Degos disease	N/A	N/A	GenCC
Neuroblastoma	Neuroblastoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (146)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
AA amyloidosis	Associate	23234252, 32861330
Achalasia Addisonianism Alacrimia syndrome	Associate	22431556
Adenocarcinoma	Associate	20068475, 22623086, 31880186, 35093316
Adenocarcinoma Mucinous	Associate	21699710
Adenocarcinoma of Lung	Associate	25337222, 31854219, 32360590
Adenolymphoma	Associate	22990554
Adenoma	Associate	22623086
Adenomatoid Tumor	Associate	19543245
Aicardi Syndrome	Associate	21577319
Airway Obstruction	Associate	19529775
Allergic Fungal Sinusitis	Associate	32977822
Ameloblastoma	Associate	28390135
Amyloidosis	Associate	23234252
Anal Gland Neoplasms	Associate	17683193
Angina Unstable	Associate	35437049
Blister	Associate	25961909, 32927888, 34643242, 35247839, 7534039, 9804357
Bohring syndrome	Associate	30613307
Breast Neoplasms	Associate	12429812, 16941011, 17263897, 18275599, 18536655, 18752049, 19434314, 19855377, 20104967, 20482762, 20492711, 20665103, 20818337, 21427063, 21596841 View all (24 more)
Breast Neoplasms	Stimulate	15990899
Cap Myopathy	Associate	26090004
Carcinoma	Associate	28528398
Carcinoma Basal Cell	Associate	1383350, 18752048, 19578363, 29135512, 31047981, 33893132, 37752769
Carcinoma in Situ	Associate	33650041
Carcinoma Intraductal Noninfiltrating	Associate	21118480, 23778411, 26397772, 27116088, 32467291
Carcinoma Mucoepidermoid	Associate	29434341
Carcinoma Non Small Cell Lung	Associate	20068475, 24244672, 30914778, 32965722, 34714841
Carcinoma Ovarian Epithelial	Associate	26495758
Carcinoma Pancreatic Ductal	Associate	36459568
Carcinoma Papillary	Associate	21076459, 29785016
Carcinoma Renal Cell	Associate	27031776
Carcinoma Renal Cell	Inhibit	35417384
Carcinoma Signet Ring Cell	Associate	23573317
Carcinoma Squamous Cell	Stimulate	12946229, 26124082
Carcinoma Squamous Cell	Associate	1379783, 16415794, 17348440, 19578363, 20855955, 22748473, 24327102, 28099906, 28528398, 30484070, 31752667, 31880186, 32170368, 32843061, 32977822, 35093316, 36776865 View all (2 more)
Carcinoma Squamous Cell	Inhibit	27399691
Carcinoma Transitional Cell	Associate	1689541
Cardiomyopathy infantile histiocytoid	Associate	19843013
Cell Transformation Neoplastic	Associate	28692043
Clear cell metastatic renal cell carcinoma	Associate	15608393
Cysts	Associate	22990554
Death	Stimulate	21801876
Death	Associate	28632777
Dermatitis Atopic	Associate	30787169
Diabetes Mellitus	Inhibit	28403359
Diabetes Mellitus	Associate	31615341
Disease	Associate	24372084
Dowling Degos Disease	Associate	16465624, 16917491, 24372084, 25157627
Dyskinesias	Associate	33225657
Dysplastic Nevus Syndrome	Associate	33225657
Ectodermal Dysplasia	Associate	24143938
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	11407989, 34680898, 35247839, 9036937
Endometrial Neoplasms	Associate	18567994
Eosinophilic Esophagitis	Stimulate	28104354
Epidermolysis Bullosa	Associate	1977802, 36578049, 38368142
Epidermolysis Bullosa Simplex	Associate	10383750, 10733662, 11407988, 11407989, 11710919, 11973334, 12648226, 12925204, 15102078, 15647384, 15982306, 16098032, 16417221, 17039244, 21490615 View all (26 more)
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema	Associate	16417221, 24104543
Epidermolysis bullosa simplex with mottled pigmentation	Associate	15982306, 9129237
Epidermolysis bullosa with pyloric atresia	Associate	30933721
Erythema	Associate	12925204
Fever	Associate	30909744
Fibrosis	Associate	35608953
Fibrosis	Stimulate	37230801
Food Hypersensitivity	Associate	30787169
Fragile X Syndrome	Associate	7534039
Genetic Diseases Inborn	Associate	11973334
Glucose Galactose Malabsorption	Associate	25633990
Hearing Loss Bilateral	Associate	24427357
Hepatitis B	Associate	24148581, 27472239
Hereditary Breast and Ovarian Cancer Syndrome	Associate	21076459
Hyperkeratosis Epidermolytic	Associate	12648226
Hyperplasia	Associate	21702904
Ichthyosis	Associate	9036937
Idiopathic Pulmonary Fibrosis	Stimulate	27423691
Idiopathic Pulmonary Fibrosis	Associate	35608953, 35681516, 37230801, 37758700
Inflammation	Associate	38065913
Lichenoid Eruptions	Associate	15764042
Lown Ganong Levine Syndrome	Associate	24148581
Lung Diseases	Associate	37758700
Lung Diseases Interstitial	Associate	33859634
Lung Neoplasms	Associate	31854219, 31880186
Lymphatic Metastasis	Inhibit	21396129
Lymphatic Metastasis	Associate	23359191, 25724181, 35255911
Lymphoma Non Hodgkin	Associate	34184816
Macules hereditary congenital hypopigmented and hyperpigmented	Associate	24964947
Melanoma	Associate	19578363, 33441834, 35054979
Mesothelioma	Associate	12194995, 15608393, 16056246, 16415794, 16554731, 18567994, 23041828
Mesothelioma Malignant	Associate	12194995, 28922567, 36557076
Mesothelioma Malignant	Stimulate	25400801
Mouth Diseases	Associate	33225657
Mouth Neoplasms	Associate	35673812
Myopathy Central Core	Stimulate	24632568
Nasopharyngeal Carcinoma	Associate	32382038
Necrosis	Associate	38065913
Neoplasm Invasiveness	Stimulate	16941011
Neoplasm Invasiveness	Associate	18536655, 29475913, 30380731
Neoplasm Metastasis	Associate	21427063, 30380731, 35054979, 35639459, 38065913
Neoplasms	Associate	11455036, 12429812, 1378696, 15990899, 16050957, 16341146, 17263897, 17650314, 17726467, 18275599, 19130459, 19995430, 20665103, 21427063, 21801876 View all (23 more)
Neoplasms Basal Cell	Associate	24143938
Neoplasms Cystic Mucinous and Serous	Associate	16056246, 18567994
Neoplasms Glandular and Epithelial	Associate	23264211
Neoplasms Mesothelial	Associate	15608393, 25337222
Neoplasms Squamous Cell	Associate	23827819, 32360590
Neoplastic Syndromes Hereditary	Associate	32283594
Non Muscle Invasive Bladder Neoplasms	Associate	29323757, 30380731, 31469885, 31500577, 33050010, 34184816, 34697907, 34707176, 37389960
Non Muscle Invasive Bladder Neoplasms	Inhibit	35563543
Odontoma	Associate	28390135
Otitis Media	Associate	22623086
Ovarian Neoplasms	Associate	28147318
Pancreatic Neoplasms	Associate	36788090
Papilloma	Associate	21076459
Patel Bixler syndrome	Associate	11407989
Periapical Diseases	Associate	23264211
Personality Disorders	Stimulate	33435173
Pigmentation Disorders	Associate	15982306, 16417221, 19578363, 24964947
Pleural Effusion	Associate	25337222
Prostatic Intraepithelial Neoplasia	Associate	9033282
Prostatic Neoplasms	Associate	38065913
Prostatic Neoplasms Castration Resistant	Stimulate	21365123
Prostatitis	Associate	38065913
Pulmonary Disease Chronic Obstructive	Stimulate	38286613
Pulmonary Fibrosis	Associate	37758700
Respiratory Tract Infections	Associate	28632777, 30699951
Retinal Dysplasia	Associate	33225657
Rupture	Associate	34643242
Salivary Duct Calculi	Associate	30390196
Sarcoma	Associate	12946229
Sclerosis	Associate	25989286
Sinonasal undifferentiated carcinoma	Associate	24832165
Skin Diseases Vesiculobullous	Associate	15647384
Squamous Cell Carcinoma of Head and Neck	Associate	28528398, 32468250
Squamous Intraepithelial Lesions	Associate	36476167
Status Asthmaticus	Associate	29843677
Stuttering	Associate	11973334
Tertiary Lymphoid Structures	Associate	20818337
Tertiary Lymphoid Structures	Inhibit	35639459
Triple Negative Breast Neoplasms	Associate	21496280, 21693047, 22638807, 22828374, 23392436, 23443971, 24390667, 24632568, 25179840, 25887482, 26930401, 26968553, 28294120, 28470571, 29475913 View all (6 more)
Triple Negative Breast Neoplasms	Inhibit	23082819
Triple Negative Breast Neoplasms	Stimulate	25966200
Urethral Neoplasms	Associate	23827819, 29249035, 29587848, 30699951
Urinary Bladder Diseases	Associate	35563543
Urinary Bladder Neoplasms	Associate	12778082, 29242529, 29587848, 29941343, 32546765, 33435173
Urologic Neoplasms	Associate	28632777, 35563543
Uterine Cervical Dysplasia	Associate	27399691
Uterine Cervical Neoplasms	Associate	1379783, 32843061
Wounds and Injuries	Associate	35247839
X Linked Combined Immunodeficiency Diseases	Associate	1378696

KRT5 (keratin 5)