Klhdc8a Gene Detail

Summary

• Symbol
  Klhdc8a
• Name
  kelch domain containing 8A
• Synonyms
  A630065K24Rik

• Feature Type
  protein coding gene
• IDs
  MGI:2442630
  NCBI Gene: 213417
• Alliance
  gene page
• Transcription Start Sites
  11 TSS

Location &
Maps

• Sequence Map
  Chr1:132226364-132235095 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 1, 57.24 cM
• Mapping Data
  1 experiment

Strain
Comparison

• SNPs within 2kb
  295 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2442630	protein coding gene	Chr1:132226352-132236216 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016469	protein coding gene	Chr1:135774277-135782996 (+)
A/J	MGP_AJ_G0016452	protein coding gene	Chr1:130741455-130750185 (+)
AKR/J	MGP_AKRJ_G0016417	protein coding gene	Chr1:134589242-134597961 (+)
BALB/cJ	MGP_BALBcJ_G0016412	protein coding gene	Chr1:131075361-131084083 (+)
C3H/HeJ	MGP_C3HHeJ_G0016238	protein coding gene	Chr1:134737605-134746335 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016873	protein coding gene	Chr1:140815474-140824204 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014584	protein coding gene	Chr1:123885993-123895123 (+)
CAST/EiJ	MGP_CASTEiJ_G0015818	protein coding gene	Chr1:133731787-133740554 (+)
CBA/J	MGP_CBAJ_G0016210	protein coding gene	Chr1:145623424-145632147 (+)
DBA/2J	MGP_DBA2J_G0016317	protein coding gene	Chr1:129705594-129714313 (+)
FVB/NJ	MGP_FVBNJ_G0016316	protein coding gene	Chr1:128336884-128345611 (+)
LP/J	MGP_LPJ_G0016388	protein coding gene	Chr1:137083514-137092236 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016341	protein coding gene	Chr1:151423791-151432519 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016909	protein coding gene	Chr1:134343275-134352032 (+)
PWK/PhJ	MGP_PWKPhJ_G0015604	protein coding gene	Chr1:128696700-128705488 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015391	protein coding gene	Chr1:133301625-133311613 (+)
WSB/EiJ	MGP_WSBEiJ_G0015880	protein coding gene	Chr1:134339973-134348697 (+)

Homology

• Human Ortholog
  KLHDC8A, kelch domain containing 8A

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  KLHDC8A, kelch domain containing 8A
  
• Links
  HGNC:25573

  NCBI Gene ID: 55220

  neXtProt AC: NX_Q8IYD2

  UniProt: Q8IYD2

  
  
• Chr Location
  1q32.1; chr1:205336061-205357090 (-)  GRCh38

---

• MGI Vertebrate Homology
  Klhdc8a stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: KLHDC8A
• Gene Tree
  Klhdc8a
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  11 phenotype references
  

• All Mutations and Alleles
  8
• Chemically induced (other)
  2
• Endonuclease-mediated
  3
• Gene trapped
  1
• Radiation induced
  1
• Targeted
  1
• Genomic Mutations
  3 involving Klhdc8a
• Incidental Mutations
  APF
• Find Mice (IMSR)
  15 strains or lines available

Gene Ontology
(GO)
Classifications

Expression

• Assay Results
  830
• Tissues
  28
• cDNA Data
  21
• Literature Summary
  2

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase klhdc8a

Sequences &
Gene Models

• All Sequences
  39
• RefSeq
  7
• UniProt
  3
• CCDS
  CCDS35706.1

• Ensembl
  ENSMUSG00000042115 (Evidence)
• NCBI Gene
  213417

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000042115	Ensembl Gene Model | MGI Sequence Detail	8732	C57BL/6J
transcript	ENSMUST00000046071	Ensembl | MGI Sequence Detail	4269	Not Applicable
polypeptide	ENSMUSP00000038297	Ensembl | MGI Sequence Detail	350	Not Applicable

Protein
Information

• UniProt
  3 Sequences
• Protein Ontology
  PR:000031735 kelch domain-containing protein 8A
  (term hierarchy)
• InterPro Domains
  IPR011043 Galactose oxidase/kelch, beta-propeller
  IPR051746 Kelch domain-containing protein 8
  IPR006652 Kelch repeat type 1
  IPR015915 Kelch-type beta propeller

Molecular
Reagents

• All nucleic 22

  cDNA 21

  Primer pair 1

  
  

  Microarray probesets 4

References

• Summaries
  All 30

  Developmental Gene Expression 2

  Phenotypes 11
• Earliest
  J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
• Latest
  J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Klhdc8a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr8723	Chr1:132226236-132226243 (+)	-124 bp
Tssr8724	Chr1:132226288-132226299 (+)	-70 bp
Tssr8725	Chr1:132226308-132226338 (+)	-41 bp
Tssr8726	Chr1:132226344-132226369 (+)	-7 bp
Tssr8727	Chr1:132226370-132226387 (+)	15 bp
Tssr8728	Chr1:132226390-132226397 (+)	30 bp
Tssr8729	Chr1:132226401-132226412 (+)	43 bp
Tssr8730	Chr1:132226770-132226808 (+)	425 bp
Tssr8731	Chr1:132227040-132227050 (+)	681 bp
Tssr8732	Chr1:132227074-132227087 (+)	717 bp
Tssr8733	Chr1:132230631-132230637 (+)	4,270 bp