PAM16 (presequence translocase associated motor 16) - Rat Genome Database

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Gene: PAM16 (presequence translocase associated motor 16) Homo sapiens
Analyze
Symbol: PAM16
Name: presequence translocase associated motor 16
RGD ID: 1603048
HGNC Page HGNC:29679
Description: Involved in negative regulation of ATP-dependent activity; ossification; and protein import into mitochondrial matrix. Located in matrix side of mitochondrial inner membrane and mitochondrial matrix. Part of PAM complex, Tim23 associated import motor. Implicated in spondylometaphyseal dysplasia Megarbane-Dagher-Melike type.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CGI-136; Magmas; magmas-like protein; mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction; mitochondria-associated granulocyte macrophage CSF-signaling molecule; mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction; mitochondrial import inner membrane translocase subunit Tim16; presequence translocase associated motor 16 homolog; presequence translocase-associated motor 16 homolog; presequence translocase-associated motor 16 homolog (S. cerevisiae); presequence translocated-associated motor subunit PAM16; SMDMDM; Tim16; TIMM16
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,340,251 - 4,351,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,331,549 - 4,355,607 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,390,252 - 4,401,322 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,330,253 - 4,341,301 (-)NCBINCBI36Build 36hg18NCBI36
Celera164,597,200 - 4,610,208 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,357,104 - 4,368,547 (-)NCBIHuRef
CHM1_1164,390,188 - 4,401,147 (-)NCBICHM1_1
T2T-CHM13v2.0164,367,543 - 4,380,493 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
3. Unlocking the presequence import pathway. Schulz C, etal., Trends Cell Biol. 2015 May;25(5):265-75. doi: 10.1016/j.tcb.2014.12.001. Epub 2014 Dec 23.
Additional References at PubMed
PMID:10339406   PMID:10810093   PMID:11750097   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15704001   PMID:16169070   PMID:17207965   PMID:19564938   PMID:20053669   PMID:20719856  
PMID:20877624   PMID:21873635   PMID:21900206   PMID:22031295   PMID:22939629   PMID:23263864   PMID:24786642   PMID:25165880   PMID:25416956   PMID:26186194   PMID:26344197   PMID:26972000  
PMID:27173435   PMID:27330077   PMID:27354339   PMID:27499296   PMID:28514442   PMID:28515276   PMID:28611215   PMID:29117863   PMID:29507755   PMID:30414099   PMID:30572598   PMID:30639242  
PMID:30804502   PMID:31056398   PMID:31536960   PMID:31617661   PMID:31871319   PMID:32203420   PMID:32296183   PMID:32628020   PMID:32877691   PMID:33060197   PMID:33306668   PMID:33957083  
PMID:33961781   PMID:34369648   PMID:34715125   PMID:34800366   PMID:35013218   PMID:35235311   PMID:35850772   PMID:35944360   PMID:37314216  


Genomics

Comparative Map Data
PAM16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,340,251 - 4,351,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,331,549 - 4,355,607 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,390,252 - 4,401,322 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,330,253 - 4,341,301 (-)NCBINCBI36Build 36hg18NCBI36
Celera164,597,200 - 4,610,208 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,357,104 - 4,368,547 (-)NCBIHuRef
CHM1_1164,390,188 - 4,401,147 (-)NCBICHM1_1
T2T-CHM13v2.0164,367,543 - 4,380,493 (-)NCBIT2T-CHM13v2.0
Pam16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,434,330 - 4,442,810 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,434,328 - 4,442,852 (-)EnsemblGRCm39 Ensembl
GRCm38164,616,466 - 4,624,946 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl164,616,464 - 4,624,988 (-)EnsemblGRCm38mm10GRCm38
MGSCv37164,616,466 - 4,624,946 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36164,531,694 - 4,540,174 (-)NCBIMGSCv36mm8
Celera165,245,931 - 5,254,413 (-)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.45NCBI
Pam16
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81011,449,316 - 11,457,071 (+)NCBIGRCr8
mRatBN7.21010,942,534 - 10,950,654 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,943,001 - 10,950,649 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,651,764 - 15,659,342 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01015,140,582 - 15,148,160 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,809,734 - 10,817,306 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01011,146,359 - 11,153,936 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1011,146,359 - 11,153,936 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,911,717 - 9,919,294 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41011,072,402 - 11,079,980 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera109,905,330 - 9,912,908 (+)NCBICelera
Cytogenetic Map10q12NCBI
Pam16
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544213,087,092 - 13,097,048 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544213,087,082 - 13,097,048 (+)NCBIChiLan1.0ChiLan1.0
PAM16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2184,847,319 - 4,883,025 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1168,631,732 - 8,675,724 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,243,435 - 3,248,815 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1 Ensembl164,418,006 - 4,515,038 (-)Ensemblpanpan1.1panPan2
PAM16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1637,040,484 - 37,047,708 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha638,368,787 - 38,376,010 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0637,244,809 - 37,252,032 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl637,184,569 - 37,252,759 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1637,039,040 - 37,046,262 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,932,206 - 36,939,429 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0637,333,506 - 37,340,730 (+)NCBIUU_Cfam_GSD_1.0
Pam16
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344106,547,828 - 106,555,515 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936694153,959 - 161,635 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936694153,958 - 161,635 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100513346
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl337,928,096 - 37,985,151 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1337,928,098 - 38,005,619 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,983,207 - 39,040,262 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PAM16
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,020,116 - 4,031,233 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606826,660,330 - 26,671,448 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pam16
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474618,235,774 - 18,237,603 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PAM16
77 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3 copy number gain See cases [RCV000050956] Chr16:3710449..4644951 [GRCh38]
Chr16:3760450..4694952 [GRCh37]
Chr16:3700451..4634953 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1 copy number loss See cases [RCV000137768] Chr16:3820522..4668347 [GRCh38]
Chr16:3870523..4718348 [GRCh37]
Chr16:3810524..4658349 [NCBI36]
Chr16:16p13.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3 copy number gain See cases [RCV000142504] Chr16:3726702..4644961 [GRCh38]
Chr16:3776703..4694962 [GRCh37]
Chr16:3716704..4634963 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
NM_016069.11(PAM16):c.226A>G (p.Asn76Asp) single nucleotide variant Autosomal recessive spondylometaphyseal dysplasia, Megarbane type [RCV000167551] Chr16:4340985 [GRCh38]
Chr16:4390986 [GRCh37]
Chr16:16p13.3		 pathogenic|not provided
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3 copy number gain See cases [RCV000511502] Chr16:2891391..4440397 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 copy number gain not provided [RCV000683747] Chr16:2651354..4460114 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
NM_016069.11(PAM16):c.112C>G (p.Arg38Gly) single nucleotide variant Autosomal recessive spondylometaphyseal dysplasia, Megarbane type [RCV000709807]|not provided [RCV002532893] Chr16:4341481 [GRCh38]
Chr16:4391482 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4367730-4445327)x3 copy number gain not provided [RCV000751554] Chr16:4367730..4445327 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.131G>A (p.Arg44Gln) single nucleotide variant not provided [RCV001648136] Chr16:4341462 [GRCh38]
Chr16:4391463 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.10:g.4340031G>C single nucleotide variant not provided [RCV001692950] Chr16:4340031 [GRCh38]
Chr16:4390032 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.340C>A (p.Gln114Lys) single nucleotide variant not provided [RCV001693132] Chr16:4340357 [GRCh38]
Chr16:4390358 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.10:g.4351556G>T single nucleotide variant not provided [RCV001680105] Chr16:4351556 [GRCh38]
Chr16:4401557 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.291+7G>T single nucleotide variant PAM16-related disorder [RCV003906026]|not provided [RCV000971804] Chr16:4340913 [GRCh38]
Chr16:4390914 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_016069.11(PAM16):c.345G>A (p.Glu115=) single nucleotide variant not provided [RCV000926736] Chr16:4340352 [GRCh38]
Chr16:4390353 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.221A>C (p.Gln74Pro) single nucleotide variant Autosomal recessive spondylometaphyseal dysplasia, Megarbane type [RCV000788051] Chr16:4341372 [GRCh38]
Chr16:4391373 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.(?_3727698)_(4802591_?)del deletion Rubinstein-Taybi syndrome [RCV000813975] Chr16:3727698..4802591 [GRCh38]
Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_016069.11(PAM16):c.291+10C>T single nucleotide variant not provided [RCV000965320] Chr16:4340910 [GRCh38]
Chr16:4390911 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:4382314-4511029)x1 copy number loss not provided [RCV000848810] Chr16:4382314..4511029 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_016069.11(PAM16):c.225+88T>C single nucleotide variant not provided [RCV001673972] Chr16:4341280 [GRCh38]
Chr16:4391281 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.226-54A>G single nucleotide variant not provided [RCV001687228] Chr16:4341039 [GRCh38]
Chr16:4391040 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.89-228A>T single nucleotide variant not provided [RCV001646079] Chr16:4341732 [GRCh38]
Chr16:4391733 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.89-304A>G single nucleotide variant not provided [RCV001621126] Chr16:4341808 [GRCh38]
Chr16:4391809 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.300C>T (p.Arg100=) single nucleotide variant not provided [RCV000918873] Chr16:4340397 [GRCh38]
Chr16:4390398 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.24C>T (p.Ile8=) single nucleotide variant not provided [RCV000932930] Chr16:4343271 [GRCh38]
Chr16:4393272 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.10:g.(?_3727698)_(4802591_?)dup duplication Amelocerebrohypohidrotic syndrome [RCV001031942] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 copy number gain not provided [RCV001006745] Chr16:2651354..4614965 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_016069.11(PAM16):c.4-84T>G single nucleotide variant not provided [RCV001618074] Chr16:4343375 [GRCh38]
Chr16:4393376 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.291+48T>C single nucleotide variant not provided [RCV001656066] Chr16:4340872 [GRCh38]
Chr16:4390873 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.292-241= single nucleotide variant not provided [RCV001715787] Chr16:4340646 [GRCh38]
Chr16:4390647 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.89-62G>A single nucleotide variant not provided [RCV001686754] Chr16:4341566 [GRCh38]
Chr16:4391567 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_3777699)_(4852592_?)dup duplication Kohlschutter's syndrome [RCV001305610] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.3+175C>G single nucleotide variant not provided [RCV001645534] Chr16:4351057 [GRCh38]
Chr16:4401058 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.10:g.4351487A>G single nucleotide variant not provided [RCV001647749] Chr16:4351487 [GRCh38]
Chr16:4401488 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.192C>T (p.Asn64=) single nucleotide variant not provided [RCV003108664] Chr16:4341401 [GRCh38]
Chr16:4391402 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.113G>A (p.Arg38Gln) single nucleotide variant not provided [RCV001949023] Chr16:4341480 [GRCh38]
Chr16:4391481 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.307G>A (p.Glu103Lys) single nucleotide variant not provided [RCV002041144] Chr16:4340390 [GRCh38]
Chr16:4390391 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.263T>C (p.Val88Ala) single nucleotide variant not provided [RCV001927895] Chr16:4340948 [GRCh38]
Chr16:4390949 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.355A>G (p.Lys119Glu) single nucleotide variant not provided [RCV002004297] Chr16:4340342 [GRCh38]
Chr16:4390343 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.118C>T (p.Arg40Cys) single nucleotide variant not provided [RCV002024309]|not specified [RCV004046945] Chr16:4341475 [GRCh38]
Chr16:4391476 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.130C>T (p.Arg44Trp) single nucleotide variant not provided [RCV001927564]|not specified [RCV004041551] Chr16:4341463 [GRCh38]
Chr16:4391464 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.31A>G (p.Met11Val) single nucleotide variant not provided [RCV002043246] Chr16:4343264 [GRCh38]
Chr16:4393265 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.94C>T (p.Arg32Trp) single nucleotide variant not provided [RCV002040628] Chr16:4341499 [GRCh38]
Chr16:4391500 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_4390320)_(4391525_?)del deletion not provided [RCV001943112] Chr16:4390320..4391525 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.292-10G>A single nucleotide variant not provided [RCV002037643] Chr16:4340415 [GRCh38]
Chr16:4390416 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.51C>T (p.Gly17=) single nucleotide variant not provided [RCV002036942] Chr16:4343244 [GRCh38]
Chr16:4393245 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.340C>G (p.Gln114Glu) single nucleotide variant not provided [RCV001921330] Chr16:4340357 [GRCh38]
Chr16:4390358 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.242T>G (p.Phe81Cys) single nucleotide variant not provided [RCV001960237] Chr16:4340969 [GRCh38]
Chr16:4390970 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.374C>T (p.Thr125Met) single nucleotide variant not provided [RCV002012827]|not specified [RCV004045438] Chr16:4340323 [GRCh38]
Chr16:4390324 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.268G>A (p.Gly90Ser) single nucleotide variant not provided [RCV002018355] Chr16:4340943 [GRCh38]
Chr16:4390944 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.13C>G (p.Leu5Val) single nucleotide variant not provided [RCV002045989] Chr16:4343282 [GRCh38]
Chr16:4393283 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.310C>T (p.Arg104Cys) single nucleotide variant not provided [RCV001907159] Chr16:4340387 [GRCh38]
Chr16:4390388 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.299G>A (p.Arg100His) single nucleotide variant not provided [RCV002014986] Chr16:4340398 [GRCh38]
Chr16:4390399 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.141C>T (p.Ala47=) single nucleotide variant not provided [RCV002206280] Chr16:4341452 [GRCh38]
Chr16:4391453 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.3+14C>T single nucleotide variant not provided [RCV002127244] Chr16:4351218 [GRCh38]
Chr16:4401219 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.225+15C>T single nucleotide variant not provided [RCV002127271] Chr16:4341353 [GRCh38]
Chr16:4391354 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.312C>T (p.Arg104=) single nucleotide variant not provided [RCV002206013] Chr16:4340385 [GRCh38]
Chr16:4390386 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.10:g.3619617_4448281del deletion See cases [RCV003313806] Chr16:3619617..4448281 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_016069.11(PAM16):c.292-20G>C single nucleotide variant not provided [RCV002126555] Chr16:4340425 [GRCh38]
Chr16:4390426 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.88+12T>C single nucleotide variant not provided [RCV002129705] Chr16:4343195 [GRCh38]
Chr16:4393196 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.292-9A>T single nucleotide variant not provided [RCV002131427] Chr16:4340414 [GRCh38]
Chr16:4390415 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.226-3C>T single nucleotide variant not provided [RCV002172789] Chr16:4340988 [GRCh38]
Chr16:4390989 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.3+20C>T single nucleotide variant not provided [RCV002173564] Chr16:4351212 [GRCh38]
Chr16:4401213 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.159C>T (p.Gly53=) single nucleotide variant not provided [RCV002095611] Chr16:4341434 [GRCh38]
Chr16:4391435 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.226-18G>A single nucleotide variant not provided [RCV002141167] Chr16:4341003 [GRCh38]
Chr16:4391004 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.292-16A>G single nucleotide variant not provided [RCV002121532] Chr16:4340421 [GRCh38]
Chr16:4390422 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.27T>C (p.Ile9=) single nucleotide variant not provided [RCV002175469] Chr16:4343268 [GRCh38]
Chr16:4393269 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.88+15G>A single nucleotide variant not provided [RCV002181645] Chr16:4343192 [GRCh38]
Chr16:4393193 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.132G>C (p.Arg44=) single nucleotide variant not provided [RCV003111916] Chr16:4341461 [GRCh38]
Chr16:4391462 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_016069.11(PAM16):c.292-12G>A single nucleotide variant not provided [RCV002771269] Chr16:4340417 [GRCh38]
Chr16:4390418 [GRCh37]
Chr16:16p13.3		 benign
NM_016069.11(PAM16):c.226-9C>G single nucleotide variant not provided [RCV002755720] Chr16:4340994 [GRCh38]
Chr16:4390995 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.47T>C (p.Val16Ala) single nucleotide variant not provided [RCV002904221]|not specified [RCV004066207] Chr16:4343248 [GRCh38]
Chr16:4393249 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.3+3G>A single nucleotide variant not provided [RCV003020015] Chr16:4351229 [GRCh38]
Chr16:4401230 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_016069.11(PAM16):c.226-10_226-9del microsatellite not provided [RCV003065565] Chr16:4340994..4340995 [GRCh38]
Chr16:4390995..4390996 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.226-5T>C single nucleotide variant not provided [RCV002746440] Chr16:4340990 [GRCh38]
Chr16:4390991 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.292-13C>T single nucleotide variant not provided [RCV002587730] Chr16:4340418 [GRCh38]
Chr16:4390419 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.226-9C>T single nucleotide variant not provided [RCV002587123] Chr16:4340994 [GRCh38]
Chr16:4390995 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.88+14C>T single nucleotide variant not provided [RCV002658133] Chr16:4343193 [GRCh38]
Chr16:4393194 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.375G>A (p.Thr125=) single nucleotide variant not provided [RCV003881062] Chr16:4340322 [GRCh38]
Chr16:4390323 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.225+7C>A single nucleotide variant not provided [RCV003668975] Chr16:4341361 [GRCh38]
Chr16:4391362 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.225+18C>T single nucleotide variant not provided [RCV003666838] Chr16:4341350 [GRCh38]
Chr16:4391351 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.225+9A>G single nucleotide variant not provided [RCV003821960] Chr16:4341359 [GRCh38]
Chr16:4391360 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.226-16C>T single nucleotide variant not provided [RCV003845903] Chr16:4341001 [GRCh38]
Chr16:4391002 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.88+8T>C single nucleotide variant not provided [RCV003728220] Chr16:4343199 [GRCh38]
Chr16:4393200 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.226-20C>T single nucleotide variant not provided [RCV003681598] Chr16:4341005 [GRCh38]
Chr16:4391006 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1 copy number loss not provided [RCV003885471] Chr16:2990033..4837646 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001201479.2(CORO7-PAM16):c.2843G>A (p.Arg948Gln) single nucleotide variant not specified [RCV004372219] Chr16:4343221 [GRCh38]
Chr16:4393222 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001201479.2(CORO7-PAM16):c.2833C>T (p.Arg945Trp) single nucleotide variant not specified [RCV004372218] Chr16:4343231 [GRCh38]
Chr16:4393232 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001201479.2(CORO7-PAM16):c.3001G>A (p.Glu1001Lys) single nucleotide variant not specified [RCV004372222] Chr16:4340979 [GRCh38]
Chr16:4390980 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001201479.2(CORO7-PAM16):c.3022G>C (p.Asp1008His) single nucleotide variant not specified [RCV004372223] Chr16:4340958 [GRCh38]
Chr16:4390959 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001201479.2(CORO7-PAM16):c.2890G>A (p.Ala964Thr) single nucleotide variant not specified [RCV004372220] Chr16:4341472 [GRCh38]
Chr16:4391473 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001201479.2(CORO7-PAM16):c.2999A>G (p.Tyr1000Cys) single nucleotide variant not specified [RCV004372221] Chr16:4340981 [GRCh38]
Chr16:4390982 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85881-12268399)x3 copy number gain not provided [RCV004819312] Chr16:85881..12268399 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3(chr16:513767-5555136)x3 copy number gain not provided [RCV004819313] Chr16:513767..5555136 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_016069.11(PAM16):c.3+7C>A single nucleotide variant not provided [RCV005121830] Chr16:4351225 [GRCh38]
Chr16:4401226 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.72G>A (p.Leu24=) single nucleotide variant not provided [RCV005159619] Chr16:4343223 [GRCh38]
Chr16:4393224 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.3+9C>T single nucleotide variant not provided [RCV005071657] Chr16:4351223 [GRCh38]
Chr16:4401224 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.225+14G>C single nucleotide variant not provided [RCV005126855] Chr16:4341354 [GRCh38]
Chr16:4391355 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.3+7C>T single nucleotide variant not provided [RCV005068815] Chr16:4351225 [GRCh38]
Chr16:4401226 [GRCh37]
Chr16:16p13.3		 likely benign
NM_016069.11(PAM16):c.292-16A>T single nucleotide variant not provided [RCV005078772] Chr16:4340421 [GRCh38]
Chr16:4390422 [GRCh37]
Chr16:16p13.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3824
Count of miRNA genes:806
Interacting mature miRNAs:954
Transcripts:ENST00000318059, ENST00000571178, ENST00000571819, ENST00000571941, ENST00000571986, ENST00000573236, ENST00000573450, ENST00000573553, ENST00000573614, ENST00000575636, ENST00000575848, ENST00000575884, ENST00000575942, ENST00000576217, ENST00000577031
Prediction methods:Microtar, Miranda, Rnahybrid
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
597414042GWAS1510116_HBMI-adjusted waist-hip ratio QTL GWAS1510116 (human)2e-08body size trait (VT:0100005)1643452404345241Human
597414041GWAS1510115_HBMI-adjusted waist-hip ratio QTL GWAS1510115 (human)4e-09body size trait (VT:0100005)1643408724340873Human
597617228GWAS1674088_Hduodenitis QTL GWAS1674088 (human)1e-12duodenitis1643471984347199Human
597251338GWAS1347412_HBMI-adjusted hip circumference QTL GWAS1347412 (human)3e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1643410394341040Human
597454808GWAS1550882_HBMI-adjusted hip circumference QTL GWAS1550882 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1643502824350283Human
597502533GWAS1598607_HBMI-adjusted hip circumference QTL GWAS1598607 (human)3e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)1643417324341733Human
597502535GWAS1598609_HBMI-adjusted hip circumference QTL GWAS1598609 (human)3e-16BMI-adjusted hip circumferencehip circumference (CMO:0000014)1643502824350283Human
597502534GWAS1598608_HBMI-adjusted hip circumference QTL GWAS1598608 (human)2e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)1643408724340873Human
597456530GWAS1552604_HBMI-adjusted waist-hip ratio QTL GWAS1552604 (human)1e-08body size trait (VT:0100005)1643452404345241Human

Markers in Region
RH103952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,393,617 - 4,393,753UniSTSGRCh37
Build 36164,333,618 - 4,333,754RGDNCBI36
Celera164,600,565 - 4,600,701RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,360,469 - 4,360,605UniSTS
GeneMap99-GB4 RH Map1662.34UniSTS
WI-11319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,390,253 - 4,390,382UniSTSGRCh37
Build 36164,330,254 - 4,330,383RGDNCBI36
Celera164,597,201 - 4,597,330RGD
Cytogenetic Map16pUniSTS
Cytogenetic Map16p13.3UniSTS
HuRef164,357,105 - 4,357,234UniSTS
GeneMap99-GB4 RH Map1663.59UniSTS
Whitehead-RH Map1630.1UniSTS
SHGC-57722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,395,108 - 4,395,308UniSTSGRCh37
Build 36164,335,109 - 4,335,309RGDNCBI36
Celera164,604,016 - 4,604,216RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,362,284 - 4,362,484UniSTS
TNG Radiation Hybrid Map162586.0UniSTS


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 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 170

Sequence


Ensembl Acc Id: ENST00000318059   ⟹   ENSP00000315693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,251 - 4,351,321 (-)Ensembl
Ensembl Acc Id: ENST00000571178   ⟹   ENSP00000460434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,318 - 4,351,293 (-)Ensembl
Ensembl Acc Id: ENST00000571819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,341,652 - 4,343,693 (-)Ensembl
Ensembl Acc Id: ENST00000571941   ⟹   ENSP00000460708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,251 - 4,345,904 (-)Ensembl
Ensembl Acc Id: ENST00000571986   ⟹   ENSP00000459802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,251 - 4,351,315 (-)Ensembl
Ensembl Acc Id: ENST00000573236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,249 - 4,343,550 (-)Ensembl
Ensembl Acc Id: ENST00000573450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,251 - 4,343,624 (-)Ensembl
Ensembl Acc Id: ENST00000573553   ⟹   ENSP00000459955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,251 - 4,343,761 (-)Ensembl
Ensembl Acc Id: ENST00000573614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,251 - 4,351,270 (-)Ensembl
Ensembl Acc Id: ENST00000575636   ⟹   ENSP00000458914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,251 - 4,351,055 (-)Ensembl
Ensembl Acc Id: ENST00000575848   ⟹   ENSP00000458412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,251 - 4,344,133 (-)Ensembl
Ensembl Acc Id: ENST00000575884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,345,290 - 4,345,978 (-)Ensembl
Ensembl Acc Id: ENST00000575942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,345,290 - 4,351,320 (-)Ensembl
Ensembl Acc Id: ENST00000576217   ⟹   ENSP00000461047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,340,251 - 4,355,607 (-)Ensembl
Ensembl Acc Id: ENST00000577031   ⟹   ENSP00000459113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,331,549 - 4,351,265 (-)Ensembl
RefSeq Acc Id: NM_016069   ⟹   NP_057153
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,340,251 - 4,351,321 (-)NCBI
GRCh37164,390,252 - 4,401,373 (-)ENTREZGENE
Build 36164,330,253 - 4,341,301 (-)NCBI Archive
Celera164,597,200 - 4,610,208 (-)RGD
HuRef164,357,104 - 4,368,547 (-)ENTREZGENE
CHM1_1164,390,188 - 4,401,147 (-)NCBI
T2T-CHM13v2.0164,367,543 - 4,380,493 (-)NCBI
Sequence:
RefSeq Acc Id: NP_057153   ⟸   NM_016069
- UniProtKB: Q6I9Z3 (UniProtKB/Swiss-Prot),   Q9H5X3 (UniProtKB/Swiss-Prot),   Q9Y3D7 (UniProtKB/Swiss-Prot),   I3L0X9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000460434   ⟸   ENST00000571178
Ensembl Acc Id: ENSP00000459802   ⟸   ENST00000571986
Ensembl Acc Id: ENSP00000460708   ⟸   ENST00000571941
Ensembl Acc Id: ENSP00000459955   ⟸   ENST00000573553
Ensembl Acc Id: ENSP00000458914   ⟸   ENST00000575636
Ensembl Acc Id: ENSP00000458412   ⟸   ENST00000575848
Ensembl Acc Id: ENSP00000461047   ⟸   ENST00000576217
Ensembl Acc Id: ENSP00000459113   ⟸   ENST00000577031
Ensembl Acc Id: ENSP00000315693   ⟸   ENST00000318059

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y3D7-F1-model_v2 AlphaFold Q9Y3D7 1-125 view protein structure

Promoters
RGD ID:7231197
Promoter ID:EPDNEW_H21344
Type:initiation region
Name:PAM16_2
Description:presequence translocase associated motor 16 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21345  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,343,205 - 4,343,265EPDNEW
RGD ID:7231199
Promoter ID:EPDNEW_H21345
Type:initiation region
Name:PAM16_1
Description:presequence translocase associated motor 16 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21344  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,351,266 - 4,351,326EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29679 AgrOrtholog
COSMIC PAM16 COSMIC
Ensembl Genes ENSG00000217930 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000282228 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318059 ENTREZGENE
  ENST00000318059.8 UniProtKB/Swiss-Prot
  ENST00000571178.1 UniProtKB/TrEMBL
  ENST00000571941.5 UniProtKB/TrEMBL
  ENST00000571986.5 UniProtKB/TrEMBL
  ENST00000573553.5 UniProtKB/TrEMBL
  ENST00000575636.5 UniProtKB/TrEMBL
  ENST00000575848.5 UniProtKB/TrEMBL
  ENST00000576217.1 UniProtKB/Swiss-Prot
  ENST00000577031.5 UniProtKB/TrEMBL
  ENST00000616009.2 UniProtKB/Swiss-Prot
  ENST00000631595.1 UniProtKB/TrEMBL
  ENST00000631739.1 UniProtKB/TrEMBL
  ENST00000633558.1 UniProtKB/TrEMBL
  ENST00000633650.1 UniProtKB/TrEMBL
  ENST00000633831.1 UniProtKB/TrEMBL
  ENST00000633944.1 UniProtKB/TrEMBL
  ENST00000634029.1 UniProtKB/TrEMBL
  ENST00000634045.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000217930 GTEx
  ENSG00000282228 GTEx
HGNC ID HGNC:29679 ENTREZGENE
Human Proteome Map PAM16 Human Proteome Map
InterPro J_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tim16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51025 UniProtKB/Swiss-Prot
NCBI Gene 51025 ENTREZGENE
OMIM 614336 OMIM
PANTHER MITOCHONDRIAL IMPORT INNER MEMBRANE TRANSLOCASE SUBUNIT TIM16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12388 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pam16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166048989 PharmGKB
RNAcentral URS00008B9288 RNACentral
  URS0000D6D82A RNACentral
  URS0000D6DC15 RNACentral
  URS0000D6DC4A RNACentral
  URS0000D6EC82 RNACentral
UniProt A0A0B4J298_HUMAN UniProtKB/TrEMBL
  I3L0X9 ENTREZGENE, UniProtKB/TrEMBL
  I3L1K9_HUMAN UniProtKB/TrEMBL
  I3L1U7_HUMAN UniProtKB/TrEMBL
  I3L3G8_HUMAN UniProtKB/TrEMBL
  I3L3T0_HUMAN UniProtKB/TrEMBL
  Q6I9Z3 ENTREZGENE
  Q9H5X3 ENTREZGENE
  Q9Y3D7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6I9Z3 UniProtKB/Swiss-Prot
  Q9H5X3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-15 PAM16  presequence translocase associated motor 16    presequence translocase associated motor 16 homolog  Symbol and/or name change 5135510 APPROVED
2016-07-26 PAM16  presequence translocase associated motor 16 homolog    presequence translocase-associated motor 16 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-07-27 PAM16  presequence translocase-associated motor 16 homolog (S. cerevisiae)  Magmas  mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction  Symbol and/or name change 5135510 APPROVED