KLHL38 (kelch like family member 38) - Rat Genome Database

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Gene: KLHL38 (kelch like family member 38) Homo sapiens
Analyze
Symbol: KLHL38
Name: kelch like family member 38
RGD ID: 2300033
HGNC Page HGNC
Description: ASSOCIATED WITH trichorhinophalangeal syndrome type I; INTERACTS WITH benzo[a]pyrene; doxorubicin; valproic acid
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C8ORFK36; kelch-like 38; kelch-like family member 38; kelch-like protein 38
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,645,527 - 123,652,950 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8123,644,442 - 123,653,801 (-)EnsemblGRCh38hg38GRCh38
GRCh388123,644,442 - 123,653,801 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,656,682 - 124,666,041 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,727,096 - 124,734,371 (-)NCBINCBI36hg18NCBI36
Celera8120,845,677 - 120,852,952 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,983,305 - 119,990,580 (-)NCBIHuRef
CHM1_18124,698,106 - 124,705,381 (-)NCBICHM1_1
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
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:20379614   PMID:21873635   PMID:22939624   PMID:23676014   PMID:25036637   PMID:25055868   PMID:25416956   PMID:30639242   PMID:32296183  


Genomics

Comparative Map Data
KLHL38
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,645,527 - 123,652,950 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8123,644,442 - 123,653,801 (-)EnsemblGRCh38hg38GRCh38
GRCh388123,644,442 - 123,653,801 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,656,682 - 124,666,041 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,727,096 - 124,734,371 (-)NCBINCBI36hg18NCBI36
Celera8120,845,677 - 120,852,952 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,983,305 - 119,990,580 (-)NCBIHuRef
CHM1_18124,698,106 - 124,705,381 (-)NCBICHM1_1
Klhl38
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391558,176,076 - 58,187,623 (-)NCBIGRCm39mm39
GRCm39 Ensembl1558,177,969 - 58,187,565 (-)Ensembl
GRCm381558,314,573 - 58,324,169 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,314,573 - 58,324,169 (-)EnsemblGRCm38mm10GRCm38
MGSCv371558,146,128 - 58,155,724 (-)NCBIGRCm37mm9NCBIm37
MGSCv361558,144,656 - 58,154,252 (-)NCBImm8
Celera1559,834,541 - 59,844,312 (-)NCBICelera
Cytogenetic Map15D1NCBI
Klhl38
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2789,854,015 - 89,864,352 (-)NCBI
Rnor_6.0 Ensembl798,186,764 - 98,197,114 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0798,187,954 - 98,197,163 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0798,791,425 - 98,800,635 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4795,042,270 - 95,051,399 (-)NCBIRGSC3.4rn4RGSC3.4
Celera786,626,216 - 86,635,343 (-)NCBICelera
Cytogenetic Map7q33NCBI
Klhl38
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555402,443,230 - 2,452,037 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555402,443,230 - 2,452,037 (-)NCBIChiLan1.0ChiLan1.0
KLHL38
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18123,096,071 - 123,104,247 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8123,096,073 - 123,104,247 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08120,338,771 - 120,348,443 (-)NCBIMhudiblu_PPA_v0panPan3
KLHL38
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11321,928,527 - 21,937,245 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1321,929,309 - 21,936,591 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1321,894,495 - 21,903,201 (-)NCBI
ROS_Cfam_1.01322,270,407 - 22,279,108 (-)NCBI
UMICH_Zoey_3.11321,997,223 - 22,005,922 (-)NCBI
UNSW_CanFamBas_1.01322,101,109 - 22,109,814 (-)NCBI
UU_Cfam_GSD_1.01322,343,097 - 22,351,803 (-)NCBI
Klhl38
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530316,360,849 - 16,371,419 (+)NCBI
SpeTri2.0NW_00493647023,786,950 - 23,796,422 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KLHL38
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl415,792,997 - 15,801,466 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1415,792,997 - 15,801,473 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2416,543,606 - 16,545,876 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KLHL38
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18118,218,054 - 118,227,068 (-)NCBI
ChlSab1.1 Ensembl8118,216,715 - 118,226,428 (-)Ensembl
Klhl38
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473531,372,792 - 31,380,575 (+)NCBI

Position Markers
D8S44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,662,814 - 124,662,883UniSTSGRCh37
Build 368124,731,995 - 124,732,064RGDNCBI36
Celera8120,850,576 - 120,850,645RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,988,204 - 119,988,273UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:269
Count of miRNA genes:241
Interacting mature miRNAs:255
Transcripts:ENST00000325995
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.


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 adipose tissue appendage entire extraembryonic component
High 1 1 1
Medium 5 497 2 4 2 1 836 1013 8 1 3 824
Low 1424 1628 65 44 93 17 1373 897 421 54 432 265 30 287 972 1
Below cutoff 860 452 1113 337 801 223 1877 248 2477 240 857 1051 121 829 953 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000325995   ⟹   ENSP00000321475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,645,527 - 123,652,950 (-)Ensembl
RefSeq Acc Id: ENST00000684634   ⟹   ENSP00000508228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,644,442 - 123,653,801 (-)Ensembl
RefSeq Acc Id: NM_001081675   ⟹   NP_001075144
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,644,442 - 123,653,801 (-)NCBI
GRCh378124,657,743 - 124,666,041 (-)NCBI
Build 368124,727,096 - 124,734,371 (-)NCBI Archive
Celera8120,845,677 - 120,852,952 (-)RGD
HuRef8119,983,305 - 119,990,580 (-)RGD
CHM1_18124,698,106 - 124,705,381 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001075144 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI27887 (Get FASTA)   NCBI Sequence Viewer  
  BAE53438 (Get FASTA)   NCBI Sequence Viewer  
  EAW92045 (Get FASTA)   NCBI Sequence Viewer  
  Q2WGJ6 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001075144   ⟸   NM_001081675
- UniProtKB: Q2WGJ6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000321475   ⟸   ENST00000325995
RefSeq Acc Id: ENSP00000508228   ⟸   ENST00000684634
Protein Domains
BACK   BTB

Promoters
RGD ID:7214133
Promoter ID:EPDNEW_H12813
Type:initiation region
Name:KLHL38_2
Description:kelch like family member 38
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12814  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,653,024 - 123,653,084EPDNEW
RGD ID:7214135
Promoter ID:EPDNEW_H12814
Type:initiation region
Name:KLHL38_1
Description:kelch like family member 38
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12813  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,653,801 - 123,653,861EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001081675.3(KLHL38):c.459G>A (p.Lys153=) single nucleotide variant not provided [RCV000973428] Chr8:123652468 [GRCh38]
Chr8:124664708 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_001081675.3(KLHL38):c.595G>A (p.Ala199Thr) single nucleotide variant not provided [RCV000965785] Chr8:123652332 [GRCh38]
Chr8:124664572 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124443708-125305582)x1 copy number loss not provided [RCV000848210] Chr8:124443708..125305582 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001081675.3(KLHL38):c.510C>T (p.Ala170=) single nucleotide variant not provided [RCV000956670] Chr8:123652417 [GRCh38]
Chr8:124664657 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34435 AgrOrtholog
COSMIC KLHL38 COSMIC
Ensembl Genes ENSG00000175946 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000321475 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000325995 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.120.10.80 UniProtKB/Swiss-Prot
GTEx ENSG00000175946 GTEx
HGNC ID HGNC:34435 ENTREZGENE
Human Proteome Map KLHL38 Human Proteome Map
InterPro BACK UniProtKB/Swiss-Prot
  BTB-kelch_protein UniProtKB/Swiss-Prot
  BTB/POZ_dom UniProtKB/Swiss-Prot
  Kelch-typ_b-propeller UniProtKB/Swiss-Prot
  Kelch_1 UniProtKB/Swiss-Prot
  KLHL38 UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
KEGG Report hsa:340359 UniProtKB/Swiss-Prot
NCBI Gene 340359 ENTREZGENE
PANTHER PTHR24412:SF462 UniProtKB/Swiss-Prot
Pfam BACK UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
  Kelch_1 UniProtKB/Swiss-Prot
PharmGKB PA162393613 PharmGKB
PIRSF Kelch-like_protein_gigaxonin UniProtKB/Swiss-Prot
PROSITE BTB UniProtKB/Swiss-Prot
SMART BACK UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
  Kelch UniProtKB/Swiss-Prot
Superfamily-SCOP SSF117281 UniProtKB/Swiss-Prot
  SSF54695 UniProtKB/Swiss-Prot
UniProt KLH38_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0PK12 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 KLHL38  kelch like family member 38    kelch-like family member 38  Symbol and/or name change 5135510 APPROVED
2013-02-27 KLHL38  kelch-like family member 38    kelch-like 38 (Drosophila)  Symbol and/or name change 5135510 APPROVED