KRT12 (keratin 12) - Rat Genome Database

Name: KRT12
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: KRT12 (keratin 12) Homo sapiens

Analyze

Symbol:

KRT12

Name:

keratin 12

RGD ID:

1312464

HGNC Page

HGNC:6414

Description:

Predicted to enable structural molecule activity. Involved in cornea development in camera-type eye and morphogenesis of an epithelium. Located in extracellular exosome. Implicated in Meesmann corneal dystrophy 1 and corneal dystrophy.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CK-12; cytokeratin-12; K12; keratin 12, type I; keratin, type I cytoskeletal 12; keratin-12; MECD1

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Krt12 (keratin 12)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Krt12 (keratin 12)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Pan paniscus (bonobo/pygmy chimpanzee):	KRT12 (keratin 12)	NCBI	Ortholog
Canis lupus familiaris (dog):	KRT12 (keratin 12)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	LOC101971892 (keratin, type I cytoskeletal 12)	NCBI	Ortholog
Sus scrofa (pig):	KRT12 (keratin 12)	HGNC	Ensembl, Inparanoid, NCBI, OMA, Panther, Treefam
Chlorocebus sabaeus (green monkey):	KRT12 (keratin 12)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Cpped1 (calcineurin-like phosphoesterase domain containing 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Krt12 (keratin 12)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Krt12 (keratin 12)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	krtt1c19e (keratin type 1 c19e)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	cyt1 (type I cytokeratin, enveloping layer)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	krt1-19d (keratin, type 1, gene 19d)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	krt92 (keratin 92)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	krt97 (keratin 97)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	cyt1l (type I cytokeratin, enveloping layer, like)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	krt91 (keratin 91)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	krt17 (keratin 17)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	krt96 (keratin 96)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	krt15 (keratin 15)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	krt12.5.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	krt12.5.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	krt12.4.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	krt12.1.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	krt12.4.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	40,861,303 - 40,867,223 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	40,861,303 - 40,867,223 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	39,017,555 - 39,023,475 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	36,270,956 - 36,276,988 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	36,271,080 - 36,276,988	NCBI
Celera	17	35,678,983 - 35,685,022 (-)	NCBI		Celera
Cytogenetic Map	17	q21.2	NCBI
HuRef	17	34,811,768 - 34,817,815 (-)	NCBI		HuRef
CHM1_1	17	39,252,770 - 39,258,802 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	41,725,618 - 41,731,542 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

corneal dystrophy (IAGP)

genetic disease (IAGP)

Meesmann corneal dystrophy (EXP)

Meesmann corneal dystrophy 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,3,7,8-tetrachlorodibenzodioxine (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

cerium trichloride (ISO)

CGP 52608 (EXP)

cisplatin (ISO)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

crocidolite asbestos (ISO)

dimethylarsinic acid (ISO)

diuron (ISO)

formaldehyde (ISO)

lipopolysaccharide (EXP)

methylarsonic acid (ISO)

paracetamol (EXP)

pirinixic acid (ISO)

progesterone (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

sodium arsenate (ISO)

sodium arsenite (ISO)

sodium dichromate (ISO)

titanium dioxide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cornea development in camera-type eye (IMP,ISO)

epithelial cell differentiation (IBA)

epithelium development (ISO)

intermediate filament organization (IBA)

morphogenesis of an epithelium (IBA,IMP)

visual perception (TAS)

Cellular Component

cytoskeleton (IBA)

cytosol (TAS)

extracellular exosome (HDA)

intermediate filament (IEA)

Molecular Function

structural molecule activity (IEA,NAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal dominant inheritance (IAGP)

Corneal dystrophy (IAGP)

Epiphora (IAGP)

Nonprogressive (IAGP)

Photophobia (IAGP)

Punctate opacification of the cornea (IAGP)

Reduced visual acuity (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.	Irvine AD, etal., Nat Genet. 1997 Jun;16(2):184-7.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:8759347	PMID:9399908	PMID:10644419	PMID:10781519	PMID:12543196	PMID:12665801	PMID:15148206	PMID:16227835	PMID:16352477	PMID:16831889	PMID:17653038	PMID:18245975
PMID:18661274	PMID:19199708	PMID:19380743	PMID:20577595	PMID:21800051	PMID:21873635	PMID:23222558	PMID:23233254	PMID:23569037	PMID:24099278	PMID:24801514	PMID:26758872
PMID:26899008	PMID:27507811	PMID:27591049	PMID:28567551	PMID:29162348	PMID:30535821	PMID:31324722	PMID:32780723

Genomics

Comparative Map Data

KRT12
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	40,861,303 - 40,867,223 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	40,861,303 - 40,867,223 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	39,017,555 - 39,023,475 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	36,270,956 - 36,276,988 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	36,271,080 - 36,276,988	NCBI
Celera	17	35,678,983 - 35,685,022 (-)	NCBI		Celera
Cytogenetic Map	17	q21.2	NCBI
HuRef	17	34,811,768 - 34,817,815 (-)	NCBI		HuRef
CHM1_1	17	39,252,770 - 39,258,802 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	41,725,618 - 41,731,542 (-)	NCBI		T2T-CHM13v2.0

Krt12
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	99,306,490 - 99,313,419 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	99,306,492 - 99,313,085 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	99,415,664 - 99,422,593 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	99,415,666 - 99,422,259 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	99,276,978 - 99,283,573 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	99,231,756 - 99,238,346 (-)	NCBI		MGSCv36	mm8
Celera	11	111,952,955 - 111,954,261 (+)	NCBI		Celera
Celera	11	111,682,897 - 111,684,405 (+)	NCBI		Celera
Cytogenetic Map	11	D	NCBI
cM Map	11	62.92	NCBI

Krt12
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	84,866,965 - 84,874,265 (-)	NCBI		GRCr8
mRatBN7.2	10	84,370,803 - 84,378,103 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	84,370,883 - 84,378,045 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	89,314,464 - 89,321,785 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	88,812,593 - 88,819,914 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	84,204,563 - 84,211,884 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	87,328,547 - 87,336,710 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	87,328,549 - 87,335,823 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	87,124,333 - 87,132,201 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	88,321,126 - 88,328,759 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	88,335,495 - 88,343,129 (-)	NCBI
Celera	10	83,110,103 - 83,116,993 (-)	NCBI		Celera
Cytogenetic Map	10	q31	NCBI

KRT12
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	19	24,085,202 - 24,093,635 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	25,970,876 - 25,984,070 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	16,414,985 - 16,423,417 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	16,642,038 - 16,648,124 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	16,642,038 - 16,648,124 (+)	Ensembl	panpan1.1		panPan2

KRT12
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	21,823,976 - 21,829,557 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	21,823,976 - 21,829,550 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	21,296,821 - 21,302,404 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	22,616,626 - 22,622,208 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	22,616,626 - 22,622,201 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	21,391,112 - 21,396,693 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	21,649,850 - 21,655,431 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	21,774,332 - 21,779,951 (+)	NCBI		UU_Cfam_GSD_1.0

LOC101971892
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	21,250,526 - 21,254,399 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936490	15,820,678 - 15,824,743 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936490	15,820,754 - 15,824,611 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

KRT12
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	21,599,563 - 21,606,912 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	21,600,163 - 21,607,268 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	21,879,833 - 21,886,530 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

KRT12
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	16	65,316,412 - 65,322,890 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	65,316,251 - 65,322,704 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	36,195,840 - 36,201,875 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in KRT12
51 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000223.4(KRT12):c.404G>C (p.Arg135Thr)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV000008383]\|not provided [RCV000056421]	Chr17:40866783 [GRCh38] Chr17:39023035 [GRCh37] Chr17:17q21.2	pathogenic\|not provided
NM_000223.4(KRT12):c.427G>C (p.Val143Leu)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV000008384]\|not provided [RCV000056426]	Chr17:40866760 [GRCh38] Chr17:39023012 [GRCh37] Chr17:17q21.2	pathogenic\|not provided
NM_000223.4(KRT12):c.403A>G (p.Arg135Gly)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV000008385]\|not provided [RCV000056420]	Chr17:40866784 [GRCh38] Chr17:39023036 [GRCh37] Chr17:17q21.2	pathogenic\|not provided
NM_000223.4(KRT12):c.404G>T (p.Arg135Ile)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV000008386]\|not provided [RCV000056422]	Chr17:40866783 [GRCh38] Chr17:39023035 [GRCh37] Chr17:17q21.2	pathogenic\|not provided
NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV000008387]\|not provided [RCV000056412]	Chr17:40863154 [GRCh38] Chr17:39019406 [GRCh37] Chr17:17q21.2	pathogenic\|not provided
NM_000223.4(KRT12):c.419T>G (p.Leu140Arg)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV000008388]\|not provided [RCV000056425]	Chr17:40866768 [GRCh38] Chr17:39023020 [GRCh37] Chr17:17q21.2	pathogenic\|not provided
NM_000223.4(KRT12):c.386T>C (p.Met129Thr)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV000008389]\|not provided [RCV000056417]	Chr17:40866801 [GRCh38] Chr17:39023053 [GRCh37] Chr17:17q21.2	pathogenic\|not provided
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	copy number gain	See cases [RCV000050957]	Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2	pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|See cases [RCV000052483]	Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3	pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	copy number gain	See cases [RCV000052479]	Chr17:39199873..45629579 [GRCh38] Chr17:37356126..43706945 [GRCh37] Chr17:34609652..41062728 [NCBI36] Chr17:17q12-21.31	pathogenic
NM_000223.3(KRT12):c.*360A>C	single nucleotide variant	not provided [RCV000056409]	Chr17:40861301 [GRCh38] Chr17:39017553 [GRCh37] Chr17:17q21.2	not provided
NM_000223.4(KRT12):c.1276A>G (p.Ile426Val)	single nucleotide variant	not provided [RCV000056410]	Chr17:40863163 [GRCh38] Chr17:39019415 [GRCh37] Chr17:17q21.2	not provided
NM_000223.4(KRT12):c.1277T>G (p.Ile426Ser)	single nucleotide variant	not provided [RCV000056411]	Chr17:40863162 [GRCh38] Chr17:39019414 [GRCh37] Chr17:17q21.2	not provided
NM_000223.4(KRT12):c.1286A>G (p.Tyr429Cys)	single nucleotide variant	not provided [RCV000056413]	Chr17:40863153 [GRCh38] Chr17:39019405 [GRCh37] Chr17:17q21.2	not provided
NM_000223.4(KRT12):c.1289G>C (p.Arg430Pro)	single nucleotide variant	not provided [RCV000056414]	Chr17:40863150 [GRCh38] Chr17:39019402 [GRCh37] Chr17:17q21.2	not provided
NM_000223.4(KRT12):c.1298T>G (p.Leu433Arg)	single nucleotide variant	not provided [RCV000056415]	Chr17:40863141 [GRCh38] Chr17:39019393 [GRCh37] Chr17:17q21.2	not provided
NM_000223.4(KRT12):c.385A>G (p.Met129Val)	single nucleotide variant	Inborn genetic diseases [RCV000623893]\|not provided [RCV000056416]	Chr17:40866802 [GRCh38] Chr17:39023054 [GRCh37] Chr17:17q21.2	likely pathogenic\|not provided
NM_000223.4(KRT12):c.389A>C (p.Gln130Pro)	single nucleotide variant	not provided [RCV000056418]	Chr17:40866798 [GRCh38] Chr17:39023050 [GRCh37] Chr17:17q21.2	not provided
NM_000223.4(KRT12):c.399T>G (p.Asn133Lys)	single nucleotide variant	not provided [RCV000056419]	Chr17:40866788 [GRCh38] Chr17:39023040 [GRCh37] Chr17:17q21.2	likely pathogenic\|not provided
NM_000223.4(KRT12):c.405A>C (p.Arg135Ser)	single nucleotide variant	not provided [RCV000056423]	Chr17:40866782 [GRCh38] Chr17:39023034 [GRCh37] Chr17:17q21.2	not provided
NM_000223.4(KRT12):c.409G>C (p.Ala137Pro)	single nucleotide variant	not provided [RCV000056424]	Chr17:40866778 [GRCh38] Chr17:39023030 [GRCh37] Chr17:17q21.2	not provided
NM_000223.4(KRT12):c.427G>T (p.Val143Leu)	single nucleotide variant	not provided [RCV000056427]	Chr17:40866760 [GRCh38] Chr17:39023012 [GRCh37] Chr17:17q21.2	not provided
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV001730494]\|not provided [RCV000056428]	Chr17:40867144 [GRCh38] Chr17:39023396 [GRCh37] Chr17:17q21.2	benign\|not provided
NM_000223.4(KRT12):c.55C>T (p.Arg19Trp)	single nucleotide variant	not provided [RCV000056429]	Chr17:40867132 [GRCh38] Chr17:39023384 [GRCh37] Chr17:17q21.2	not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	copy number gain	See cases [RCV000137437]	Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1	pathogenic
NM_000223.4(KRT12):c.395T>C (p.Leu132Pro)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV000252858]	Chr17:40866792 [GRCh38] Chr17:39023044 [GRCh37] Chr17:17q21.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_000223.4(KRT12):c.664C>T (p.Leu222=)	single nucleotide variant	not provided [RCV000906497]	Chr17:40864949 [GRCh38] Chr17:39021201 [GRCh37] Chr17:17q21.2	benign
NM_000223.4(KRT12):c.748G>C (p.Glu250Gln)	single nucleotide variant	not provided [RCV000949821]	Chr17:40864865 [GRCh38] Chr17:39021117 [GRCh37] Chr17:17q21.2	benign
NM_000223.4(KRT12):c.741C>T (p.Thr247=)	single nucleotide variant	not provided [RCV000906030]	Chr17:40864872 [GRCh38] Chr17:39021124 [GRCh37] Chr17:17q21.2	benign
NM_000223.4(KRT12):c.902T>C (p.Met301Thr)	single nucleotide variant	KRT12-related condition [RCV003940795]\|not provided [RCV000897419]	Chr17:40863770 [GRCh38] Chr17:39020022 [GRCh37] Chr17:17q21.2	likely benign
NM_000223.4(KRT12):c.728C>T (p.Thr243Ile)	single nucleotide variant	KRT12-related condition [RCV003930776]\|not provided [RCV000890461]	Chr17:40864885 [GRCh38] Chr17:39021137 [GRCh37] Chr17:17q21.2	likely benign
NM_000223.4(KRT12):c.382A>G (p.Thr128Ala)	single nucleotide variant	Inborn genetic diseases [RCV002559317]\|not provided [RCV001444446]	Chr17:40866805 [GRCh38] Chr17:39023057 [GRCh37] Chr17:17q21.2	likely benign\|uncertain significance
NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu)	deletion	Corneal dystrophy, Meesmann, 1 [RCV001731222]	Chr17:40863280..40863291 [GRCh38] Chr17:39019532..39019543 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.1151T>C (p.Leu384Pro)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV001731223]	Chr17:40863288 [GRCh38] Chr17:39019540 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.58C>T (p.Arg20Trp)	single nucleotide variant	not provided [RCV002104715]	Chr17:40867129 [GRCh38] Chr17:39023381 [GRCh37] Chr17:17q21.2	benign
NM_000223.4(KRT12):c.993_994dup (p.Ser332fs)	duplication	not specified [RCV002247942]	Chr17:40863585..40863586 [GRCh38] Chr17:39019837..39019838 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.164dup (p.Gly56fs)	duplication	not provided [RCV002276046]	Chr17:40867022..40867023 [GRCh38] Chr17:39023274..39023275 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.1316G>A (p.Gly439Asp)	single nucleotide variant	not provided [RCV003129540]	Chr17:40863123 [GRCh38] Chr17:39019375 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.872G>T (p.Gly291Val)	single nucleotide variant	Inborn genetic diseases [RCV002837357]	Chr17:40863800 [GRCh38] Chr17:39020052 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.1436A>G (p.Asn479Ser)	single nucleotide variant	Inborn genetic diseases [RCV002686836]	Chr17:40861710 [GRCh38] Chr17:39017962 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.767T>C (p.Leu256Pro)	single nucleotide variant	Inborn genetic diseases [RCV002945409]	Chr17:40864846 [GRCh38] Chr17:39021098 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.742G>A (p.Asp248Asn)	single nucleotide variant	not provided [RCV002979171]	Chr17:40864871 [GRCh38] Chr17:39021123 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.540T>G (p.Tyr180Ter)	single nucleotide variant	not provided [RCV002867131]	Chr17:40866647 [GRCh38] Chr17:39022899 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.1309G>A (p.Ala437Thr)	single nucleotide variant	Inborn genetic diseases [RCV002718825]	Chr17:40863130 [GRCh38] Chr17:39019382 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.617A>G (p.Asn206Ser)	single nucleotide variant	KRT12-related condition [RCV003973552]\|not provided [RCV002938622]	Chr17:40866188 [GRCh38] Chr17:39022440 [GRCh37] Chr17:17q21.2	benign
NM_000223.4(KRT12):c.1016A>T (p.Gln339Leu)	single nucleotide variant	Inborn genetic diseases [RCV002673248]	Chr17:40863564 [GRCh38] Chr17:39019816 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.681C>T (p.Gly227=)	single nucleotide variant	not provided [RCV002605978]	Chr17:40864932 [GRCh38] Chr17:39021184 [GRCh37] Chr17:17q21.2	benign
NM_000223.4(KRT12):c.988G>T (p.Glu330Ter)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV003133959]	Chr17:40863592 [GRCh38] Chr17:39019844 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.916G>A (p.Glu306Lys)	single nucleotide variant	Inborn genetic diseases [RCV003343095]	Chr17:40863756 [GRCh38] Chr17:39020008 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.523G>A (p.Asp175Asn)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV003455898]	Chr17:40866664 [GRCh38] Chr17:39022916 [GRCh37] Chr17:17q21.2	benign
NM_000223.4(KRT12):c.583A>T (p.Ile195Phe)	single nucleotide variant	Inborn genetic diseases [RCV003383576]	Chr17:40866222 [GRCh38] Chr17:39022474 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.1424A>G (p.Gln475Arg)	single nucleotide variant	KRT12-related condition [RCV003919134]\|not provided [RCV003428265]	Chr17:40861722 [GRCh38] Chr17:39017974 [GRCh37] Chr17:17q21.2	likely benign
NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro)	single nucleotide variant	Corneal dystrophy, Meesmann, 1 [RCV003389571]	Chr17:40863258 [GRCh38] Chr17:39019510 [GRCh37] Chr17:17q21.2	likely pathogenic
NM_000223.4(KRT12):c.60G>C (p.Arg20=)	single nucleotide variant	not provided [RCV003419728]	Chr17:40867127 [GRCh38] Chr17:39023379 [GRCh37] Chr17:17q21.2	likely benign
NM_000223.4(KRT12):c.430C>A (p.Arg144=)	single nucleotide variant	not provided [RCV003575370]	Chr17:40866757 [GRCh38] Chr17:39023009 [GRCh37] Chr17:17q21.2	likely benign
NM_000223.4(KRT12):c.417C>T (p.Tyr139=)	single nucleotide variant	not provided [RCV003543863]	Chr17:40866770 [GRCh38] Chr17:39023022 [GRCh37] Chr17:17q21.2	likely benign
NM_000223.4(KRT12):c.1229T>G (p.Val410Gly)	single nucleotide variant	not provided [RCV003548553]	Chr17:40863210 [GRCh38] Chr17:39019462 [GRCh37] Chr17:17q21.2	benign
NM_000223.4(KRT12):c.1456C>G (p.Gln486Glu)	single nucleotide variant	not provided [RCV003736060]	Chr17:40861690 [GRCh38] Chr17:39017942 [GRCh37] Chr17:17q21.2	uncertain significance
NM_000223.4(KRT12):c.1387+8G>C	single nucleotide variant	KRT12-related condition [RCV003967189]	Chr17:40862557 [GRCh38] Chr17:39018809 [GRCh37] Chr17:17q21.2	likely benign
NM_000223.4(KRT12):c.160G>A (p.Gly54Arg)	single nucleotide variant	KRT12-related condition [RCV003958906]	Chr17:40867027 [GRCh38] Chr17:39023279 [GRCh37] Chr17:17q21.2	benign
NM_000223.4(KRT12):c.103G>C (p.Ala35Pro)	single nucleotide variant	Inborn genetic diseases [RCV003362020]	Chr17:40867084 [GRCh38] Chr17:39023336 [GRCh37] Chr17:17q21.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	148
Count of miRNA genes:	132
Interacting mature miRNAs:	143
Transcripts:	ENST00000251643
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

KRT12_2910.2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	39,017,537 - 39,018,102	UniSTS	GRCh37
Build 36	17	36,271,063 - 36,271,628	RGD	NCBI36
Celera	17	35,679,090 - 35,679,655	RGD
HuRef	17	34,811,875 - 34,812,440	UniSTS

RH46938

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	39,017,630 - 39,017,776	UniSTS	GRCh37
Build 36	17	36,271,156 - 36,271,302	RGD	NCBI36
Celera	17	35,679,183 - 35,679,329	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	34,811,968 - 34,812,114	UniSTS
GeneMap99-GB4 RH Map	17	312.06	UniSTS
NCBI RH Map	17	480.7	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

Low

425

117

1156

224

606

Below cutoff

1147

1577

963

243

582

126

2035

952

2102

173

900

963

119

831

1340

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000223	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB007119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC004231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF137286	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CV573989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D78367	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000251643 ⟹ ENSP00000251643

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	40,861,303 - 40,867,223 (-)	Ensembl

RefSeq Acc Id:

ENST00000647902 ⟹ ENSP00000497770

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	40,864,887 - 40,867,200 (-)	Ensembl

RefSeq Acc Id:

ENST00000648126

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	40,863,756 - 40,865,328 (-)	Ensembl

RefSeq Acc Id:

ENST00000648535

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	40,862,630 - 40,863,730 (-)	Ensembl

RefSeq Acc Id:

ENST00000650597

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	40,863,322 - 40,866,524 (-)	Ensembl

RefSeq Acc Id:

NM_000223 ⟹ NP_000214

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	40,861,303 - 40,867,223 (-)	NCBI
GRCh37	17	39,017,430 - 39,023,462 (-)	ENTREZGENE
Build 36	17	36,270,956 - 36,276,988 (-)	NCBI Archive
HuRef	17	34,811,768 - 34,817,815 (-)	ENTREZGENE
CHM1_1	17	39,252,770 - 39,258,802 (-)	NCBI
T2T-CHM13v2.0	17	41,725,618 - 41,731,542 (-)	NCBI

Sequence:

show sequence

CAACTTCCTCTCCAGTTGTGGCCACCTTCCCCAGGCCATGGATCTCTCCAACAACACCATGTCA
CTCTCAGTGCGCACCCCCGGACTGTCCCGGCGGCTCTCCTCGCAGAGTGTGATAGGCAGACCCA
GGGGCATGTCTGCTTCCAGTGTTGGAAGTGGTTATGGGGGAAGTGCCTTTGGCTTTGGAGCCAG
CTGTGGGGGAGGCTTTTCTGCTGCTTCCATGTTTGGTTCTAGTTCCGGCTTTGGGGGTGGCTCC
GGAAGTTCCATGGCAGGAGGACTGGGTGCTGGTTATGGGAGAGCCCTGGGTGGAGGTAGCTTTG
GAGGGCTGGGGATGGGATTTGGGGGCAGCCCAGGAGGTGGCTCTCTAGGTATTCTCTCGGGCAA
TGATGGAGGCCTTCTTTCTGGATCAGAAAAAGAAACTATGCAAAATCTTAATGATAGATTAGCT
TCCTACCTGGATAAGGTGCGAGCTCTAGAAGAGGCTAATACTGAGCTAGAAAATAAAATTCGAG
AATGGTATGAAACACGAGGAACTGGGACTGCAGATGCTTCACAGAGCGATTACAGCAAATATTA
TCCACTGATTGAAGACCTCAGGAATAAGATCATTTCAGCCAGCATTGGAAATGCCCAGCTCCTC
TTGCAGATTGACAATGCGAGACTAGCTGCTGAGGACTTCAGGATGAAGTATGAGAATGAACTGG
CCCTGCGCCAGGGCGTAGAGGCCGACATCAATGGCCTGCGCCGGGTGCTGGACGAGCTGACCCT
GACCAGGACCGACCTGGAGATGCAGATCGAGAGCCTGAACGAGGAGCTGGCCTACATGAAGAAG
AACCACGAGGATGAGCTCCAAAGCTTCCGGGTGGGCGGCCCAGGCGAGGTCAGCGTAGAAATGG
ACGCTGCCCCCGGAGTGGACCTCACCAGGCTCCTCAATGATATGCGGGCGCAGTATGAAACCAT
CGCTGAGCAGAATCGGAAGGACGCTGAAGCCTGGTTCATTGAAAAGAGCGGGGAGCTCCGTAAG
GAGATTAGCACCAACACCGAGCAGCTTCAGTCCAGCAAGAGCGAGGTCACCGACCTGCGTCGCG
CCTTTCAGAACCTGGAGATCGAGCTACAGTCCCAGCTCGCCATGAAGAAATCCCTGGAGGACTC
CTTGGCCGAAGCCGAGGGCGATTACTGCGCGCAGCTGTCCCAGGTGCAGCAGCTCATCAGCAAC
CTGGAGGCACAGCTGCTCCAGGTGCGCGCGGACGCAGAGCGCCAGAACGTGGACCACCAGCGGC
TGCTGAATGTCAAGGCCCGCCTGGAGCTGGAGATTGAGACCTACCGCCGCCTGCTGGACGGGGA
GGCCCAAGGTGATGGTTTGGAGGAAAGTTTATTTGTGACAGACTCCAAATCACAAGCACAGTCA
ACTGATTCCTCTAAAGACCCAACCAAAACCCGAAAAATCAAGACAGTTGTGCAGGAGATGGTGA
ATGGTGAGGTGGTCTCATCTCAAGTTCAGGAAATTGAAGAACTAATGTAAAATTTCACAAGATC
TGCCCCATGATTGGTTCCTTAGGAACAAGAAATTTACAAGTAGAAATTATTCCTTTCAGAGTAA
CATGCTGTATTACTTCAATCCCTATTTTTGTCTGTTCCATTTTCTTTGGATTCCCTATTCACAT
TGAATCCTTTTTGCCCTTCTGAAACAATATTCAGTCACAAGTCATTTTGGTCATGTTGGTCTTT
GTAACAAATCAAAATTACCTTATATCCTTCTGGACCTGGAGTAGTCTTTTAACGAACTTTCTTC
TGGTAACCCGGAATATTTTTTAATCATAGAGCTTTAATCAAGTAGTATTGTTTTAATAGAGTTA
ATTGTAATAAAAGATGAATGGTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_000214	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF61432	(Get FASTA)	NCBI Sequence Viewer
	BAA11376	(Get FASTA)	NCBI Sequence Viewer
	BAA25063	(Get FASTA)	NCBI Sequence Viewer
	BAG36487	(Get FASTA)	NCBI Sequence Viewer
	EAW60685	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000251643
	ENSP00000251643.4
	ENSP00000459559.2
	ENSP00000497770.1
GenBank Protein	Q99456	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_000214 ⟸ NM_000223

- UniProtKB:

B2R9E0 (UniProtKB/Swiss-Prot), Q99456 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGSAFGFGASCGGGFSAASMFG
SSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMGFGGSPGGGSLGILSGNDGGLLSGSEKET
MQNLNDRLASYLDKVRALEEANTELENKIREWYETRGTGTADASQSDYSKYYPLIEDLRNKIIS
ASIGNAQLLLQIDNARLAAEDFRMKYENELALRQGVEADINGLRRVLDELTLTRTDLEMQIESL
NEELAYMKKNHEDELQSFRVGGPGEVSVEMDAAPGVDLTRLLNDMRAQYETIAEQNRKDAEAWF
IEKSGELRKEISTNTEQLQSSKSEVTDLRRAFQNLEIELQSQLAMKKSLEDSLAEAEGDYCAQL
SQVQQLISNLEAQLLQVRADAERQNVDHQRLLNVKARLELEIETYRRLLDGEAQGDGLEESLFV
TDSKSQAQSTDSSKDPTKTRKIKTVVQEMVNGEVVSSQVQEIEELM

hide sequence

RefSeq Acc Id:

ENSP00000251643 ⟸ ENST00000251643

RefSeq Acc Id:

ENSP00000497770 ⟸ ENST00000647902

Protein Domains

IF rod

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q99456-F1-model_v2	AlphaFold	Q99456	1-494	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:6414	AgrOrtholog
COSMIC	KRT12	COSMIC
Ensembl Genes	ENSG00000187242	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000263243	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000251643	ENTREZGENE
	ENST00000251643.5	UniProtKB/Swiss-Prot
	ENST00000572470.2	UniProtKB/Swiss-Prot
	ENST00000647902.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.5.170	UniProtKB/Swiss-Prot
	Single helix bin	UniProtKB/Swiss-Prot
	Vasodilator-stimulated phosphoprotein	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000187242	GTEx
	ENSG00000263243	GTEx
HGNC ID	HGNC:6414	ENTREZGENE
Human Proteome Map	KRT12	Human Proteome Map
InterPro	IF_conserved	UniProtKB/Swiss-Prot
	IF_rod_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Keratin_I	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:3859	UniProtKB/Swiss-Prot
NCBI Gene	3859	ENTREZGENE
OMIM	601687	OMIM
PANTHER	KERATIN, TYPE I CYTOSKELETAL 12	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR23239	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Filament	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA30201	PharmGKB
PRINTS	TYPE1KERATIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	IF_ROD_1	UniProtKB/Swiss-Prot
	IF_ROD_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	Filament	UniProtKB/Swiss-Prot
Superfamily-SCOP	Intermediate filament protein, coiled coil region	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A3B3ITG2_HUMAN	UniProtKB/TrEMBL
	B2R9E0	ENTREZGENE
	K1C12_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B2R9E0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-14	KRT12	keratin 12	KRT12	keratin 12, type I	Symbol and/or name change	5135510	APPROVED
2015-01-27	KRT12	keratin 12, type I	KRT12	keratin 12	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

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Imported Human Phenotype Annotations - HPO