PRPH (peripherin) - Rat Genome Database

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Gene: PRPH (peripherin) Homo sapiens
Analyze
Symbol: PRPH
Name: peripherin
RGD ID: 733911
HGNC Page HGNC:9461
Description: Predicted to enable structural molecule activity. Predicted to act upstream of or within intermediate filament cytoskeleton organization. Located in extracellular exosome and membrane. Implicated in amyotrophic lateral sclerosis type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: NEF4; neurofilament 4 (57kD); peripherin 1; PRPH1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: PRPH (Gene ID: 5630) and PRPH2 (Gene ID: 5961) share the PRPH symbol/alias in common. PRPH is sometimes used as an alternative name for peripherin 2 (PRPH2), which can be confused with the official symbol for peripherin (PRPH). [05 Jul 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381249,295,147 - 49,298,686 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1249,295,147 - 49,298,686 (+)EnsemblGRCh38hg38GRCh38
GRCh371249,688,930 - 49,692,469 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,975,176 - 47,978,748 (+)NCBINCBI36Build 36hg18NCBI36
Build 341247,975,250 - 47,978,732NCBI
Celera1248,481,731 - 48,485,303 (+)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,719,777 - 46,723,549 (+)NCBIHuRef
CHM1_11249,654,607 - 49,658,179 (+)NCBICHM1_1
T2T-CHM13v2.01249,257,338 - 49,260,877 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
alachlor  (ISO)
all-trans-retinoic acid  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
cannabidiol  (EXP)
carbonyl sulfide  (ISO)
carmustine  (ISO)
chlordecone  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (EXP)
doxorubicin  (ISO)
epoxiconazole  (ISO)
flavonoids  (ISO)
glyphosate  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
iron dichloride  (EXP)
ivermectin  (EXP)
mercury dichloride  (ISO)
methotrexate  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
propanal  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
thapsigargin  (EXP,ISO)
tioguanine  (ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality on pulmonary function testing  (IAGP)
Adult onset  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Anxiety  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Cachexia  (IAGP)
Cognitive impairment  (IAGP)
Degeneration of anterior horn cells  (IAGP)
Degeneration of the lateral corticospinal tracts  (IAGP)
Depression  (IAGP)
Distal amyotrophy  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Dyspnea  (IAGP)
Emotional lability  (IAGP)
Fasciculations  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Fatigue  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frontotemporal dementia  (IAGP)
Generalized muscle weakness  (IAGP)
Hoffmann sign  (IAGP)
Hyperreflexia  (IAGP)
Jaw hyperreflexia  (IAGP)
Language impairment  (IAGP)
Laryngospasm  (IAGP)
Lower limb muscle weakness  (IAGP)
Motor neuron atrophy  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Neurodegeneration  (IAGP)
Orthopnea  (IAGP)
Pain  (IAGP)
Paralysis  (IAGP)
Progressive distal muscular atrophy  (IAGP)
Pseudobulbar paralysis  (IAGP)
Respiratory failure  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep abnormality  (IAGP)
Sleep apnea  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Steppage gait  (IAGP)
Tongue atrophy  (IAGP)
Tongue fasciculations  (IAGP)
Upper limb muscle weakness  (IAGP)
Weight loss  (IAGP)
Xerostomia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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:1378416   PMID:1986862   PMID:7622044   PMID:7806235   PMID:7976309   PMID:8381395   PMID:9085149   PMID:9414188   PMID:9453548   PMID:10728817   PMID:11835375   PMID:12223549  
PMID:12358815   PMID:12403814   PMID:12477932   PMID:14675609   PMID:14702039   PMID:15322088   PMID:15489334   PMID:16189514   PMID:16787413   PMID:17569669   PMID:18287500   PMID:18408015  
PMID:18528283   PMID:18709437   PMID:19156129   PMID:19946888   PMID:20301623   PMID:20363051   PMID:20533992   PMID:21088854   PMID:21145461   PMID:21241994   PMID:21654808   PMID:21743467  
PMID:21873635   PMID:21900206   PMID:22360420   PMID:22939629   PMID:23179371   PMID:23533145   PMID:23718855   PMID:25720964   PMID:26460568   PMID:26469323   PMID:27185639   PMID:27565346  
PMID:28225217   PMID:28302793   PMID:28514442   PMID:28533407   PMID:29128334   PMID:29196434   PMID:29845934   PMID:30822235   PMID:30940648   PMID:30992453   PMID:31501420   PMID:31586073  
PMID:32296183   PMID:32814053   PMID:33567341   PMID:33961781   PMID:34079125   PMID:34728620   PMID:35013218   PMID:35063084   PMID:35575683   PMID:36217029   PMID:36634849   PMID:37071682  
PMID:38697112   PMID:39358380  


Genomics

Comparative Map Data
PRPH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381249,295,147 - 49,298,686 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1249,295,147 - 49,298,686 (+)EnsemblGRCh38hg38GRCh38
GRCh371249,688,930 - 49,692,469 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,975,176 - 47,978,748 (+)NCBINCBI36Build 36hg18NCBI36
Build 341247,975,250 - 47,978,732NCBI
Celera1248,481,731 - 48,485,303 (+)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,719,777 - 46,723,549 (+)NCBIHuRef
CHM1_11249,654,607 - 49,658,179 (+)NCBICHM1_1
T2T-CHM13v2.01249,257,338 - 49,260,877 (+)NCBIT2T-CHM13v2.0
Prph
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391598,951,452 - 98,956,858 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1598,953,055 - 98,956,859 (+)EnsemblGRCm39 Ensembl
GRCm381599,053,579 - 99,058,978 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1599,055,174 - 99,058,978 (+)EnsemblGRCm38mm10GRCm38
MGSCv371598,885,605 - 98,889,409 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361598,883,241 - 98,886,704 (+)NCBIMGSCv36mm8
Celera15101,208,902 - 101,212,694 (+)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1555.72NCBI
Prph
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87132,096,888 - 132,101,070 (+)NCBIGRCr8
mRatBN7.27130,218,149 - 130,222,136 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7130,218,357 - 130,222,136 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7132,028,577 - 132,032,350 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07134,254,151 - 134,257,924 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07134,166,656 - 134,170,429 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07140,742,406 - 140,746,197 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7140,742,418 - 140,746,197 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X115,247,151 - 115,251,138 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47137,836,152 - 137,839,931 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17137,912,601 - 137,916,363 (+)NCBI
Celera7126,703,099 - 126,706,878 (+)NCBICelera
Cytogenetic Map7q36NCBI
Prph
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555008,107,847 - 8,117,290 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555008,106,371 - 8,117,221 (+)NCBIChiLan1.0ChiLan1.0
PRPH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21044,885,322 - 44,894,946 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11244,882,083 - 44,888,844 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01239,451,832 - 39,456,800 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11240,337,626 - 40,342,611 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1240,337,626 - 40,342,611 (-)Ensemblpanpan1.1panPan2
PRPH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1275,314,815 - 5,320,270 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl275,314,807 - 5,320,089 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2740,928,170 - 40,941,768 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0275,366,381 - 5,380,010 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl275,366,389 - 5,371,465 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1275,331,470 - 5,344,950 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0275,320,895 - 5,334,284 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02741,321,186 - 41,334,583 (+)NCBIUU_Cfam_GSD_1.0
Prph
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494566,113,872 - 66,118,583 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365127,047,253 - 7,051,007 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365127,046,275 - 7,050,958 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRPH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl515,285,294 - 15,288,798 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1515,283,399 - 15,288,800 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2516,146,476 - 16,176,379 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRPH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11145,520,506 - 45,525,548 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1145,522,059 - 45,525,212 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037200,604,408 - 200,624,925 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prph
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248162,873,690 - 2,877,238 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248162,873,689 - 2,877,335 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRPH
69 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
PRPH, 1-BP DEL, 228C deletion Amyotrophic lateral sclerosis, susceptibility to [RCV000014705] Chr12:12q12-q13 risk factor
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) single nucleotide variant Amyotrophic lateral sclerosis, susceptibility to [RCV000014706]|PRPH-related disorder [RCV003964802]|not provided [RCV000057167]|not specified [RCV000523206] Chr12:49295621 [GRCh38]
Chr12:49689404 [GRCh37]
Chr12:12q13.12
risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006262.4(PRPH):c.*82C>A single nucleotide variant not provided [RCV000057153] Chr12:49298435 [GRCh38]
Chr12:49692218 [GRCh37]
Chr12:12q13.12
not provided
NM_006262.4(PRPH):c.-23G>C single nucleotide variant not provided [RCV000057154] Chr12:49295178 [GRCh38]
Chr12:49688961 [GRCh37]
Chr12:12q13.12
not provided
NM_006262.4(PRPH):c.-24G>C single nucleotide variant not provided [RCV000057155] Chr12:49295177 [GRCh38]
Chr12:49688960 [GRCh37]
Chr12:12q13.12
benign|not provided
NM_006262.4(PRPH):c.1083C>G (p.Leu361=) single nucleotide variant PRPH-related disorder [RCV003974943]|not provided [RCV000057156] Chr12:49297443 [GRCh38]
Chr12:49691226 [GRCh37]
Chr12:12q13.12
benign|likely benign|not provided
NM_006262.4(PRPH):c.1107A>G (p.Lys369=) single nucleotide variant not provided [RCV000057157]|not specified [RCV001579593] Chr12:49297467 [GRCh38]
Chr12:49691250 [GRCh37]
Chr12:12q13.12
benign|not provided
NM_006262.4(PRPH):c.1108G>A (p.Glu370Lys) single nucleotide variant not provided [RCV000057158] Chr12:49297468 [GRCh38]
Chr12:49691251 [GRCh37]
Chr12:12q13.12
not provided
NM_006262.4(PRPH):c.1217+27C>A single nucleotide variant not provided [RCV000057159] Chr12:49297604 [GRCh38]
Chr12:49691387 [GRCh37]
Chr12:12q13.12
likely benign|not provided
NM_006262.4(PRPH):c.1217+34G>A single nucleotide variant not provided [RCV000057160] Chr12:49297611 [GRCh38]
Chr12:49691394 [GRCh37]
Chr12:12q13.12
not provided
NM_006262.4(PRPH):c.1217+43C>A single nucleotide variant not provided [RCV000057161] Chr12:49297620 [GRCh38]
Chr12:49691403 [GRCh37]
Chr12:12q13.12
benign|not provided
NM_006262.4(PRPH):c.1267+58T>C single nucleotide variant not provided [RCV000057162] Chr12:49297784 [GRCh38]
Chr12:49691567 [GRCh37]
Chr12:12q13.12
benign|not provided
NM_006262.4(PRPH):c.1348-36dup duplication not provided [RCV000057163] Chr12:49298250..49298251 [GRCh38]
Chr12:49692033..49692034 [GRCh37]
Chr12:12q13.12
not provided
NM_006262.4(PRPH):c.229del (p.Arg77fs) deletion Amyotrophic lateral sclerosis, susceptibility to [RCV002295280]|not provided [RCV000057164] Chr12:49295429 [GRCh38]
Chr12:49689212 [GRCh37]
Chr12:12q13.12
risk factor|not provided
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV002496748]|not provided [RCV000057165]|not specified [RCV001727557] Chr12:49295226 [GRCh38]
Chr12:49689009 [GRCh37]
Chr12:12q13.12
benign|not provided
NM_006262.4(PRPH):c.398G>C (p.Arg133Pro) single nucleotide variant not provided [RCV000057166] Chr12:49295598 [GRCh38]
Chr12:49689381 [GRCh37]
Chr12:12q13.12
not provided
NM_006262.4(PRPH):c.545+69G>C single nucleotide variant not provided [RCV000057168] Chr12:49295814 [GRCh38]
Chr12:49689597 [GRCh37]
Chr12:12q13.12
benign|not provided
NM_006262.4(PRPH):c.547T>C (p.Leu183=) single nucleotide variant not provided [RCV000057169] Chr12:49296179 [GRCh38]
Chr12:49689962 [GRCh37]
Chr12:12q13.12
not provided
NM_006262.4(PRPH):c.606+52T>G single nucleotide variant not provided [RCV000057170] Chr12:49296290 [GRCh38]
Chr12:49690073 [GRCh37]
Chr12:12q13.12
not provided
NM_006262.4(PRPH):c.607-77A>C single nucleotide variant not provided [RCV000057171] Chr12:49296355 [GRCh38]
Chr12:49690138 [GRCh37]
Chr12:12q13.12
not provided
NM_006262.4(PRPH):c.63C>T (p.Phe21=) single nucleotide variant PRPH-related disorder [RCV003964911]|not provided [RCV000057172] Chr12:49295263 [GRCh38]
Chr12:49689046 [GRCh37]
Chr12:12q13.12
benign|likely benign|not provided
NM_006262.4(PRPH):c.702+27T>C single nucleotide variant not provided [RCV000057173] Chr12:49296554 [GRCh38]
Chr12:49690337 [GRCh37]
Chr12:12q13.12
benign|not provided
NM_006262.4(PRPH):c.703-13C>T single nucleotide variant not provided [RCV000057174] Chr12:49296876 [GRCh38]
Chr12:49690659 [GRCh37]
Chr12:12q13.12
not provided
NM_006262.4(PRPH):c.829G>A (p.Ala277Thr) single nucleotide variant PRPH-related disorder [RCV003974944]|not provided [RCV000057175] Chr12:49297015 [GRCh38]
Chr12:49690798 [GRCh37]
Chr12:12q13.12
benign|likely benign|not provided
NM_006262.4(PRPH):c.870+12G>A single nucleotide variant not provided [RCV000057176] Chr12:49297068 [GRCh38]
Chr12:49690851 [GRCh37]
Chr12:12q13.12
not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12
pathogenic
NM_006262.4(PRPH):c.996+1G>A single nucleotide variant PRPH-related disorder [RCV003932785]|not provided [RCV000488011] Chr12:49297274 [GRCh38]
Chr12:49297274..49297275 [GRCh38]
Chr12:49691057 [GRCh37]
Chr12:49691057..49691058 [GRCh37]
Chr12:12q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12q13.12(chr12:49667030-49692424)x1 copy number loss See cases [RCV000446499] Chr12:49667030..49692424 [GRCh37]
Chr12:12q13.12
uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_006262.4(PRPH):c.104C>G (p.Ser35Trp) single nucleotide variant Inborn genetic diseases [RCV003260134] Chr12:49295304 [GRCh38]
Chr12:49689087 [GRCh37]
Chr12:12q13.12
uncertain significance
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q13.12(chr12:49667921-49716782)x3 copy number gain not provided [RCV000750396] Chr12:49667921..49716782 [GRCh37]
Chr12:12q13.12
benign
GRCh37/hg19 12q13.12(chr12:49676010-49690337)x3 copy number gain not provided [RCV000750397] Chr12:49676010..49690337 [GRCh37]
Chr12:12q13.12
benign
NC_000012.12:g.49295097C>G single nucleotide variant not provided [RCV001611271] Chr12:49295097 [GRCh38]
Chr12:49688880 [GRCh37]
Chr12:12q13.12
benign
NM_006262.4(PRPH):c.1303C>T (p.Arg435Trp) single nucleotide variant not provided [RCV001691375] Chr12:49297993 [GRCh38]
Chr12:49691776 [GRCh37]
Chr12:12q13.12
benign
NM_006262.4(PRPH):c.190C>T (p.Arg64Ter) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095524] Chr12:49295390 [GRCh38]
Chr12:49689173 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.703-163T>C single nucleotide variant not provided [RCV001610211] Chr12:49296726 [GRCh38]
Chr12:49690509 [GRCh37]
Chr12:12q13.12
benign
NM_006262.4(PRPH):c.1104A>G (p.Leu368=) single nucleotide variant not provided [RCV000909479] Chr12:49297464 [GRCh38]
Chr12:49691247 [GRCh37]
Chr12:12q13.12
likely benign
NM_006262.4(PRPH):c.352C>A (p.Leu118Met) single nucleotide variant not provided [RCV000913079] Chr12:49295552 [GRCh38]
Chr12:49689335 [GRCh37]
Chr12:12q13.12
benign
NM_006262.4(PRPH):c.69A>G (p.Pro23=) single nucleotide variant not provided [RCV000912575] Chr12:49295269 [GRCh38]
Chr12:49689052 [GRCh37]
Chr12:12q13.12
likely benign
NM_006262.4(PRPH):c.1268-34T>C single nucleotide variant not provided [RCV001719342] Chr12:49297924 [GRCh38]
Chr12:49691707 [GRCh37]
Chr12:12q13.12
benign
GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3 copy number gain not provided [RCV001259140] Chr12:49024019..50299974 [GRCh37]
Chr12:12q13.11-13.12
uncertain significance
GRCh37/hg19 12q13.12(chr12:49584942-49910016)x3 copy number gain not provided [RCV001259142] Chr12:49584942..49910016 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.860A>G (p.Tyr287Cys) single nucleotide variant Inborn genetic diseases [RCV004034474]|not provided [RCV001356929] Chr12:49297046 [GRCh38]
Chr12:49690829 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.560C>T (p.Thr187Met) single nucleotide variant Inborn genetic diseases [RCV002557552]|not provided [RCV001455115] Chr12:49296192 [GRCh38]
Chr12:49689975 [GRCh37]
Chr12:12q13.12
likely benign|uncertain significance
NM_006262.4(PRPH):c.1376G>A (p.Arg459His) single nucleotide variant not provided [RCV001773909] Chr12:49298316 [GRCh38]
Chr12:49692099 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.248C>T (p.Ala83Val) single nucleotide variant not provided [RCV001765815] Chr12:49295448 [GRCh38]
Chr12:49689231 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.607-1G>A single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV001808230] Chr12:49296431 [GRCh38]
Chr12:49690214 [GRCh37]
Chr12:12q13.12
likely pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12
pathogenic
NM_006262.4(PRPH):c.1235A>C (p.His412Pro) single nucleotide variant Amyotrophic lateral sclerosis type 10 [RCV002463847] Chr12:49297694 [GRCh38]
Chr12:49691477 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.1009C>T (p.Leu337Phe) single nucleotide variant Inborn genetic diseases [RCV002733369] Chr12:49297369 [GRCh38]
Chr12:49691152 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.1190G>T (p.Arg397Leu) single nucleotide variant Inborn genetic diseases [RCV002687249] Chr12:49297550 [GRCh38]
Chr12:49691333 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.16T>C (p.Ser6Pro) single nucleotide variant Inborn genetic diseases [RCV002870474] Chr12:49295216 [GRCh38]
Chr12:49688999 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.466G>C (p.Glu156Gln) single nucleotide variant Inborn genetic diseases [RCV002983891] Chr12:49295666 [GRCh38]
Chr12:49689449 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.546G>C (p.Arg182Ser) single nucleotide variant Inborn genetic diseases [RCV002763061] Chr12:49296178 [GRCh38]
Chr12:49689961 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.17C>T (p.Ser6Leu) single nucleotide variant Inborn genetic diseases [RCV002765347] Chr12:49295217 [GRCh38]
Chr12:49689000 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.667G>A (p.Asp223Asn) single nucleotide variant Inborn genetic diseases [RCV002709197] Chr12:49296492 [GRCh38]
Chr12:49690275 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.697G>A (p.Glu233Lys) single nucleotide variant Inborn genetic diseases [RCV002960727]|not provided [RCV004765726] Chr12:49296522 [GRCh38]
Chr12:49690305 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.644A>G (p.Glu215Gly) single nucleotide variant Inborn genetic diseases [RCV002920905] Chr12:49296469 [GRCh38]
Chr12:49690252 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.799G>A (p.Asp267Asn) single nucleotide variant Inborn genetic diseases [RCV002897845] Chr12:49296985 [GRCh38]
Chr12:49690768 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.1079G>T (p.Arg360Leu) single nucleotide variant Inborn genetic diseases [RCV002747558] Chr12:49297439 [GRCh38]
Chr12:49691222 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.256C>T (p.Leu86Phe) single nucleotide variant not provided [RCV003159528] Chr12:49295456 [GRCh38]
Chr12:49689239 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.314del (p.Asn105fs) deletion not provided [RCV003225579] Chr12:49295513 [GRCh38]
Chr12:49689296 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.724A>G (p.Ser242Gly) single nucleotide variant Inborn genetic diseases [RCV003213593] Chr12:49296910 [GRCh38]
Chr12:49690693 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.326C>T (p.Ala109Val) single nucleotide variant Inborn genetic diseases [RCV003185450] Chr12:49295526 [GRCh38]
Chr12:49689309 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.1064A>C (p.Gln355Pro) single nucleotide variant Inborn genetic diseases [RCV003204619] Chr12:49297424 [GRCh38]
Chr12:49691207 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.931G>C (p.Glu311Gln) single nucleotide variant not provided [RCV003332704] Chr12:49297208 [GRCh38]
Chr12:49690991 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.499G>A (p.Val167Met) single nucleotide variant Inborn genetic diseases [RCV003371711] Chr12:49295699 [GRCh38]
Chr12:49689482 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.416G>A (p.Arg139His) single nucleotide variant Inborn genetic diseases [RCV003369525] Chr12:49295616 [GRCh38]
Chr12:49689399 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.146C>T (p.Ala49Val) single nucleotide variant Inborn genetic diseases [RCV003375757] Chr12:49295346 [GRCh38]
Chr12:49689129 [GRCh37]
Chr12:12q13.12
uncertain significance
NC_000012.11:g.(?_49688929)_(49691510_49691740)dup duplication not specified [RCV003404820] Chr12:49688929..49691510 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.807C>T (p.Arg269=) single nucleotide variant not provided [RCV003391800] Chr12:49296993 [GRCh38]
Chr12:49690776 [GRCh37]
Chr12:12q13.12
likely benign
NM_006262.4(PRPH):c.192AGCGGG[3] (p.Ala69_Leu70insGlyAla) microsatellite not provided [RCV003488309] Chr12:49295390..49295391 [GRCh38]
Chr12:49689173..49689174 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.917G>T (p.Arg306Leu) single nucleotide variant Inborn genetic diseases [RCV004507580] Chr12:49297194 [GRCh38]
Chr12:49690977 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.653T>C (p.Ile218Thr) single nucleotide variant Inborn genetic diseases [RCV004507579] Chr12:49296478 [GRCh38]
Chr12:49690261 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.632G>T (p.Arg211Leu) single nucleotide variant Inborn genetic diseases [RCV004507578] Chr12:49296457 [GRCh38]
Chr12:49690240 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.578C>A (p.Ala193Glu) single nucleotide variant Inborn genetic diseases [RCV004507577] Chr12:49296210 [GRCh38]
Chr12:49689993 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.487G>C (p.Asp163His) single nucleotide variant Inborn genetic diseases [RCV004507575] Chr12:49295687 [GRCh38]
Chr12:49689470 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.457C>G (p.Arg153Gly) single nucleotide variant Inborn genetic diseases [RCV004507574] Chr12:49295657 [GRCh38]
Chr12:49689440 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.395C>T (p.Ala132Val) single nucleotide variant Inborn genetic diseases [RCV004507573] Chr12:49295595 [GRCh38]
Chr12:49689378 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.383A>T (p.Glu128Val) single nucleotide variant Inborn genetic diseases [RCV004507572] Chr12:49295583 [GRCh38]
Chr12:49689366 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.919C>T (p.Gln307Ter) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV004547323] Chr12:49297196 [GRCh38]
Chr12:49690979 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006262.4(PRPH):c.394G>A (p.Ala132Thr) single nucleotide variant Inborn genetic diseases [RCV004648868] Chr12:49295594 [GRCh38]
Chr12:49689377 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.5G>C (p.Ser2Thr) single nucleotide variant Inborn genetic diseases [RCV004648869] Chr12:49295205 [GRCh38]
Chr12:49688988 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006262.4(PRPH):c.1087G>A (p.Glu363Lys) single nucleotide variant Inborn genetic diseases [RCV004648870] Chr12:49297447 [GRCh38]
Chr12:49691230 [GRCh37]
Chr12:12q13.12
uncertain significance
NC_000012.11:g.(?_49688929)_(49691361_49691459)dup duplication not specified [RCV004587962] Chr12:49688929..49691361 [GRCh37]
Chr12:12q13.12
benign
NM_006262.4(PRPH):c.364A>G (p.Asn122Asp) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV004795851] Chr12:49295564 [GRCh38]
Chr12:49689347 [GRCh37]
Chr12:12q13.12
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1626
Count of miRNA genes:742
Interacting mature miRNAs:880
Transcripts:ENST00000257860, ENST00000451891, ENST00000530631, ENST00000532332, ENST00000533401, ENST00000537252, ENST00000551194
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597508137GWAS1604211_Hnerve conduction amplitude QTL GWAS1604211 (human)1e-11nerve conduction amplitude124929727449297275Human

Markers in Region
STS-L14565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,692,130 - 49,692,331UniSTSGRCh37
Build 361247,978,397 - 47,978,598RGDNCBI36
Celera1248,484,952 - 48,485,153RGD
Cytogenetic Map12q12-q13UniSTS
HuRef1246,723,198 - 46,723,399UniSTS
GeneMap99-GB4 RH Map12217.82UniSTS
GDB:384860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,691,791 - 49,692,010UniSTSGRCh37
Build 361247,978,058 - 47,978,277RGDNCBI36
Celera1248,484,613 - 48,484,832RGD
Cytogenetic Map12q12-q13UniSTS
HuRef1246,722,859 - 46,723,078UniSTS
PRPH_2980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,691,998 - 49,692,618UniSTSGRCh37
Build 361247,978,265 - 47,978,885RGDNCBI36
Celera1248,484,820 - 48,485,440RGD
HuRef1246,723,066 - 46,723,686UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2378 2735 2208 4820 1521 2098 4 444 1055 286 2205 6015 5513 42 3657 766 1702 1544 169

Sequence


Ensembl Acc Id: ENST00000257860   ⟹   ENSP00000257860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,295,147 - 49,298,686 (+)Ensembl
Ensembl Acc Id: ENST00000451891   ⟹   ENSP00000408897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,295,362 - 49,297,238 (+)Ensembl
Ensembl Acc Id: ENST00000530631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,297,121 - 49,298,648 (+)Ensembl
Ensembl Acc Id: ENST00000532332   ⟹   ENSP00000437182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,297,002 - 49,298,592 (+)Ensembl
Ensembl Acc Id: ENST00000533401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,295,751 - 49,297,424 (+)Ensembl
Ensembl Acc Id: ENST00000537252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,295,766 - 49,296,890 (+)Ensembl
Ensembl Acc Id: ENST00000551194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,293,252 - 49,293,997 (+)Ensembl
RefSeq Acc Id: NM_006262   ⟹   NP_006253
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,295,147 - 49,298,686 (+)NCBI
GRCh371249,688,796 - 49,692,481 (+)NCBI
Build 361247,975,176 - 47,978,748 (+)NCBI Archive
HuRef1246,719,777 - 46,723,549 (+)ENTREZGENE
CHM1_11249,654,607 - 49,658,179 (+)NCBI
T2T-CHM13v2.01249,257,338 - 49,260,877 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006253   ⟸   NM_006262
- UniProtKB: Q8N577 (UniProtKB/Swiss-Prot),   P41219 (UniProtKB/Swiss-Prot),   B3KWQ6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000408897   ⟸   ENST00000451891
Ensembl Acc Id: ENSP00000257860   ⟸   ENST00000257860
Ensembl Acc Id: ENSP00000437182   ⟸   ENST00000532332
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P41219-F1-model_v2 AlphaFold P41219 1-470 view protein structure

Promoters
RGD ID:6790388
Promoter ID:HG_KWN:15553
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000257860
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,974,971 - 47,975,471 (+)MPROMDB
RGD ID:7223821
Promoter ID:EPDNEW_H17656
Type:initiation region
Name:PRPH_2
Description:peripherin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17657  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,292,930 - 49,292,990EPDNEW
RGD ID:7223823
Promoter ID:EPDNEW_H17657
Type:multiple initiation site
Name:PRPH_1
Description:peripherin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17656  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,295,147 - 49,295,207EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9461 AgrOrtholog
COSMIC PRPH COSMIC
Ensembl Genes ENSG00000135406 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000257860 ENTREZGENE
  ENST00000257860.9 UniProtKB/Swiss-Prot
  ENST00000451891.4 UniProtKB/TrEMBL
  ENST00000532332.2 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135406 GTEx
HGNC ID HGNC:9461 ENTREZGENE
Human Proteome Map PRPH Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intermed_filament_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intermediate_filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5630 ENTREZGENE
OMIM 170710 OMIM
PANTHER GLIAL FIBRILLARY ACIDIC PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45652:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filament_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33816 PharmGKB
PRINTS TYPE1KERATIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KWQ6 ENTREZGENE, UniProtKB/TrEMBL
  F8W835_HUMAN UniProtKB/TrEMBL
  H7C5W5_HUMAN UniProtKB/TrEMBL
  P41219 ENTREZGENE, UniProtKB/Swiss-Prot
  Q8N577 ENTREZGENE
UniProt Secondary Q8N577 UniProtKB/Swiss-Prot